ETHANOLAMINOSIS

General Information (adopted from Orphanet):

Synonyms, Signs: ETHANOLAMINE KINASE DEFICIENCY
Number of Symptoms 10
OrphanetNr:
OMIM Id: 227150
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001640) Cardiomegaly 81 / 7739
2
(HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
3
(HPO:0001290) Generalized hypotonia 51 / 7739
4
(HPO:0001522) Death in infancy 275 / 7739
5
(OMIM) Cerebral dysfunction 1 / 7739
6
(OMIM) Increased hepatic ethanolamine 1 / 7739
7
(OMIM) Increased renal excretion of ethanolamine 1 / 7739
8
(OMIM) Decreased hepatic ethanolamine kinase 1 / 7739
9
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
10
(OMIM) Lysosomal storage of PAS-positive, diastase-resistant substance 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

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 ...