HSD10 disease, neonatal type
Synonyms: 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type · HSD10 deficiency, neonatal type · MHBD deficiency, neonatal type · 2-methyl-3-hydroxybutyric aciduria, neonatal type
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- X-linked dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
HSD10 disease, neonatal type is the most severe form of HSD10 disease, a rare neurometabolic disorder. It is characterized by severe metabolic/lactic acidosis in the neonatal period, little psychomotor development, seizures and severe progressive hypertrophic cardiomyopathy. Hepatic involvement and coagulopathy are rare. The disease is fatal within the first months of life.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HSD10 disease, neonatal type | 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type · HSD10 deficiency, neonatal type · MHBD deficiency, neonatal type · 2-methyl-3-hydroxybutyric aciduria, neonatal type |
| fr | Maladie HSD10 type néonatal | Acidurie 2-méthyl-3-hydroxybutyrique type néonatal · Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase type néonatal · Déficit en HSD10 type néonatal · Déficit en MHBD type néonatal |
| de | HSD10-Krankheit, neonataler Typ | 2-Methyl-3-Hydroxybutyrazidurie, neonataler Typ · 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel, neonataler Typ · HSD10-Mangel, neonataler Typ · MHBD-Mangel, neonataler Typ |
| es | Enfermedad de HSD10 tipo neonatal | Aciduria 2-metil-3-hidroxibutírica tipo neonatal · Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa tipo neonatal · Deficiencia de HSD10 tipo neonatal · Deficiencia de MHBD tipo neonatal |
| it | Malattia HSD10, forma neonatale | Deficit di 2-metil-3-idrossibutirril-CoA deidrogenasi, forma neonatale · Deficit di HSD10, forma neonatale · Deficit di MHBD, forma neonatale |
| nl | HSD10-ziekte, neonataal type | 2-methyl-3-hydroxybutaanzuuracidurie, neonataal type · 2-methyl-3-hydroxybutyryl-CoA dehydrogenasedeficiëntie, neonataal type · HSD10-deficiëntie, neonataal type · MHBD-deficiëntie, neonataal type |
| pt | Doença HSD10, tipo neonatal | |
| pl | Choroba HSD10, typ noworodkowy | Acyduria 2-metylo-3-hydroksymasłowa, typ noworodkowy · Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA, typ noworodkowy · Niedobór HSD10, typ noworodkowy · Niedobór MHBD, typ noworodkowy |
| cs | Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy, neonatální typ | 2-methyl-3-hydroxymáselná acidurie, neonatální typ · HSD10 deficit, neonatální typ · MHBD deficit, neonatální typ |
| uk | Хвороба HSD10, неонатальний тип | 2-метил-3-гідроксимасляна ацидурія, неонатальний тип · Дефіцит 2-метил-3-гідроксибутирил-КоА-дегідрогенази, неонатальний тип · Дефіцит HSD10, неонатальний тип · Дефіцит MHBD, неонатальний тип |
| zh | 新生儿型HSD10病 | 新生儿型2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症 |
| tr | HSD10 hastalığı, yenidoğan tipi | MHBD eksikliği, yenidoğan tipi · HSD10 eksikliği, yenidoğan tipi · 2-metil-3-hidroksibütirik asidüri, yenidoğan tipi · 2-metil-3-hidroksibütiril-CoA dehidrojenaz eksikliği, yenidoğan tipi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300438 | NTBT | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | attributed | validated |
| MONDO | 0018323 | E | validated | |
| UMLS | C5680026 | 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 (1):
- ORPHA:391417HSD10 disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HSD17B10 | Disease-causing germline mutation(s) in | Assessed | HGNC:4800 | ENSG00000072506 | 300256 | Xp11.22 | hydroxysteroid 17-beta dehydrogenase 10 | 22127393[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 3 cases | Worldwide | Case(s) | Validated | 22127393[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.
HPO phenotypes
9 annotations · validated 2020-10-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0500170 | Abnormal concentration of acylcarnitine in the urine | |
| HP:0012379 | Abnormal enzyme/coenzyme activity | |
| HP:0001263 | Global developmental delay | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
| HP:0003128 | Lactic acidosis | |
| HP:0001942 | Metabolic acidosis | |
| HP:0001250 | Seizure | |
| Occasional (29-5%) | ||
| HP:0003256 | Abnormality of the coagulation cascade | |
| HP:0001392 | Abnormality of the liver | |
Run the differential on the 7 obligate / very frequent terms
Annotation source: 22127393[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391457
- This record as JSON: /data/d/391457.json