Chondrodysplasia Punctata: A heterogeneous group of bone dysplasias, the common character of which is stippling of the epiphyses in infancy. The group includes a severe autosomal recessive form (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC), an autosomal dominant form (Conradi-Hunermann syndrome), and a milder X-linked form. Metabolic defects associated with impaired peroxisomes are present only in the rhizomelic form.Chondrodysplasia Punctata, Rhizomelic: An autosomal recessive form of CHONDRODYSPLASIA PUNCTATA characterized by defective plasmalogen biosynthesis and impaired peroxisomes. Patients have shortened proximal limbs and severely disturbed endochondral bone formation. The metabolic defects associated with the impaired peroxisomes are present only in the rhizomelic form of chondrodysplasia punctata. (From Scriver et al, Metabolic Basis of Inherited Disease, 6th ed, p1497)Plasmalogens: GLYCEROPHOSPHOLIPIDS in which one of the two acyl chains is attached to glycerol with an ether alkenyl linkage instead of an ester as with the other glycerophospholipids.Phytanic Acid: A 20-carbon branched chain fatty acid. In phytanic acid storage disease (REFSUM DISEASE) this lipid may comprise as much as 30% of the total fatty acids of the plasma. This is due to a phytanic acid alpha-hydroxylase deficiency.Peroxisomal Disorders: A heterogeneous group of inherited metabolic disorders marked by absent or dysfunctional PEROXISOMES. Peroxisomal enzymatic abnormalities may be single or multiple. Biosynthetic peroxisomal pathways are compromised, including the ability to synthesize ether lipids and to oxidize long-chain fatty acid precursors. Diseases in this category include ZELLWEGER SYNDROME; INFANTILE REFSUM DISEASE; rhizomelic chondrodysplasia (CHONDRODYSPLASIA PUNCTATA, RHIZOMELIC); hyperpipecolic acidemia; neonatal adrenoleukodystrophy; and ADRENOLEUKODYSTROPHY (X-linked). Neurologic dysfunction is a prominent feature of most peroxisomal disorders.Refsum Disease: An autosomal recessive familial disorder that usually presents in childhood with POLYNEUROPATHY; SENSORINEURAL HEARING LOSS; ICHTHYOSIS; ATAXIA; RETINITIS PIGMENTOSA; and CARDIOMYOPATHIES. (From Joynt, Clinical Neurology, 1991, Ch37, p58-9; Rev Med Interne 1996;17(5):391-8) This condition can be caused by mutation in the genes encoding peroxisomal phytanoyl-CoA hydroxylase or proteins associated peroxisomal membrane, leading to impaired catabolism of PHYTANIC ACID in PEROXISOMES.Zellweger Syndrome: An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.Osteochondrodysplasias: Abnormal development of cartilage and bone.Acetyl-CoA C-Acetyltransferase: An enzyme that catalyzes the formation of acetoacetyl-CoA from two molecules of ACETYL COA. Some enzymes called thiolase or thiolase-I have referred to this activity or to the activity of ACETYL-COA C-ACYLTRANSFERASE.Arylsulfatases: Enzymes that catalyze the hydrolysis of a phenol sulfate to yield a phenol and sulfate. Arylsulfatase A, B, and C have been separated. A deficiency of arylsulfatases is one of the causes of metachromatic leukodystrophy (LEUKODYSTROPHY, METACHROMATIC). EC 3.1.6.1.Microbodies: Electron-dense cytoplasmic particles bounded by a single membrane, such as PEROXISOMES; GLYOXYSOMES; and glycosomes.Acyltransferases: Enzymes from the transferase class that catalyze the transfer of acyl groups from donor to acceptor, forming either esters or amides. (From Enzyme Nomenclature 1992) EC 2.3.Peroxisomes: Microbodies which occur in animal and plant cells and in certain fungi and protozoa. They contain peroxidase, catalase, and allied enzymes. (From Singleton and Sainsbury, Dictionary of Microbiology and Molecular Biology, 2nd ed)Exostoses, Multiple Hereditary: Hereditary disorder transmitted by an autosomal dominant gene and characterized by multiple exostoses (multiple osteochondromas) near the ends of long bones. The genetic abnormality results in a defect in the osteoclastic activity at the metaphyseal ends of the bone during the remodeling process in childhood or early adolescence. The metaphyses develop benign, bony outgrowths often capped by cartilage. A small number undergo neoplastic transformation.Dwarfism: A genetic or pathological condition that is characterized by short stature and undersize. Abnormal skeletal growth usually results in an adult who is significantly below the average height.Fibroblasts: Connective tissue cells which secrete an extracellular matrix rich in collagen and other macromolecules.Bone Diseases, DevelopmentalCockroaches: Insects of the order Dictyoptera comprising several families including Blaberidae, BLATTELLIDAE, Blattidae (containing the American cockroach PERIPLANETA americana), Cryptocercidae, and Polyphagidae.Rare Diseases: A large group of diseases which are characterized by a low prevalence in the population. They frequently are associated with problems in diagnosis and treatment.Societies, Medical: Societies whose membership is limited to physicians.Early Intervention (Education): Procedures and programs that facilitate the development or skill acquisition in infants and young children who have disabilities, who are at risk for developing disabilities, or who are gifted. It includes programs that are designed to prevent handicapping conditions in infants and young children and family-centered programs designed to affect the functioning of infants and children with special needs. (From Journal of Early Intervention, Editorial, 1989, vol. 13, no. 1, p. 3; A Discursive Dictionary of Health Care, prepared for the U.S. House of Representatives Committee on Interstate and Foreign Commerce, 1976)Questionnaires: Predetermined sets of questions used to collect data - clinical data, social status, occupational group, etc. The term is often applied to a self-completed survey instrument.Advisory Committees: Groups set up to advise governmental bodies, societies, or other institutions on policy. (Bioethics Thesaurus)Registries: The systems and processes involved in the establishment, support, management, and operation of registers, e.g., disease registers.Orphan Drug Production: Production of drugs or biologicals which are unlikely to be manufactured by private industry unless special incentives are provided by others.United States Social Security Administration: An independent agency within the Executive Branch of the United States Government. It administers a national social insurance program whereby employees, employers, and the self-employed pay contributions into pooled trust funds. Part of the contributions go into a separate hospital insurance trust fund for workers at age 65 to provide help with medical expenses. Other programs include the supplemental social security income program for the aged, blind, and disabled and the Old Age Survivors and Disability Insurance Program. It became an independent agency March 31, 1995. It had previously been part of the Department of Health, Education, and Welfare, later the Department of Health and Human Services. (From United States Government Manual, 1994-95)Social Security: Government sponsored social insurance programs.Insurance, Disability: Insurance designed to compensate persons who lose wages because of illness or injury; insurance providing periodic payments that partially replace lost wages, salary, or other income when the insured is unable to work because of illness, injury, or disease. Individual and group disability insurance are two types of such coverage. (From Facts on File Dictionary of Health Care Management, 1988, p207)Veterans Disability Claims: Disorders claimed as a result of military service.United StatesSecurity Measures: Regulations to assure protection of property and equipment.Computer Security: Protective measures against unauthorized access to or interference with computer operating systems, telecommunications, or data structures, especially the modification, deletion, destruction, or release of data in computers. It includes methods of forestalling interference by computer viruses or so-called computer hackers aiming to compromise stored data.Presenilin-1: Integral membrane protein of Golgi and endoplasmic reticulum. Its homodimer is an essential component of the gamma-secretase complex that catalyzes the cleavage of membrane proteins such as NOTCH RECEPTORS and AMYLOID BETA-PEPTIDES precursors. PSEN1 mutations cause early-onset ALZHEIMER DISEASE type 3 that may occur as early as 30 years of age in humans.Alzheimer Disease: A degenerative disease of the BRAIN characterized by the insidious onset of DEMENTIA. Impairment of MEMORY, judgment, attention span, and problem solving skills are followed by severe APRAXIAS and a global loss of cognitive abilities. The condition primarily occurs after age 60, and is marked pathologically by severe cortical atrophy and the triad of SENILE PLAQUES; NEUROFIBRILLARY TANGLES; and NEUROPIL THREADS. (From Adams et al., Principles of Neurology, 6th ed, pp1049-57)Mixed Connective Tissue Disease: A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is differentially characterized by high serum titers of antibodies to ribonuclease-sensitive extractable (saline soluble) nuclear antigen and a "speckled" epidermal nuclear staining pattern on direct immunofluorescence.Connective Tissue Diseases: A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.Current Procedural Terminology: Descriptive terms and identifying codes for reporting medical services and procedures performed by PHYSICIANS. It is produced by the AMERICAN MEDICAL ASSOCIATION and used in insurance claim reporting for MEDICARE; MEDICAID; and private health insurance programs (From CPT 2002).Prenatal Diagnosis: Determination of the nature of a pathological condition or disease in the postimplantation EMBRYO; FETUS; or pregnant female before birth.Mutation: Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations.Blood: The body fluid that circulates in the vascular system (BLOOD VESSELS). Whole blood includes PLASMA and BLOOD CELLS.Sensitivity and Specificity: Binary classification measures to assess test results. Sensitivity or recall rate is the proportion of true positives. Specificity is the probability of correctly determining the absence of a condition. (From Last, Dictionary of Epidemiology, 2d ed)Polymerase Chain Reaction: In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships.Fellowships and Scholarships: Stipends or grants-in-aid granted by foundations or institutions to individuals for study.Orthopedics: A surgical specialty which utilizes medical, surgical, and physical methods to treat and correct deformities, diseases, and injuries to the skeletal system, its articulations, and associated structures.Passeriformes: A widely distributed order of perching BIRDS, including more than half of all bird species.Orthopedic Procedures: Procedures used to treat and correct deformities, diseases, and injuries to the MUSCULOSKELETAL SYSTEM, its articulations, and associated structures.Specialty Boards: Organizations which certify physicians and dentists as specialists in various fields of medical and dental practice.Certification: Compliance with a set of standards defined by non-governmental organizations. Certification is applied for by individuals on a voluntary basis and represents a professional status when achieved, e.g., certification for a medical specialty.BaltimoreBreast Neoplasms: Tumors or cancer of the human BREAST.Palpation: Application of fingers with light pressure to the surface of the body to determine consistence of parts beneath in physical diagnosis; includes palpation for determining the outlines of organs.Breast: In humans, one of the paired regions in the anterior portion of the THORAX. The breasts consist of the MAMMARY GLANDS, the SKIN, the MUSCLES, the ADIPOSE TISSUE, and the CONNECTIVE TISSUES.Mammography: Radiographic examination of the breast.Biopsy, Needle: Removal and examination of tissue obtained through a transdermal needle inserted into the specific region, organ, or tissue being analyzed.Ultrasonography, Mammary: Use of ultrasound for imaging the breast. The most frequent application is the diagnosis of neoplasms of the female breast.Breast Diseases: Pathological processes of the BREAST.

Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. (1/23)

Rhizomelic chondrodysplasia punctata is an autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. Most fetuses with the disorder die in utero or shortly thereafter, and the few that survive suffer severe debility and profound mental retardation. Death ensues in the first decade of life. Relatively few reports discuss antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. We describe the prospective antenatal diagnosis of rhizomelic chondrodysplasia punctata in a fetus with no family history of the disorder, based on the sonographic findings of severe rhizomelic limb shortening in combination with premature ossification and stippling of multiple epiphyses. The ultrasonographic features and differential diagnosis of rhizomelic chondrodysplasia punctata are elaborated.  (+info)

Ether lipid biosynthesis: alkyl-dihydroxyacetonephosphate synthase protein deficiency leads to reduced dihydroxyacetonephosphate acyltransferase activities. (2/23)

Recent studies have indicated that two peroxisomal enzymes involved in ether lipid synthesis, i.e., dihydroxyacetonephosphate acyltransferase and alkyl-dihydroxyacetonephosphate synthase, are directed to peroxisomes by different targeting signals, i.e., peroxisomal targeting signal type 1 and type 2, respectively. In this study, we describe a new human fibroblast cell line in which alkyl-dihydroxyacetonephosphate synthase was found to be deficient both at the level of enzyme activity and enzyme protein. At the cDNA level, a 128 base pair deletion was found leading to a premature stop. Remarkably, dihydroxyacetonephosphate acyltransferase activity was strongly reduced to a level comparable to the activities measured in fibroblasts from patients affected by the classical form of rhizomelic chondrodysplasia punctata (caused by a defect in peroxisomal targeting signal type 2 import). Dihydroxyacetonephosphate acyltransferase activity was completely normal in another alkyl-dihydroxyacetonephosphate synthase activity-deficient patient. Fibroblasts from this patient showed normal levels of the synthase protein and inactivity results from a point mutation leading to an amino acid substitution. These results strongly suggest that the activity of dihydroxyacetonephosphate acyltransferase is dependent on the presence of alkyl-dihydroxyacetonephosphate synthase protein. This interpretation implies that the deficiency of dihydroxyacetonephosphate acyltransferase (targeted by a peroxisomal targeting signal type 1) in the classic form of rhizomelic chondrodysplasia punctata is a consequence of the absence of the alkyl-dihydroxyacetonephosphate synthase protein (targeted by a peroxisomal targeting signal type 2).  (+info)

MR imaging and MR spectroscopy in rhizomelic chondrodysplasia punctata. (3/23)

A case of rhizomelic chondrodysplasia punctata was investigated with MR imaging of the brain and hydrogen-1 MR spectroscopy of the brain and blood. Areas with abnormal signal hyperintensity on T2-weighted images or hypointensity on T1-weighted images were detected in the subcortical white matter. MR spectroscopy of the brain showed that normal-appearing white matter was characterized by increased levels of mobile lipids and myo-inositol, reduced levels of choline, and the presence of acetate. The importance of these metabolic anomalies is correlated to the deficiency in plasmalogen biosynthesis.  (+info)

Functional studies on human Pex7p: subcellular localization and interaction with proteins containing a peroxisome-targeting signal type 2 and other peroxins. (4/23)

