Hyperprolinemia type 1

General Information (adopted from Orphanet):

Synonyms, Signs: HPI
proline oxidase deficiency
Number of Symptoms 28
OrphanetNr: 419
OMIM Id: 239500
ICD-10: E72.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Amino acid or protein metabolism disease with epilepsy
 -Rare neurologic disease
Disorder of proline metabolism
 -Rare genetic disease
Neurometabolic disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000093) Proteinuria Frequent [Orphanet] 169 / 7739
2
 (HPO:0000112) Nephropathy Frequent [Orphanet] 92 / 7739
3
 (HPO:0003080) Hydroxyprolinuria 7 / 7739
4
 (HPO:0003137) Prolinuria 4 / 7739
5
 (HPO:0003108) Hyperglycinuria 11 / 7739
6
 (HPO:0003355) Aminoaciduria 65 / 7739
7
 (HPO:0000733) Stereotypy 58 / 7739
8
 (HPO:0000752) Hyperactivity 140 / 7739
9
 (HPO:0000718) Aggressive behavior 109 / 7739
10
 (HPO:0001263) Global developmental delay 853 / 7739
11
 (HPO:0002133) Status epilepticus 59 / 7739
12
 (HPO:0001250) Seizures Occasional [Orphanet] 1245 / 7739
13
 (HPO:0002353) EEG abnormality 188 / 7739
14
 (HPO:0001249) Intellectual disability 1089 / 7739
15
 (HPO:0008358) Hyperprolinemia 5 / 7739
16
 (HPO:0004337) Abnormality of amino acid metabolism Frequent [Orphanet] 45 / 7739
17
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
18
 (HPO:0001324) Muscle weakness 859 / 7739
19
 (HPO:0010547) Muscle flaccidity 466 / 7739
20
 (HPO:0001252) Muscular hypotonia 990 / 7739
21
 (OMIM) [DEL]Autistic features 43 / 7739
22
 (OMIM) Mental retardation, mild to severe 14 / 7739
23
 (OMIM) Renal abnormalities (in some patients) 1 / 7739
24
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
25
 (OMIM) Photogenic epilepsy 1 / 7739
26
 (OMIM) Proline oxidase deficiency 1 / 7739
27
 (OMIM) Increased susceptibility to schizophrenia 1 / 7739
28
 (HPO:0003812) Phenotypic variability 129 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Phang et al. (2001) noted that prospective studies of HPI probands identified through newborn screening as well as reports of several families have suggested that it is a metabolic disorder not clearly associated with clinical manifestations. Phang et ...
Clinical Description OMIM Scriver et al. (1961) and Schafer et al. (1962) described a Scottish-Irish family in which the male proband and 3 sibs had elevated plasma and urinary proline. There was also increased urinary hydroxyproline and glycine, presumably because these ...
Molecular genetics OMIM In a patient with type I hyperprolinemia and neurologic manifestations reported by Humbertclaude et al. (2001), Jacquet et al. (2002) identified a homozygous mutation in the PRODH gene (L441P; 606810.0004). He was also heterozygous for another PRODH mutation ...