Details of Disease

General Information of Disease (ID: DISBMUUT)

Disease Name Greig cephalopolysyndactyly syndrome
Synonyms polysyndactyly with peculiar skull Shape; Greig syndrome; Greig's syndrome; GCPS; Greig cephalosyndactyly syndrome; Greig cephalopolysyndactyly syndrome; polysyndactyly with peculiars skull shape
Definition Greig cephalopolysyndactyly syndrome (GCPS) is a pleiotropic, multiple congenital anomaly syndrome.
Disease Hierarchy
DIS6SVEE: Syndromic disease
DISFLSDF: Polydactyly-syndactyly-triphalangism
DISBMUUT: Greig cephalopolysyndactyly syndrome
Disease Identifiers
MONDO ID
MONDO_0008287
MESH ID
C537300
UMLS CUI
C0265306
OMIM ID
175700
MedGen ID
120531
Orphanet ID
380
SNOMED CT ID
32985001

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
PGAM2 OT9BE03I Strong Biomarker [1]
GLI3 OTKDOE94 Definitive Autosomal dominant [2]
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References

1 Molecular and cytogenetic analysis in two patients with microdeletions of 7p and Greig syndrome: hemizygosity for PGAM2 and TCRG genes.Genomics. 1990 Nov;8(3):487-91. doi: 10.1016/0888-7543(90)90035-s.
2 The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.