Fanconi anemia, complementation group s

Preferred Label : Fanconi anemia, complementation group s;

Symbol : FANCS;

CISMeF acronym : FANCS;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the breast cancer 1 gene (BRCA1, 113705.0038);

Neoplasia : Ovarian cancer; Increased susceptibility to cancer; Breast cancer;

Laboratory abnormalities : Increased chromosomal breakage;

Prefixed ID : #617883;

Details

Origin ID

617883;

UMLS CUI

C4554406;

Automatic exact mappings (from CISMeF team)
- BRCA1 DNA repair associated [ORDO Gene]
- BRCA1 DNA repair associated [HGNC gene]
- BRCA1 wt Allele [NCIt concept]
- Breast Cancer Type 1 Susceptibility Protein [NCIt concept]
- FANCE Gene [NCIt concept]
- Fanconi Anemia Group E Protein [NCIt concept]
- Fanconi anemia complementation group E [DO Concept]
Genes related to phenotype
- Brca1 dna repair-associated protein [OMIM gene]
HPO term(s)
- Anemia [HPO term]
- Anteverted nares [HPO term]
- Autosomal recessive inheritance [HPO term]
- Blepharophimosis [HPO term]
- Breast carcinoma [HPO term]
- Chromosome breakage [HPO term]
- Clinodactyly [HPO term]
- Coarse facial features [HPO term]
- Delayed speech and language development [HPO term]
- Dental malocclusion [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Global developmental delay [HPO term]
- Hypertelorism [HPO term]
- Intellectual disability [HPO term]
- Long eyelashes [HPO term]
- Low anterior hairline [HPO term]
- Macrodontia [HPO term]
- Microcephaly [HPO term]
- Microphthalmia [HPO term]
- Narrow palate [HPO term]
- Ovarian neoplasm [HPO term]
- Prominent nasal bridge [HPO term]
- Proximal placement of thumb [HPO term]
- Short stature [HPO term]
- Sparse hair [HPO term]
- Thick upper lip vermilion [HPO term]
- Upslanted palpebral fissure [HPO term]
ORDO concept(s)
- Fanconi anemia [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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