ORPHA:2598
Mitochondrial myopathy and sideroblastic anemia
Synonyms: MLASA · Myopathy, lactic acidosis and sideroblastic anemia
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Adolescent, Childhood, Infancy
- Status
- active
Mitochondrial myopathy and sideroblastic anemia belongs to the heterogeneous family of metabolic myopathies. It is characterised by progressive exercise intolerance manifesting in childhood, onset of sideroblastic anaemia around adolescence, lactic acidaemia, and mitochondrial myopathy.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Mitochondrial myopathy and sideroblastic anemia | MLASA · Myopathy, lactic acidosis and sideroblastic anemia |
| fr | Myopathie mitochondriale et anémie sidéroblastique | MLASA · Myopathie, acidose lactique et anémie sidéroblastique |
| de | Mitochondriale Myopathie und sideroblastische Anämie | MLASA · Myopathie mit Laktatazidose und sideroblastische Anämie |
| es | Miopatía mitocondrial y anemia sideroblástica | MLASA · Miopatía, acidosis láctica y anemia sideroblástica |
| it | Miopatia mitocondriale - anemia sideroblastica | MLASA · MSA · Miopatia - acidosi lattica - anemia sideroblastica |
| nl | Mitochondriale myopathie en sideroblastische anemie | MLASA · Mitochondriale myopathie en sideroblastaire anemie · Myopathie, lactaatacidose en sideroblastische anemie · Myopathie, melkzuuracidose en sideroblastische anemie |
| pt | Miopatia mitocondrial e anemia sideroblástica | |
| pl | Miopatia mitochondrialna i anemia syderoblastyczna | Miopatia, kwasica mleczanowa i niedokrwistość syderoblastyczna · MLASA · MSA |
| cs | Mitochondriální myopatie a sideroblastická anémie | MLASA · MSA · Myopatie, laktátová acidóza a sideroblastická anémie |
| uk | Мітохондріальна міопатія та сидеробластна анемія | MLASA · Міопатія, молочнокислий ацидоз та сидеробластна анемія |
| zh | 线粒体肌病伴铁粒幼细胞性贫血 | 肌病，乳酸酸中毒与铁粒幼细胞性贫血 |
| tr | Mitokondriyal miyopati ve sideroblastik anemi | MLASA · Miyopati, laktik asidoz ve sideroblastik anemi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 500011 | BTNT | validated | |
| OMIM | 600462 | E | validated | |
| OMIM | 613561 | BTNT | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 3A72.0Y | NTBT | index | validated |
| MONDO | 0000863 | E | validated | |
| MeSH | C536101 | E | validated | |
| UMLS | C1838103 | E | validated | |
| GARD | 3885 | 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 (4):
- ORPHA:98362Constitutional sideroblastic anemia
rare genetic diseases; rare hematological diseases - ORPHA:35696Mitochondrial disorder due to a defect in mitochondrial protein synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206966Mitochondrial myopathy
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PUS1 | Disease-causing germline mutation(s) in | Assessed | HGNC:15508 | ENSG00000177192 | 608109 | 12q24.33 | pseudouridine synthase 1 | 21686963[PMID] |
| YARS2 | Disease-causing germline mutation(s) in | Assessed | HGNC:24249 | ENSG00000139131 | 610957 | 12p11.21 | tyrosyl-tRNA synthetase 2 | 20598274[PMID]_22504945[PMID]_24344687[PMID]_24430573[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 15971356[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
19 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001939 | Abnormality of metabolism/homeostasis | |
| HP:0001903 | Anemia | |
| HP:0009743 | Distichiasis | |
| HP:0003457 | EMG abnormality | |
| HP:0009055 | Generalized limb muscle atrophy | |
| HP:0000218 | High palate | |
| HP:0001252 | Hypotonia | |
| HP:0003128 | Lactic acidosis | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0003737 | Mitochondrial myopathy | |
| HP:0003198 | Myopathy | |
| Frequent (79-30%) | ||
| HP:0000823 | Delayed puberty | |
| HP:0000501 | Glaucoma | |
| HP:0001249 | Intellectual disability | |
| HP:0002808 | Kyphosis | |
| HP:0000252 | Microcephaly | |
| HP:0002650 | Scoliosis | |
| HP:0003196 | Short nose | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2598
- This record as JSON: /data/d/2598.json