MCID: FNC057
MIFTS: 20

Fanconi Anemia, Complementation Group U

Categories: Genetic diseases, Blood diseases, Rare diseases, Nephrological diseases, Bone diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Fanconi Anemia, Complementation Group U

MalaCards integrated aliases for Fanconi Anemia, Complementation Group U:

Name: Fanconi Anemia, Complementation Group U 57 75 29 6 40
Fancu 57 12 75
Fanconi Anemia Complementation Group U 12

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in early childhood
one saudi patient has been reported (last curated december 2016)


HPO:

32
fanconi anemia, complementation group u:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 617247
Disease Ontology 12 DOID:0111085
MeSH 44 D005199

Summaries for Fanconi Anemia, Complementation Group U

UniProtKB/Swiss-Prot : 75 Fanconi anemia, complementation group U: A disorder affecting all bone marrow elements and resulting in anemia, leukopenia and thrombopenia. It is associated with cardiac, renal and limb malformations, dermal pigmentary changes, and a predisposition to the development of malignancies. At the cellular level it is associated with hypersensitivity to DNA-damaging agents, chromosomal instability (increased chromosome breakage) and defective DNA repair.

MalaCards based summary : Fanconi Anemia, Complementation Group U, is also known as fancu. An important gene associated with Fanconi Anemia, Complementation Group U is XRCC2 (X-Ray Repair Cross Complementing 2). Affiliated tissues include bone, bone marrow and kidney, and related phenotypes are microcephaly and growth delay

Disease Ontology : 12 A Fanconi anemia that has material basis in homozygous mutation in the XRCC2 gene on chromosome 7q36.

Description from OMIM: 617247

Related Diseases for Fanconi Anemia, Complementation Group U

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group U

Symptoms via clinical synopsis from OMIM:

57
Growth Other:
poor growth

Cardiovascular Heart:
patent ductus arteriosus

Skeletal Limbs:
radial ray anomalies

Hematology:
no bone marrow failure

Head And Neck Head:
microcephaly

Genitourinary Kidneys:
ectopic left kidney

Skeletal Hands:
absent thumbs absent first metacarpal
absent scaphoid bone

Laboratory Abnormalities:
increased chromosomal breakage and instability
cellular hypersensitivity to dna interstrand crosslinking agents
cellular hypersensitivity to ionizing radiation
defective dna repair


Clinical features from OMIM:

617247

Human phenotypes related to Fanconi Anemia, Complementation Group U:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 growth delay 32 HP:0001510
3 patent ductus arteriosus 32 HP:0001643
4 absent scaphoid 32 HP:0011835

Drugs & Therapeutics for Fanconi Anemia, Complementation Group U

Search Clinical Trials , NIH Clinical Center for Fanconi Anemia, Complementation Group U

Genetic Tests for Fanconi Anemia, Complementation Group U

Genetic tests related to Fanconi Anemia, Complementation Group U:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group U 29 XRCC2

Anatomical Context for Fanconi Anemia, Complementation Group U

MalaCards organs/tissues related to Fanconi Anemia, Complementation Group U:

41
Bone, Bone Marrow, Kidney

Publications for Fanconi Anemia, Complementation Group U

Variations for Fanconi Anemia, Complementation Group U

Expression for Fanconi Anemia, Complementation Group U

Search GEO for disease gene expression data for Fanconi Anemia, Complementation Group U.

Pathways for Fanconi Anemia, Complementation Group U

GO Terms for Fanconi Anemia, Complementation Group U

Sources for Fanconi Anemia, Complementation Group U

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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