Autosomal dominant pain insensitivity congenital. Medical search. Frequent questions

Patients with HSAN IV present with widespread anhidrosis and insensitivity to pain. (medscape.com)

HSAN II is inherited as an autosomal recessive condition and is more severe with a congenital onset. (medscape.com)
Campomelic syndrome was once thought to be inherited as an autosomal recessive genetic trait but this is no longer thought to be true. (orthopedicshealth.com)

HSAN III (Riley-Day syndrome) is autosomal recessive in Ashkenazi Jews, with early childhood onset of autonomic crises. (medscape.com)
Challenging pain syndromes: Parsonage-Turner syndrome. (nih.gov)
Congenital central hypoventilation syndrome: diagnosis and management. (nih.gov)
Camptomelic syndrome is a rare congenital disorder in which multiple anomalies are present. (orthopedicshealth.com)
It is now believed that campomelic syndrome is inherited as an autosomal dominant trait. (orthopedicshealth.com)
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. (beds.ac.uk)
Blepharophimosis-intellectual disability syndrome, Verloes type is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by congenital microcephaly, severe epilepsy with hypsarrhythmia, adducted thumbs, abnormal genitalia, and normal thyroid function. (beds.ac.uk)
Androgen insensitivity syndrome is caused by a mutation in the androgen receptor, and it affects 1 in 100,000 chromosomal males. (medquizzes.net)
Androgen insensitivity syndrome is a condition that affects sexual development before birth and during puberty. (nipt-geneplanet.com)
The main group consisted of 21 patients with mean age of 15.9 years (17 boys, 4 girls) with congenital isolated hypogonadotropic hypogonadism (IHH): 13 - with Kallmann syndrome (KS), 8 with normosmic isolated h. (endocrine-abstracts.org)

Type IV features insensitivity to pain, heat intolerance, and mental deficiency. (nih.gov)

The phenotypic presentation can vary from complete androgen insensitivity (female external features) to partial insensitivity causing ambiguous or normal male features and infertility. (medquizzes.net)

Congenital physical anomalies (birth defects) are a leading cause of death in early infancy, accounting for the deaths of nearly 2 out every 1000 infants in the United States. (wikidoc.org)
Congenital disorders include minor physical anomalies (e.g., a birthmark ), severe malformations of single systems (e.g., congenital heart disease or dysmelia ), and combinations of abnormalities affecting several parts of the body. (wikidoc.org)
congenital physical anomalies 2. (wikidoc.org)

CMT3 (also known as Dejerine-Sottas disease) is a rare congenital hypomyelinating neuropathy, which can be an autosomal dominant or a recessive disorder with mutations in several genes, including PMP22 , MPZ , and EGR2 . (msdmanuals.com)
Single-gene defects may arise from abnormalities of both copies of an autosomal gene (a recessive disorder) or of only one of the two copies (a dominant disorder). (wikidoc.org)

Clinical Management of Congenital Hypogonadotropic Hypogonadism. (nih.gov)
Objective: To assess olfactory bulbs sizes and define the most common molecular defects in adolescents with congenital isolated hypogonadotropic hypogonadism.Materials and Methods: Single-centre comparative study. (endocrine-abstracts.org)

Some affected individuals do not lose sensation, but instead experience severe shooting, burning, and lancinating pains in the limbs or in the trunk. (wikipedia.org)
Primary erythrocytic is characterized by skin ulceration, redness, elevated temperature, and severe burning pain primarily in both lower extremities. (frontiersin.org)
Six months ago, the symptoms became worse, spreading from the ankles of the feet to the lower extremities, accompanied by burning pain, severe itching but normal skin temperature, and scattered chilblain skin lesions on both lower extremities. (frontiersin.org)
TIS is a congenital condition where severe deformities of the chest, spine, and ribs prevent normal breathing and lung development. (orthopedicshealth.com)

An autosomal dominant aneurysm with multisystem abnormalities caused by increased TGF-BETA signaling due to mutations in type I or II of TGF-BETA RECEPTOR. (wakehealth.edu)
Congenital disorders can be a result of genetic abnormalities, the intrauterine environment, a mixture of both, or unknown factors. (wikidoc.org)

