Singleton-Merten dysplasia
Synonyms: Singleton-Merten syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- No data available
- Status
- active
Singleton-Merten dysplasia is characterized by dental dysplasia, progressive calcification of the thoracic aorta with stenosis, osteoporosis and expansion of the marrow cavities in hand bones. Additional features included generalized muscle weakness and atrophy, and chronic psoriasiform skin eruptions. It has been reported in four unrelated patients (male and female) and in a family with multiple affected members (male).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Singleton-Merten dysplasia | Singleton-Merten syndrome |
| fr | Dysplasie de Singleton-Merten | Syndrome de Singleton-Merten |
| de | Singleton-Merten-Dysplasie | Singleton-Merten-Syndrom |
| es | Displasia de Singleton-Merten | Síndrome de Singleton-Merten |
| it | Displasia di Singleton-Merten | Sindrome di Singleton-Merten |
| nl | Dysplasie, Singleton-Merten-type | Syndroom van Singleton-Merten |
| pt | Displasia de Singleton-Merten | |
| pl | Dysplazja Singletona i Mertena | Zespół Singletona i Mertena |
| cs | Singletonova-Mertenova dysplázie | Singletonův-Mertenův syndrom · Singleton-Mertenova dysplázie · Singleton-Mertenův syndrom |
| uk | Дисплазія Синглтона-Мертена | Синдром Сінглтона-Мертена |
| zh | Singleton-Merten发育不良 | Singleton-Merten综合征 |
| tr | Singleton-Merten displazisi | Singleton-Merten sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 182250 | E | validated | |
| OMIM | 616298 | BTNT | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD24.KY | NTBT | index | validated |
| MONDO | 0008429 | E | validated | |
| MeSH | C537343 | E | validated | |
| UMLS | C0432254 | E | validated | |
| GARD | 122 | 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 (3):
- ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:477647Type 1 interferonopathy
rare genetic diseases; rare systemic and rheumatological diseases - ORPHA:481671Type 1 interferonopathy of childhood
rare systemic or rheumatologic diseases of childhood
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| IFIH1 | Disease-causing germline mutation(s) (gain of function) in | Assessed | HGNC:18873 | ENSG00000115267 | 606951 | 2q24.2 | interferon induced with helicase C domain 1 | 25620204[PMID] |
| RIGI | Disease-causing germline mutation(s) in | Assessed | HGNC:19102 | ENSG00000107201 | 609631 | 9p21.1 | RNA sensor RIG-I | 25620203[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 22 cases | Worldwide | Case(s) | Validated | 23322711[PMID]_25620203[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23322711[PMID]_25620203[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/85191
- This record as JSON: /data/d/85191.json