Cardiomyopathy-hypotonia-lactic acidosis syndrome
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Neonatal
- Status
- active
Cardiomyopathy-hypotonia-lactic acidosis syndrome is characterised by hypertrophic cardiomyopathy, muscular hypotonia and the presence of lactic acidosis at birth. It has been described in two sisters (both of whom died within the first year of life) from a nonconsanguineous Turkish family. The syndrome is caused by a homozygous point mutation in the exon 3A of the <i>SLC25A3</i> gene encoding a mitochondrial membrane transporter.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cardiomyopathy-hypotonia-lactic acidosis syndrome | |
| fr | Syndrome de cardiomyopathie-hypotonie-acidose lactique | |
| de | Kardiomyopathie-Muskelhypotonie-Laktatazidose-Syndrom | Phosphat-Transporter-Defekt, mitochondrialer |
| es | Síndrome de miocardiopatía-hipotonía-acidosis láctica | |
| it | Cardiomiopatia - ipotonia - acidosi lattica | |
| nl | Cardiomyopathie - hypotonie - lactaatacidose-syndroom | |
| pt | Miocardiopatia - hipotonia - acidose láctica | |
| pl | Kardiomiopatia - hipotonia - kwasica mleczanowa | |
| cs | Syndrom zahrnující kardiomyopatii, hypotonii a laktátovou acidózu | |
| uk | Синдром кардіоміопатії-гіпотонії-лактоацидозу | |
| zh | 心肌病-肌张力低下-乳酸性酸中毒综合征 | |
| tr | Kardiyomiyopati-hipotoni-laktik asidoz sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610773 | E | validated | |
| ICD-10 | I42.2 | NTBT | attributed | validated |
| ICD-11 | 5C53.30 | NTBT | index | validated |
| MONDO | 0012557 | E | validated | |
| UMLS | C4305259 | 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:254830Mitochondrial substrate carrier disorder
rare inborn errors of metabolism; rare genetic diseases - ORPHA:217595Syndrome associated with hypertrophic cardiomyopathy
rare cardiac diseases; rare genetic diseases; rare transplant-related disorders
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| SLC25A3 | Disease-causing germline mutation(s) in | Assessed | HGNC:10989 | ENSG00000075415 | 600370 | 12q23.1 | solute carrier family 25 member 3 | 17273968[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 17273968[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_17273968[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
11 annotations · validated 2017-01-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012103 | Abnormality of the mitochondrion | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0001252 | Hypotonia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0003128 | Lactic acidosis | |
| HP:0001942 | Metabolic acidosis | |
| Frequent (79-30%) | ||
| HP:0000961 | Cyanosis | |
| HP:0001508 | Failure to thrive | |
| HP:0009805 | Low-output congestive heart failure | |
| HP:0003198 | Myopathy | |
| Occasional (29-5%) | ||
| HP:0002098 | Respiratory distress | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 17273968[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/91130
- This record as JSON: /data/d/91130.json