Information on FANCI

Basic details

Name: Fanconi anemia, complementation group I | Acronym: FANCI
Alt. names:

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

No. of cases in DB: 0 | First reported in: 2007

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

OMIM: 609053

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: 14630800; 17452773; 17460694; 17412408; 20301575; 21568838

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	Absent septum pellucidum	11 (91.7%)	1 (8.3%)
2	Chromosomal breakage induced by crosslinking agents	10 (99.9%)	0 (0.0%)
3	short stature	10 (99.9%)	0 (0.0%)
4	Congenital onset	4 (99.9%)	0 (0.0%)
5	Absent thumb	3 (75.0%)	1 (25.0%)
6	Bone marrow hypocellularity	3 (99.9%)	0 (0.0%)
7	Cafe-au-lait spot	3 (99.9%)	0 (0.0%)
8	Hearing impairment	3 (99.9%)	0 (0.0%)
9	Hypothyroidism	3 (99.9%)	0 (0.0%)
10	Microcephaly	3 (99.9%)	0 (0.0%)
11	Triangular face	3 (99.9%)	0 (0.0%)
12	Ventricular septal defect	3 (99.9%)	0 (0.0%)
13	Astigmatism	2 (99.9%)	0 (0.0%)
14	Atrial septal defect	2 (66.7%)	1 (33.3%)
15	Fused cervical vertebrae	2 (66.7%)	1 (33.3%)
16	Global developmental delay	2 (99.9%)	0 (0.0%)
17	Myopia	2 (66.7%)	1 (33.3%)
18	Neutropenia	2 (66.7%)	1 (33.3%)
19	Absent radius	1 (99.9%)	0 (0.0%)
20	Agenesis of corpus callosum	1 (50.0%)	1 (50.0%)
21	Anemia	1 (99.9%)	0 (0.0%)
22	Atresia of the external auditory canal	1 (99.9%)	0 (0.0%)
23	Arnold-Chiari malformation	1 (33.3%)	2 (66.7%)
24	Colpocephaly	1 (33.3%)	2 (66.7%)
25	Decreased body weight	1 (99.9%)	0 (0.0%)
26	Duodenal atresia	1 (33.3%)	2 (66.7%)
27	Horseshoe kidney	1 (33.3%)	2 (66.7%)
28	Intrauterine growth retardation	1 (50.0%)	1 (50.0%)
29	Microphthalmia	1 (33.3%)	2 (66.7%)
30	Optic disc pallor	1 (33.3%)	2 (66.7%)
31	Optic nerve hypoplasia	1 (50.0%)	1 (50.0%)
32	Patent ductus arteriosus	1 (33.3%)	2 (66.7%)
33	Patent foramen ovale	1 (33.3%)	2 (66.7%)
34	Reduced circulating growth hormone concentration	1 (99.9%)	0 (0.0%)
35	Renal hypoplasia	1 (33.3%)	2 (66.7%)
36	Short 1st metacarpal	1 (33.3%)	2 (66.7%)
37	Short neck	1 (99.9%)	0 (0.0%)
38	Short thumb	1 (25.0%)	3 (75.0%)
39	Small pituitary gland	1 (99.9%)	0 (0.0%)
40	Thrombocytopenia	1 (33.3%)	2 (66.7%)
41	Vesicoureteral reflux	1 (33.3%)	2 (66.7%)

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.