Gist-Plus Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Gastrointestinal diseases Skin diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁶ 175510

MeSH ⁴³ D046152

MedGen ⁴¹ C1868000

SNOMED-CT via HPO ⁶⁸ 263681008 35327006 49723003

EFO ¹⁷ EFO_0010279

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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.

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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

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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

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Drugs & Therapeutics for Gist-Plus Syndrome

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

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Genetic Tests for Gist-Plus Syndrome

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Anatomical Context for Gist-Plus Syndrome

MalaCards organs/tissues related to Gist-Plus Syndrome:

⁴⁰

Skin

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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	Manley PN...Walia JS	29486293	2018
2	PDGFRA-mutant syndrome. ⁶ ⁵⁶	Ricci R...Larocca LM	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. ⁶ ⁵⁶	Pasini B...Stratakis CA	17566086	2007
4	Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. ⁶ ⁵⁶	de Raedt T...Legius E	17087943	2006
5	PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. ⁶ ⁵⁶	Chompret A...Bressac-De Paillerets B	14699510	2004
6	PDGFRA activating mutations in gastrointestinal stromal tumors. ⁶ ⁵⁶	Heinrich MC...Fletcher JA	12522257	2003
7	Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease. ⁵⁶ ⁶	Heimann R...Hecht F	3152525	1988
8	Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14. ⁶ ⁵⁶	Verhest A...Hecht F	3152526	1988
9	Multiple and recurrent inflammatory fibroid polyps in a Devon family ('Devon polyposis syndrome'): an update. ⁵⁶	Allibone RO...Anthony PP	1644320	1992
10	Multiple and recurrent inflammatory fibroid polyps in three generations of a Devon family: a new syndrome. ⁵⁶	Anthony PP...Vowles KD	6745724	1984
11	Familial enteric neurofibromatosis. ⁵⁶	Lipton S...Zuckerbrod M	4956347	1966

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Genes for Gist-Plus Syndrome

Genes related to Gist-Plus Syndrome (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PDGFRA	Platelet Derived Growth Factor Receptor Alpha	Protein Coding	1217.24	Molecular basis known ⁵⁶ Pathogenic ⁶ Causative variation ⁷³ GeneCards inferred via : Disorders Variants (show sections)	3152525 3152526 25975287 (more) 17566086 14699510 12522257 29486293 17087943

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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	PDGFRA, PRO653LEU	undetermined variant	Pathogenic	635777
2	PDGFRA	PDGFRA, ASP846VAL	undetermined variant	Pathogenic	635778
3	PDGFRA	NM_006206.6(PDGFRA):c.1682T>A (p.Val561Asp)	SNV	Pathogenic	13546	rs121908586	4:55141036-55141036	4:54274869-54274869
4	PDGFRA	NM_006206.6(PDGFRA):c.1664A>G (p.Tyr555Cys)	SNV	Pathogenic	13552	rs121908589	4:55141018-55141018	4:54274851-54274851
5	PDGFRA	NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr)	SNV	Uncertain significance	13551	rs121908588	4:55152104-55152104	4:54285937-54285937

UniProtKB/Swiss-Prot genetic disease variations for Gist-Plus Syndrome:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	PDGFRA	p.Tyr555Cys	VAR_083158

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Expression for Gist-Plus Syndrome

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

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Pathways for Gist-Plus Syndrome

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GO Terms for Gist-Plus Syndrome

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Gist-Plus Syndrome (GISTPS)

Aliases & Classifications for Gist-Plus Syndrome

MalaCards integrated aliases for Gist-Plus Syndrome:

Characteristics:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Gist-Plus Syndrome

Related Diseases for Gist-Plus Syndrome

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

Symptoms & Phenotypes for Gist-Plus Syndrome

Human phenotypes related to Gist-Plus Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Gist-Plus Syndrome

Genetic Tests for Gist-Plus Syndrome

Anatomical Context for Gist-Plus Syndrome

MalaCards organs/tissues related to Gist-Plus Syndrome:

Publications for Gist-Plus Syndrome

Articles related to Gist-Plus Syndrome:

Genes for Gist-Plus Syndrome

Genes related to Gist-Plus Syndrome (1 elite genes):

Variations for Gist-Plus Syndrome

ClinVar genetic disease variations for Gist-Plus Syndrome:

UniProtKB/Swiss-Prot genetic disease variations for Gist-Plus Syndrome:

Expression for Gist-Plus Syndrome

Pathways for Gist-Plus Syndrome

GO Terms for Gist-Plus Syndrome

Sources for Gist-Plus Syndrome