Maternal riboflavin deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Maternal riboflavin deficiency is a rare, genetic disorder of metabolite absorption or transport characterized by persistently decreased riboflavin serum levels due to a primary genetic defect in the mother and which leads to clinical and biochemical findings consistent with a secondary, life-threatening, transient multiple acyl-CoA dehydrogenase deficiency (MADD) in the newborn. The mother usually presents hyperemesis gravidarum in the absence of other features of riboflavin deficiency, such as skin lesions, jaundice, pruritus, sore mucous membranes, visual disturbances.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Maternal riboflavin deficiency | |
| fr | Déficit maternel en riboflavine | |
| de | Riboflavin-Mangel, maternaler | |
| es | Deficiencia de riboflavina materna | |
| it | Deficit materno di riboflavina | |
| nl | Maternale riboflavinedeficiëntie | |
| pt | Défice materno de riboflavina | |
| pl | Matczyny Niedobór ryboflawiny | |
| cs | Maternální deficit riboflavinu | |
| uk | Дефіцит рибофлавіну у матері | |
| zh | 母体核黄素缺乏 | |
| tr | Maternal riboflavin eksikliği |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615026 | E | validated | |
| ICD-10 | P00.4 | NTBT | attributed | validated |
| ICD-11 | 5B5B | NTBT | attributed | validated |
| MONDO | 0014013 | E | validated | |
| UMLS | C4750953 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:309833Disorder of other vitamins and cofactors metabolism and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC52A1 | Disease-causing germline mutation(s) in | Assessed | HGNC:30225 | ENSG00000132517 | 607883 | 17p13.2 | solute carrier family 52 member 1 | 17689999[PMID]_21089064[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 21089064[PMID]_29122468[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_21089064[PMID]_29122468[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/411712
- This record as JSON: /data/d/411712.json