Hereditary sensory and autonomic neuropathy type I (HSAN I) or hereditary sensory neuropathy type I (HSN I) is a group of autosomal dominant inherited neurological diseases that affect the peripheral nervous system particularly on the sensory and autonomic functions. (wikipedia.org)
Primary erythromelalgia (PE ORPHA90026) is a rare autosomal dominant neuropathy characterized by the combination of recurrent burning pain, warmth and redness of the extremities. (biomedcentral.com)

Hereditary neuropathies include a variety of congenital degenerative peripheral neuropathies (eg, Charcot-Marie-Tooth disease). (msdmanuals.com)

Erythromelalgia (EM) is a rare autosomal dominant single-gene genetic disorder mainly characterized by burning-pain in the extremities and changes of skin color and structure. (frontiersin.org)
In the field of epidemiology, erythrocyte pain may develop from either primary, resulting from myeloproliferative disorder or secondary, resulting from a hemoglobinopathy, chronic hypoxia, malignancy, or dysregulated erythropoietin production. (frontiersin.org)
CMT2A is usually an autosomal dominant disorder and is axonal. (msdmanuals.com)
This rare and debilitating disorder was first reported and named "erythromelalgia" according to its main symptoms (erythros-red, melos-limbs, algos-pain) by Mitchel in 1878. (biomedcentral.com)
A congenital disorder is any medical condition that is present at birth . (wikidoc.org)
[1] A congenital disorder can be recognized before birth ( prenatally ), at birth, or many years later. (wikidoc.org)
A congenital disorder can have trivial or grave consequences. (wikidoc.org)
Genetic disorder or diseases are all congenital, though they may not be expressed or recognized until later in life. (wikidoc.org)

The hallmark of the disease is the marked loss of pain and temperature sensation in the distal parts of the lower limbs. (wikipedia.org)
HSAN I is characterized by marked sensory disturbances mainly as the loss of pain and temperature sensation in the distal parts of the lower limbs. (wikipedia.org)
Type I features autosomal dominant inheritance and distal sensory involvement. (nih.gov)
Type II is characterized by autosomal inheritance and distal and proximal sensory loss. (nih.gov)
HSAN I has an autosomal dominant inheritance, and the disease is characterized by distal limb involvement with marked sensory loss, including loss of pain sensation, making affected individuals more susceptible to injury. (medscape.com)

Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. (orthopedicshealth.com)
Brain channelopathy prior genetic testing genes (29579) Testing of the following genes should be carried out PRIOR TO RECRUITMENT where this is in line with current local practice: - KCNA1, PRRT2 as appropriate - CACNA1A (only in dominant, long duration episodic ataxia) Closing statement (29579) These requirements will be kept under continual review during the main programme and may be subject to change. (genomicsengland.co.uk)
The term congenital does not imply or exclude a genetic cause . (wikidoc.org)

Congenital defects of metabolism are also considered congenital disorders. (wikidoc.org)

In some patients, a positive family history may clearly show an autosomal dominant inheritance pattern. (frontiersin.org)

This defect is autosomal recessive. (medscape.com)
In particular, people may disagree as to whether a specific physical anomaly should be considered a birth defect or a minor congenital anomaly. (wikidoc.org)
A congenital malformation is a congenital physical anomaly that is deleterious, i.e. a structural defect perceived as a problem. (wikidoc.org)
Birth defect is a widely-used term for a congenital malformation, i.e. a congenital, physical anomaly which is recognizable at birth, and which is significant enough to be considered a problem. (wikidoc.org)

The onset of the disease varies between the 2nd and 5th decade of life, albeit congenital or childhood onset has occasionally been reported. (wikipedia.org)
With the progression of the disease, the affected individuals lose the ability to feel pain in their feet and legs. (wikipedia.org)
Primary erythrocytic (PEM) is a rare autosomal dominant single gene disease. (frontiersin.org)
A congenital metabolic disease is also referred to as an inborn error of metabolism . (wikidoc.org)

