FANCONI ANEMIA, COMPLEMENTATION GROUP G

General Information (adopted from Orphanet):

Synonyms, Signs: FANCG
Number of Symptoms 11
OrphanetNr:
OMIM Id: 614082
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0000252) Microcephaly 14/22 [HPO:probinson] 11093276 IBIS 832 / 7739
2
(HPO:0000568) Microphthalmia 8/22 [HPO:probinson] 11093276 IBIS 183 / 7739
3
(HPO:0001172) Abnormality of the thumb 11093276 IBIS 103 / 7739
4
(HPO:0001510) Growth delay 19/23 [HPO:probinson] 11093276 IBIS 295 / 7739
5
(HPO:0007565) Multiple cafe-au-lait spots 11093276 IBIS 11 / 7739
6
(HPO:0002863) Myelodysplasia 11093276 IBIS 30 / 7739
7
(HPO:0001903) Anemia 11093276 IBIS 289 / 7739
8
(HPO:0001909) Leukemia 11093276 IBIS 46 / 7739
9
(HPO:0001875) Neutropenia 11093276 IBIS 83 / 7739
10
(HPO:0001873) Thrombocytopenia 11093276 IBIS 224 / 7739
11
(HPO:0003220) Abnormality of chromosome stability 11093276 IBIS 98 / 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 ...
Clinical Description OMIM In 20 patients with FANCG, 4 of whom had been reported by de Winter et al. (1998), Demuth et al. (2000) found that the phenotypic heterogeneity characteristic of FA was clearly demonstrated, even within sib pairs showing discordance ...
Molecular genetics OMIM In patients with Fanconi anemia of complementation group G, de Winter et al. (1998) identified mutations in the XRCC9 (FANCG) gene (602956.0001-602956.0002).

Demuth et al. (2000) identified 18 different mutations in the FANCG gene in a ...