FANCONI ANEMIA, COMPLEMENTATION GROUP D2

General Information (adopted from Orphanet):

Synonyms, Signs: FANCONI ANEMIA, COMPLEMENTATION GROUP D
FANCD2
FANCONI PANCYTOPENIA, TYPE 4
FA4
FANCD
FAD2
FACD
Number of Symptoms 41
OrphanetNr:
OMIM Id: 227646
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:0000815) Hypergonadotropic hypogonadism 48 / 7739
2
 (HPO:0000081) Duplicated collecting system 16 / 7739
3
 (HPO:0000085) Horseshoe kidney 39 / 7739
4
 (HPO:0000104) Renal agenesis 68 / 7739
5
 (HPO:0012210) Abnormal renal morphology 18 / 7739
6
 (HPO:0000086) Ectopic kidney 29 / 7739
7
 (HPO:0000028) Cryptorchidism 347 / 7739
8
 (HPO:0000252) Microcephaly 832 / 7739
9
 (HPO:0000568) Microphthalmia 183 / 7739
10
 (HPO:0000486) Strabismus 576 / 7739
11
 (HPO:0000598) Abnormality of the ear 98 / 7739
12
 (HPO:0000365) Hearing impairment 539 / 7739
13
 (HPO:0001249) Intellectual disability 1089 / 7739
14
 (HPO:0009778) Short thumb 50 / 7739
15
 (HPO:0009943) Complete duplication of thumb phalanx 8 / 7739
16
 (HPO:0003974) Absent radius 26 / 7739
17
 (HPO:0001172) Abnormality of the thumb 103 / 7739
18
 (HPO:0009777) Absent thumb 31 / 7739
19
 (HPO:0001518) Small for gestational age 107 / 7739
20
 (HPO:0004322) Short stature 1232 / 7739
21
 (HPO:0000957) Cafe-au-lait spot 84 / 7739
22
 (HPO:0001000) Abnormality of skin pigmentation 105 / 7739
23
 (HPO:0001017) Anemic pallor 5 / 7739
24
 (HPO:0000978) Bruising susceptibility 123 / 7739
25
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
26
 (HPO:0001875) Neutropenia 83 / 7739
27
 (HPO:0001896) Reticulocytopenia 12 / 7739
28
 (HPO:0001876) Pancytopenia 89 / 7739
29
 (HPO:0001873) Thrombocytopenia 224 / 7739
30
 (HPO:0001892) Abnormal bleeding 85 / 7739
31
 (HPO:0001903) Anemia 289 / 7739
32
 (HPO:0001909) Leukemia 46 / 7739
33
 (HPO:0003214) Prolonged G2 phase of cell cycle 5 / 7739
34
 (HPO:0003221) Chromosomal breakage induced by crosslinking agents 8 / 7739
35
 (HPO:0003220) Abnormality of chromosome stability 98 / 7739
36
 (HPO:0003213) Deficient excision of UV-induced pyrimidine dimers in DNA 5 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (OMIM) Duplicated kidney 4 / 7739
39
 (HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
40
 (OMIM) Hyperpigmentation 24 / 7739
41
 (OMIM) Chromosomal breakage induced by diepoxybutane (DEB), and mitomycin C 3 / 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 Using complementation assays and immunoblotting, a consortium of American and European groups assigned 29 patients with Fanconi anemia from 23 families and 4 additional unrelated patients to complementation group FA-D2 (Kalb et al., 2007). This amounts to 3 ...
Molecular genetics OMIM Timmers et al. (2001) identified the D2 complementation group of Fanconi anemia by analysis of cell lines (PD20, VU008, and PD733) from 3 unrelated families with FANCD. Retroviral transduction of the cloned FANCD2 cDNA into FANCD2 cells resulted ...