FANCONI ANEMIA, COMPLEMENTATION GROUP E

General Information (adopted from Orphanet):

Synonyms, Signs: FANCE
FACE
Number of Symptoms 39
OrphanetNr:
OMIM Id: 600901
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:0000104) Renal agenesis 68 / 7739
2
(HPO:0000086) Ectopic kidney 29 / 7739
3
(HPO:0000081) Duplicated collecting system 16 / 7739
4
(HPO:0000085) Horseshoe kidney 39 / 7739
5
(HPO:0000028) Cryptorchidism 347 / 7739
6
(HPO:0000815) Hypergonadotropic hypogonadism 48 / 7739
7
(HPO:0000568) Microphthalmia 183 / 7739
8
(HPO:0000252) Microcephaly 832 / 7739
9
(HPO:0000486) Strabismus 576 / 7739
10
(HPO:0000365) Hearing impairment 539 / 7739
11
(HPO:0001249) Intellectual disability 1089 / 7739
12
(HPO:0009778) Short thumb 50 / 7739
13
(HPO:0009943) Complete duplication of thumb phalanx 8 / 7739
14
(HPO:0009777) Absent thumb 31 / 7739
15
(HPO:0003974) Absent radius 26 / 7739
16
(HPO:0004322) Short stature 1232 / 7739
17
(HPO:0001518) Small for gestational age 107 / 7739
18
(HPO:0000978) Bruising susceptibility 123 / 7739
19
(HPO:0000957) Cafe-au-lait spot 84 / 7739
20
(HPO:0001017) Anemic pallor 5 / 7739
21
(HPO:0001000) Abnormality of skin pigmentation 105 / 7739
22
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
23
(HPO:0001876) Pancytopenia 89 / 7739
24
(HPO:0001875) Neutropenia 83 / 7739
25
(HPO:0001909) Leukemia 46 / 7739
26
(HPO:0001873) Thrombocytopenia 224 / 7739
27
(HPO:0001896) Reticulocytopenia 12 / 7739
28
(HPO:0001903) Anemia 289 / 7739
29
(HPO:0003221) Chromosomal breakage induced by crosslinking agents 8 / 7739
30
(HPO:0003213) Deficient excision of UV-induced pyrimidine dimers in DNA 5 / 7739
31
(HPO:0003214) Prolonged G2 phase of cell cycle 5 / 7739
32
(OMIM) Multiple chromosomal breaks. Chromosomal breakage induced by diepoxybutane (DEB), and mitomycin C. Deficient excision of UV-induced pyrimidine dimers in DNA. Prolonged G2 phase of cell cycle. 1 / 7739
33
(OMIM) Anemic pallor. Bruisability. Pigmentary changes. Hyperpigmentation. Cafe-au-lait spots. 1 / 7739
34
(OMIM) Microcephaly. Strabismus. Microphthalmia. Ear anomaly. Deafness. 1 / 7739
35
(OMIM) Low birth weight. Small stature. 1 / 7739
36
(OMIM) Anemia. Neutropenia. Thrombocytopenia. Reticulocytopenia. Pancytopenia. Bleeding. Leukemia. 1 / 7739
37
(HPO:0030680) Abnormality of cardiovascular system morphology 355 / 7739
38
(OMIM) Radial aplasia. Thumb deformity. Thumb aplasia. Thumb hypoplasia. Duplicated thumb. 1 / 7739
39
(OMIM) Kidney malformation. Absent kidney. Duplicated kidney. Duplicated collecting system. Horseshoe kidney. Renal ectopia. Hypergonadotropic hypogonadism. Cryptorchidism. 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Fanconi anemia (FA) is characterized by bone marrow failure, developmental abnormalities, cancer predisposition, and cellular hypersensitivity to DNA cross-linking agents such as mitomycin C (summary by de Winter et al., 2000).

For additional general information and ...

Clinical Description OMIM Joenje et al. (1995) presented evidence for a fifth subtype of Fanconi anemia, designated group E. Buchwald (1995) stated that 6 of 31 patients (12.7%) could be classified as group E. The FACE group is defined as being ...
Molecular genetics OMIM In 3 patients with Fanconi anemia, 2 from Turkey and 1 from Bangladesh, de Winter et al. (2000) identified homozygous mutations in the FANCE gene (613976.0001-613976.0003).