ORPHA:284426
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Synonyms: GSD due to lactate dehydrogenase M-subunit deficiency · Glycogenosis due to lactate dehydrogenase M-subunit deficiency · LDH-M subunit deficiency · Lactate dehydrogenase A deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare glycogen storage disease characterized by easy fatigue, exertional myalgia, painful muscle stiffness, and cramps, with or without myoglobinuria. Pustular psoriasis-like eruptions with antecedent annular scaly plaques may be observed in some patients. In affected women, pregnancy may be complicated by abdominal pain and dystocia.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency | GSD due to lactate dehydrogenase M-subunit deficiency · Glycogenosis due to lactate dehydrogenase M-subunit deficiency · LDH-M subunit deficiency · Lactate dehydrogenase A deficiency |
| fr | Glycogénose par déficit en sous-unité M de la lactate déshydrogénase | Déficit en LDH-M · Déficit en lactate déshydrogénase A · GSD par déficit en sous-unité M de la lactate déshydrogénase |
| de | Glykogenose durch Laktat-Dehydrogenase M-Untereinheit-Mangel | GSD Typ 11 · Glykogen-Speicherkrankheit Typ 11 · Glykogen-Speicherkrankheit durch Laktat-Dehydrogenase M-Untereinheit-Mangel · Glykogenose Typ 11 · LDH-M-Untereinheit-Mangel · Laktat-Dehydrogenase A-Mangel |
| es | Enfermedad de almacenamiento por glucógeno por deficiencia de la subunidad M de la lactato deshidrogenasa | Deficiencia de la subunidad M-LDH · Deficiencia de lactato deshidrogenasa A · GSD por deficiencia de la subunidad M de la lactato deshidrogenasa · Glucogenosis por deficiencia de la subunidad M de la lactato deshidrogenasa |
| it | Malattia da deposito di glicogeno dovuta a deficit della subunità M della lattato deidrogenasi | Deficit della lattato deidrogenasi A · Deficit della subunità M-LDH · GSD da deficit della subunità M della lattato deidrogenasi · Glicogenosi da deficit della subunità M della lattato deidrogenasi |
| nl | Glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase M-subeenheid | Deficiëntie van LDH-M-subeenheid · GSD door deficiëntie van lactaatdehydrogenase M-subeenheid · Glycogenose door deficiëntie van lactaatdehydrogenase M-subeenheid · Lactaatdehydrogenase A-deficiëntie |
| pt | Doença de armazenamento de glicogénio por deficiência de subunidade M da lactato desidrogenase | Deficiência de lactato desidrogenase A · Deficiência de subunidade LDH-M · GSD por deficiência de subnidade M da lactato desidrogenase · Glicogenose por deficiência de subunidade M da lactato desidrogenase |
| pl | Choroba spichrzania glikogenu z powodu niedoboru podjednostki M dehydrogenazy mleczanowej | Choroba spichrzania glikogenu typu 11 · Glikogenoza typu 11 · Glikogenoza z powodu niedoboru podjednostki M dehydrogenazy mleczanowej · GSD typu 11 · GSD z powodu niedoboru podjednostki M dehydrogenazy mleczanowej · Niedobór dehydrogenazy mleczanowej A · Niedobór podjednostki LDH-M |
| cs | Glykogenóza způsobená deficitem M-podjednotky laktátdehydrogenázy | GSD, typ 11 · Glykogenóza · Glykogenóza, typ XI · Deficit M-podjednotky LDH · Deficit laktátdehydrogenázy A · GSD způsobená deficitem M-podjednotky laktátdehydrogenázy |
| uk | Хвороба накопичення глікогену внаслідок дефіциту М-субодиниці лактатдегідрогенази | Глікогеноз внаслідок дефіциту М-субодиниці лактатдегідрогенази · ГСД внаслідок дефіциту М-субодиниці лактатдегідрогенази · Дефіцит лактатдегідрогенази А · Дефіцит субодиниці ЛДГ-М |
| zh | 乳酸脱氢酶M亚单位缺乏所致糖原贮存病 | 乳酸脱氢酶M亚基缺陷所致GSD |
| tr | Laktat dehidrojenaz M-alt birim eksikliğine bağlı glikojen depo hastalığı | Laktat dehidrojenaz M-alt birim eksikliğine bağlı glikojenoz · GSD tip 11 · Glikojenoz tip 11 · LDH-M alt birimi eksikliği · Glikojen depo hastalığı tip 11 · Laktat dehidrojenaz A eksikliği · Laktat dehidrojenaz M-alt birim eksikliğine bağlı GSD |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 612933 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | attributed | validated |
| MONDO | 0013047 | E | validated | |
| MeSH | C538133 | E | validated | |
| UMLS | C2931743 | E | validated | |
| GARD | 3160 | 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 (2):
- ORPHA:2364Glycogen storage disease due to lactate dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases - ORPHA:206959Muscular glycogenosis
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 |
|---|---|---|---|---|---|---|---|---|
| LDHA | Disease-causing germline mutation(s) in | Assessed | HGNC:6535 | ENSG00000134333 | 150000 | 11p15.1 | lactate dehydrogenase A |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
23 annotations · validated 2021-06-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001787 | Abnormal delivery | |
| HP:0025528 | Annular cutaneous lesion | |
| HP:0003388 | Easy fatigability | |
| HP:0008331 | Elevated creatine kinase after exercise | |
| HP:0025474 | Erythematous plaque | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0008305 | Exercise-induced myoglobinuria | |
| HP:0009045 | Exercise-induced rhabdomyolysis | |
| HP:0025526 | Psoriasiform lesion | |
| HP:0200039 | Pustule | |
| HP:0011356 | Regional abnormality of skin | |
| HP:0040189 | Scaling skin | |
| Occasional (29-5%) | ||
| HP:0045040 | Abnormal lactate dehydrogenase activity | |
| HP:0001919 | Acute kidney injury | |
| HP:0012622 | Chronic kidney disease | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0002046 | Heat intolerance | |
| HP:0003072 | Hypercalcemia | |
| HP:0007432 | Intermittent generalized erythematous papular rash | |
| HP:0001036 | Parakeratosis | |
| HP:0031236 | Predominantly dermal neutrophilic infiltrate | |
| HP:0031190 | Superficial dermal perivascular inflammatory infiltrate | |
| Very rare (<4-1%) | ||
| HP:0000989 | Pruritus | |
Annotation source: 25640002[PMID]_27450766[PMID]_2620460[PMID]_7603529[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284426
- This record as JSON: /data/d/284426.json