LAMA5-related multisystemic syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare genetic systemic or rheumatologic disease characterized by infantile onset of skin anomalies (such as delayed wound healing with atrophic scars and mild alopecia with dry and brittle hair), retinal rod degeneration with night blindness, degenerative myopathy with muscle weakness, myalgia, and cramps, osteoarthritis, joint laxity, prolapse of internal organs, floating kidney syndrome, malabsorption syndrome, and hypothyroidism. The phenotype has been reported to be more severe in women than in men.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | LAMA5-related multisystemic syndrome | |
| fr | Syndrome multisystémique lié à LAMA5 | |
| de | LAMA5-assoziiertes multisystemisches Syndrom | |
| es | Síndrome multisistémico asociado a LAMA5 | |
| it | Malattia multisistemica correlata a LAMA5 | |
| nl | LAMA5-gerelateerd multisystemisch syndroom | |
| pt | Síndrome multissistémico LAMA5-relacionado | |
| pl | Zespół wieloukładowy związany z LAMA5 | |
| cs | LAMA5-vázaný multisystémový syndrom | |
| uk | Мультисистемний синдром, повязаний з LAMA5 | |
| zh | LAMA5基因相关的多系统综合征 | |
| tr | LAMA5-ilişkili multisistemik sendrom |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | M79.8 | NTBT | attributed | not yet validated |
| ICD-11 | FB56.6 | NTBT | attributed | validated |
| MONDO | 0033856 | E | validated | |
| UMLS | C5681442 | 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 (2):
- ORPHA:271870Rare genetic systemic or rheumatologic disease
rare genetic diseases - ORPHA:182222Rare systemic disease
rare systemic and rheumatological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LAMA5 | Disease-causing germline mutation(s) in | Assessed | HGNC:6485 | ENSG00000130702 | 601033 | 20q13.33 | laminin subunit alpha 5 | 28735299[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 11 cases | Worldwide | Case(s) | Validated | 28735299[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28735299[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/521450
- This record as JSON: /data/d/521450.json