FANCT
MCID: FNC052
MIFTS: 40

Fanconi Anemia, Complementation Group T (FANCT)

Categories: Blood diseases, Bone diseases, Cancer 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 56 29 6 39
Fanconi Anemia Complementation Group T 12 73 15
Fanct 56 12 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

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


HPO:

31
fanconi anemia, complementation group t:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111081
OMIM 56 616435
OMIM Phenotypic Series 56 PS227650
MeSH 43 D005199

Summaries for Fanconi Anemia, Complementation Group T

UniProtKB/Swiss-Prot : 73 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 esophageal atresia/tracheoesophageal fistula and vacterl association. 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 b cells, 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 : 56 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 C family:

Fanconi Anemia, Complementation Group D2 Fanconi Anemia, Complementation Group a
Fanconi Anemia, Complementation Group B Fanconi Anemia, Complementation Group E
Fanconi Anemia, Complementation Group F Fanconi Anemia, Complementation Group D1
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 G
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 32)
# Related Disease Score Top Affiliating Genes
1 esophageal atresia/tracheoesophageal fistula 9.9 FANCB FANCA
2 vacterl association 9.9 FANCL FANCI FANCB
3 maternal uniparental disomy 9.7 SLX4 FANCA
4 maternal uniparental disomy of chromosome 16 9.7 SLX4 FANCA
5 fanconi anemia, complementation group l 9.6 UBE2T FANCL FANCI FANCD2
6 thrombophlebitis migrans 9.5 SLX4 FANCI FANCA
7 dyskeratosis congenita 9.5 H2AC18 FANCB FANCA
8 fanconi anemia, complementation group i 9.4 H2AC18 FANCM FANCI FANCD2
9 fanconi anemia, complementation group c 9.2 FANCL FANCI FANCF FANCD2 FANCA
10 fanconi anemia, complementation group d2 9.1 H2AC18 FANCI FANCG FANCD2 FANCA
11 interstitial nephritis, karyomegalic 9.0 SLX4 FANCI FANCD2 FAAP20
12 fanconi anemia, complementation group e 9.0 FANCG FANCF FANCE FANCD2 FANCA
13 xeroderma pigmentosum, complementation group f 9.0 SLX4 FANCM FANCD2 FAAP24
14 seckel syndrome 8.8 H2AC18 FANCM FANCI FANCE FANCD2 FANCA
15 fanconi anemia, complementation group f 8.7 H2AC18 FANCG FANCF FANCE FANCD2 FANCA
16 aplastic anemia 8.7 H2AC18 FANCM FANCI FANCG FANCD2 FANCA
17 fanconi anemia, complementation group b 8.6 FANCL FANCG FANCF FANCE FANCD2 FANCB
18 deficiency anemia 8.5 H2AC18 FANCG FANCF FANCE FANCD2 FANCB
19 squamous cell carcinoma, head and neck 8.4 H2AC18 FANCL FANCG FANCF FANCE FANCD2
20 esophageal atresia 8.0 SLX4 FANCM FANCL FANCI FANCE FANCD2
21 xeroderma pigmentosum, variant type 7.9 SLX4 H2AC18 FANCM FANCI FANCG FANCD2
22 fanconi anemia, complementation group u 7.7 UBE2T SLX4 FANCM FANCL FANCI FANCF
23 fanconi anemia, complementation group r 7.3 UBE2T SLX4 FANCM FANCL FANCI FANCG
24 fanconi anemia, complementation group v 7.3 UBE2T SLX4 FANCM FANCL FANCI FANCE
25 fanconi anemia, complementation group q 7.1 UBE2T SLX4 FANCM FANCL FANCI FANCG
26 fanconi anemia, complementation group o 7.0 SLX4 FANCM FANCL FANCI FANCG FANCF
27 fanconi anemia, complementation group p 6.8 SLX4 H2AC18 FANCM FANCL FANCI FANCG
28 fanconi anemia, complementation group j 6.8 SLX4 H2AC18 FANCM FANCL FANCI FANCG
29 fanconi anemia, complementation group n 6.6 UBE2T SLX4 H2AC18 FANCM FANCL FANCI
30 fanconi anemia, complementation group d1 6.6 UBE2T SLX4 H2AC18 FANCM FANCL FANCI
31 congenital hypoplastic anemia 6.2 UBE2T SLX4 H2AC18 FANCM FANCL FANCI
32 fanconi anemia, complementation group a 6.2 UBE2T SLX4 H2AC18 FANCM FANCL FANCI

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

Human phenotypes related to Fanconi Anemia, Complementation Group T:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 short stature 31 HP:0004322
2 anemia 31 HP:0001903
3 pancytopenia 31 HP:0001876
4 bone marrow hypocellularity 31 HP:0005528
5 thrombocytopenia 31 HP:0001873
6 short thumb 31 HP:0009778
7 duplication of thumb phalanx 31 HP:0009942

Symptoms via clinical synopsis from OMIM:

56
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

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 Increased viability with MLN4924 (a NAE inhibitor) GR00250-A-3 9.36 FAAP100 FAAP24 FANCA FANCD2 FANCE FANCF

