Details of Disease

General Information of Disease (ID: DISCMK4N)

Disease Name Goldberg-Shprintzen syndrome
Synonyms megacolon-microcephaly syndrome; Goldberg-Shprintzen syndrome; GOSHS; Goldberg-Shprintzen megacolon syndrome
Definition
A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability.|This term's classification was reviewed in the context of the Strategic Refinement project (2023) and was determined to be excluded from the 'disorder of visual system' (MONDO:0024458) ontology branch (https://orcid.org/0000-0001-9310-0163)
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISYKSRF: Genetic disease
DISBI73X: Intestinal motility disease
DISDOXWZ: Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
DISCMK4N: Goldberg-Shprintzen syndrome
Disease Identifiers
MONDO ID
MONDO_0012280
MESH ID
C537279
UMLS CUI
C1836123
OMIM ID
609460
MedGen ID
332131
Orphanet ID
66629
SNOMED CT ID
717822006

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
KIFBP OT1XADKG Definitive Autosomal recessive [1]
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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.