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HYPT11
MCID: HYP528
MIFTS: 18
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Hypotrichosis 11 (HYPT11)
Categories:
Eye diseases, Genetic diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Hypotrichosis 11:
Characteristics:OMIM:57
Inheritance:
autosomal dominant
Miscellaneous:
intrafamilial variability in degree of hypotrichosis HPO:32Classifications: |
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UniProtKB/Swiss-Prot
:
75
Hypotrichosis 11: A form of hypotrichosis, a condition characterized by the presence of less than the normal amount of hair and abnormal hair follicles and shafts, which are thin and atrophic. The extent of scalp and body hair involvement can be very variable, within as well as between families. HYPT11 is characterized by scanty or absent eyebrows and a highly variable degree of alopecia since birth, ranging from slight thinning of scalp and axillary hair to complete loss of scalp and body hair. Pubic hair remains mainly unaffected.
MalaCards based summary : Hypotrichosis 11, is also known as hypt11. An important gene associated with Hypotrichosis 11 is SNRPE (Small Nuclear Ribonucleoprotein Polypeptide E). Affiliated tissues include eye, and related phenotypes are alopecia and hypotrichosis Disease Ontology : 12 A hypotrichosis that has material basis in a autosomal dominant mutation of SNRPE on chromosome 1q32.1.
Description from OMIM:
615059
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Diseases in the Hypotrichosis family: |
Symptoms via clinical synopsis from OMIM:57Clinical features from OMIM:615059Human phenotypes related to Hypotrichosis 11:32
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MalaCards organs/tissues related to Hypotrichosis 11:41
Eye
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Genes related to Hypotrichosis 11 (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 11:75
ClinVar genetic disease variations for Hypotrichosis 11:6
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Search
GEO
for disease gene expression data for Hypotrichosis 11.
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