Pex7p is a WD40-containing protein involved in peroxisomal import of proteins containing an N-terminal peroxisome-targeting signal (PTS2). The interaction of human recombinant Pex7p expressed in different hosts/systems with its PTS2 ligand and other peroxins was analysed using various experimental approaches. Specific binding of human Pex7p to PTS2 could be demonstrated only when Pex7p was formed in vitro by a coupled transcription/translation system or synthesized in vivo in Chinese hamster ovary K1 cells transfected with a construct coding for a Pex7p-green fluorescent protein (GFP) fusion protein. Apparently, no cofactors are required and only monomeric Pex7p binds to PTS2. The interaction is reduced upon cysteine alkylation and is impaired upon truncation of the N-terminus of Pex7p. Interaction of Pex7p with other peroxins could not be demonstrated in bacterial or yeast two-hybrid screens, or in pull-down binding assays. The GFP fusion proteins, tagged at either the N- or C-terminus, were able to restore PTS2 import in rhizomelic chondrodysplasia punctata fibroblasts, and Pex7p-GFP was located both in the lumen of peroxisomes and in the cytosol.  (+info)

Inactivation of ether lipid biosynthesis causes male infertility, defects in eye development and optic nerve hypoplasia in mice. (5/23)

Although known for almost 80 years, the physiological role of plasmalogens (PLs), the major mammalian ether lipids (ELs), is still enigmatic. Humans that lack ELs suffer from rhizomelic chondrodysplasia punctata (RCDP), a peroxisomal disorder usually resulting in death in early childhood. In order to learn more about the functions of ELs, we generated a mouse model for RCDP by a targeted disruption of the dihydroxyacetonephosphate acyltransferase gene. The mutant mice revealed multiple abnormalities, such as male infertility, defects in eye development, cataract and optic nerve hypoplasia, some of which were also observed in RCDP. Mass spectroscopic analysis demonstrated the presence of highly unsaturated fatty acids including docosahexaenoic acid (DHA) in brain PLs and the occurrence of PLs in lipid raft microdomains (LRMs) isolated from brain myelin. In mutants, PLs were completely absent and the concentration of brain DHA was reduced. The marker proteins flotillin-1 and F3/contactin were found in brain LRMs in reduced concentrations. In addition, the gap junctional protein connexin 43, known to be recruited to LRMs and essential for lens development and spermatogenesis, was down-regulated in embryonic fibroblasts of the EL-deficient mice. Free cholesterol, an important constituent of LRMs, was found in these fibroblasts to be accumulated in a perinuclear compartment. These data suggest that the EL-deficient mice allow the identification of new phenotypes not related so far to EL-deficiency (male sterility, defects in myelination and optic nerve hypoplasia) and indicate that PLs are required for the correct assembly and function of LRMs.  (+info)

Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata. (6/23)

Rhizomelic chondrodysplasia punctata is a human autosomal recessive disorder characterized by skeletal, eye and brain abnormalities. The disorder is caused by mutations in the PEX7 gene, which encodes the receptor for a class of peroxisomal matrix enzymes. We describe the generation and characterization of a Pex7 mouse knockout (Pex7(-/-)). Pex7(-/-) mice are born severely hypotonic and have a growth impairment. Mortality in Pex7(-/-) mice is highest in the perinatal period although some Pex7(-/-) mice survived beyond 18 months. Biochemically Pex7(-/-) mice display the abnormalities related to a Pex7 deficiency, i.e. a severe depletion of plasmalogens, impaired alpha-oxidation of phytanic acid and impaired beta-oxidation of very-long-chain fatty acids. In the intermediate zone of the developing cerebral cortex Pex7(-/-) mice have an increase in neuronal density. In vivo neuronal birthdating revealed that Pex7(-/-) mice have a delay in neuronal migration. Analysis of bone ossification in newborn Pex7(-/-) mice revealed a defect in ossification of distal bone elements of the limbs as well as parts of the skull and vertebrae. These findings demonstrate that Pex7 knockout mice provide an important model to study the role of peroxisomal functioning in the pathogenesis of the human disorder.  (+info)

The import receptor Pex7p and the PTS2 targeting sequence. (7/23)

This chapter concerns one branch of the peroxisome import pathway for newly-synthesized peroxisomal proteins, specifically the branch for matrix proteins that contain a peroxisome targeting sequence type 2 (PTS2). The structure and utilization of the PTS2 are discussed, as well as the properties of the receptor, Pex7p, which recognizes the PTS2 sequence and conveys these proteins to the common translocation machinery in the peroxisome membrane. We also describe the recent evidence that this receptor recycles into the peroxisome matrix and back out to the cytosol in the course of its function. Pex7p is assisted in its functioning by several species-specific auxiliary proteins that are described in the following chapter.  (+info)

Peroxisome biogenesis disorders. (8/23)

Defects in PEX genes impair peroxisome assembly and multiple metabolic pathways confined to this organelle, thus providing the biochemical and molecular bases of the peroxisome biogenesis disorders (PBD). PBD are divided into two types--Zellweger syndrome spectrum (ZSS) and rhizomelic chondrodysplasia punctata (RCDP). Biochemical studies performed in blood and urine are used to screen for the PBD. DNA testing is possible for all of the disorders, but is more challenging for the ZSS since 12 PEX genes are known to be associated with this spectrum of PBD. In contrast, PBD-RCDP is associated with defects in the PEX7 gene alone. Studies of the cellular and molecular defects in PBD patients have contributed significantly to our understanding of the role of each PEX gene in peroxisome assembly.  (+info)

