Details of Disease | DrugMAP

General Information of Disease (ID: DISVTV3N)

Disease Name	Martsolf syndrome 1
Synonyms	cataract-intellectual disability-hypogonadism; MARTSOLF syndrome; Martsolf syndrome; cataract-mental retardation-hypogonadism; cataract-intellectual disability-hypogonadism syndrome
Definition	This syndrome is characterized by the association of intellectual deficit, congenital cataract, and hypogonadotropic hypogonadism.
Disease Hierarchy	DISEV092: Congenital hypogonadotropic hypogonadism DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISF77WN: Martsolf syndrome DISVTV3N: Martsolf syndrome 1
Disease Identifiers	MONDO ID MONDO_8000008 UMLS CUI C5542298 OMIM ID 212720 MedGen ID 1778114 Orphanet ID 80

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
RAB3GAP2	OTQTE0GI	Definitive	Autosomal recessive	[1]
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References

1	Case report of four siblings in southeast Turkey with a novel RAB3GAP2 splice site mutation: Warburg micro syndrome or Martsolf syndrome?. Ophthalmic Genet. 2018 Jun;39(3):391-395. doi: 10.1080/13816810.2018.1432065. Epub 2018 Feb 8.