ORPHA:1369
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Synonyms: Sengers syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy (CCM) is a mitochondrial disease characterized by cataracts, hypertrophic cardiomyopathy, muscle weakness and lactic acidosis after exercise.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome | Sengers syndrome |
| fr | Syndrome de cataracte congénitale-cardiomyopathie hypertrophique-myopathie mitochondriale | Syndrome de Sengers |
| de | Kongenitale Katarakt-hypertrophe Kardiomyopathie-mitochondriale Myopathie-Syndrom | Sengers-Syndrom |
| es | Síndrome de catarata congénita-miocardiopatía hipertrófica-miopatía mitocondrial | |
| it | Cataratta congenita - cardiomiopatia ipertrofica - miopatia mitocondriale | Sindrome di Sengers |
| nl | Congenitaal cataract - hypertrofische cardiomyopathie - mitochondriale myopathie-syndroom | Syndroom van Sengers |
| pt | Catarata-miocardiopatia | Síndrome Sengers |
| pl | Zaćma wrodzona - kardiomiopatia przerostowa - miopatia mitochondrialna | Zespół Sengersa |
| cs | Syndrom zahrnující vrozenou kataraktu, hypertrofickou kardiomyopatii a mitochondriální myopatii | Sengersův syndrom |
| uk | Синдром вродженої катаракти-гіпертрофічної кардіоміопатії-мітохондріальної міопатії | Синдром Сенгерса |
| zh | 先天性白内障-肥厚型心肌病-线粒体性肌病综合征 | Sengers综合征 |
| tr | Doğumsal katarakt-hipertrofik kardiyomiyopati-mitokondriyal miyopati sendromu | Sengers sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 212350 | E | validated | |
| OMIM | 615418 | BTNT | validated | |
| OMIM | 618805 | BTNT | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C53.Y | NTBT | index | validated |
| MONDO | 0008922 | E | validated | |
| MeSH | C538280 | E | validated | |
| UMLS | C1859317 | E | validated | |
| GARD | 1142 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (7):
- ORPHA:352312Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217587Mitochondrial disease with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders - ORPHA:254830Mitochondrial substrate carrier disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98641Syndromic cataract
rare ophthalmic disorders - ORPHA:98683Syndromic disorder with strabismus
rare ophthalmic disorders - ORPHA:522548Syndromic genetic cataract
rare genetic diseases - ORPHA:522520Syndromic genetic disorder with strabismus
rare genetic diseases
No children.
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Genes
3 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| AGK | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:21869 | ENSG00000006530 | 610345 | 7q34 | acylglycerol kinase | 22284826[PMID] |
| SLC25A4 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:10990 | ENSG00000151729 | 103220 | 4q35.1 | solute carrier family 25 member 4 | 22187496[PMID] |
| TKFC | Disease-causing germline mutation(s) in | Assessed | HGNC:24552 | ENSG00000149476 | 615844 | 11q12.2 | triokinase and FMN cyclase | 32004446[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 40 cases | Worldwide | Case(s) | Validated | 22284826[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000518 | Cataract | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0003128 | Lactic acidosis | |
| HP:0003198 | Myopathy | |
| HP:0000639 | Nystagmus | |
| HP:0000486 | Strabismus | |
| Frequent (79-30%) | ||
| HP:0000545 | Myopia | |
| Occasional (29-5%) | ||
| HP:0000512 | Abnormal electroretinogram | |
| HP:0001131 | Corneal dystrophy | |
| HP:0000501 | Glaucoma | |
Run the differential on the 6 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1369
- This record as JSON: /data/d/1369.json