Rhizomelic chondrodysplasia punctata is a condition that impairs the normal development of many parts of the body. The major features of this disorder include skeletal abnormalities, distinctive facial features, intellectual disability, and respiratory problems.. Rhizomelic chondrodysplasia punctata is characterized by shortening of the bones in the upper arms and thighs (rhizomelia). Affected individuals also have a specific bone abnormality called chondrodysplasia punctata, which affects the growth of the long bones and can be seen on x-rays. People with rhizomelic chondrodysplasia punctata often develop joint deformities (contractures) that make the joints stiff and painful.. Distinctive facial features are also seen with rhizomelic chondrodysplasia punctata. These include a prominent forehead, widely set eyes (hypertelorism), a sunken appearance of the middle of the face (midface hypoplasia), a small nose with upturned nostrils, and full cheeks. Additionally, almost all affected individuals ...
TY - JOUR. T1 - Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. AU - Nayak, S. S.. AU - Adiga, P. K.. AU - Rai, L.. AU - Girisha, K. M.. PY - 2012. Y1 - 2012. N2 - Maternal systemic lupus erythematosus and autoimmune diseases have been extremely rarely reported to cause rhizomelic chondrodysplasia punctata. We report on a fetus aborted spontaneously at 21 weeks of gestation due to complications of maternal mixed connective tissue disorder. The fetus had micrognathia, a depressed nasal bridge, flat nose, long philtrum, short columella and rhizomelia. Radiographic study showed stippling of carpal and tarsal bones, short humeri and coronal clefts in the vertebrae. Ossification centers were present at the lower end of the femora and upper end of the tibiae.. AB - Maternal systemic lupus erythematosus and autoimmune diseases have been extremely rarely reported to cause rhizomelic chondrodysplasia punctata. We report on a fetus aborted ...
MalaCards based summary : Chondrodysplasia Punctata, Tibia-Metacarpal Type, also known as chondrodysplasia punctata, tibial-metacarpal type, is related to chondrodysplasia punctata syndrome and otitis media. An important gene associated with Chondrodysplasia Punctata, Tibia-Metacarpal Type is ARSD (Arylsulfatase D). Affiliated tissues include bone, and related phenotypes are short 4th metacarpal and malar flattening ...
Chondrodysplasia punctata: Chondrodysplasia punctata is a very rare, little-understood disorder in which spots of opaque calcifications are observed in the epiphyseal cartilage at birth. Many infants die within the first year; those who live may exhibit dwarfism, mental retardation, and congenital cataracts.
Chondrodysplasia punctata (CDP) is a heterogenous group of skeletal dysplasias characterized by aberrant bone mineralization, manifesting radiologically as epiphyseal stippling. Among this group, brachytelephalangic dysplasia, a benign form of CDP (CDPX1), is probably under-reported. It is an X-linked recessive disorder and is characterized by a flat nasal tip, short columella and maxillary hypoplasia, involvement of terminal phalanges, and stippled chondrodystrophy. This paper presents a clinical series of 13 patients with brachytelephalangic dysplasia. These patients enrolled during 2002-2006 were re-evaluated and their dysmorphic features were compiled in a predesigned proforma. Skeletal survey, karyotype, cardiac evaluation, and ophthalmic evaluation were planned for all the cases. Out of 13 patients, 10 were males and three were females. All patients had flat facies, a depressed nasal bridge, a hypoplastic nose, a short philtrum, notched alae nasi, brachydactyly, and hypoplastic terminal phalanges.
Information on chondrodysplasia punctata, a condition that affects the development in babies. Learn the causes, symptoms, diagnosis and treatment for this rare disorder from St. Louis Childrens Hospital.
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To answer this question, the researchers replaced the bacterial gene with its equivalent gene in humans. "We discovered that the protein of humans and that of bacteria work identically, despite the enormous evolutionary distance between the two organisms," concludes Elías.. In this way, the team determined that the orphan enzyme was involved in the manufacture of plasminogens, a class of phospholipids found in cell membranes, especially in the brain and in the heart.. In common diseases, such as cancer or Alzheimers disease, or other rare diseases, such as Zellwegers syndrome (cerebro-hepato-renal syndrome) or rhizomelic chondrodysplasia punctate, there are considerable changes in plasminogen levels.. In the case of Alzheimers, for example, a very significant reduction is observed in the affected areas of the brain. "In some cancers such as gastrointestinal there is an increase in these compounds and in others a decrease," explains the principal investigator of this study, Montserrat ...
Chondrodysplasia in the most general sense is sometimes called a syndrome, other times part of a syndrome, the definition of that word being a collection of interconnected symptoms. Some dogs may have many, some a few, and others no readily observable symptoms. The clinical signs may be very mild, from almost undetectable bowing or shortening of the legs, to obvious skeletal deformity and the presence of several health problems. Chondrodysplasia Punctata is one name applied to a syndrome of multi-systemic disorders, and is so-called because of the "dots" of calcium phosphate deposits in the softer cartilage. It reminds me of the school of art made popular by Georges Seurat called "Pointillism". This genetic-metabolic problem has various skeletal expressions. Depending on the particular variety, the mode of inheritance could be autosomal recessive or dominant, or X-chromosome-linked recessive or dominant, some with full penetrance, and some not.. Besides skeletal indications, there are eye ...
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This gene encodes a transmembrane protein that localizes to the endoplasmic reticulum. This protein catalyses the conversion of delta8 to delta7 sterols, an important step in sterol biosynthesis. Mutations in this gene are responsible for the mouse tattered mutant phenotype. Tattered males are embryonic lethal, while heterozygous females have developmental defects. Deficiency of the related gene in human causes X-linked dominant chondrodysplasia punctata. [provided by RefSeq, May 2015 ...
BackgroundX-linked dominant chondrodysplasia punctata, also known as Conradi-H ünermann-Happle syndrome, is a rare skeletal dysplasia characterized by short sta
Keutel syndrome (KS) is a rare autosomal recessive genetic disorder characterized by abnormal diffuse cartilage calcification, hypoplasia of the mid-face, peripheral pulmonary stenosis, hearing loss, short distal phalanges (tips) of the fingers and mild mental retardation. Individuals with KS often present with peripheral pulmonary stenosis, brachytelephalangism, sloping forehead, midface hypoplasia, and receding chin. It is associated with abnormalities in the gene coding for matrix gla protein (MGP). Being an autosomal recessive disorder, it may be inherited from two unaffected, abnormal MGP-carrying parents. Thus, people who inherit two affected MGP genes will likely inherit KS. It was first identified in 1972 as a novel rare genetic disorder sharing similar symptoms with chondrodysplasia punctata. Multiple forms of chondrodysplasia punctata share symptoms consistent with KS including abnormal cartilage calcification, forceful respiration, brachytelephalangism, hypotonia, psychomotor delay, ...
