FANCT
MCID: FNC052
MIFTS: 42

Fanconi Anemia, Complementation Group T (FANCT)

Categories: Blood diseases, Bone diseases, Fetal diseases, Genetic diseases, Immune diseases, Nephrological diseases, Rare diseases, Skin 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
Fanconi Anemia Complementation Group T 12 75 15
Fanct 57 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:



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, also known as fanconi anemia complementation group t, is related to fanconi anemia, complementation group i and fanconi anemia, complementation group l. An important gene associated with Fanconi Anemia, Complementation Group T is UBE2T (Ubiquitin Conjugating Enzyme E2 T), and among its related pathways/superpathways are DNA Double-Strand Break Repair and Chks in Checkpoint Regulation. Affiliated tissues include bone, bone marrow and skin, and related phenotypes are short stature and anemia

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

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)

Related Diseases for Fanconi Anemia, Complementation Group T

Diseases in the Fanconi Anemia, Complementation Group a family:

Fanconi Anemia, Complementation Group I Fanconi Anemia, Complementation Group J
Fanconi Anemia, Complementation Group N Fanconi Anemia, Complementation Group O
Fanconi Anemia, Complementation Group P Fanconi Anemia, Complementation Group L
Fanconi Anemia, Complementation Group Q Fanconi Anemia, Complementation Group T
Fanconi Anemia, Complementation Group V Fanconi Anemia, Complementation Group R
Fanconi Anemia, Complementation Group U Fanconi Anemia, Complementation Group W
Fanconi Anemia, Complementation Group S

Diseases related to Fanconi Anemia, Complementation Group T via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 24)
# Related Disease Score Top Affiliating Genes
1 fanconi anemia, complementation group i 10.2 FANCD2 FANCI
2 fanconi anemia, complementation group l 10.1 FANCD2 FANCL UBE2T
3 fanconi anemia, complementation group n 10.1 FANCI FANCM
4 fanconi anemia, complementation group o 10.1 FANCD2 FANCI FANCM
5 fanconi anemia, complementation group p 10.0 FANCA FANCM
6 fanconi anemia, complementation group d1 10.0 FANCA FANCD2 FANCE
7 xfe progeroid syndrome 10.0 ERCC1 ERCC4
8 fanconi anemia, complementation group d2 10.0 FANCA FANCD2 RAD51
9 fanconi anemia, complementation group b 10.0 FANCA FANCD2 FANCE FANCL
10 squamous cell carcinoma, head and neck 9.9 FANCA FANCE FANCL RPS27
11 cerebro-oculo-facio-skeletal syndrome 9.9 ERCC1 ERCC4
12 sporadic breast cancer 9.9 BRCA1 FANCD2 RAD51
13 bilateral breast cancer 9.8 BRCA1 RAD51
14 xeroderma pigmentosum, variant type 9.8 ERCC1 ERCC4 RAD51
15 primary peritoneal carcinoma 9.8 BRCA1 ERCC1
16 fanconi anemia, complementation group e 9.7 BRCA1 FANCA FANCD2 FANCE FANCI
17 hereditary breast ovarian cancer syndrome 9.6 BRCA1 RAD51 XRCC2
18 fanconi anemia, complementation group j 9.6 BRCA1 FANCA FANCD2 FANCI FANCL FANCM
19 congenital hypoplastic anemia 9.5 FANCA FANCD2 FANCE FANCI FANCL FANCM
20 fanconi anemia, complementation group u 9.4 BRCA1 FANCD2 MAD2L2 RAD51 UBE2T XRCC2
21 fanconi anemia, complementation group v 9.3 BRCA1 FANCA FANCD2 MAD2L2 RAD51 UBE2T
22 fanconi anemia, complementation group r 8.6 BRCA1 ERCC1 ERCC4 FANCD2 FANCE FANCI
23 fanconi anemia, complementation group q 8.6 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE
24 fanconi anemia, complementation group a 8.4 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE

Graphical network of the top 20 diseases related to Fanconi Anemia, Complementation Group T:



Diseases related to 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

Hematology:
anemia
pancytopenia
thrombocytopenia
bone marrow failure

Skeletal Limbs:
radial ray anomalies

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

GenomeRNAi Phenotypes related to Fanconi Anemia, Complementation Group T according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.35 BRCA1 RAD51 XRCC2
2 Decreased homologous recombination repair frequency GR00151-A-2 10.35 BRCA1 RAD51 XRCC2
3 Decreased homologous recombination repair frequency GR00236-A-1 10.35 BRCA1 FANCA RAD51
4 Decreased homologous recombination repair frequency GR00236-A-2 10.35 BRCA1 FANCA RAD51
5 Decreased homologous recombination repair frequency GR00236-A-3 10.35 BRCA1 FANCA RAD51
6 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 9.84 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCM
7 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 9.84 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCM
8 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.77 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE
9 Decreased viability with cisplatin GR00101-A-4 9.33 BRCA1 MAD2L2 RAD51

MGI Mouse Phenotypes related to Fanconi Anemia, Complementation Group T:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.02 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCL
2 mortality/aging MP:0010768 9.9 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCI
3 embryo MP:0005380 9.8 BRCA1 ERCC1 FANCA FANCL MAD2L2 RAD51
4 neoplasm MP:0002006 9.43 BRCA1 ERCC1 FANCA FANCD2 FANCM XRCC2
5 reproductive system MP:0005389 9.17 BRCA1 ERCC1 FANCA FANCD2 FANCL FANCM

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, Skin

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 GRCh37 Chromosome 1, 202304112: 202304112
4 UBE2T NM_014176.3(UBE2T): c.179+5G> A single nucleotide variant Pathogenic rs796052212 GRCh38 Chromosome 1, 202334984: 202334984

