Carney-Stratakis syndrome

Carney-Stratakis syndrome is a recently described familial syndrome characterized by gastrointestinal stromal tumors (GIST) and paragangliomas, often at multiple sites.



Input patient's signs and symptoms


Narrow down the case reports



Total: 7 (papers)

  


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)
PMID
(PMCID)
1
(4.0%)
28931294
[Carney triad].
Fiala L, Kocakova I, imunek R, Kreji E, Babankova I, efr R.
Rozhl Chir. 0000;96(6):267-272.
Pheochromocytoma
CHGA SDHB SDHC SDHD
Adult Chondroma Extra-Adrenal Paraganglioma Females Gastrointestinal Stromal Tumors Homo sapiens Lung Neoplasms Middle Aged Stomach Neoplasms
1
(4.0%)
26895210
Bronchial Paraganglioma with SDHB Deficiency.
Ghigna MR, Dorfmuller P, Crutu A, Fadel E, de Montpreville VT.
Endocr Pathol. 2016;27(4):332-337.
Neoplasm
CHGA PDGFRA SDHB SYP
Bronchial Neoplasms Extra-Adrenal Paraganglioma Females Gastrointestinal Stromal Tumors Homo sapiens Paraganglioma Succinate Dehydrogenase Young Adult
1
(4.0%)
25883251
Resection of a large carotid paraganglioma in Carney-Stratakis syndrome: a multidisciplinary feat.
Nicholas RS, Quddus A, Topham C, Baker D.
BMJ Case Rep. 2015;2015:.
Palpitations
SDS
Adult Carotid Body Carotid Body Paraganglioma Gastrointestinal Neoplasms Gastrointestinal Stromal Tumors Germ-Line Mutation Homo sapiens Male Paraganglioma
1
(4.0%)
25288237
Synchronous adrenocortical neoplasms, paragangliomas, and pheochromocytomas: syndromic considerations regarding an unusual constellation of endocrine tumors.
LeBlanc M, Tabrizi M, Kapsner P, Hanson JA.
Hum Pathol. 2014;45(12):2502-6.
Neoplasm
Chondroma Extra-Adrenal Paraganglioma Females Homo sapiens Lung Neoplasms Neoplasms, Multiple Primary Paraganglioma Pheochromocytoma Stomach Neoplasms Young Adult
1
(4.0%)
22790652
[A 47-year-old patient with paroxysmal arterial hypertension and gastric tumors].
Schirpenbach C, Hoppert T, Aleksic I, Neumann HP, Hahner S, Fassnacht M, Allolio B.
Internist (Berl). 2012;53(9):1119-24.
Hypertension
Females Homo sapiens Middle Aged Paraganglioma Stomach Neoplasms
1
(4.0%)
20119652
Carney triad versus Carney Stratakis syndrome: two cases which illustrate the difficulty in distinguishing between these conditions in individual patients.
Alrashdi I, Bano G, Maher ER, Hodgson SV.
Fam Cancer. 2010;9(3):443-7.
Paraganglioma
rs34261028 rs397516836 rs398122328
Adrenal Gland Neoplasms Adult Carney Complex Chondroma Females Gastrointestinal Stromal Tumors Homo sapiens Lung Neoplasms Male Middle Aged Paraganglioma Pheochromocytoma Skin Neoplasms Succinate Dehydrogenase
1
(4.0%)
20098451
Paraganglioma syndrome type 1 in a patient with Carney-Stratakis syndrome.
Ayala-Ramirez M, Callender GG, Kupferman ME, Rich TA, Chuang HH, Trent J, Perrier ND, Goodarzi M, Jimenez C.
Nat Rev Endocrinol. 2010;6(2):110-5.
Hypertension
CHGA KIT SDHD
p|DEL|579|D,KIT rs104894308
Adrenal Gland Neoplasms Adult Carney Complex Chromogranin A Gastrointestinal Stromal Tumors Gene Transfer Techniques Homo sapiens Lymphatic Metastasis Male Metanephrine Mutation Neck Paraganglioma Pheochromocytoma Positron-Emission Tomography Proto-Oncogene Protein c-kit Succinate Dehydrogenase Syndrome Tomography, Emission-Computed, Single-Photon X-Ray Computed Tomography
        

Phenotype(s) retrieved from Orphanet

    Total: 10

HPO ID Term Frequency
HP:0002668 Paraganglioma Very frequent (99-80%)
HP:0100723 Gastrointestinal stroma tumor Very frequent (99-80%)
HP:0000360 Tinnitus Frequent (79-30%)
HP:0000365 Hearing impairment Frequent (79-30%)
HP:0001824 Weight loss Frequent (79-30%)
HP:0002015 Dysphagia Frequent (79-30%)
HP:0002027 Abdominal pain Frequent (79-30%)
HP:0002239 Gastrointestinal hemorrhage Frequent (79-30%)
HP:0005214 Intestinal obstruction Frequent (79-30%)
HP:0006824 Cranial nerve paralysis Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 4

HPO ID Term # of case reports
HP:0002668 Paraganglioma 4
HP:0002666 Pheochromocytoma 2
HP:0031474 Pulmonary chondroma 1
HP:0100635 Carotid paraganglioma 1


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
SDHB succinate dehydrogenase complex iron sulfur subunit B 6390
SDHC succinate dehydrogenase complex subunit C 6391
SDHD succinate dehydrogenase complex subunit D 6392