Information on FANCT

Basic details

Name: Fanconi anemia, complementation group T | Acronym: FANCT
Alt. names:

Gene: UBE2T | MOI: Autosomal recessive | Mechanism of action:

No. of cases in DB: 0 | First reported in: 2015

Last updated on: 2023-02-28 16:41:18 by

OMIM: 616435

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

In Fanconi anemia, specific treatments can help manifestations (eg, oral androgens for blood counts; G-CSF for neutrophil count); HSCT can be curative, but solid tumor risk may remain; Surveillance for complications such as bone marrow failure is recommended. Refs. PMIDs: 20301575; 26046368

Management

Description of management option has not been reviewed yet.

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

0 reported cases added to GenIA

SubjectID	Sex	Fam.ID	AD	AFM	Validity	Country	Population	Reference & Pub.code

AD: Age at genetic diagnosis; AFM: age at first manifestation; PMID: PubMed ID; GRID: GenIA reference ID (ref. not in PubMed).

Summary of clinical findings

[Considering only Definitive and Possible cases]

Rank	Clinical term	Present	Unreported
1	Anemia	2 (99.9%)	0 (0.0%)
2	Chromosomal breakage induced by crosslinking agents	2 (99.9%)	0 (0.0%)
3	Congenital onset	2 (99.9%)	0 (0.0%)
4	Thrombocytopenia	2 (99.9%)	0 (0.0%)
5	Acute myeloid leukemia	1 (50.0%)	1 (50.0%)
6	Duplication of thumb phalanx	1 (50.0%)	1 (50.0%)
7	Facial palsy	1 (50.0%)	1 (50.0%)
8	Hearing impairment	1 (50.0%)	1 (50.0%)
9	Pancytopenia	1 (50.0%)	1 (50.0%)
10	short stature	1 (50.0%)	1 (50.0%)
11	Short thumb	1 (50.0%)	1 (50.0%)

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.

Summary of treatment outcomes

[Considering only Definitive and Possible cases]

Treatment ⓘ	Responses & clinical indications

Please mind that full curation of this condition has not started yet. Please contact us if you want to volunteer.