3-hydroxyisobutyric aciduria
General Information (adopted from Orphanet):
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Synonyms, Signs:
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Number of Symptoms
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28
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OrphanetNr:
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939
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OMIM Id:
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236795
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ICD-10:
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E71.1
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UMLs:
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C0342737
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MeSH:
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C535312
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MedDRA:
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Snomed:
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237957007
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Prevalence, inheritance and age of onset:
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Prevalence:
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No data available.
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Inheritance:
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Autosomal recessive inheritance
[Omim]
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Age of onset:
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Disease classification (adopted from Orphanet):
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Parent Diseases:
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Classic organic aciduria
-Rare genetic disease
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1
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(HPO:0003355)
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Aminoaciduria |
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65 / 7739
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2
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(HPO:0000343)
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Long philtrum |
Frequent [Orphanet]
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262 / 7739
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3
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(HPO:0000340)
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Sloping forehead |
Occasional [Orphanet]
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86 / 7739
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4
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(HPO:0001999)
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Abnormal facial shape |
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169 / 7739
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5
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(HPO:0000325)
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Triangular face |
Frequent [Orphanet]
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91 / 7739
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6
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(HPO:0000277)
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Abnormality of the mandible |
Occasional [Orphanet]
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394 / 7739
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7
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(HPO:0000252)
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Microcephaly |
Occasional [Orphanet]
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832 / 7739
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8
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(HPO:0008772)
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Aplasia/Hypoplasia of the external ear |
Frequent [Orphanet]
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67 / 7739
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9
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(HPO:0001250)
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Seizures |
Occasional [Orphanet]
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1245 / 7739
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10
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(HPO:0006906)
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Congenital intracerebral calcification |
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1 / 7739
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11
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(HPO:0002514)
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Cerebral calcification |
Occasional [Orphanet]
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89 / 7739
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12
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(HPO:0001511)
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Intrauterine growth retardation |
Occasional [Orphanet]
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358 / 7739
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13
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(HPO:0001508)
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Failure to thrive |
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454 / 7739
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14
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(HPO:0003128)
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Lactic acidosis |
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116 / 7739
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15
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(HPO:0005974)
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Episodic ketoacidosis |
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4 / 7739
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16
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(HPO:0004337)
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Abnormality of amino acid metabolism |
Very frequent [Orphanet]
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45 / 7739
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17
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(HPO:0002269)
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Abnormality of neuronal migration |
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10 / 7739
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18
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(OMIM)
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Low free carnitine |
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1 / 7739
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19
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(OMIM)
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3-hydroxyisobutyrate dehydrogenase deficiency |
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1 / 7739
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20
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(OMIM)
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Organic acidemia |
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2 / 7739
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21
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(OMIM)
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High esterified carnitine |
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1 / 7739
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22
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(HPO:0002119)
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Ventriculomegaly |
Occasional [Orphanet]
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253 / 7739
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23
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(OMIM)
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3-hydroxyisobutyric aciduria |
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2 / 7739
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24
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(HPO:0002334)
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Abnormality of the cerebellar vermis |
Occasional [Orphanet]
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137 / 7739
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25
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(HPO:0000007)
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Autosomal recessive inheritance |
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2538 / 7739
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26
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(HPO:0002120)
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Cerebral cortical atrophy |
Occasional [Orphanet]
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187 / 7739
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27
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(HPO:0011420)
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Death |
Frequent [Orphanet]
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184 / 7739
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28
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(HPO:0007370)
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Aplasia/Hypoplasia of the corpus callosum |
Occasional [Orphanet]
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180 / 7739
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ClinVar (via SNiPA)
| Gene symbol |
Variation |
Clinical significance |
Reference |