Information on FAVISM
Basic details
Name: Glucose-6-phosphate dehydrogenase deficiency | Acronym: FAVISM
Alt. names: Class I glucose-6-phosphate dehydrogenase deficiency
Gene: G6PD | MOI: X-linked recessive | Mechanism of action:
No. of cases in DB: 0 | First reported in: 1967
Last updated on: 2023-02-28 16:41:18 by
Description
Hemolytic reactions can result from a variety of triggers, such as infections, dietary items, and medications, and avoidance of precipitating agents (or redosing in order to decreased the chance of certain medication reactions, as well as prompt removal in the case of a reaction) can be beneficial; Individuals are also susceptible to neonatal jaundice; Complete G6PD deficiency can result in immunodeficiency, and prophylactic measures, as well as prompt and aggressive treatment of infections, can be beneficial. The condition involves predisposition to anemia, which can be precipitated by, among other things, certain medications; Complete G6PD deficiency can result in chronic granulamotous disease secondary to neutrophil deficiency. Refs. PMIDs: 13360274; 13500095; 14014720; 14158057; 4388132; 5369703; 5305539; 4401271; 4125296; 5448; 3681550; 3446582; 2836867; 2912069; 2910917; 2602358; 2248331; 2263506; 2157298; 2321910; 1999409; 2005960; 1303182; 1611091; 1551674; 1536798; 1562739; 8471773; 8490627; 8364584; 7949118; 8533762; 7617034; 8627445; 8807322; 8826878; 8579052; 8956035; 9427729; 9674740; 10666231; 11048840; 11433050; 11803413; 11857737; 12028056; 15349799; 16204390; 15724035; 16155737; 16493607; 16607506; 16528451; 17444323; 18177777; 19112496; 18379570; 19177059; 20007901; 20701405; 21641489; 22573495; 22795224; 23237606; 23384623; 23573906; 23714236; 23815264; 23834949; 23860572; 23874116; 23874768
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 | Decreased glucose-6-phosphate dehydrogenase level in blood |
20 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 2 | Prolonged neonatal jaundice |
19 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 3 | Splenomegaly |
17 (85.0%) | 0 (0.0%) | 3 (15.0%) |
| 4 | Fava bean-induced hemolytic anemia |
16 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 5 | Abdominal pain |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 6 | Fever |
11 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 7 | Childhood onset |
7 (36.8%) | 0 (0.0%) | 12 (63.2%) |
| 8 | Infantile onset |
4 (21.1%) | 0 (0.0%) | 15 (79.0%) |
| 9 | Congenital onset |
3 (15.8%) | 0 (0.0%) | 16 (84.2%) |
| 10 | Juvenile onset |
3 (15.8%) | 0 (0.0%) | 16 (84.2%) |
| 11 | Jaundice |
1 (99.9%) | 0 (0.0%) | 0 (0.0%) |
| 12 | Middle age onset |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
| 13 | Young adult onset |
1 (5.3%) | 0 (0.0%) | 18 (94.7%) |
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.