HYDROXYPROLINEMIA

General Information (adopted from Orphanet):

Synonyms, Signs: 4-&#64
HYDROXY-L-PROLINE OXIDASE DEFICIENCY
Number of Symptoms 6
OrphanetNr:
OMIM Id: 237000
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:0002907) Microscopic hematuria 27 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0003260) Hydroxyprolinemia 2 / 7739
4
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
5
(OMIM) Episodic psychotic behavior 1 / 7739
6
(OMIM) 4-hydroxy-L-proline oxidase deficiency 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hydroxyproline is an imino acid normally present in human plasma. It is derived primarily from endogenous collagen turnover and the breakdown of dietary collagen. The finding of elevated (5- to 10-fold increase from the normal of less than ...
Clinical Description OMIM Elevated serum hydroxyproline appears not to cause any significant clinical symptoms. Pelkonen and Kivirikko (1970) described hydroxyprolinemia in a brother and sister. No clinical abnormality was present and the authors suggested that hydroxyprolinemia, like cystathioninuria, is a 'non-disease.' ...