Discover Lifes page about the biology, natural history, ecology, identification and distribution of Pelidnota punctata, Grapevine Beetle image
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Another name for Chondrodysplasia is Achondroplasia. Although achondroplasia is a genetic condition, it does not appear to be passed on directly from ...
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Acromesomelic dysplasia, Hunter-Thompson type (AMDH), Chondrodysplasia, Grebe type (AMDG) and Fibular hypoplasia and complex brachydactyly. Acromesomelic dysplasia, Hunter-Thompson type (AMDH; MIM 201250) and Chondrodysplasia, Grebe type (AMDG, MIM 200700) are autosomal recessive disorders caused by mutations in the growth/differentiation factor 5 (GDF5) gene. AMDH and AMDG are characterized by severe prenatal onset growth retardation restricted to the limbs. The middle and distal segments of the limbs are more severely affected than the proximal parts. In AMDH, the lower limbs are more profoundly affected than the upper limbs and large joint dislocations are common. In AMDG, hypomelia is more severe, but the upper and lower limbs are equally affected. Reduction or absence of the proximal and middle phalanges of the fingers and toes is seen in both disorders; however, this anomaly is more prominent in AMDG with all fingers and toes ball-shaped and functionless. The axial skeleton is not affected ...
Plasmalogen replacement therapy would be of substantial benefit in RCDP, and may also be of benefit in disorders that feature secondary plasmalogen deficiency. Although plasmalogens are mostly biosynthesized, small amounts can be obtained from dietary compounds [100]. The highest amounts are found in oils of invertebrate marine animals, such as shark liver and krill oil [101]. The average adult is estimated to consume 10-100 mg of 1-0-octadecyl-sn-glycerol (batyl alcohol) daily [102]. Although it is the alkylglycerol content of these dietary compounds that has been more extensively studied, there is some evidence that intestinal absorption of phospholipids is superior to that of alkylglycerols [101].. Dietary alkylglycerols are absorbed intact, however the ether bond can be subsequently oxidized in intestinal mucosal cells [103]. As summarized by Das et al. [104] in rodent feeding studies, only 1-0-alkylglycerols, saturated or monounsaturated, of appropriate chain length (C15-19) can be ...
Leukonychia Punctata Possible Causes (Differential Diagnoses) include ❗ Congenital Leukonychia ❗ Rheumatoid Arthritis ❗ Diabetes Mellitus ❗ Check more at Symptoma.com
From UniProt:. Peroxisome biogenesis disorder complementation group 5 (PBD-CG5): A peroxisomal disorder arising from a failure of protein import into the peroxisomal membrane or matrix. The peroxisome biogenesis disorders (PBD group) are genetically heterogeneous with at least 14 distinct genetic groups as concluded from complementation studies. Include disorders are: Zellweger syndrome (ZWS), neonatal adrenoleukodystrophy (NALD), infantile Refsum disease (IRD), and classical rhizomelic chondrodysplasia punctata (RCDP). ZWS, NALD and IRD are distinct from RCDP and constitute a clinical continuum of overlapping phenotypes known as the Zellweger spectrum (PBD-ZSS). [MIM:614866]. Peroxisome biogenesis disorder 5B (PBD5B): A peroxisome biogenesis disorder that includes neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD), two milder manifestations of the Zellweger disease spectrum. The clinical course of patients with the NALD and IRD presentation is variable and may include ...
Phyllorhiza punctata is a species of jellyfish, also known as the floating bell, Australian spotted jellyfish or the white-spotted jellyfish. It is native to the West Pacific from Australia to Japan, but has been introduced widely elsewhere. It feeds primarily on zooplankton. P. punctata generally can reach up to 50 centimetres (20 in) in bell diameter, but in October 2007, one 72 cm (28 in) wide, perhaps the largest ever recorded, was found on Sunset Beach, North Carolina.[citation needed] True jellyfish go through a two-stage life cycle which consists of a medusa stage (adult) and a polyp stage (juvenile). In the medusa stage male jellyfish release sperm into the water column and the female jellyfish gathers the sperm into her mouth where she holds the eggs. Once fertilization occurs and larvae are formed they leave their mother and settle to the ocean floor. Once on the bottom a polyp form occurs and this form reproduces asexually by "cloning" or dividing itself into other polyps. Jellyfish ...
Source:http://linkedlifedata.com/resource/umls/id/C0001080 MSH: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, GENU VARUM, and trident hand. (Online Mendelian Inheritance in Man, http://www.ncbi.nlm.nih.gov/Omim, MIM#100800, April 20, 2001),CSP: autosomal dominant disorder that is the most frequent form of short-limb dwarfism; a disturbance of epiphyseal chondroblastic growth, causing inadequate enchondral bone formation.,NCI: An autosomal dominant disorder that is the most frequent form of short-limb dwarfism. Affected individuals exhibit short stature caused by rhizomelic shortening of the limbs, characteristic facies with frontal bossing and mid-face hypoplasia, exaggerated lumbar lordosis, limitation of elbow extension, genu varum, and ...
Enzymes containing flavin cofactors are predominantly involved in redox reactions in numerous cellular processes where the protein environment modulates the chemical reactivity of the flavin to either transfer one or two electrons. Some flavoenzymes catalyze reactions with no net redox change. In these reactions, the protein environment modulates the reactivity of the flavin to perform novel chemistries. Recent mechanistic and structural data supporting novel flavin functionalities in reactions catalyzed by chorismate synthase, type II isopentenyl diphosphate isomerase, UDP-galactopyranose mutase, and alkyl-dihydroxyacetonephosphate synthase are presented in this review. In these enzymes, the flavin plays either a direct role in acid/base reactions or as a nucleophile or electrophile. In addition, the flavin cofactor is proposed to function as a
Chondrodysplasia of Texel sheep is a newly described recessively inherited disorder distinct from other chondrodysplasias described in sheep. Phenotypically normal at birth, affected lambs develop microscopic lesions as early as 9 days of age, and usually demonstrate gross deformities and markedly reduced rates of bone growth by 2 to 3 weeks. Individual bone growth rates are most severely affected in the proximal bones of the forelimbs. Chondrodysplastic lambs typically have short stature, angular limb deformities, a barrel-shaped chest and a wide-based stance. Gross lesions include tracheal narrowing and contortion, enlarged costochondral junctions, and erosion of articular cartilage in major limb joints. Microscopic lesions are confined to hyaline cartilage, and are characterised by degeneration of the interterritorial matrix and dense perichondrocytic rings consisting predominantly of type VI collagen. These lesions are identical in appearance to those in achondrogenesis 1b and diastrophic ...
Kaufmann-Peterson [base]; Keratitic Precipitate; Keratitis Punctata; Kidney Protein; Killed Parenteral [vaccine]; Klebsiella ...
