Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria
General Information (adopted from Orphanet):
| Synonyms, Signs: |
DISULFIDURIA, MIXED MCDU Ampola syndrome |
| Number of Symptoms | 38 |
| OrphanetNr: | 1035 |
| OMIM Id: |
249650
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| ICD-10: |
E72.1 |
| UMLs: |
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| MeSH: |
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| MedDRA: |
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| Snomed: |
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Prevalence, inheritance and age of onset:
| Prevalence: | No data available. |
| Inheritance: |
Autosomal dominant inheritance Autosomal recessive inheritance [Omim] |
| Age of onset: |
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Disease classification (adopted from Orphanet):
| Parent Diseases: |
Genetic neurodegenerative disease
-Rare genetic disease Rare neurodegenerative disease -Rare neurologic disease |
Symptom Information:
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(HPO:0003355) | Aminoaciduria | 65 / 7739 | ||||
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(HPO:0000069) | Abnormality of the ureter | Occasional [Orphanet] | 47 / 7739 | |||
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(HPO:0002705) | High, narrow palate | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0000494) | Downslanted palpebral fissures | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0005280) | Depressed nasal bridge | 381 / 7739 | ||||
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(HPO:0000218) | High palate | 356 / 7739 | ||||
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(HPO:0000348) | High forehead | Very frequent [Orphanet] | 157 / 7739 | |||
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(HPO:0000463) | Anteverted nares | Frequent [Orphanet] | 305 / 7739 | |||
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(HPO:0002007) | Frontal bossing | Frequent [Orphanet] | 366 / 7739 | |||
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(HPO:0000444) | Convex nasal ridge | Frequent [Orphanet] | 87 / 7739 | |||
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(HPO:0000486) | Strabismus | Frequent [Orphanet] | 576 / 7739 | |||
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(HPO:0000357) | Abnormal location of ears | Frequent [Orphanet] | 328 / 7739 | |||
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(HPO:0100720) | Hypoplasia of the ear cartilage | Frequent [Orphanet] | 12 / 7739 | |||
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(HPO:0001250) | Seizures | Very frequent [Orphanet] | 1245 / 7739 | |||
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(HPO:0002069) | Generalized tonic-clonic seizures | 96 / 7739 | ||||
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(HPO:0001249) | Intellectual disability | 1089 / 7739 | ||||
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(HPO:0002375) | Hypokinesia | 25 / 7739 | ||||
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(HPO:0002353) | EEG abnormality | Frequent [Orphanet] | 188 / 7739 | |||
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(HPO:0001382) | Joint hypermobility | Frequent [Orphanet] | 231 / 7739 | |||
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(HPO:0002983) | Micromelia | Frequent [Orphanet] | 130 / 7739 | |||
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(HPO:0011302) | Long palm | Frequent [Orphanet] | 70 / 7739 | |||
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(HPO:0001238) | Slender finger | Frequent [Orphanet] | 23 / 7739 | |||
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(HPO:0001852) | Sandal gap | Frequent [Orphanet] | 63 / 7739 | |||
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(HPO:0002857) | Genu valgum | Frequent [Orphanet] | 144 / 7739 | |||
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(HPO:0001537) | Umbilical hernia | Occasional [Orphanet] | 206 / 7739 | |||
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(HPO:0004322) | Short stature | Very frequent [Orphanet] | 1232 / 7739 | |||
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(HPO:0001513) | Obesity | Occasional [Orphanet] | 172 / 7739 | |||
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(HPO:0000958) | Dry skin | Frequent [Orphanet] | 152 / 7739 | |||
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(HPO:0001631) | Atria septal defect | Occasional [Orphanet] | 274 / 7739 | |||
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(HPO:0001252) | Muscular hypotonia | Frequent [Orphanet] | 990 / 7739 | |||
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(OMIM) | Beta-mercaptolactate-cysteine disulfiduria | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Placid | 1 / 7739 | ||||
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(OMIM) | Excess urinary mercaptolactate | 1 / 7739 | ||||
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(OMIM) | Excess urinary mercaptoacetate | 1 / 7739 | ||||
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(HPO:0012758) | Neurodevelopmental delay | Very frequent [Orphanet] | 949 / 7739 | |||
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(OMIM) | Hypokinetic | 1 / 7739 | ||||
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(OMIM) | Mercaptopyruvate sulfurtransferase (MST) deficiency | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
| Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
| Clinical Description OMIM |
Ampola et al. (1969) described a placid, hypokinetic, 45-year-old male, the product of brother-sister incest, who had a low IQ, grand mal seizures, flattened nasal bridge, and excessively arched palate. He was found in the course of screening ... |