Details of Disease | DrugMAP

General Information of Disease (ID: DISE8Q7Q)

Disease Name	Oculocerebrofacial syndrome, Kaufman type
Synonyms	severe intellectual disability, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet; Kaufman oculocerebrofacial syndrome; severe mental retardation, microcephaly, long narrow face, ocular anomalies, and long thin hands and feet; KOS; kos; BPIDS; oculocerebrofacial syndrome, Kaufman type; blepharophimosis-ptosis-intellectual disability syndrome
Disease Hierarchy	DIS6SVEE: Syndromic disease DISYKSRF: Genetic disease DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISE8Q7Q: Oculocerebrofacial syndrome, Kaufman type
Disease Identifiers	MONDO ID MONDO_0009485 MESH ID C537013 UMLS CUI C1855663 OMIM ID 244450 MedGen ID 343403 Orphanet ID 2707 SNOMED CT ID 722056009

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 2 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
UBE3B	OTJEDWX8	Definitive	Autosomal recessive	[1]
PTPN4	OT6SXU5Y	Strong	Altered Expression	[2]
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References

1	Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
2	Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region.J Hum Genet. 2016 Feb;61(2):87-94. doi: 10.1038/jhg.2015.113. Epub 2015 Sep 17.