FANCONI ANEMIA, COMPLEMENTATION GROUP M

General Information (adopted from Orphanet):

Synonyms, Signs: FANCM
Number of Symptoms 4
OrphanetNr:
OMIM Id: 614087
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001510) Growth delay 6116422 IBIS 295 / 7739
2
(HPO:0001903) Anemia 6116422 IBIS 289 / 7739
3
(HPO:0003220) Abnormality of chromosome stability 6116422 IBIS 98 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 Meetei et al. (2005) screened cells derived from individuals with Fanconi anemia for FAAP250 mutations by immunoblotting. They detected FAAP250 in cells from individuals with all known complementation groups, implying that if FAAP250 is mutant in individuals with ...