Human peroxisome biogenesis disorders are lethal genetic diseases in which abnormal peroxisome assembly compromises overall peroxisome and cellular function. Peroxisomes are ubiquitous membrane-bound organelles involved in several important biochemical processes, notably lipid metabolism and the use of reactive oxygen species for detoxification. Using cultured cells, we systematically characterized the peroxisome assembly phenotypes associated with dsRNA-mediated knockdown of 14 predicted Drosophila homologs of PEX genes (encoding peroxins; required for peroxisome assembly and linked to peroxisome biogenesis disorders), and confirmed that at least 13 of them are required for normal peroxisome assembly. We also demonstrate the relevance of Drosophila as a genetic model for the early developmental defects associated with the human peroxisome biogenesis disorders. Mutation of the PEX1 gene is the most common cause of peroxisome biogenesis disorders and is one of the causes of the most severe form ...
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Kaufmann-Peterson [base]; Keratitic Precipitate; Keratitis Punctata; Kidney Protein; Killed Parenteral [vaccine]; Klebsiella ...
Purpose: : We aim to perform pre-clinical gene therapy studies for Retinitis Punctata Albescens (RPA). RPA is caused by mutations in the RLBP1 gene, which codes for the visual cycle protein CRALBP. A CRALBP-deficiency results in a malfunction of the retinal pigment epithelium (RPE) and leads to RPE and photoreceptor (PR) death. The early apparition of characteristic clinical signs (e.g. night blindness in childhood and small white dots observed by fundoscopy) allows an early diagnosis thus providing a large therapeutic window. An Rlbp1-deficient mouse model has been previously generated but it does not fully reproduce the disease course. As a consequence, in parallel to this model, we are generating an in vitro human retinal model of the RPA RPE for gene transfer studies. Methods: : We transferred the white Rlbp1-deficient mouse colony onto a pigmented background. In parallel, three RPA patients volunteered for skin biopsies from which we generated a stock of CRALBP1-deficient fibroblasts. These ...
Spondyloepimetaphyseal dysplasia, Missouri type, metaphyseal anadysplasia 1, metaphyseal anadysplasia 2 and metaphyseal dysplasia, Spahr type:. Spondyloepimetaphyseal dysplasia, Missouri type (SEMD, Missouri type; MIM 602111) is an autosomal dominant disorder caused by missense mutations in the prodomain of matrix metalloproteinase 13 (MMP13). SEMD, Missouri type is allelic to metaphyseal anadysplasia 1 (MANDP1; MIM 602111) and they most likely represent a phenotypic spectrum rather than discrete disorders. Both SEMD, Missouri type and MANDP1 are disorders characterized by similar, if not identical, transient metaphyseal abnormalities including flaring, irregularity and a widened growth plate that improve spontaneously. Other findings include pear-shaped vertebrae in childhood, delayed bone age, rhizomelic shortening especially of the lower limbs, genu varum, tibial, femoral, radial and ulnar bowing, small flattened epiphyses and irregular endplates. An autosomal recessive form of MANDP1, caused ...
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LDH zymograms as explained under results show the presence of two detectable activities in C. punctata and C. striatus that typically correspond to two loci of LDH namely LDH-A and LDH-B (Table-2). The inferred homotetrameric composition of the representative LDH activities of A and B loci and that of their random heterotetramers (-A1B3, -A2B2, -A3B1) is also confirmed by heat inactivation (results not shown here). Published evidence also reveals the existence of a third locus C that is temporally expressed in fishes [18]. Previously it was referred to as E locus because it was known to predominantly function in regions of nervous system concerned with vision, but subsequently an orthologous expression was found in other tissue such as the liver and thus renamed as C [1]. It is estimated that C-locus might have evolved as a result of duplication of B [2-3,8] whereas predecessor of A and B was a single gene of more remote origin.. Whitt and Maeda [19] have also reported that blind cave fish, ...
alpha1 aml1 aml1/cbfb aml1/evi1 anhydrase anion ankyloblepharon-ectodermal anteverted anti-collagen anti-lysosome anti-type-ii… childhoods children childs choanal chondrocytes chondrodysplasia chondrodysplasias chondrodystrophy ciliary clavicles…. ...
In sugar beet fields, E. balteatus was the species with the highest mortality rate. The two coccinellid species had a better survival rate than E. balteatus. All aphidophagous species had higher mortality rates in absence of aphids. In potato, the survival rate of all aphidophagous was lower than sugar beet when aphids were present in excess probably because A. fabae reproduced less in potato. Nevertheless, we have observed in potato no mortality of C. 7-punctata during all its development cycle. This suggests that C. 7-punctata could use more efficiently aphids as food sources than H. axyridis. In potato and sugar beet, H. axyridis had the longest development cycle, being still at the larval stage when C. 7-punctata and E. balteatus reached the pupae stage. We can suppose that pupae of E. balteatus and C. 7-punctata were an alternative food (intraguild prey) to H. axyridis when aphids were lacking. Pupae are immobile and therefore more sensitive to the attack of predators ...
Peroxisome biogenesis disorders (PBD) are a group of inherited conditions caused by faulty assembly of peroxisomes, structures located inside cells that regulate levels of important fats and lipids in the body. When there is faulty peroxisome assembly, as in PBD, these important fats and lipids either accumulate or are not made. There is no specific treatment for these disorders, and management is supportive. In order to complement existing supportive therapies, physicians and researchers are still actively looking for new treatments acting on the root cause of PBD: the peroxisome function. To identify drugs that help recover peroxisome function a group of scientists developed a laboratory-based research test aimed at reviewing the activity of the large number of potential treatments. Using this test, they have uncovered that Betaine can improve the function of the peroxisome, when the defect is caused by a PEX1-Gly843Asp mutation, and as such may improve the overall health of child suffering ...
Peroxisome biogenesis disorders (PBD) are a group of inherited conditions caused by faulty assembly of peroxisomes, structures located inside cells that regulate levels of important fats and lipids in the body. When there is faulty peroxisome assembly, as in PBD, these important fats and lipids either accumulate or are not made. There is no specific treatment for these disorders, and management is supportive. In order to complement existing supportive therapies, physicians and researchers are still actively looking for new treatments acting on the root cause of PBD: the peroxisome function. To identify drugs that help recover peroxisome function a group of scientists developed a laboratory-based research test aimed at reviewing the activity of the large number of potential treatments. Using this test, they have uncovered that Betaine can improve the function of the peroxisome, when the defect is caused by a PEX1-Gly843Asp mutation, and as such may improve the overall health of child suffering ...
Synonyms: Carcharias cornubicus, Isurus cornubicus, Isurus nasus, Isurus punctatus, Lamna cf. nasus, Lamna cornubica, Lamna cornubicus, Lamna monensis, Lamna pennanti, Lamna philippi, Lamna philippii, Lamna punctata, Lamna punctatus, Lamna whitely, Lamna whitleyi, Lamna (Oxyrhina) cornubica, Oxyrhina punctata, Squalus cambricus, Squalus cornubicus, Squalus cornubiensis, Squalus monensis, Squalus nasus, Squalus pennanti, Squalus ...
Peroxisomes are subcellular organelles with a variable diameter ranging from 0.05 to 0.5 micron in diameter, and are present in all cells except erythrocytes. The highest concentration of peroxisomes is in the liver and kidney. Although they are not
