FANCONI ANEMIA, COMPLEMENTATION GROUP O

General Information (adopted from Orphanet):

Synonyms, Signs: FANCO
Number of Symptoms 22
OrphanetNr:
OMIM Id: 613390
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:0003241) External genital hypoplasia 25 / 7739
2
(HPO:0003774) Stage 5 chronic kidney disease 78 / 7739
3
(HPO:0000126) Hydronephrosis 119 / 7739
4
(HPO:0000107) Renal cyst 126 / 7739
5
(HPO:0000028) Cryptorchidism 347 / 7739
6
(HPO:0000113) Polycystic kidney dysplasia 75 / 7739
7
(HPO:0000800) Cystic renal dysplasia 31 / 7739
8
(HPO:0002984) Hypoplasia of the radius 44 / 7739
9
(HPO:0009778) Short thumb 50 / 7739
10
(HPO:0009777) Absent thumb 31 / 7739
11
(HPO:0002023) Anal atresia 135 / 7739
12
(HPO:0004322) Short stature 1232 / 7739
13
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
14
(OMIM) Increased chromosomal breaks in response to cross-linking agents and ionizing radiation 1 / 7739
15
(OMIM) Cellular arrest at G2 of the cell cycle 1 / 7739
16
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
17
(OMIM) Long, slim fingers 1 / 7739
18
(MedDRA:10038031) Rectal atresia 1 / 7739
19
(OMIM) Defect in DNA repair 1 / 7739
20
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
21
(OMIM) Radial anomalies 1 / 7739
22
(OMIM) Duodenal web 1 / 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 Vaz et al. (2010) reported a consanguineous Pakistani family in which 3 sibs had multiple severe congenital abnormalities characteristic of Fanconi anemia. One girl died at 2 months of age with 1 absent and 1 vestigial thumb, a ...
Molecular genetics OMIM By genomewide autozygosity mapping followed by candidate gene sequencing in a Pakistani family with Fanconi anemia, Vaz et al. (2010) identified a homozygous mutation in the RAD51C gene (R258H; 602774.0001) on chromosome 17q21-q24. In vitro functional studies showed ...