Information on FANCF

Basic details

Name: Fanconia anemia, complementation group F | Acronym: FANCF
Alt. names:

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

No. of cases in DB: 0 | First reported in: 2000

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

OMIM: 603467

Orphanet: -

MONDO: -

DOID: -

ClinGen:

Description

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. Individuals with FA may manifest a variety of congenital malformations, and awareness may allow prompt detection and management. Refs. PMIDs: 10615118; 20301575

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 Absent Unreported
1 Cafe-au-lait spotarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
2 Congenital onsetarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
3 short staturearrow icon 3 (75.0%) 0 (0.0%) 1 (25.0%)
4 Conductive hearing impairmentarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
5 Decreased growth hormone levelsarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
6 Microcephalyarrow icon 2 (50.0%) 0 (0.0%) 2 (50.0%)
7 Microphthalmiaarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
8 Pelvic kidneyarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
9 Vesicoureteral refluxarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
10 2-3 finger syndactylyarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
11 Absent thumbarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
12 Anemiaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
13 Atrial septal defectarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
14 Bone marrow hypocellularityarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Chromosomal breakage induced by crosslinking agentsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
16 Cryptorchidismarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
17 Delayed speech and language developmentarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
18 Duodenal atresiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
19 Failure to thrivearrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
20 Hyperpigmentation of the skinarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Hypoplasia of the radiusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
22 Intrauterine growth retardationarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
23 Leukopeniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
24 Microphallusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
25 Microtiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
26 Patent ductus arteriosusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
27 Placental abruptionarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
28 Pneumoniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
29 Polyhydramniosarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
30 Renal hypoplasiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
31 Sacral dimplearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
32 Short thumbarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
33 Single umbilical arteryarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
34 Specific learning disabilityarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
35 Thrombocytopeniaarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)

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.