DIAMINOPENTANURIA

General Information (adopted from Orphanet):

Synonyms, Signs: CYSTINE-LYSINURIA
Number of Symptoms 9
OrphanetNr:
OMIM Id: 222350
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:0003297) Hyperlysinuria 10 / 7739
2
 (HPO:0003131) Cystinuria 6 / 7739
3
 (HPO:0001257) Spasticity 251 / 7739
4
 (HPO:0001251) Ataxia 413 / 7739
5
 (HPO:0001250) Seizures 1245 / 7739
6
 (OMIM) Progressive cortical degeneration 1 / 7739
7
 (OMIM) 1,5-diaminopentanuria 1 / 7739
8
 (HPO:0002180) Neurodegeneration 31 / 7739
9
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: