ORPHA:53690
Congenital lactase deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adult, Childhood, Infancy, Neonatal
- Status
- active
Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital lactase deficiency | |
| fr | Déficit congénital en lactase | |
| de | Laktase-Mangel, kongenitaler | |
| es | Deficiencia congénita de lactasa | |
| it | Deficit congenito di lattasi | |
| nl | Congenitale deficiëntie van lactase | |
| pt | Deficiência de lactase congénita | |
| pl | Wrodzony Niedobór laktazy | |
| cs | Vrozený deficit laktázy | Vrozená laktózová intolerance |
| uk | Вроджена лактазна недостатність | |
| zh | 先天性乳糖酶缺乏 | |
| tr | Doğumsal laktaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 223000 | E | validated | |
| ICD-10 | E73.0 | E | specific | validated |
| ICD-11 | 5C61.61 | E | specific | validated |
| MONDO | 0009115 | E | validated | |
| MeSH | C562600 | E | validated | |
| UMLS | C0268179 | E | validated | |
| MedDRA | 10086148 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:104006Congenital intestinal disease due to an enzymatic defect
rare gastroenterological diseases; rare genetic diseases - ORPHA:309001Disorder of carbohydrate absorption and transport
rare inborn errors of metabolism; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LCT | Disease-causing germline mutation(s) in | Assessed | HGNC:6530 | ENSG00000115850 | 603202 | 2q21.3 | lactase | 16400612[PMID] |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 100 000 | 1.7 / 100 000 | Europe | Value and class | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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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/53690
- This record as JSON: /data/d/53690.json