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

Pathways related to Fanconi Anemia, Complementation Group T according to GeneCards Suite gene sharing:

(show all 14)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.77 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE
2
Show member pathways
12.52 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE
3 12.34 BRCA1 ERCC1 ERCC4 FANCA FANCD2 RAD51
4
Show member pathways
12.1 BRCA1 ERCC1 ERCC4 RAD51 XRCC2
5
Show member pathways
11.85 BRCA1 RAD51 XRCC2
6
Show member pathways
11.65 BRCA1 FANCA FANCD2 FANCE FANCL RAD51
7
Show member pathways
11.59 BRCA1 FANCD2 RAD51
8 11.36 BRCA1 FANCD2 FANCL RAD51
9 11.34 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE
10 11.25 BRCA1 FANCD2 FANCL
11 11.1 BRCA1 FANCA FANCD2 FANCE FANCL RAD51
12 11.05 FANCI UBE2T
13
Show member pathways
11.02 ERCC1 ERCC4
14 10.97 ERCC1 ERCC4

GO Terms for Fanconi Anemia, Complementation Group T

Cellular components related to Fanconi Anemia, Complementation Group T according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear chromosome, telomeric region GO:0000784 9.63 ERCC1 ERCC4 RAD51
2 nucleoplasm GO:0005654 9.47 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE
3 lateral element GO:0000800 9.43 BRCA1 RAD51
4 condensed chromosome GO:0000793 9.43 BRCA1 FANCD2 RAD51
5 nucleotide-excision repair complex GO:0000109 9.4 ERCC1 ERCC4
6 ERCC4-ERCC1 complex GO:0070522 9.37 ERCC1 ERCC4
7 nucleotide-excision repair factor 1 complex GO:0000110 9.32 ERCC1 ERCC4
8 Fanconi anaemia nuclear complex GO:0043240 9.26 FANCA FANCE FANCL FANCM
9 nucleus GO:0005634 10.06 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE

Biological processes related to Fanconi Anemia, Complementation Group T according to GeneCards Suite gene sharing:

(show all 28)
# Name GO ID Score Top Affiliating Genes
1 cellular response to DNA damage stimulus GO:0006974 9.97 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE
2 regulation of cell proliferation GO:0042127 9.81 BRCA1 FANCA FANCL
3 DNA repair GO:0006281 9.77 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCE
4 nucleic acid phosphodiester bond hydrolysis GO:0090305 9.75 ERCC1 ERCC4 FANCM
5 double-strand break repair GO:0006302 9.7 BRCA1 ERCC1 MAD2L2
6 double-strand break repair via nonhomologous end joining GO:0006303 9.69 BRCA1 ERCC1 ERCC4
7 protein monoubiquitination GO:0006513 9.64 FANCL UBE2T
8 response to gamma radiation GO:0010332 9.63 FANCD2 XRCC2
9 replication fork processing GO:0031297 9.62 FANCM RAD51
10 global genome nucleotide-excision repair GO:0070911 9.62 ERCC1 ERCC4
11 DNA recombination GO:0006310 9.62 BRCA1 ERCC1 RAD51 XRCC2
12 regulation of DNA-binding transcription factor activity GO:0051090 9.61 FANCA FANCD2
13 gamete generation GO:0007276 9.61 FANCD2 FANCL
14 nucleotide-excision repair, preincision complex stabilization GO:0006293 9.6 ERCC1 ERCC4
15 response to X-ray GO:0010165 9.59 ERCC1 XRCC2
16 resolution of meiotic recombination intermediates GO:0000712 9.58 ERCC4 FANCM
17 regulation of regulatory T cell differentiation GO:0045589 9.57 FANCA FANCD2
18 UV protection GO:0009650 9.56 ERCC1 ERCC4
19 double-strand break repair via homologous recombination GO:0000724 9.56 BRCA1 ERCC4 RAD51 XRCC2
20 mitotic recombination GO:0006312 9.55 ERCC1 RAD51
21 protein K6-linked ubiquitination GO:0085020 9.54 BRCA1 UBE2T
22 negative regulation of telomere maintenance GO:0032205 9.49 ERCC1 ERCC4
23 nucleotide-excision repair, DNA incision, 3'-to lesion GO:0006295 9.48 ERCC1 ERCC4
24 strand invasion GO:0042148 9.46 RAD51 XRCC2
25 negative regulation of protection from non-homologous end joining at telomere GO:1905765 9.43 ERCC1 ERCC4
26 regulation of CD40 signaling pathway GO:2000348 9.4 FANCA FANCD2
27 telomeric DNA-containing double minutes formation GO:0061819 9.37 ERCC1 ERCC4
28 interstrand cross-link repair GO:0036297 9.32 ERCC1 ERCC4 FANCA FANCD2 FANCE FANCI

Molecular functions related to Fanconi Anemia, Complementation Group T according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.97 BRCA1 ERCC1 ERCC4 FANCI FANCM RAD51
2 nuclease activity GO:0004518 9.63 ERCC1 ERCC4 FANCM
3 single-stranded DNA binding GO:0003697 9.58 ERCC1 ERCC4 RAD51
4 damaged DNA binding GO:0003684 9.33 BRCA1 ERCC1 ERCC4
5 TFIID-class transcription factor complex binding GO:0001094 9.32 ERCC1 ERCC4
6 single-stranded DNA endodeoxyribonuclease activity GO:0000014 9.26 ERCC1 ERCC4
7 3' overhang single-stranded DNA endodeoxyribonuclease activity GO:1990599 8.96 ERCC1 ERCC4
8 DNA polymerase binding GO:0070182 8.8 FANCD2 FANCI RAD51
9 protein binding GO:0005515 10.28 BRCA1 ERCC1 ERCC4 FANCA FANCD2 FANCI

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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