GISTPS
MCID: GST108
MIFTS: 20

Gist-Plus Syndrome (GISTPS)

Categories: Gastrointestinal diseases, Genetic diseases, Skin diseases

Aliases & Classifications for Gist-Plus Syndrome

MalaCards integrated aliases for Gist-Plus Syndrome:

Name: Gist-Plus Syndrome 56 73 17
Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal 73 6
Gistps 56 73
Polyps, Multiple and Recurrent Inflammatory Fibroid, Gastrointestinal, Formerly 56
Gastrointestinal Stromal Tumor/gist-Plus Syndrome, Somatic or Familial 56
Gastrointestinal Stromal Tumor/gist-Plus Syndrome 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
gist-plus syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 175510
MeSH 43 D046152
MedGen 41 C1868000
SNOMED-CT via HPO 68 263681008 35327006 49723003

Summaries for Gist-Plus Syndrome

OMIM : 56 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, 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

UniProtKB/Swiss-Prot : 73 GIST-plus syndrome: A disorder characterized by multiple mesenchymal tumors of the gastrointestinal tract, including gastrointestinal stromal tumor, inflammatory fibroid polyps, and fibroid tumors. Additional features are coarse facies and skin, broad hands and feet, and premature tooth loss. GISTPS is an autosomal dominant disease with incomplete penetrance. Gastrointestinal stromal tumor and inflammatory fibroid polyps may also occur in isolation.

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:

31
# Description HPO Frequency HPO Source Accession
1 intestinal polyposis 31 HP:0200008
2 intussusception 31 HP:0002576

Symptoms via clinical synopsis from OMIM:

56
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:

40
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. 56 6
29486293 2018
2
PDGFRA-mutant syndrome. 56 6
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. 56 6
17566086 2007
4
Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. 56 6
17087943 2006
5
PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. 56 6
14699510 2004
6
PDGFRA activating mutations in gastrointestinal stromal tumors. 56 6
12522257 2003
7
Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease. 56 6
3152525 1988
8
Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14. 56 6
3152526 1988
9
Multiple and recurrent inflammatory fibroid polyps in a Devon family ('Devon polyposis syndrome'): an update. 56
1644320 1992
10
Multiple and recurrent inflammatory fibroid polyps in three generations of a Devon family: a new syndrome. 56
6745724 1984
11
Familial enteric neurofibromatosis. 56
4956347 1966

Variations for Gist-Plus Syndrome

ClinVar genetic disease variations for Gist-Plus Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PDGFRA NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp)SNV Pathogenic 13546 rs121908586 4:55141036-55141036 4:54274869-54274869
2 PDGFRA NM_006206.6(PDGFRA):c.1664A>G (p.Tyr555Cys)SNV Pathogenic 13552 rs121908589 4:55141018-55141018 4:54274851-54274851
3 PDGFRA PDGFRA, PRO653LEUundetermined variant Pathogenic 635777
4 PDGFRA PDGFRA, ASP846VALundetermined variant Pathogenic 635778
5 PDGFRA NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr)SNV Uncertain significance 13551 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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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