ORPHA:391417
HSD10 disease
Synonyms: 2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency · HSD10 deficiency · MHBD deficiency
- Type
- Disease
- Group
- Disorder
- Inheritance
- X-linked dominant
- Age of onset
- Childhood, Infancy, Neonatal
- Status
- active
HSD10 disease is a rare, life-threatening neurometabolic disease characterized by a progressive neurodegenerative course, epilepsy, retinopathy and progressive cardiomyopathy.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | HSD10 disease | 2-methyl-3-hydroxybutyric aciduria · 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency · HSD10 deficiency · MHBD deficiency |
| fr | Maladie HSD10 | Acidurie 2-méthyl-3-hydroxybutyrique · Déficit en 2-méthyl-3-hydroxybutyryl-CoA déshydrogénase · Déficit en HSD10 · Déficit en MHBD |
| de | HSD10-Krankheit | 2-Methyl-3-Hydroxybutyrazidurie · 2-Methyl-3-Hydroxybutyryl-CoA-Dehydrogenase-Mangel · HSD10-Mangel · MHBD-Mangel |
| es | Enfermedad de HSD10 | Aciduria 2-metil-3-hidroxibutírica · Deficiencia de 2-metil-3-hidroxibutiril-CoA deshidrogenasa · Deficiencia de HSD10 · Deficiencia de MHBD |
| it | Malattia HSD10 | Aciduria 2-metil-3-idrossibutirrica · Deficit di 2-metil-3-idrossibutirril-CoA deidrogenasi · Deficit di HSD10 · Deficit di MHBD |
| nl | HSD10-ziekte | 2-methyl-3-hydroxybutaanzuuracidurie · 2-methyl-3-hydroxybutyryl-CoA dehydrogenasedeficiëntie · HSD10-deficiëntie · MHBD-deficiëntie |
| pt | Doença HSD10 | |
| pl | Choroba HSD10 | Acyduria 2-metylo-3-hydroksymasłowa · Niedobór dehydrogenazy 2-metylo-3-hydroksymasłowego-CoA · Niedobór HSD10 · Niedobór MHBD |
| cs | Deficit 2-methyl-3-hydroxybutyryl-CoA dehydrogenázy | 2-methyl-3-hydroxymáselná acidurie · Deficit HSD10 · Deficit MHBD |
| uk | Хвороба HSD10 | 2-метил-3-гідроксимасляна ацидурія · Дефіцит 2-метил-3-гідроксибутирил-КоА-дегідрогенази · Дефіцит HSD10 · Дефіцит MHBD |
| zh | HSD10病 | 2-甲基-3-羟丁酰辅酶A脱氢酶缺乏症 |
| tr | HSD10 hastalığı | MHBD eksikliği · HSD10 eksikliği · 2-metil-3-hidroksibütirik asidüri · 2-metil-3-hidroksibütiril-CoA dehidrojenaz eksikliği |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 300438 | E | validated | |
| ICD-10 | E72.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.01 | NTBT | index | validated |
| MONDO | 0010327 | E | validated | |
| MeSH | C564560 | E | validated | |
| UMLS | C3266731 | E | validated | |
| GARD | 10716 | 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 (3):
- ORPHA:79158Cerebral organic aciduria
rare inborn errors of metabolism; rare genetic diseases - ORPHA:68385Neurometabolic disease
rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
4
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| HSD17B10 | ORPHA:85295HSD10 disease, atypical type | Disease-causing germline mutation(s) in | Assessed | HGNC:4800 | ENSG00000072506 | 300256 | Xp11.22 | hydroxysteroid 17-beta dehydrogenase 10 | 22127393[PMID] |
| HSD17B10 | ORPHA:391428HSD10 disease, infantile type | Disease-causing germline mutation(s) in | Assessed | HGNC:4800 | ENSG00000072506 | 300256 | Xp11.22 | hydroxysteroid 17-beta dehydrogenase 10 | 22127393[PMID] |
| HSD17B10 | ORPHA:391457HSD10 disease, neonatal type | Disease-causing germline mutation(s) in | Assessed | HGNC:4800 | ENSG00000072506 | 300256 | Xp11.22 | hydroxysteroid 17-beta dehydrogenase 10 | 22127393[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 37 cases | Worldwide | Case(s) | Validated | 27306202[PMID]_27295195[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27306202[PMID]_27295195[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.
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HPO phenotypes
37 annotations · validated 2019-09-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0012073 | Abnormal urinary acylglycine profile | |
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0002376 | Developmental regression | |
| HP:0040155 | Elevated urinary 3-hydroxybutyric acid | |
| HP:0001263 | Global developmental delay | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0000529 | Progressive visual loss | |
| HP:0001250 | Seizure | |
| HP:0001328 | Specific learning disability | |
| Occasional (29-5%) | ||
| HP:0012433 | Abnormal social behavior | |
| HP:0001251 | Ataxia | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0001266 | Choreoathetosis | |
| HP:0004925 | Chronic lactic acidosis | |
| HP:0001260 | Dysarthria | |
| HP:0008947 | Floppy infant | |
| HP:0007042 | Focal white matter lesions | |
| HP:0006892 | Frontotemporal cerebral atrophy | |
| HP:0001288 | Gait disturbance | |
| HP:0000365 | Hearing impairment | |
| HP:0001336 | Myoclonus | |
| HP:0000648 | Optic atrophy | |
| HP:0000736 | Short attention span | |
| Very rare (<4-1%) | ||
| HP:0002307 | Drooling | |
| HP:0002015 | Dysphagia | |
| HP:0002579 | Gastrointestinal dysmotility | |
| HP:0001347 | Hyperreflexia | |
| HP:0000252 | Microcephaly | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0007030 | Nonprogressive encephalopathy | |
| HP:0000639 | Nystagmus | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0002063 | Rigidity | |
| HP:0002313 | Spastic paraparesis | |
| HP:0001337 | Tremor | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 1 obligate / very frequent terms
Annotation source: 27295195[PMID]_26950678[PMID]_22132097[PMID]_16148061[PMID]_14729408[PMID]_12555940[PMID]_11102558[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/391417
- This record as JSON: /data/d/391417.json