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Ichthyosis-hypotrichosis syndrome
1 OMIM reference -
1 associated gene
4 connected diseases
3 signs/symptoms
Disease Type of connection
Familial retinal arterial macroaneurysm
Cardiomyopathy - hypotonia - lactic acidosis
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Quebec platelet disorder
Synonym(s):
- Hypotrichosis - congenital ichthyosis
Classification (Orphanet):
- Rare genetic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ST14 Q9Y5Y6606797
Very frequent
- Autosomal recessive inheritance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Ichthyosis / ichthyosiform dermatitis