ORPHA:75233
Wolman disease
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A severe form of lysosomal acid lipase deficiency characterized by rapidly progressive lipid accumulation in organs and tissues that presents in the neonatal or infantile period with massive hepatosplenomegaly, liver failure, diarrhea/steatorrhea and vomiting.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Wolman disease | |
| fr | Maladie de Wolman | |
| de | Wolman-Krankheit | |
| es | Enfermedad de Wolman | |
| it | Malattia di Wolman | |
| nl | Ziekte van Wolman | |
| pt | Doença de Wolman | |
| pl | Choroba Wolmana | |
| cs | Wolmanova nemoc | |
| uk | Хвороба Вольмана | |
| zh | 酸性脂酶缺乏症 | |
| tr | Wolman hastalığı |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620151 | E | validated | |
| ICD-10 | E75.5 | NTBT | inclusion | validated |
| ICD-11 | 5C56.0Y | NTBT | index | validated |
| MONDO | 0019148 | E | validated | |
| MeSH | D015223 | E | validated | |
| UMLS | C0043208 | E | validated | |
| GARD | 7899 | E | validated | |
| MedDRA | 10053687 | 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 (1):
- ORPHA:275761Lysosomal acid lipase deficiency
rare inborn errors of metabolism; rare genetic diseases; rare hepatic diseases; rare endocrine diseases; rare transplant-related disorders
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LIPA | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:6617 | ENSG00000107798 | 613497 | 10q23.31 | lipase A, lysosomal acid type | 22227072[PMID]_26225414[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.19 / 100 000 | Australia | Value and class | Validated | 9918480[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
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
17 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003270 | Abdominal distention | |
| HP:0010512 | Adrenal calcification | |
| HP:0001263 | Global developmental delay | |
| HP:0001399 | Hepatic failure | |
| HP:0002240 | Hepatomegaly | |
| HP:0002017 | Nausea and vomiting | |
| HP:0002570 | Steatorrhea | |
| Frequent (79-30%) | ||
| HP:0001903 | Anemia | |
| HP:0001541 | Ascites | |
| HP:0004326 | Cachexia | |
| HP:0001510 | Growth delay | |
| HP:0004395 | Malnutrition | |
| HP:0001744 | Splenomegaly | |
| Occasional (29-5%) | ||
| HP:0000846 | Adrenal insufficiency | |
| HP:0004333 | Bone-marrow foam cells | |
| HP:0002040 | Esophageal varix | |
| HP:0001945 | Fever | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 26225414[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/75233
- This record as JSON: /data/d/75233.json