HYPT13
MCID: HYP577
MIFTS: 34
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Hypotrichosis 13 (HYPT13)
Categories:
Eye diseases, Genetic diseases, Oral diseases, Rare diseases
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MalaCards integrated aliases for Hypotrichosis 13:
Characteristics:Inheritance:
Autosomal dominant 57
OMIM®:57 (Updated 08-Dec-2022)
Miscellaneous:
symptoms improve with age, resulting in woolly hair with almost normal hair density based on the report of 1 japanese family (last curated july 2014) Classifications: |
UniProtKB/Swiss-Prot: 73 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. HYPT13 is an autosomal dominant form characterized by sparse woolly hair. MalaCards based summary: Hypotrichosis 13, also known as hypotrichosis with woolly hair, is related to hypotrichosis 1 and woolly hair, autosomal recessive 3. An important gene associated with Hypotrichosis 13 is KRT71 (Keratin 71), and among its related pathways/superpathways are Nervous system development and Integrated breast cancer pathway. Related phenotypes are woolly hair and sparse eyelashes Disease Ontology: 11 A hypotrichosis that has material basis in a autosomal dominant mutation of KRT71 on chromosome 12q13.13. |
Human phenotypes related to Hypotrichosis 13:30
Symptoms via clinical synopsis from OMIM®:57 (Updated 08-Dec-2022)Clinical features from OMIM®:615896 (Updated 08-Dec-2022) |
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Articles related to Hypotrichosis 13:
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ClinVar genetic disease variations for Hypotrichosis 13:5
UniProtKB/Swiss-Prot genetic disease variations for Hypotrichosis 13:73
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Search
GEO
for disease gene expression data for Hypotrichosis 13.
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Pathways related to Hypotrichosis 13 according to GeneCards Suite gene sharing:
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Cellular components related to Hypotrichosis 13 according to GeneCards Suite gene sharing:
Biological processes related to Hypotrichosis 13 according to GeneCards Suite gene sharing:
Molecular functions related to Hypotrichosis 13 according to GeneCards Suite gene sharing:
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