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 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:

MalaCards categories:
Global: Genetic diseases
Anatomical: Gastrointestinal diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 175510

MedGen ⁴² C1868000

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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

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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:

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

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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:

⁴¹

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. ⁸ ⁷¹	Manley PN...Walia JS	29486293	2018
2	PDGFRA-mutant syndrome. ⁸ ⁷¹	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. ⁸ ⁷¹	Pasini B...Stratakis CA	17566086	2007
4	Intestinal neurofibromatosis is a subtype of familial GIST and results from a dominant activating mutation in PDGFRA. ⁸ ⁷¹	de Raedt T...Legius E	17087943	2006
5	PDGFRA germline mutation in a family with multiple cases of gastrointestinal stromal tumor. ⁸ ⁷¹	Chompret A...Bressac-De Paillerets B	14699510	2004
6	PDGFRA activating mutations in gastrointestinal stromal tumors. ⁸ ⁷¹	Heinrich MC...Fletcher JA	12522257	2003
7	Hereditary intestinal neurofibromatosis. I. A distinctive genetic disease. ⁸ ⁷¹	Heimann R...Hecht F	3152525	1988
8	Hereditary intestinal neurofibromatosis. II. Translocation between chromosomes 12 and 14. ⁸ ⁷¹	Verhest A...Hecht F	3152526	1988
9	Multiple and recurrent inflammatory fibroid polyps in a Devon family ('Devon polyposis syndrome'): an update. ⁸	Allibone RO...Anthony PP	1644320	1992
10	Multiple and recurrent inflammatory fibroid polyps in three generations of a Devon family: a new syndrome. ⁸	Anthony PP...Vowles KD	6745724	1984
11	Familial enteric neurofibromatosis. ⁸	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	900	Molecular basis known ⁵⁷ Pathogenic ⁶	12522257 3152525 3152526 (more) 17087943 17566086 25975287 29486293 14699510

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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

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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:

Expression for Gist-Plus Syndrome

Pathways for Gist-Plus Syndrome

GO Terms for Gist-Plus Syndrome

Sources for Gist-Plus Syndrome