Details of Disease

General Information of Disease (ID: DISN8GYD)

Disease Name Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Synonyms short stature, onychodysplasia, facial dysmorphism, and hypotrichosis; soft; soft syndrome
Definition Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.
Disease Hierarchy
DISZ93BO: Primordial dwarfism and slender bone disorder
DIS6SVEE: Syndromic disease
DISN8GYD: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Disease Identifiers
MONDO ID
MONDO_0013894
UMLS CUI
C3542022
OMIM ID
614813
MedGen ID
762199
Orphanet ID
314394
SNOMED CT ID
773625007

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
POC1A OTXAG4PL Strong Autosomal recessive [1]
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References

1 POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. Am J Hum Genet. 2012 Aug 10;91(2):330-6. doi: 10.1016/j.ajhg.2012.05.025. Epub 2012 Jul 26.