Details of Disease | DrugMAP

General Information of Disease (ID: DISOOFEZ)

Disease Name	Cohen syndrome
Synonyms	hypotonia, obesity, and prominent incisors; COH1; Coh; Chs1, formerly; pepper syndrome; Chs1; Cohen syndrome; cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
Definition	Cohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
Disease Hierarchy	DIS2BIP8: Congenital nervous system disorder DISH7SDF: Syndromic intellectual disability DISD715V: Hereditary neurological disease DISZ74WG: Constitutional neutropenia DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability DISOOFEZ: Cohen syndrome
Disease Identifiers	MONDO ID MONDO_0008999 MESH ID C536438 UMLS CUI C0265223 OMIM ID 216550 MedGen ID 78539 Orphanet ID 193 SNOMED CT ID 56604005

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)

This Disease Is Related to 5 DOT Molecule(s)

Gene Name	DOT ID	Evidence Level	Mode of Inheritance	REF
VPS13B	OTADYOTN	Definitive	Autosomal recessive	[1]
BBS1	OTXSXB1K	moderate	Biomarker	[2]
LYST	OTIUB1B3	moderate	Biomarker	[3]
COX6C	OT3V7JE5	Strong	Genetic Variation	[4]
SERPINB1	OT5RDUFO	Strong	Altered Expression	[5]
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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	MORM syndrome (mental retardation, truncal obesity, retinal dystrophy and micropenis), a new autosomal recessive disorder, links to 9q34.Eur J Hum Genet. 2006 May;14(5):543-8. doi: 10.1038/sj.ejhg.5201577.
3	Cohen syndrome gene assigned to the long arm of chromosome 8 by linkage analysis.Nat Genet. 1994 Jun;7(2):201-4. doi: 10.1038/ng0694-201.
4	Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.JAMA. 2016 Aug 16;316(7):734-42. doi: 10.1001/jama.2016.11139.
5	Serpin B1 defect and increased apoptosis of neutrophils in Cohen syndrome neutropenia.J Mol Med (Berl). 2019 May;97(5):633-645. doi: 10.1007/s00109-019-01754-4. Epub 2019 Mar 7.