Recent studies have implicated accelerated sarcolemmal phospholipid catabolism as a mediator of the lethal sequelae of atherosclerotic heart disease. We have demonstrated that plasmalogens are the...
Peroxisomes are essential organelles for normal cellular function and are responsible for performing over 50 metabolic reactions, most of which consume or generate molecular oxygen. They are highly versatile, with both anabolic and catabolic functions, many of which are induced only under appropriate conditions. Many reactions, such as β-oxidation of VLCFAs, take place exclusively within peroxisomes. Other reactions, such as β-oxidation of long-chain fatty acids, occur in other compartments within the cell, but the peroxisomal pathway is highly inducible and allows for fine-tuning of the metabolic environment. For many pathways, such as the first steps in plasmalogen synthesis, essential portions of the reactions take place within peroxisomes and intermediates are shunted to other cellular organelles for additional processing.. Much of what has been learned about peroxisomes stems from the search to understand diseases where one or more peroxisomal functions are deficient. Peroxisomal diseases ...
Hyla punctata Hallowell, 1855 1854, Proc. Acad. Nat. Sci. Philadelphia, 7: 193. Holotype: Not stated; USNM 32369 according to Cochran, 1961, Bull. U.S. Natl. Mus., 220: 58. Type locality: Near the Gaboon River, Guinea, Gabon. Synonymy by Günther, 1859 1858, Cat. Batr. Sal. Coll. Brit. Mus.: 89; Boulenger, 1882, Cat. Batr. Sal. Coll. Brit. Mus., Ed. 2: 135. Not mentioned by Ahl, 1931, Das Tierreich, 55. Preoccupied by Hyla punctata Schneider, 1799.. Hyla aubryi Duméril, 1856, Rev. Mag. Zool., Paris, Ser. 2, 8: 561. Syntypes: MNHNP 833, 1571, and 4603 according to Guibé, 1950 1948, Cat. Types Amph. Mus. Natl. Hist. Nat.: 55. Type locality: Gabon.. Leptopelis aubryi - Günther, 1859 1858, Cat. Batr. Sal. Coll. Brit. Mus.: 89; Noble, 1924, Bull. Am. Mus. Nat. Hist., 49: 234, 331; De Witte, 1941, Explor. Parc Natl. Albert, Miss. G.F. de Witte (1933-1935), 33: 102; Perret, 1962, Rev. Zool. Bot. Afr., 65: 237.. Hylambates aubryi - Peters, 1877, Monatsber. Preuss. Akad. Wiss. Berlin, ...
Rhizomelic Chondrodysplasia Punctata Type 1. Authors Braverman NE, Moser AB, Steinberg SJ. Editors In: Pagon RA, Adam MP, Bird ... which lead to the development of rhizomelic chondrodysplasia punctata (RCDP) type 2 or 3, respectively. In such cases, both ...
FOXO1A Rhizomelic chondrodysplasia punctata type 1; 215100; PEX7 Rhizomelic chondrodysplasia punctata type 3; 600121; AGPS ... rhizomelic, type 2; 222765; GNPAT Chondrodysplasia punctata, X-linked dominant; 302960; EBP Chondrodysplasia punctata, X-linked ... RP9 Retinitis punctata albescens; 136880; PRPH2 Retinitis punctata albescens; 136880; RLBP1 Retinopathy of prematurity; 133780 ... recessive; 302950; ARSE Chondrodysplasia, Blomstrand type; 215045; PTHR1 Chondrodysplasia, Grebe type; 200700; GDF5 ...
... is an enzyme associated with Rhizomelic chondrodysplasia punctata type 2. GNPAT is located ...
... and rhizomelic chondrodysplasia punctata type 1 (RCDP1). PBD-ZSD represents a continuum of disorders including infantile Refsum ... "Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata". Nature Genetics ...
... is a receptor associated with Refsum's disease and rhizomelic chondrodysplasia punctata type 1. Peroxin GeneReviews/ ... NCBI/NIH/UW entry on Refsum Disease GeneReviews/NIH/NCBI/UW entry on Rhizomelic Chondrodysplasia Punctata Type 1 PEX7 protein, ...
Rhizomelic chondrodysplasia punctata [1] Photo (click on link under "Pattern of Shortening"). ... According to Stedman's medical dictionary "rhizomelic" means "relating to hip or shoulder joints", while "micromelic" means " ...
These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1- which impairs development of ...
... chondrodysplasia punctata MeSH C05.116.099.708.195.200 --- chondrodysplasia punctata, rhizomelic MeSH C05.116.099.708.207 --- ...
... is an enzyme associated with Type 3 Rhizomelic chondrodysplasia punctata. This enzyme catalyses the following chemical reaction ...
... chondrodysplasia punctata, rhizomelic MeSH C18.452.648.556.750.760 --- refsum disease MeSH C18.452.648.556.750.970 --- ...
... chondrodysplasia punctata, rhizomelic MeSH C16.320.565.556.750.760 --- refsum disease MeSH C16.320.565.556.750.970 --- ...
Rhizomelic chondrodysplasia punctata (autosomal recessive chondrodysplasia punctata type 1, chondrodystrophia calcificans ... porokeratosis punctata palmaris et plantaris, punctate keratoderma, punctate porokeratosis of the palms and soles) Tyrosinemia ... hyperkeratosis punctata, keratodermia punctata, keratosis punctata, keratotic pits of the palmar creases, lenticular atrophia ... X-linked dominant chondrodysplasia punctata) Costello syndrome Cronkhite-Canada syndrome Crouzon syndrome Cutis verticis gyrata ...
Types include: Rhizomelic chondrodysplasia punctata 215100, 222765, 600121 X-linked recessive chondrodysplasia punctata 302950 ... Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi ( ... Conradi-Hünermann syndrome 302960 Autosomal dominant chondrodysplasia punctata 118650 List of cutaneous conditions List of ...
... , TYPE 2; RCDP2". omim.org. Retrieved 16 January 2017. "OMIM Entry - # 600121 - RHIZOMELIC ... The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome ... "Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 January 2017. "OMIM ... "Orphanet: Rhizomelic chondrodysplasia punctata". www.orpha.net. Retrieved 23 January 2017. Braverman, Nancy E.; Moser, Ann B.; ...
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ... Ellis, R. W. B.; van Creveld, S.: A syndrome characterized by ectodermal dysplasia, polydactyly, chondro-dysplasia and ...
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ... Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones ...
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ...
Chondrodysplasia punctata. *Rhizomelic chondrodysplasia punctata. *Conradi-Hünermann syndrome. Other dwarfism. * ... Chondrodysplasia/. chondrodystrophy. (including dwarfism). Osteochondroma. *osteochondromatosis *Hereditary multiple exostoses ...
These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1- which impairs development of ...
Nayak, S. S. ; Adiga, P. K. ; Rai, L. ; Girisha, K. M. / Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal ... Nayak, S. S., Adiga, P. K., Rai, L., & Girisha, K. M. (2012). Severe rhizomelic chondrodysplasia punctata in a fetus due to ... Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. / Nayak, S. S.; Adiga ... Severe rhizomelic chondrodysplasia punctata in a fetus due to maternal mixed connective tissue disorder. Genetic counseling ( ...
These mutations in the PEX7 gene generally lead to rhizomelic chondrodysplasia punctata type 1- which impairs development of ...
x-linked chondrodysplasia punctata 1 10.4. 5. rhizomelic chondrodysplasia punctata 10.4. 6. spinal stenosis 10.4. ... MalaCards based summary : Chondrodysplasia Punctata, Tibia-Metacarpal Type, also known as chondrodysplasia punctata, tibial- ... MalaCards integrated aliases for Chondrodysplasia Punctata, Tibia-Metacarpal Type:. Name: Chondrodysplasia Punctata, Tibia- ... is related to chondrodysplasia punctata syndrome and otitis media. An important gene associated with Chondrodysplasia Punctata ...
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 2; RCDP2". omim.org. Retrieved 16 January 2017. "OMIM Entry - # 600121 - RHIZOMELIC ... The mechanism of rhizomelic chondrodysplasia punctata in the case of type 1 of this condition one finds that peroxisome ... "Rhizomelic chondrodysplasia punctata type 1 - Conditions - GTR - NCBI". www.ncbi.nlm.nih.gov. Retrieved 23 January 2017. "OMIM ... "Orphanet: Rhizomelic chondrodysplasia punctata". www.orpha.net. Retrieved 23 January 2017. Braverman, Nancy E.; Moser, Ann B.; ...
