FANCONI ANEMIA, COMPLEMENTATION GROUP F
General Information (adopted from Orphanet):
| Synonyms, Signs: |
FANCF |
| Number of Symptoms | 3 |
| OrphanetNr: | |
| OMIM Id: |
603467
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| ICD-10: |
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| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0005528) | Bone marrow hypocellularity | 31 / 7739 | ||||
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(HPO:0003220) | Abnormality of chromosome stability | 98 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Fanconi anemia (FA) is a clinically and genetically heterogeneous disorder that causes genomic instability. Characteristic clinical features include developmental abnormalities in major organ systems, early-onset bone marrow failure, and a high predisposition to cancer. The cellular hallmark of ... |
| Molecular genetics OMIM | De Winter et al. (2000) identified mutations in the FANCF gene in 4 cell lines of Fanconi anemia complementation group F. |