Information on FANCD2
Basic details
Name: Fanconi anemia, complementation group D2 | Acronym: FANCD2
Alt. names:
Gene: FANCD2 | MOI: Autosomal recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 2001
Last updated on: 2023-02-28 16:41:18 by
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: 17436244; 20301575; 22720145; 23285130
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 | Bone marrow hypocellularity |
25 (89.3%) | 0 (0.0%) | 3 (10.7%) |
| 2 | Microcephaly |
25 (89.3%) | 0 (0.0%) | 3 (10.7%) |
| 3 | Small for gestational age |
24 (82.8%) | 0 (0.0%) | 5 (17.2%) |
| 4 | Abnormality of skin pigmentation |
19 (65.5%) | 0 (0.0%) | 10 (34.5%) |
| 5 | Microphthalmia |
17 (60.7%) | 0 (0.0%) | 11 (39.3%) |
| 6 | Intellectual disability |
9 (31.0%) | 0 (0.0%) | 20 (69.0%) |
| 7 | Short thumb |
9 (31.0%) | 0 (0.0%) | 20 (69.0%) |
| 8 | Hydrocephalus |
4 (13.8%) | 0 (0.0%) | 25 (86.2%) |
| 9 | Hypoplasia of the corpus callosum |
4 (13.8%) | 0 (0.0%) | 25 (86.2%) |
| 10 | Patent ductus arteriosus |
4 (13.8%) | 0 (0.0%) | 25 (86.2%) |
| 11 | Pelvic kidney |
4 (13.8%) | 0 (0.0%) | 25 (86.2%) |
| 12 | Absent radius |
3 (10.3%) | 0 (0.0%) | 26 (89.7%) |
| 13 | Absent thumb |
3 (10.3%) | 0 (0.0%) | 26 (89.7%) |
| 14 | Attention deficit hyperactivity disorder |
3 (10.3%) | 0 (0.0%) | 26 (89.7%) |
| 15 | Low-set ears |
3 (10.3%) | 0 (0.0%) | 26 (89.7%) |
| 16 | Preaxial hand polydactyly |
3 (10.3%) | 0 (0.0%) | 26 (89.7%) |
| 17 | Agenesis of corpus callosum |
2 (6.9%) | 0 (0.0%) | 27 (93.1%) |
| 18 | Aplasia of the 1st metacarpal |
2 (6.9%) | 0 (0.0%) | 27 (93.1%) |
| 19 | Cafe-au-lait spot |
2 (6.9%) | 0 (0.0%) | 27 (93.1%) |
| 20 | Hypotelorism |
2 (6.9%) | 0 (0.0%) | 27 (93.1%) |
| 21 | Micropenis |
2 (11.8%) | 0 (0.0%) | 15 (88.2%) |
| 22 | Annular pancreas |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 23 | Blepharophimosis |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 24 | Ectopic kidney |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 25 | Esophageal atresia |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 26 | Hearing impairment |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 27 | Horseshoe kidney |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 28 | Hypergonadotropic hypogonadism |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 29 | Hypertelorism |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 30 | Partial duplication of thumb phalanx |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 31 | Renal duplication |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 32 | Strabismus |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
| 33 | Tracheoesophageal fistula |
1 (3.5%) | 0 (0.0%) | 28 (96.6%) |
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.