ORPHA:284435
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Synonyms: GSD due to lactate dehydrogenase H-subunit deficiency · Glycogenosis due to lactate dehydrogenase H-subunit deficiency · LDH-H subunit deficiency · Lactate dehydrogenase B deficiency
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Autosomal recessive
- Age of onset
- Adult
- Status
- active
This disease is described under Glycogen storage disease due to lactate dehydrogenase deficiency
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency | GSD due to lactate dehydrogenase H-subunit deficiency · Glycogenosis due to lactate dehydrogenase H-subunit deficiency · LDH-H subunit deficiency · Lactate dehydrogenase B deficiency |
| fr | Glycogénose par déficit en sous-unité H de la lactate déshydrogénase | Déficit en LDH-H · Déficit en lactate déshydrogénase B · GSD par déficit en sous-unité H de la lactate déshydrogénase |
| de | Glykogenose durch Laktat-Dehydrogenase H-Untereinheit-Mangel | LDH-H-Untereinheit-Mangel · Laktat-Dehydrogenase B-Mangel · Glykogen-Speicherkrankheit durch Laktat-Dehydrogenase H-Untereinheit-Mangel |
| es | Enfermedad por almacenamiento de glucógeno por deficiencia de la subunidad H de la lactato deshidrogenasa | Deficiencia de la subunidad H-LDH · Deficiencia de lactato deshidrogenasa B · GSD por deficiencia de la subunidad H de la lactato deshidrogenasa · Glucogenosis por deficiencia de la subunidad H de la lactato deshidrogenasa |
| it | Malattia da deposito di glicogeno dovuta a deficit della subunità H della lattato deidrogenasi | Deficit della lattato deidrogenasi B · Deficit della subunità H-LDH · GSD da deficit della subunità H della lattato deidrogenasi · Glicogenosi da deficit della subunità H della lattato deidrogenasi |
| nl | Glycogeenstapelingsziekte door deficiëntie van lactaatdehydrogenase H-subeenheid | Deficiëntie van LDH-H-subeenheid · GSD door deficiëntie van lactaatdehydrogenase H-subeenheid · Glycogenose door deficiëntie van lactaatdehydrogenase H-subeenheid · Lactaatdehydrogenase B-deficiëntie |
| pt | Doença de armazenamento de glicogénio por deficiência da subunidade H da lactato desidrogenase | Deficiência de subunidade H da lactato desidrogenase · Glicogenose por deficiência da subunidade H da lactato desidrogenase |
| pl | Choroba spichrzania glikogenu z powodu niedoboru podjednostki H dehydrogenazy mleczanowej | Glikogenoza z powodu niedoboru podjednostki H dehydrogenazy mleczanowej · GSD z powodu niedoboru podjednostki H dehydrogenazy mleczanowej · Niedobór dehydrogenazy mleczanowej B · Niedobór podjednostki LDH-H |
| cs | Glykogenóza způsobená deficitem H-podjednotky laktátdehydrogenázy | Deficit H-podjednotky LDH · Deficit laktátdehydrogenázy B · GSD způsobená deficitem H-podjednotky laktátdehydrogenázy |
| uk | Хвороба накопичення глікогену внаслідок дефіциту Н-субодиниці лактатдегідрогенази | Глікогеноз внаслідок дефіциту Н-субодиниці лактатдегідрогенази · GSD внаслідок дефіциту Н-субодиниці лактатдегідрогенази · Дефіцит лактатдегідрогенази В · Дефіцит субодиниці ЛДГ-Н |
| zh | 乳酸脱氢酶H亚单位缺乏所致糖原贮存病 | 乳酸脱氢酶H亚基缺陷所致GSD |
| tr | Laktat dehidrojenaz H-alt birim eksikliğine bağlı glikojen depo hastalığı | Laktat dehidrojenaz H-alt birim eksikliğine bağlı glikojenoz · LDH-H alt birimi eksikliği · Laktat dehidrojenaz B eksikliği · Laktat dehidrojenaz H-alt birim eksikliğine bağlı GSD |
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614128 | E | validated | |
| ICD-10 | E74.0 | NTBT | attributed | validated |
| ICD-11 | 5C51.3 | NTBT | attributed | validated |
| MONDO | 0013587 | E | validated | |
| MeSH | C563641 | E | validated | |
| UMLS | C3279904 | E | validated | |
| GARD | 3161 | 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 (1):
- ORPHA:2364Glycogen storage disease due to lactate dehydrogenase deficiency
rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LDHB | Disease-causing germline mutation(s) in | Assessed | HGNC:6541 | ENSG00000111716 | 150100 | 12p12.1 | lactate dehydrogenase B |
5
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.
6
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/284435
- This record as JSON: /data/d/284435.json