ORPHA:530
Lipoid proteinosis
Synonyms: Hyalinosis cutis et mucosae · Urbach-Wiethe disease
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- All ages
- Status
- active
Lipoid proteinosis (LP) is a rare genodermatosis characterized clinically by mucocutaneous lesions, hoarseness developing in early childhood and, at times, neurological complications.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Lipoid proteinosis | Hyalinosis cutis et mucosae · Urbach-Wiethe disease |
| fr | Protéinose lipoïde | Hyalinose cutanéo-muqueuse · Maladie de Urbach-Wiethe |
| de | Lipoidproteinose | Hyalinosis cutis et mucosae · Urbach-Wiethe-Krankheit |
| es | Proteinosis lipoidea | |
| it | Lipoproteinosi | Ialinosi cutaneo-mucosa · Malattia di Urbach-Wiethe |
| nl | Lipoïdproteïnose | Hyalinosis cutis et mucosae · Ziekte van Urbach-Wiethe |
| pt | Proteinose lipóide | Doença de Urbach-Wiethe · Hialinose muco-cutânea |
| pl | Proteinoza lipidowa | Choroba Urbacha i Wiethe'a · Hialinoza skóry i błon śluzowych |
| cs | Lipoidní proteinóza | Hyalinosis cutis et mucosae · Urbachova-Wietheova nemoc · Urbach-Wietheova nemoc |
| uk | Ліпоїдний протеїноз | Гіаліноз шкіри та слизових оболонок · Хвороба Урбаха-Віте |
| zh | 类脂质蛋白沉积症 | 皮肤黏膜透明变性 |
| tr | Lipoid proteinoz | Urbach-Wiethe hastalığı · Hyalinosis cutis et mukoza |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 247100 | E | validated | |
| ICD-10 | E78.8 | NTBT | index | validated |
| ICD-11 | LD27.Y | NTBT | index | validated |
| MONDO | 0009530 | E | validated | |
| MeSH | D008065 | E | validated | |
| UMLS | C0023795 | E | validated | |
| GARD | 3268 | E | validated | |
| MedDRA | 10051661 | 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 (3):
- ORPHA:79381Other dermis disorder
rare skin diseases - ORPHA:477808Other genetic dermis disorder
rare genetic diseases - ORPHA:139027Rare developmental defect with skin/mucosae involvement
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ECM1 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:3153 | ENSG00000143369 | 602201 | 1q21.2 | extracellular matrix protein 1 | 17063986[PMID]_17927570[PMID]_18690317[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 500 cases | Worldwide | Case(s) | Validated | 26803878[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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
23 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008066 | Abnormal blistering of the skin | |
| HP:0011830 | Abnormal oral mucosa morphology | |
| HP:0000168 | Abnormality of the gingiva | |
| HP:0001061 | Acne | |
| HP:0001609 | Hoarse voice | |
| HP:0200034 | Papule | |
| HP:0200039 | Pustule | |
| HP:0100699 | Scarring | |
| HP:0001482 | Subcutaneous nodule | |
| HP:0000179 | Thick lower lip vermilion | |
| HP:0001072 | Thickened skin | |
| HP:0000199 | Tongue nodules | |
| Frequent (79-30%) | ||
| HP:0002293 | Alopecia of scalp | |
| HP:0002015 | Dysphagia | |
| HP:0001332 | Dystonia | |
| HP:0000218 | High palate | |
| HP:0000962 | Hyperkeratosis | |
| HP:0000171 | Microglossia | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0200043 | Verrucae | |
| Occasional (29-5%) | ||
| HP:0002514 | Cerebral calcification | |
| HP:0100582 | Nasal polyposis | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/530
- This record as JSON: /data/d/530.json