Hyperdibasic aminoaciduria type 1

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 7
OrphanetNr: 1032
OMIM Id: 222690
ICD-10: E72.0
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: Disorder of amino acid absorption and transport
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003268) Argininuria 5 / 7739
2
 (HPO:0003532) Ornithinuria 5 / 7739
3
 (HPO:0003297) Hyperlysinuria 10 / 7739
4
 (HPO:0003168) Dibasicaminoaciduria 5 / 7739
5
 (HPO:0001249) Intellectual disability 1089 / 7739
6
 (HPO:0002024) Malabsorption 142 / 7739
7
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: