ETHANOLAMINOSIS
General Information (adopted from Orphanet):
Synonyms, Signs: |
ETHANOLAMINE KINASE DEFICIENCY |
Number of Symptoms | 10 |
OrphanetNr: | |
OMIM Id: |
227150
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ICD-10: |
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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 recessive inheritance [Omim] |
Age of onset: |
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Disease classification (adopted from Orphanet):
Parent Diseases: | No data available. |
Symptom Information:
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(HPO:0001640) | Cardiomegaly | 81 / 7739 | ||||
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(HPO:0001939) | Abnormality of metabolism/homeostasis | 328 / 7739 | ||||
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(HPO:0001290) | Generalized hypotonia | 51 / 7739 | ||||
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(HPO:0001522) | Death in infancy | 275 / 7739 | ||||
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(OMIM) | Cerebral dysfunction | 1 / 7739 | ||||
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(OMIM) | Increased hepatic ethanolamine | 1 / 7739 | ||||
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(OMIM) | Increased renal excretion of ethanolamine | 1 / 7739 | ||||
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(OMIM) | Decreased hepatic ethanolamine kinase | 1 / 7739 | ||||
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(HPO:0000007) | Autosomal recessive inheritance | 2538 / 7739 | ||||
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(OMIM) | Lysosomal storage of PAS-positive, diastase-resistant substance | 1 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Clinical Description OMIM |
Vietor et al. (1977) described an infant brother and sister with a 'new' storage disease characterized by cardiomegaly, generalized muscular hypotonia, cerebral dysfunction, and death at ages 10 and 17 months. Manifestations were attributed to lysosomal storage of ... |