FANCONI ANEMIA, COMPLEMENTATION GROUP Q

General Information (adopted from Orphanet):

Synonyms, Signs: FANCQ
Number of Symptoms 12
OrphanetNr:
OMIM Id: 615272
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

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

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 832 / 7739
2
(HPO:0000369) Low-set ears 372 / 7739
3
(HPO:0009777) Absent thumb 31 / 7739
4
(HPO:0002032) Esophageal atresia 19 / 7739
5
(HPO:0005912) Biliary atresia 5 / 7739
6
(HPO:0001510) Growth delay 295 / 7739
7
(HPO:0004322) Short stature 1232 / 7739
8
(HPO:0005528) Bone marrow hypocellularity 31 / 7739
9
(HPO:0003812) Phenotypic variability 129 / 7739
10
(OMIM) Patient cells show increased chromosome breakage 1 / 7739
11
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
12
(HPO:0003593) Infantile onset 249 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fanconi anemia (FA) is a rare genomic instability disorder characterized by bone marrow failure, congenital malformations, hypersensitivity to DNA interstrand crosslink-inducing agents, chromosome fragility, and high susceptibility to cancer (summary by Bogliolo et al., 2013).

For ...

Clinical Description OMIM Bogliolo et al. (2013) reported 2 unrelated patients, of Spanish and German origin, respectively, with an unclassified form of Fanconi anemia. The first patient presented in the neonatal period with bilateral absent thumbs, microsomy, esophageal atresia, a ventrally ...
Molecular genetics OMIM By exome sequencing of a girl with Fanconi anemia, Bogliolo et al. (2013) identified compound heterozygous mutations in the ERCC4 gene (133520.0004 and 133520.0005). Direct sequencing of this gene in 18 patients with unclassified Fanconi anemia revealed 1 ...