ORPHA:43115
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Synonyms: ISCU-related myopathy · Myopathy due to succinate dehydrogenase and aconitase deficiency · Myopathy with exercise intolerance, Swedish type
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare disorder of energy metabolism characterized clinically by myopathy with severe exercise intolerance, and biochemically by deficiencies of skeletal muscle mitochondrial respiratory chain enzymes, succinate dehydrogenase and aconitase.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary myopathy with lactic acidosis due to ISCU deficiency | ISCU-related myopathy · Myopathy due to succinate dehydrogenase and aconitase deficiency · Myopathy with exercise intolerance, Swedish type |
| fr | Myopathie héréditaire avec acidose lactique par déficit en ISCU | Myopathie associée à ISCU · Myopathie avec intolérance à l'effort type suédois · Myopathie par déficit en succinate déshydrogénase et aconitase |
| de | Hereditäre Myopathie mit Laktatazidose durch ISCU-Mangel | Myopathie mit Belastungsintoleranz, Schwedischer Typ · ISCU-Myopathie · Myopathie durch Succinatdehydrogenase- und Aconitase-Mangel |
| es | Miopatía hereditaria con acidosis láctica por deficiencia de ISCU | Miopatía asociada a ISCU · Miopatía con intolerancia al ejercicio tipo sueco · Miopatía por deficiencia de succinato deshidrogenasa y aconitasa |
| it | Miopatia ereditaria con acidosi lattica da deficit di ISCU | Deficit di aconitasi · Miopatia ISCU · Miopatia con intolleranza all'esercizio, tipo svedese · Miopatia da deficit del cluster ferro-zolfo |
| nl | Hereditaire myopathie met lactaatacidose door ISCU-deficiëntie | Erfelijke myopathie met melkzuuracidose door ISCU-deficiëntie · ISCU-myopathie · Myopathie door deficiëntie van succinaatdehydrogenase en aconitase · Myopathie met inspanningsintolerantie, Zweeds type |
| pt | Miopatia hereditária com acidose lática devida a deficiência de ISCU | Miopatia ISCU-relacionada · Miopatia com intolerância ao exercício, tipo Sueco · Miopatia devido a deficiência de succinato desidrogenase e aconitase |
| pl | Dziedziczna miopatia z kwasicą mleczanową spowodowana niedoborem ISCU | Miopatia ISCU · Miopatia z niedoboru kompleksów jonów żelaza i siarki · Miopatia z nietolerancją wysiłku, typ szwedzki · Niedobór akonitazy |
| cs | Dědičná myopatie s laktátovou acidózou způsobená deficitem ISCU | Deficit akonitasy · ISCU myopatie · Myopatie s deficitem klastru železo-síra · Myopatie s intolerancí cvičení, švédský typ |
| uk | Спадкова міопатія з молочнокислим ацидозом внаслідок дефіциту ISCU | Дефіцит аконітази · Міопатія внаслідок дефіциту залізо-сірчаного кластеру · Міопатія ISCU · Міопатія з непереносимістю фізичних навантажень, шведський тип |
| zh | ISCU缺乏所致遗传性肌病伴乳酸酸中毒 | 运动不耐受性肌病瑞典型 |
| tr | ISCU eksikliğine bağlı laktik asidoz ile seyreden kalıtsal miyopati | ISCU miyopatisi · Akonitaz eksikliği · Demir-sülfür küme eksikliği miyopatisi · Egzersiz intoleransı olan miyopati, İsveç tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 255125 | E | validated | |
| ICD-10 | G71.3 | NTBT | attributed | validated |
| ICD-11 | 5C53.1 | NTBT | index | validated |
| MONDO | 0009706 | E | validated | |
| MeSH | C564972 | E | validated | |
| UMLS | C1850718 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:254843Exercise intolerance with lactic acidosis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:98486Metabolic myopathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ISCU | Disease-causing germline mutation(s) in | Assessed | HGNC:29882 | ENSG00000136003 | 611911 | 12q23.3 | iron-sulfur cluster assembly enzyme | 20301757[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 20301757[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301757[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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/43115
- This record as JSON: /data/d/43115.json