Chondrodysplasia Punctata, Rhizomelic / genetics, metabolism, pathology*. Cricetinae. Fibroblasts / metabolism, pathology. ... A defect in the alkyl-phospholipid biosynthetic pathway causes a peroxisomal disorder, rhizomelic chondrodysplasia punctata ( ... Defective lipid remodeling of GPI anchors in peroxisomal disorders, Zellweger syndrome, and rhizomelic chondrodysplasia ...
MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata. Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe ... MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata. Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe ... MR Imaging and MR Spectroscopy in Rhizomelic Chondrodysplasia Punctata. Angèle Viola, Sylviane Confort-Gouny, Jean-Philippe ... MRI of the brain and cervical spinal cord in rhizomelic chondrodysplasia punctata ...
... and questions answered by our Genetic and Rare Diseases Information Specialists for Rhizomelic chondrodysplasia punctata ... Rhizomelic chondrodysplasia punctata type 1; Rhizomelic chondrodysplasia punctata type 2; Rhizomelic chondrodysplasia punctata ... Rhizomelic chondrodysplasia punctata (RCDP) is a type of peroxisomal disorder which impairs the normal development of many ... Online Mendelian Inheritance in Man (OMIM) lists the subtypes and associated genes for Rhizomelic chondrodysplasia punctata in ...
1 Rhizomelic chondrodysplasia punctata type 1 (RCDP-1). RCDP-1 is caused by the dysfunction of Pex7, a protein that recognizes ... These findings provide the molecular and structural bases for the diagnosis of rhizomelic chondrodysplasia punctata type 1 ( ... Determination of molecular mechanism underlying peroxisomal disorder rhizomelic chondrodysplasia punctata type 1 (Press Release ... rhizomelic chondrodysplasia punctata type 1 (RCDP-1)*1. This research was supported by the Targeted Proteins Research Program ...
Rhizomelic chondrodysplasia punctata Intervention. Batyl alcohol supplementation 5 to 50 mg/kg/day.. The following steps will ... in patients with the peroxisomal disorder Rhizomelic Chondro-Dypslasia Punctata (RCDP), bypassing the peroxisomal steps in the ...
Rhizomelic chondrodysplasia punctata type 1 (RCDP1; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by ... Rhizomelic chondrodysplasia punctata type 1 (RCDP1; MIM 215100) is an autosomal recessive peroxisomal disorder characterized by ... The punctate calcifications generally resolve by one year of age leaving abnormal epiphyses and flared, irregular metaphyses. ... Radiographs of infants with RCDP1 show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral ...
Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate ... Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate ... The punctate calcifications generally resolve by one year of age leaving abnormal epiphyses and flared, irregular metaphyses. ... Radiographs of infants with RCDP show punctate calcifications in the epiphyseal cartilage and coronal clefts of the vertebral ...
Rhizomelic Chondrodysplasia Punctata Type 1 Salla Disease Sickle Cell Anemia Sjögren-Larsson Syndrome Tay-Sachs Disease ... Rhizomelic Chondrodysplasia Punctata Type 1 and our test RCDP1 is a rare genetic disorder. It is characterized by bone ...
... and questions answered by our Genetic and Rare Diseases Information Specialists for Rhizomelic chondrodysplasia punctata type 1 ... Rhizomelic chondrodysplasia punctata type 1 is one of five types of rhizomelic chondrodysplasia punctata. The types have ... Rhizomelic chondrodysplasia punctata type 1 (RCDP1) is a condition that impairs the normal development of many parts of the ... Genetics Home Reference (GHR) contains information on Rhizomelic chondrodysplasia punctata type 1. This website is maintained ...
Rhizomelic Chondrodysplasia Punctata Type 1 and our test RCDP1 is a rare genetic disorder. It is characterized by bone ...
What is Rhizomelic Chondrodysplasia Punctata? Rhizomelic Chondrodysplasia Punctata is a rare disorder characterized by dwarfism ... Rhizomelic Chondrodysplasia Punctata community discussions will be posted here. There are no new discussions. Start one now!! ... Rhizomelic Chondrodysplasia Punctata community discussions will be posted here. There are no new discussions. Start one now!! ... Rhizomelic Chondrodysplasia Punctata is a rare disorder characterized by dwarfism due to shortening of the proximal bones. ...
3.3.1. Rhizomelic Chondrodysplasia Punctata. Rhizomelic chondrodysplasia punctata is a peroxisomal biogenesis disorder ... A. L. White, P. Modaff, F. Holland-Morris, and R. M. Pauli, "Natural history of rhizomelic chondrodysplasia punctata," American ...
Rhizomelic chondrodysplasia punctata. Roberts syndrome. Salivary tumors. Sandhoff disease. Schindler disease - type 1. Severe ...
Genetics Home Reference: rhizomelic chondrodysplasia punctata (National Library of Medicine) * Genetics Home Reference: short- ...
Genetics Home Reference: rhizomelic chondrodysplasia punctata (National Library of Medicine) * Genetics Home Reference: ... Genetics Home Reference: X-linked chondrodysplasia punctata 1 (National Library of Medicine) ... Genetics Home Reference: X-linked chondrodysplasia punctata 2 (National Library of Medicine) ...
168 Rhizomelic chondrodysplasia punctata. 169 Roberts syndrome. 170 Salivary tumors. 171 Sandhoff disease ...
"Rhizomelic chondrodysplasia punctata type 1". GeneReviews at GeneTests: Medical Genetics Information Resource (database online ... 2. Rhizomelic Chondrodysplasia Punctata type 1 (RCDP1). Zellweger Spectrum Disorder. For ZSD, the manifestations depend on ... Rhizomelic chondrodysplasia punctata. RCDP presents in the neonatal period with a characteristic skeletal dysplasia. On exam, ... Skeletal x-rays show vertebral coronal clefts and generalized epiphyseal calcific stippling, called chondrodysplasia punctata ( ...
Background Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis ... Rhizomelic chondrodysplasia punctata (RCDP) type 1 is among of the rare autosomal recessive peroxisome biogenesis disorders ... "A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata ... A Missense Mutation of G257A at Exon 3 in PEX7 CDS Was Responsible for the Incidence of Rhizomelic Chondrodysplasia Punctata ...
Antenatal ultrasonographic diagnosis of rhizomelic chondrodysplasia punctata. J Ultrasound Med. 1999 Oct. 18(10):715-8. [ ... chondrodysplasia punctate (rhizomelic type); Kniest dysplasia; mesomelic and acromesomelic dysplasia; hypochondroplasia; ... Image shows rhizomelic shortening of the humerus with posterior bowing and an incomplete glenoid fossa. View Media Gallery ... Image shows rhizomelic shortening of the bilateral femurs with metaphyseal flaring. The bones are wide because of unaffected ...
Rhizomelic Chondrodysplasia Punctata NGS Panel. Rhizomelic Chondrodysplasia Punctata (RCDP) Types 1, 2, and 3 ... Zellweger Spectrum Disorders; Neonatal Adrenoleukodystrophy; Refsum Disease; Rhizomelic Chondrodysplasia Punctata, Types 1, 2, ...
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA. Welcome to the Infantile Refsum Disease website. We, John Harris and Mary Stephens, are ... and rhizomelic chondrodysplasia punctata (RCDP). The first three are really a single spectrum of disease, genetically and ...
  • Image shows rhizomelic shortening of the humerus with posterior bowing and an incomplete glenoid fossa. (medscape.com)
  • [en.wikipedia.org] There was disproportionate short stature ( She had a severe and progressive kyphoscoliosis for which she has had unsuccessful corrective surgery. (symptoma.com)