EMILIN-1-related connective tissue disease
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare hereditary disease with peripheral neuropathy characterized by distal sensorimotor or motor neuropathy of the lower limbs with muscle weakness and atrophy. Some patients show overt connective tissue disease with signs and symptoms like increased skin elasticity and easy bruising (but no atrophic scarring), decreased clotting, aortic aneurysms, joint hypermobility, and recurrent tendon ruptures.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | EMILIN-1-related connective tissue disease | |
| fr | Connectivite associée à EMILIN-1 | |
| de | EMILIN-1-assoziierte Bindegewebskrankheit | |
| es | Enfermedad del tejido conectivo asociada al gen EMILIN-1 | |
| it | Malattia del tessuto connettivo correlata a EMILINA-1 | |
| nl | EMILIN-1-gerelateerde bindweefselziekte | |
| pt | Doença do tecido conjuntivo EMILIN-1-relacionada | |
| pl | Choroba tkanki łącznej związana z EMILIN-1 | |
| cs | EMILIN-1-vázaná porucha pojiva | |
| uk | Захворювання сполучної тканини, повязане з EMILIN-1 | |
| zh | EMILIN-1相关结缔组织病 | |
| tr | EMILIN-1-ilişkili bağ dokusu hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 620080 | E | validated | |
| ICD-10 | G60.8 | NTBT | attributed | validated |
| MONDO | 0044622 | E | validated | |
| UMLS | C5681244 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:207021Rare hereditary systemic disease with peripheral neuropathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EMILIN1 | Disease-causing germline mutation(s) in | Assessed | HGNC:19880 | ENSG00000138080 | 130660 | 2p23.3 | elastin microfibril interfacer 1 | 26462740[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 26462740[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26462740[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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/485418
- This record as JSON: /data/d/485418.json