GISTPS
MCID: GST108
MIFTS: 18

Gist-Plus Syndrome (GISTPS)

Categories: Gastrointestinal diseases, Genetic diseases

Aliases & Classifications for Gist-Plus Syndrome

MalaCards integrated aliases for Gist-Plus Syndrome:

Name: Gist-Plus Syndrome 57
Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal, Formerly 57
Gastrointestinal Stromal Tumor/gist-Plus Syndrome, Somatic or Familial 57
Gistps 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
gist-plus syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 175510
MedGen 42 C1868000

Summaries for Gist-Plus Syndrome

OMIM : 57 GIST-plus syndrome (GISTPS) is an autosomal dominant disorder characterized by incomplete penetrance of multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor (GIST), inflammatory fibroid polyps (IFP), and fibroid tumors (FT). Some patients have been reported with coarse facies and skin, broad hands and feet, and premature tooth loss. Isolated GISTs and IFPs are seen in patients with somatic PDGFRA mutations (summary by Manley et al., 2018). (175510)

MalaCards based summary : Gist-Plus Syndrome, also known as polyps, multiple and recurrent inflammatory fibroid, gastrointestinal, formerly, is related to gastrointestinal stromal tumor. An important gene associated with Gist-Plus Syndrome is PDGFRA (Platelet Derived Growth Factor Receptor Alpha). Affiliated tissues include skin, and related phenotypes are intestinal polyposis and intussusception

Related Diseases for Gist-Plus Syndrome

Diseases related to Gist-Plus Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 11.5

Symptoms & Phenotypes for Gist-Plus Syndrome

Human phenotypes related to Gist-Plus Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 intestinal polyposis 32 HP:0200008
2 intussusception 32 HP:0002576

Symptoms via clinical synopsis from OMIM:

57
G I:
intussusception
multiple inflammatory fibroid polyps
solitary polyps of stomach and ileum

Lab:
polyps consist of loosely organized, vascular and fibrous tissue with a variable number of eosinophils
polypoid self-limiting histiocytic proliferation

Clinical features from OMIM:

175510

Drugs & Therapeutics for Gist-Plus Syndrome

Search Clinical Trials , NIH Clinical Center for Gist-Plus Syndrome

Genetic Tests for Gist-Plus Syndrome

Anatomical Context for Gist-Plus Syndrome

MalaCards organs/tissues related to Gist-Plus Syndrome:

41
Skin

Publications for Gist-Plus Syndrome

Articles related to Gist-Plus Syndrome:

(show all 11)
# Title Authors PMID Year
1
Familial PDGFRA-mutation syndrome: somatic and gastrointestinal phenotype. 8 71
29486293 2018
2
PDGFRA-mutant syndrome. 8 71
25975287 2015
3
Multiple gastrointestinal stromal and other tumors caused by platelet-derived growth factor receptor alpha gene mutations: a case associated with a germline V561D defect. 8 71
17566086 2007
4
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 8 71
17087943 2006
5
PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. 8 71
14699510 2004
6
PDGFRA activating mutations in gastrointestinal stromal tumors. 8 71
12522257 2003
7
Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease. 8 71
3152525 1988
8
Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14. 8 71
3152526 1988
9
Multiple and recurrent inflammatory fibroid polyps in a Devon family ('Devon polyposis syndrome'): an update. 8
1644320 1992
10
Multiple and recurrent inflammatory fibroid polyps in three generations of a Devon family: a new syndrome. 8
6745724 1984
11
Familial enteric neurofibromatosis. 8
4956347 1966

Variations for Gist-Plus Syndrome

ClinVar genetic disease variations for Gist-Plus Syndrome:

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PDGFRA NM_006206.6(PDGFRA): c.1682T> A (p.Val561Asp) single nucleotide variant Pathogenic rs121908586 4:55141036-55141036 4:54274869-54274869
2 PDGFRA NM_006206.6(PDGFRA): c.1664A> G (p.Tyr555Cys) single nucleotide variant Pathogenic rs121908589 4:55141018-55141018 4:54274851-54274851
3 PDGFRA PDGFRA, PRO653LEU undetermined variant Pathogenic
4 PDGFRA PDGFRA, ASP846VAL undetermined variant Pathogenic
5 PDGFRA NM_006206.6(PDGFRA): c.2536G> T (p.Asp846Tyr) single nucleotide variant Uncertain significance rs121908588 4:55152104-55152104 4:54285937-54285937

Expression for Gist-Plus Syndrome

Search GEO for disease gene expression data for Gist-Plus Syndrome.

Pathways for Gist-Plus Syndrome

GO Terms for Gist-Plus Syndrome

Sources for Gist-Plus Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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