At the beginning, affected individuals often notice the loss of pain and temperature sensation or all sensory modalities in their feet. (wikipedia.org)
Affected individuals who do not lose sensation may experience spontaneous pain. (wikipedia.org)
Type V is characterized by a selective loss of pain with intact light touch and vibratory sensation. (nih.gov)
The 8-year-old boy had complained of abnormal paresthesia in his feet and ankles with burning sensation and pain for 2 years. (frontiersin.org)
Vibration, pain, and temperature sensation decreases in a stocking-glove pattern. (msdmanuals.com)

they are usually autosomal dominant disorders but can be recessive or X-linked. (msdmanuals.com)
As one of the human heritable pain disorders, primary erythromelalgia (PE) is characterized by the triad of recurrent burning pain, warmth and redness of the extremities. (biomedcentral.com)
Congenital disorders" is a broad category that includes a variety of conditions. (wikidoc.org)
There are three major types of congenital disorders: 1. (wikidoc.org)

Most types are autosomal dominant and are associated with mutations in COLLAGEN TYPE I . (nih.gov)
A congenital form of DM type 1 is associated with an apparent developmental disability. (rxharun.com)

A congenital physical anomaly is an abnormality of the structure of a body part. (wikidoc.org)

[1] Symptoms often include loose joints, joint pain, stretchy velvety skin, and abnormal scar formation. (wikipedia.org)

[rx] Some physical examination findings include early-onset cataracts (younger than 50 years), varying grip myotonia, proximal muscle weakness or stiffness, hearing loss, and myofascial pain. (rxharun.com)

Inheritance Chong-Hai and Rajagopalan (1977) suggested autosomal recessive inheritance of pachyonychia congenita in a 4-year-old Malaysian girl with first-cousin parents, although they recognized new dominant mutation as a possibility. (findzebra.com)

Congenital Myotonic Dystrophy (CDM) - The congenital form presents in about 15% of cases, with fetal-onset involvement of muscle and the CNS, and typically is seen in those with more than 1,000 repeats. (rxharun.com)

Therefore, we concluded that the use of antihypertensive drugs can treat erythematous limb pain with the clinical manifestation of hypertensive crisis. (frontiersin.org)

Hypotonia, rather than myotonia, is a hallmark of congenital DMI since myotonia or electrical myotonia are seldom present in the first year of life. (rxharun.com)

Pathological pain, on the other hand, is one of the most prevalent symptoms seen in patients. (biomedcentral.com)

Description Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts. (findzebra.com)

Patients with HSAN V present with pain insensitivity and preservation of other sensory modalities. (medscape.com)
Patients' symptoms often worsen over time and many patients develop ulcerations and gangrenes caused by excessive exposure to low temperature in order to relieve pain. (biomedcentral.com)

[3] Complications may include aortic dissection , joint dislocations , scoliosis , chronic pain , or early osteoarthritis . (wikipedia.org)

PE plays a pivotal role in understanding the molecular mechanisms underlying pain caused by neuron hyperexcitability. (biomedcentral.com)

Thereby more precise medications for various types of pain rising from different etiologies are required. (biomedcentral.com)

In general, people with this variant have skin that is soft, smooth, and velvety and bruises easily, and may have chronic muscle and/or bone pain. (wikipedia.org)

Chronic pain has become a global health problem which is estimated to affect about 30 % of adults worldwide [ 1 ]. (biomedcentral.com)

[1] Some cases result from a new variation occurring during early development, while others are inherited in an autosomal dominant or recessive manner. (wikipedia.org)

Diseases4

Analytical, Diagnostic and Therapeutic Techniques and Equipment1

Psychiatry and Psychology1

Phenomena and Processes2

Anhidrosis1

Inherited as an autosomal recessive2

Syndrome10

Deficiency1

Androgen1

Anomalies3

Recessive disorder2

Hypogonadotropic Hypogonadism2

Severe4

Abnormalities2

Neuropathy2

NEUROPATHIES1

Disorder8

Distal5

Genetic3

Defects1

Inheritance pattern1

Defect4

Disease4

Sensation5

Disorders4

Type2

Abnormality1

Abnormal1

Proximal1

Mutation1

Onset1

Limb1

Hallmark1

Pathological1

Clinical1

Patients2

Include1

Molecular1

Types1

Bone1

Chronic1

Manner1