Hypotrichosis-lymphedema-telangiectasia syndrome
... is a congenital syndrome characterized by lymphedema (swelling of tissue due ... Downes M, François M, Ferguson C, Parton RG, Koopman P (August 2009). "Vascular defects in a mouse model of hypotrichosis- ... ISBN 978-1-4160-2999-1. "Hypotrichosis-lymphedema-telangiectasia syndrome". Archived from the original on 2012-02-08. Retrieved ... HOPP syndrome List of cutaneous conditions "Hypotrichosis-lymphedema-telangiectasia syndrome , Genetic and Rare Diseases ...
Marie Unna hereditary hypotrichosis
Hypotrichosis with juvenile macular dystrophy
... (HJMD or CDH3) is an extremely rare congenital disease characterized by sparse ... "Orphanet: Hypotrichosis with juvenile macular degeneration". www.orpha.net. Retrieved 24 June 2019. "Hypotrichose - juvenile ... "A Rare Syndrome: Hypotrichosis with Juvenile Macular Dystrophy (HJMD)". Investigative Ophthalmology & Visual Science. 55 (13): ... Hypotrichosis with juvenile macular dystrophy is an autosomal recessive hereditary disease. It is caused by a combination of ...
Hypotrichosis-acro-osteolysis-onychogryphosis-palmoplantar keratoderma-periodontitis syndrome
... (also known as "HOPP syndrome") ...
List of OMIM disorder codes
TSHR Hypotrichosis and recurrent skin vesicles; 613102; DSC3 Hypotrichosis simplex of scalp; 146520; CDSN Hypotrichosis, ... HR Hypotrichosis, localized, autosomal recessive 2; 604379; LIPH Hypotrichosis, localized, autosomal recessive, 3; 611452; ... P2RY5 Hypotrichosis, localized, autosomal recessive; 607903; DSG4 Hypotrichosis-lymphedema-telangiectasia syndrome; 607823; ... KRT10 Ichthyosis with hypotrichosis; 610765; ST14 Ichthyosis, congenital, autosomal recessive; 612281; ICHYN Ichthyosis, cyclic ...
Canine follicular dysplasia
"Hereditary Alopecia and Hypotrichosis". The Merck Veterinary Manual. 2006. Retrieved 2007-03-04. von Bomhard W, Mauldin E, ...
Sharon Moalem
"Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". The University of Arizona Health Sciences. Moalem S, Brouillard ... "Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". Ramachandran, P.P. (May 17, 2015). "Inheritance". Free Press. " ... Moalem was the lead author on the paper that first described the condition hypotrichosis-lymphedema-telangiectasia-renal defect ... His clinical genetics research led to the discovery of three rare genetic syndromes, hypotrichosis-lymphedema-telangiectasia- ...
Corneodesmosin
SOX18
"Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome". The University of Arizona Health Sciences. Hosking BM, Wang SC ... Mutations in this gene have been associated with recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia (HLTS ... "Hypotrichosis-lymphedema-telangiectasia-renal defect associated with a truncating mutation in the SOX18 gene". Clinical ... "Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema- ...
Eyelash
Law, SK (26 April 2010). "Bimatoprost in the treatment of eyelash hypotrichosis". Clin Ophthalmol. 4: 349-58. doi:10.2147/opth. ... Fagien, Steven (13 April 2010). "Management of hypotrichosis of the eyelashes: Focus on bimatoprost". Clinical, Cosmetic and ... Law, Simon K. (21 April 2010). "Bimatoprost in the treatment of eyelash hypotrichosis". Clinical Ophthalmology. 4: 349-358. doi ... "Management of hypotrichosis of the eyelashes: Focus on bimatoprost". Clinical, Cosmetic and Investigational Dermatology. 3: 39- ...
Management of hair loss
They found the gene P2RY5 causes a rare, inherited form of hair loss called hypotrichosis simplex. It is the first receptor in ... Riahi, RR; Cohen, PR (May 21, 2018). "Topical Treatment of Eyebrow Hypotrichosis with Bimatoprost 0.03% Solution: Case Report ... Law SK (April 2010). "Bimatoprost in the treatment of eyelash hypotrichosis". Clinical Ophthalmology. 4: 349-358. doi:10.2147/ ... is approved by the US Food and Drug Administration to treat hypotrichosis of the eyelashes, in particular to darken and ...
