Neurogenic scapuloperoneal syndrome, Kaeser type
Synonyms: Kaeser syndrome · Stark-Kaeser syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
A rare, genetic, neuromuscular disease characterized by adult-onset muscle weakness and atrophy in a scapuloperoneal distribution, mild involvement of the facial muscles, dysphagia, and gynecomastia. Elevated serum CK levels and mixed myopathic and neurogenic abnormalities are associated clinical findings.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurogenic scapuloperoneal syndrome, Kaeser type | Kaeser syndrome · Stark-Kaeser syndrome |
| fr | Syndrome scapulo-péronier neurogénique type Kaeser | Syndrome de Kaeser · Syndrome de Stark-Kaeser |
| de | Neurogenes scapulo-peroneales Syndrom Typ Kaeser | Kaeser-Syndrom · Stark-Kaeser-Syndrom |
| es | Síndrome escapuloperoneal neurogénico, tipo Kaeser | Síndrome de Kaeser · Síndrome de Stark-Kaeser |
| it | Sindrome scapolo-peroneale neurogena tipo Kaeser | Sindrome di Kaeser · Sindrome di Stark-Kaeser |
| nl | Neurogeen scapuloperoneaal syndroom, Kaeser-type | Kaesersyndroom · Stark-Kaesersyndroom |
| pt | Amiotrofia escapuloperonial | |
| pl | Neurogenny zespół łopatkowo-strzałkowy, typ Kaesera | Zespół Kaesera · Zespół Starka i Kaesera |
| cs | Neurogenní skapuloperoneální syndrom, Kaeserův typ | Kaeserův syndrom · Starkův-Kaeserův syndrom · Stark-Kaeserův syndrom |
| uk | Нейрогенний скапулоперонеальний синдром, тип Кайзера | Синдром Кезера · Синдром Штарка-Казера |
| zh | 神经源性肩腓综合征，Kaeser型 | Stark-Kaeser综合征 |
| tr | Nörojenik skapuloperoneal sendrom, Kaeser tipi | Kaeser sendromu · Stark-Kaeser sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 181400 | E | validated | |
| ICD-10 | G12.1 | NTBT | inclusion | validated |
| MONDO | 0008407 | E | validated | |
| MeSH | C566695 | E | validated | |
| UMLS | C1867005 | E | validated | |
| GARD | 10312 | 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:98505Genetic motor neuron disease
rare genetic diseases; rare neurological diseases - ORPHA:209041Qualitative or quantitative defects of desmin
rare genetic diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DES | Disease-causing germline mutation(s) in | Assessed | HGNC:2770 | ENSG00000175084 | 125660 | 2q35 | desmin | 17439987[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 15 cases | Worldwide | Case(s) | Validated | 17439987[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17439987[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/85146
- This record as JSON: /data/d/85146.json