Lipoid proteinosis
General Information (adopted from Orphanet):
| Synonyms, Signs: |
LIPOID PROTEINOSIS urbach-wiethe disease hyalinosis cutis et mucosae |
| Number of Symptoms | 49 |
| OrphanetNr: | 530 |
| OMIM Id: |
247100
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| ICD-10: |
E78.8 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | > 280 cases [Orphanet] |
| Inheritance: |
Autosomal recessive [Orphanet] |
| Age of onset: |
Neonatal Infancy Childhood Adolescent Adult [Orphanet] |
Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic dermis disorder
-Rare genetic disease Malformation syndrome with skin/mucosae involvement -Rare developmental defect during embryogenesis -Rare genetic disease Unclassified dermis disorder -Rare skin disease |
Symptom Information:
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(HPO:0000158) | Macroglossia | Frequent [Orphanet] | 119 / 7739 | |||
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(HPO:0000163) | Abnormality of the oral cavity | Very frequent [Orphanet] | 37 / 7739 | |||
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(HPO:0000606) | Abnormality of the periorbital region | Very frequent [Orphanet] | 96 / 7739 | |||
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(HPO:0100582) | Nasal polyposis | Occasional [Orphanet] | 14 / 7739 | |||
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(HPO:0000171) | Microglossia | Frequent [Orphanet] | 27 / 7739 | |||
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(HPO:0012471) | Thick vermilion border | Very frequent [Orphanet] | 115 / 7739 | |||
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(HPO:0002015) | Dysphagia | Frequent [Orphanet] | 301 / 7739 | |||
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(HPO:0000738) | Hallucinations | 60 / 7739 | ||||
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(HPO:0000718) | Aggressive behavior | 109 / 7739 | ||||
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(HPO:0002354) | Memory impairment | 63 / 7739 | ||||
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(HPO:0011999) | Paranoia | 6 / 7739 | ||||
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(HPO:0001332) | Dystonia | Frequent [Orphanet] | 197 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0002514) | Cerebral calcification | Occasional [Orphanet] | 89 / 7739 | |||
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(HPO:0005671) | Bilateral intracranial calcifications | 9 / 7739 | ||||
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(HPO:0001031) | Subcutaneous lipoma | Very frequent [Orphanet] | 112 / 7739 | |||
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(HPO:0001061) | Acne | Very frequent [Orphanet] | 33 / 7739 | |||
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(HPO:0200037) | Skin vesicle | Very frequent [Orphanet] | 102 / 7739 | |||
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(HPO:0001006) | Hypotrichosis | Frequent [Orphanet] | 219 / 7739 | |||
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(HPO:0000987) | Atypical scarring of skin | Very frequent [Orphanet] | 58 / 7739 | |||
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(HPO:0001072) | Thickened skin | Very frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0002232) | Patchy alopecia | 4 / 7739 | ||||
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(HPO:0000951) | Abnormality of the skin | 147 / 7739 | ||||
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(HPO:0200039) | Pustule | Very frequent [Orphanet] | 20 / 7739 | |||
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(HPO:0000962) | Hyperkeratosis | Frequent [Orphanet] | 216 / 7739 | |||
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(HPO:0001608) | Abnormality of the voice | Very frequent [Orphanet] | 126 / 7739 | |||
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(HPO:0002205) | Recurrent respiratory infections | Frequent [Orphanet] | 254 / 7739 | |||
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(HPO:0001609) | Hoarse voice | 34 / 7739 | ||||
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(OMIM) | Absence of fear | 1 / 7739 | ||||
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(OMIM) | Thickened skin over the elbows and along the fingers | 1 / 7739 | ||||
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(OMIM) | Yellow, papular lesions of the lip, soft palate, pharynx | 1 / 7739 | ||||
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(OMIM) | Papules on the lips | 1 / 7739 | ||||
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(OMIM) | Verrucous lesions | 1 / 7739 | ||||
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(HPO:0012740) | Papilloma | Frequent [Orphanet] | 17 / 7739 | |||
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(OMIM) | Thickened tongue | 1 / 7739 | ||||
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(OMIM) | Acneform lesions | 1 / 7739 | ||||
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(MedDRA:10054826) | Pharyngeal lesion | 1 / 7739 | ||||
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(OMIM) | Calcification of the amygdala and the amygdala-hippocampal transition area | 1 / 7739 | ||||
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(MedDRA:10070246) | Executive dysfunction | 6 / 7739 | ||||
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(OMIM) | Episodic absence-like spells | 1 / 7739 | ||||
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(OMIM) | Acneform facial lesions | 1 / 7739 | ||||
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(OMIM) | Stiff skin | Very frequent [Orphanet] | 31 / 7739 | |||
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(OMIM) | Hoarse voice due to laryngeal infiltration | 1 / 7739 | ||||
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(OMIM) | Papules along the eyebrows and palpebral fissures | 1 / 7739 | ||||
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(OMIM) | Deposition of hyaline material in the skin | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Intracranial calcifications in the anterior mesial temporal lobes | 1 / 7739 | ||||
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(HPO:0030350) | Erythematous papule | Very frequent [Orphanet] | 123 / 7739 | |||
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(OMIM) | Laryngeal lesions resulting in hoarseness | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Description: (OMIM) |
Lipoid proteinosis of Urbach and Wiethe is a rare autosomal recessive disorder typified by generalized thickening of skin, mucosae, and certain viscera. Classic features include beaded eyelid papules and laryngeal infiltration leading to hoarseness. The disorder is clinically ... |
| Clinical Description OMIM |
This disorder was first reported by Urbach and Wiethe (1929). The association of early hoarseness with an unusual skin eruption suggests the diagnosis. Meenan et al. (1978) reported multiple cases in 2 closely related Irish families. ... |
| Genotype-Phenotype Correlations OMIM |
Hamada et al. (2003) sequenced the ECM1 gene in 10 unrelated patients with lipoid proteinosis. They concluded that exons 6 and 7 are the most common sites for ECM1 mutations in lipoid proteinosis and that clinically it appears ... |
| Molecular genetics OMIM | Using a candidate gene approach, Hamada et al. (2002) identified 6 different homozygous loss-of-function mutations in the extracellular matrix protein-1 gene (see, e.g., 602201.0001-602201.0003). |
| Population genetics OMIM | Lipoid proteinosis occurs worldwide, but is more common in certain areas such as the Northern Cape province of South Africa (Hamada et al., 2002). |