SOFT syndrome
"Orphanet: Short stature onychodysplasia facial dysmorphism hypotrichosis syndrome". www.orpha.net. Retrieved 2022-10-16. Li G, ... August 2012). "Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation". ... "Entry - #614813 - Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis; Soft - OMIM". omim.org. Retrieved 2022 ... and hypotrichosis in two consanguineous Arab families". European Journal of Medical Genetics. 55 (4): 256-264. doi:10.1016/j. ...
Bimatoprost
The medical term for this is treatment of hypotrichosis; however, the U.S. Food and Drug Administration (FDA) approval is for ...
Pure hair-nail type ectodermal dysplasia
Manifestations of this disorder include onychodystrophy and severe hypotrichosis. It represents as an autosomal dominant trait ...
60S ribosomal protein L21
Mutations in the RPL21 gene result in Hypotrichosis simplex of the scalp. GRCh38: Ensembl release 89: ENSG00000122026 - Ensembl ... March 2011). "Mutation in ribosomal protein L21 underlies hereditary hypotrichosis simplex". Human Mutation. 32 (7): 710-4. doi ...
Laboratory rat
Moemeka, A. N.; Hildebrandt, A. L.; Radaskiewicz, P.; King, T. R. (1998). "Shorn (shn): A new mutation causing hypotrichosis in ...
LPAR6
They found that mutations in the gene P2RY5 causes a rare, inherited form of hair loss called hypotrichosis simplex. It is the ... "Hypotrichosis simplex - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved ...
Brazilian hair straightening
... hypotrichosis, chest pain, chest discomfort, emesis, and rash. Girard Gibbs filed a class action lawsuit alleging that ...
Hypohidrotic ectodermal dysplasia
... hypotrichosis). The hair is often light-coloured, brittle, and slow-growing. This condition is also characterized by absent ...
LIPH (gene)
2005). "A novel locus for autosomal recessive form of hypotrichosis maps to chromosome 3q26.33-q27.3". J. Med. Genet. 41 (11): ... 2007). "A mutation in the lipase H (LIPH) gene underlie autosomal recessive hypotrichosis". Hum. Genet. 121 (3-4): 319-25. doi: ...
X-linked recessive inheritance
Hypohidrotic ectodermal dysplasia, presenting with hypohidrosis, hypotrichosis, hypodontia Kabuki syndrome (the KDM6A variant ...
Desmoglein-4
2007). "Localized autosomal recessive hypotrichosis due to a frameshift mutation in the desmoglein 4 gene exhibits extensive ... 2003). "Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and ... "A recurrent intragenic deletion mutation in DSG4 gene in three Pakistani families with autosomal recessive hypotrichosis". J. ... "Desmoglein 4 mutations underlie localized autosomal recessive hypotrichosis in humans, mice, and rats". Journal of ...
Bazex-Dupré-Christol syndrome
Physical findings typically include follicular atrophoderma, multiple basal cell carcinomas, hypotrichosis, and hypohidrosis. ...
Cat skin disorders
These include skin fragility syndrome (Ehlers-Danlos), hereditary hypotrichosis and congenital or hereditary alopecia. Some ...
CDH3 (gene)
Mutations in this gene have been associated with congenital hypotrichosis with juvenile macular dystrophy. CDH3 (gene) has been ...
HR (gene)
Hair loss
Hypotrichosis is a condition of abnormal hair patterns, predominantly loss or reduction. It occurs, most frequently, by the ... Pseudopelade of Brocq Telogen effluvium Tufted folliculitis Genetic forms of localized autosomal recessive hypotrichosis ...
Telangiectasia
"Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema- ... meningeal angiomas and intellectual disabilities Hypotrichosis-lymphedema-telangiectasia syndrome, caused by mutation in ...
Schöpf-Schulz-Passarge syndrome
... hypodontia and hypotrichosis as a possible autosomal recessive trait". Birth Defects Orig. Artic. Ser. 7 (8): 219-21. PMID ... hypotrichosis, nail dystrophies, and eyelid cysts (apocrine hidrocystomas). Patients may also develop syringofibroadenoma and ...
Peter Koopman
... and is defective in humans with hypotrichosis-lymphedema-telangiectasia syndrome. Given the role of lymphatic vessels in tumour ... "Mutations in the Transcription Factor Gene SOX18 Underlie Recessive and Dominant Forms of Hypotrichosis-Lymphedema- ...