Details of Disease | DrugMAP

General Information of Disease (ID: DISO3N3T)

Disease Name	X-linked intellectual disability, van Esch type
Synonyms	Van Esch-O'Driscoll syndrome, X-linked recessive; VEODS; mental retardation, X-Linked, syndromic, Van Esch-O'Driscoll type; Van Esch-O'Driscoll syndrome
Definition	X-linked intellectual deficit, Van Esch type is characterized by mild to moderate intellectual deficit associated with low birth weight, short stature, microcephaly and variable hypergonadotropic hypogonadism.
Disease Hierarchy	DISG1YOH: X-linked syndromic intellectual disability DISO3N3T: X-linked intellectual disability, van Esch type
Disease Identifiers	MONDO ID MONDO_0015601 UMLS CUI C4305072 OMIM ID 301030 MedGen ID 930741 Orphanet ID 163976 SNOMED CT ID 718914002

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DTT Molecule(s)

Gene Name	DTT ID	Evidence Level	Mode of Inheritance	REF
POLA1	TTGPJ0U	Strong	CausalMutation	[1]
POLA1	TTGPJ0U	Definitive	X-linked recessive	[1]
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This Disease Is Related to 1 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
POLA1	OT1WXFVY	Definitive	X-linked recessive	[1]
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References

1	Defective DNA Polymerase -Primase Leads to X-Linked Intellectual Disability Associated with Severe Growth Retardation, Microcephaly, and Hypogonadism. Am J Hum Genet. 2019 May 2;104(5):957-967. doi: 10.1016/j.ajhg.2019.03.006. Epub 2019 Apr 18.