Information on FANCL

Basic details

Name: Fanconi anemia, complementation group L | Acronym: FANCL
Alt. names:

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

No. of cases in DB: 0 | First reported in: 2003

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

OMIM: 614083

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: 12973351; 20301575; 22720145; 25754594

Management

Description of management option has not been reviewed yet.

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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 Absent radiusarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
2 Absent thumbarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
3 Chromosome breakagearrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
4 Congenital onsetarrow icon 3 (99.9%) 0 (0.0%) 0 (0.0%)
5 Esophageal atresiaarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
6 Hydrocephalusarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
7 Hypertelorismarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
8 Intrauterine growth retardationarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
9 Tracheoesophageal fistulaarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
10 Unilateral renal agenesisarrow icon 2 (66.7%) 0 (0.0%) 1 (33.3%)
11 Anal atresiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
12 Anotiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
13 Aplasia of the uterusarrow icon 1 (50.0%) 0 (0.0%) 1 (50.0%)
14 Attention deficit hyperactivity disorderarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
15 Bilateral talipes equinovarusarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
16 Cafe-au-lait spotarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
17 Cerebellar hypoplasiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
18 Chromosomal breakage induced by crosslinking agentsarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
19 Cleft palatearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
20 Delayed CNS myelinationarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
21 Depressed nasal tiparrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
22 Feeding difficultiesarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
23 Global developmental delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
24 Growth delayarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
25 Hypoplastic sacrumarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
26 Infantile onsetarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
27 Low-set earsarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
28 Micrognathiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
29 Micropenisarrow icon 1 (99.9%) 0 (0.0%) 0 (0.0%)
30 Microtiaarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
31 Upslanted palpebral fissurearrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)
32 Webbed neckarrow icon 1 (33.3%) 0 (0.0%) 2 (66.7%)

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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.