MCID: FNC052
MIFTS: 20

Fanconi Anemia, Complementation Group T

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

Aliases & Classifications for Fanconi Anemia, Complementation Group T

MalaCards integrated aliases for Fanconi Anemia, Complementation Group T:

Name: Fanconi Anemia, Complementation Group T 57 29 6 40
Fanct 57 12 75
Fanconi Anemia Complementation Group T 12 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth or early infancy
two unrelated japanese patients have been reported (last curated june 2015)


HPO:

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


Classifications:



External Ids:

OMIM 57 616435
Disease Ontology 12 DOID:0111081
MeSH 44 D005199

Summaries for Fanconi Anemia, Complementation Group T

UniProtKB/Swiss-Prot : 75 Fanconi anemia complementation group T: 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 T, is also known as fanct. An important gene associated with Fanconi Anemia, Complementation Group T is UBE2T (Ubiquitin Conjugating Enzyme E2 T). Affiliated tissues include bone and bone marrow, and related phenotypes are short stature and anemia

OMIM : 57 Fanconi anemia is characterized by genomic instability, increased susceptibility to cancer development, and bone marrow failure associated with various developmental abnormalities, such as radial ray anomalies or short stature (summary by Hira et al., 2015). For a discussion of genetic heterogeneity of Fanconi anemia, see FANCA (227650). (616435)

Disease Ontology : 12 A Fanconi anemia that has material basis in compound heterozygous mutation in the UBE2T gene on chromosome 1q32.

Related Diseases for Fanconi Anemia, Complementation Group T

Symptoms & Phenotypes for Fanconi Anemia, Complementation Group T

Symptoms via clinical synopsis from OMIM:

57
Growth Height:
short stature

Skeletal Hands:
hypoplastic thumbs
duplicated thumbs

Neoplasia:
increased susceptibility to malignancy

Skeletal Limbs:
radial ray anomalies

Hematology:
anemia
thrombocytopenia
pancytopenia
bone marrow failure

Laboratory Abnormalities:
increased chromosomal breakage in response to dna damaging agents


Clinical features from OMIM:

616435

Human phenotypes related to Fanconi Anemia, Complementation Group T:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 anemia 32 HP:0001903
3 pancytopenia 32 HP:0001876
4 bone marrow hypocellularity 32 HP:0005528
5 thrombocytopenia 32 HP:0001873
6 short thumb 32 HP:0009778
7 duplication of thumb phalanx 32 HP:0009942

Drugs & Therapeutics for Fanconi Anemia, Complementation Group T

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

Genetic Tests for Fanconi Anemia, Complementation Group T

Genetic tests related to Fanconi Anemia, Complementation Group T:

# Genetic test Affiliating Genes
1 Fanconi Anemia, Complementation Group T 29 UBE2T

Anatomical Context for Fanconi Anemia, Complementation Group T

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

41
Bone, Bone Marrow

Publications for Fanconi Anemia, Complementation Group T

Variations for Fanconi Anemia, Complementation Group T

UniProtKB/Swiss-Prot genetic disease variations for Fanconi Anemia, Complementation Group T:

75
# Symbol AA change Variation ID SNP ID
1 UBE2T p.Gln2Glu VAR_073861 rs774357609

ClinVar genetic disease variations for Fanconi Anemia, Complementation Group T:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 UBE2T NM_014176.3(UBE2T): c.4C> G (p.Gln2Glu) single nucleotide variant Pathogenic rs774357609 GRCh37 Chromosome 1, 202304879: 202304879
2 UBE2T NM_014176.3(UBE2T): c.4C> G (p.Gln2Glu) single nucleotide variant Pathogenic rs774357609 GRCh38 Chromosome 1, 202335751: 202335751
3 UBE2T NM_014176.3(UBE2T): c.179+5G> A single nucleotide variant Pathogenic rs796052212 GRCh38 Chromosome 1, 202334984: 202334984
4 UBE2T NM_014176.3(UBE2T): c.179+5G> A single nucleotide variant Pathogenic rs796052212 GRCh37 Chromosome 1, 202304112: 202304112

Expression for Fanconi Anemia, Complementation Group T

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

Pathways for Fanconi Anemia, Complementation Group T

GO Terms for Fanconi Anemia, Complementation Group T

Sources for Fanconi Anemia, Complementation Group T

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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