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

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 9.85 FAAP20 FANCA FANCB FANCD2 FANCE FANCF
2 endocrine/exocrine gland MP:0005379 9.65 FAAP20 FANCA FANCB FANCD2 FANCE FANCF
3 reproductive system MP:0005389 9.32 FAAP20 FANCA FANCB FANCD2 FANCE FANCF

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:

40
Bone, Bone Marrow, B Cells, Skin

Publications for Fanconi Anemia, Complementation Group T

Articles related to Fanconi Anemia, Complementation Group T:

(show all 13)
# Title Authors PMID Year
1
Mutations in the gene encoding the E2 conjugating enzyme UBE2T cause Fanconi anemia. 56 6
26046368 2015
2
ACOG Committee Opinion No. 442: Preconception and prenatal carrier screening for genetic diseases in individuals of Eastern European Jewish descent. 6
19888064 2009
3
Carrier screening in individuals of Ashkenazi Jewish descent. 6
18197057 2008
4
Fanconi Anemia 6
20301575 2002
5
Enhanced DNA repair and genomic stability identify a novel HIV-related diffuse large B-cell lymphoma signature. 61
31044434 2019
6
Deficiency of the Fanconi anemia E2 ubiqitin conjugase UBE2T only partially abrogates Alu-mediated recombination in a new model of homology dependent recombination. 61
30715513 2019
7
Multiplexed CRISPR/Cas9-mediated knockout of 19 Fanconi anemia pathway genes in zebrafish revealed their roles in growth, sexual development and fertility. 61
30540754 2018
8
Recent discoveries in the molecular pathogenesis of the inherited bone marrow failure syndrome Fanconi anemia. 61
27760710 2017
9
[Fanconi anemia animal models - How differences can teach us as much as similarities…]. 61
27406770 2016
10
[Inherited bone marrow failure syndromes]. 61
26935625 2016
11
The Simple Chordate Ciona intestinalis Has a Reduced Complement of Genes Associated with Fanconi Anemia. 61
27279728 2016
12
AluY-mediated germline deletion, duplication and somatic stem cell reversion in UBE2T defines a new subtype of Fanconi anemia. 61
26085575 2015
13
Deficiency of UBE2T, the E2 Ubiquitin Ligase Necessary for FANCD2 and FANCI Ubiquitination, Causes FA-T Subtype of Fanconi Anemia. 61
26119737 2015

Variations for Fanconi Anemia, Complementation Group T

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 UBE2T NM_014176.4(UBE2T):c.4C>G (p.Gln2Glu)SNV Pathogenic 199436 rs774357609 1:202304879-202304879 1:202335751-202335751
2 UBE2T NM_014176.4(UBE2T):c.179+5G>ASNV Pathogenic 199437 rs796052212 1:202304112-202304112 1:202334984-202334984

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

73
# Symbol AA change Variation ID SNP ID
1 UBE2T p.Gln2Glu VAR_073861 rs774357609

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:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.47 UBE2T SLX4 FANCM FANCL FANCI FANCG
2
Show member pathways
12.33 FANCG FANCF FANCE FANCD2 FANCA
3 12.14 UBE2T FANCD2 FANCB FANCA
4 11.77 UBE2T SLX4 FANCM FANCL FANCI FANCG
5
Show member pathways
11.65 FANCL FANCG FANCF FANCE FANCD2 FANCA
6 11.1 FANCL FANCG FANCF FANCE FANCD2 FANCA
7 11.08 FANCL FANCD2
8 10.92 UBE2T FANCI

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 nucleus GO:0005634 10.03 UBE2T SLX4 H2AC18 FANCM FANCL FANCI
2 nucleoplasm GO:0005654 9.8 UBE2T SLX4 FANCM FANCL FANCI FANCG
3 Fanconi anaemia nuclear complex GO:0043240 9.32 FANCM FANCL FANCG FANCF FANCE FANCB

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

# Name GO ID Score Top Affiliating Genes
1 interstrand cross-link repair GO:0036297 10 UBE2T SLX4 FANCM FANCL FANCI FANCG
2 cellular response to DNA damage stimulus GO:0006974 9.8 UBE2T SLX4 FANCM FANCL FANCI FANCG
3 DNA repair GO:0006281 9.47 UBE2T SLX4 FANCM FANCL FANCI FANCG
4 protein monoubiquitination GO:0006513 9.46 UBE2T FANCL
5 regulation of DNA-binding transcription factor activity GO:0051090 9.43 FANCD2 FANCA
6 gamete generation GO:0007276 9.4 FANCL FANCD2
7 resolution of meiotic recombination intermediates GO:0000712 9.37 SLX4 FANCM
8 regulation of regulatory T cell differentiation GO:0045589 9.32 FANCD2 FANCA
9 regulation of CD40 signaling pathway GO:2000348 9.26 FANCD2 FANCA

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

# Name GO ID Score Top Affiliating Genes
1 DNA polymerase binding GO:0070182 8.62 FANCI FANCD2

Sources for Fanconi Anemia, Complementation Group T

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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