ORPHA:88639
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Synonyms: HIBCH deficiency · Methacrylic aciduria · Valine metabolic defect
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy
- Status
- active
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency is characterised by delayed motor development, hypotonia and progressive neurodegeneration. To date, it has been described in four boys. The syndrome is caused by mutations affecting the two alleles of the <i> HIBCH</i> gene, encoding 3-hydroxyisobutyryl-CoA hydrolase. The mode of transmission has not yet been established.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency | HIBCH deficiency · Methacrylic aciduria · Valine metabolic defect |
| fr | Neurodégénérescence par déficit en 3-hydroxyisobutyryl-CoA hydrolase | Acidurie méthacrylique · Déficit en HIBCH · Trouble du métabolisme de la valine |
| de | Neurodegeneration durch 3-Hydroxyisobutyryl-CoA-Hydrolase-Mangel | HIBCH-Mangel · Metabolischer Valin-Defekt · Methacrylat-Azidurie |
| es | Neurodegeneración por deficiencia en 3-hidroxisobutiril-CoA-hidrolasa | Aciduria metacrílica · Defecto metabólico de la valina · Deficiencia de HIBCH |
| it | Neurodegenerazione da deficit di 3-idrossi-isobutirril-CoA idrolasi | Aciduria metacrilica · Deficit di HIBCH · Difetto del metabolismo della valina |
| nl | Neurodegeneratie door deficiëntie van 3-hydroxyisobutyryl-CoA-hydrolase | Defect van metabolisme van valine · HIBCH-deficiëntie · Methacrylacidurie |
| pt | Neurodegenerescência por deficiência da 3-hidroxi-isobutiril-CoA hidrolase | |
| pl | Neurodegeneracja spowodowana niedoborem hydrolazy 3-hydroksyizobutyrylo-CoA | Acyduria metakrylowa · Defekt metabolizmu waliny · Niedobór HIBCH |
| cs | Neurodegenerace způsobená deficitem 3-hydroxyisobutyryl-CoA hydrolázy | Deficit HIBCH · Metakrylová acidurie · Porucha metabolismu valinu |
| uk | Нейродегенерація внаслідок дефіциту 3-гідроксиізобутирил-КоА-гідролази | Дефіцит HIBCH · Метакрилова ацидурія · Дефект обміну валіну |
| zh | 3-羟基异丁酰-辅酶A水解酶缺乏所致神经退行性病变 | 缬氨酸代谢障碍 |
| tr | 3-hidroksiizobütiril-KoA hidrolaz eksikliğine bağlı nörodejenerasyon | HIBCH eksikliği · Metakrilik asidüri · Valin metabolik defekti |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 250620 | E | validated | |
| ICD-10 | E71.1 | NTBT | attributed | validated |
| ICD-11 | 5C50.E0 | NTBT | index | validated |
| MONDO | 0009603 | E | validated | |
| MeSH | C562803 | E | validated | |
| UMLS | C0342738 | E | validated | |
| GARD | 13202 | 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 (3):
- ORPHA:79163Classic 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
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| HIBCH | Disease-causing germline mutation(s) in | Assessed | HGNC:4908 | ENSG00000198130 | 610690 | 2q32.2 | 3-hydroxyisobutyryl-CoA hydrolase | 17160907[PMID]_24299452[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 29703962[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29703962[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
31 annotations · validated 2019-07-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001332 | Dystonia | |
| HP:0001252 | Hypotonia | |
| HP:0001270 | Motor delay | |
| HP:0002344 | Progressive neurologic deterioration | |
| HP:0002013 | Vomiting | |
| Frequent (79-30%) | ||
| HP:0003468 | Abnormal vertebral morphology | |
| HP:0003287 | Abnormality of mitochondrial metabolism | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000286 | Epicanthus | |
| HP:0011334 | Facial shape deformation | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001347 | Hyperreflexia | |
| HP:0002521 | Hypsarrhythmia | |
| HP:0002151 | Increased circulating lactate concentration | |
| HP:0012469 | Infantile spasms | |
| HP:0001942 | Metabolic acidosis | |
| HP:0000639 | Nystagmus | |
| HP:0001250 | Seizure | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0002078 | Truncal ataxia | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0000028 | Cryptorchidism | |
| HP:0001298 | Encephalopathy | |
| HP:0000737 | Irritability | |
| HP:0002352 | Leukoencephalopathy | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0012697 | Small basal ganglia | |
| Very rare (<4-1%) | ||
| HP:0002599 | Head titubation | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 24299452[PMID]_25251209[PMID]_26163321[PMID]_7122152[PMID]
7
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/88639
- This record as JSON: /data/d/88639.json