Carney-Stratakis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: PARAGANGLIOMA AND GASTROINTESTINAL STROMAL TUMOR
CARNEY-STRATAKIS SYNDROME
GIST
GIST-paraganglioma dyad
Paraganglioma and gastric stromal sarcoma
Carney-Stratakis dyad
Carney dyad
Number of Symptoms 12
OrphanetNr: 97286
OMIM Id: 606864
ICD-10: D44.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Multiple polyglandular tumor
 -Rare endocrine disease
 -Rare genetic disease
 -Rare oncologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000360) Tinnitus Frequent [Orphanet] 29 / 7739
2
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
3
 (HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
4
 (HPO:0100634) Neuroendocrine neoplasm Very frequent [Orphanet] 8 / 7739
5
 (HPO:0002668) Paraganglioma 7 / 7739
6
 (HPO:0006824) Cranial nerve paralysis Frequent [Orphanet] 81 / 7739
7
 (HPO:0006753) Neoplasm of the stomach Very frequent [Orphanet] 13 / 7739
8
 (HPO:0002027) Abdominal pain Frequent [Orphanet] 184 / 7739
9
 (HPO:0002242) Abnormality of the intestine Frequent [Orphanet] 42 / 7739
10
 (HPO:0005214) Intestinal obstruction Frequent [Orphanet] 35 / 7739
11
 (HPO:0002239) Gastrointestinal hemorrhage Frequent [Orphanet] 97 / 7739
12
 (HPO:0100242) Sarcoma Very frequent [Orphanet] 27 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Carney and Stratakis (2002) reported 12 patients (7 male and 5 female) from 5 unrelated families with paraganglioma and gastric stromal sarcoma. The condition appeared to be inherited in an autosomal dominant manner, with incomplete penetrance. Seven patients ...
Molecular genetics OMIM In 6 families with the Carney-Stratakis dyad of paraganglioma and gastric stromal sarcoma, including a family with monozygotic twins previously described by Boccon-Gibod et al. (2004), McWhinney et al. (2007) identified 6 different germline mutations in the SDHB ...