ORPHA:535453
Familial lipase maturation factor 1 deficiency
Synonyms: Familial LMF1 deficiency
- Type
- Etiological subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult
- Status
- active
This disease is described under Familial chylomicronemia syndrome
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial lipase maturation factor 1 deficiency | Familial LMF1 deficiency |
| fr | Déficit familial en LMF1 | Déficit familial en facteur 1 de maturation de la lipase |
| de | Familiärer Lipase-Reifungsfaktor 1-Mangel | Familiäre LMF1-Defizienz · LMF1-Mangel, familiärer |
| es | Deficiencia familiar del factor de maduración de lipasa 1 | Deficiencia familiar de LMF1 |
| it | Deficit familiare del fattore 1 di maturazione della lipasi | |
| nl | Familiale lipase-maturatiefactor 1-deficiëntie | Familiale LMF1-deficiëntie |
| pt | Deficiência do factor 1 de maturação da lipase familiar | |
| pl | Niedobór rodzinny czynnika 1 dojrzewania lipazy | Rodzinny niedobór LMF1 |
| cs | Familiární deficit lipázového maturačního faktoru 1 | = en |
| uk | Сімейний дефіцит фактора дозрівання ліпази 1 | Сімейний дефіцит LMF1 |
| zh | 家族性脂肪酶成熟因子1缺乏症 | 家族性LMF1缺乏症 |
| tr | Ailesel lipaz olgunlaşma faktörü 1 eksikliği | Ailesel LMF1 eksikliği |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 246650 | E | validated | |
| ICD-10 | E78.3 | NTBT | attributed | validated |
| MONDO | 0009527 | E | validated | |
| UMLS | C1855498 | E | validated | |
| GARD | 10244 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:444490Familial chylomicronemia syndrome
rare inborn errors of metabolism; rare genetic diseases; rare endocrine diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMF1 | Disease-causing germline mutation(s) in | Assessed | HGNC:14154 | ENSG00000103227 | 611761 | 16p13.3 | lipase maturation factor 1 | 25732519[PMID]_29980054[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 25732519[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25732519[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/535453
- This record as JSON: /data/d/535453.json