MCID: HYP111
MIFTS: 36

Hyperprolinemia

Categories: Rare diseases, Metabolic diseases, Neuronal diseases, Genetic diseases

Aliases & Classifications for Hyperprolinemia

MalaCards integrated aliases for Hyperprolinemia:

Name: Hyperprolinemia 49 24 36 28 51 69
Proline Oxidase Deficiency 49 24
Pyrroline-5-Carboxylate Dehydrogenase Deficiency 24
Pyrroline Carboxylate Dehydrogenase Deficiency 24
Proline Dehydrogenase Deficiency 69
Proline Hydrogenase Deficiency 49
Hyperprolinemia Type 1 49
Hyperprolinemia Type 2 69
Prolinemia 24

Classifications:



External Ids:

KEGG 36 H00190

Summaries for Hyperprolinemia

NIH Rare Diseases : 49 Hyperprolinemia is when there is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms: hyperprolinemia type 1 and hyperprolinemia type 2. People with hyperprolinemia type I often do not show any symptoms, although they have proline levels in their blood between 3 and 10 times the normal level. Less commonly, affected individuals can experience seizures, intellectual disability, or other neurological or psychiatric problems. Hyperprolinemia is caused by mutations in the PRODH gene and is inherited in an autosomal recessive pattern. Last updated: 8/23/2011

MalaCards based summary : Hyperprolinemia, also known as proline oxidase deficiency, is related to childhood-onset schizophrenia and schizoaffective disorder, and has symptoms including seizures An important gene associated with Hyperprolinemia is PRODH (Proline Dehydrogenase 1), and among its related pathways/superpathways are Arginine and proline metabolism and Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism. Affiliated tissues include liver, testes and skin, and related phenotypes are Decreased shRNA abundance (Z-score < -2) and Decreased shRNA abundance (Z-score < -2)

Genetics Home Reference : 24 Hyperprolinemia is an excess of a particular protein building block (amino acid), called proline, in the blood. This condition generally occurs when proline is not broken down properly by the body. There are two inherited forms of hyperprolinemia, called type I and type II.

Wikipedia : 72 Hyperprolinemia, also referred to as prolinemia or prolinuria, is a condition which occurs when the... more...

Related Diseases for Hyperprolinemia

Diseases in the Hyperprolinemia family:

Hyperprolinemia, Type I Hyperprolinemia, Type Ii

Diseases related to Hyperprolinemia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 19)
# Related Disease Score Top Affiliating Genes
1 childhood-onset schizophrenia 29.2 COMT PRODH
2 schizoaffective disorder 29.1 COMT PRODH
3 hyperprolinemia, type ii 12.5
4 hyperprolinemia, type i 12.4
5 blood group, i system 10.1
6 schizophrenia 10.0
7 liver disease 9.8
8 thalassemia 9.8
9 epilepsy 9.8
10 cerebritis 9.8
11 aminoaciduria 9.8
12 dicarboxylic aminoaciduria 9.8
13 hydroxyprolinemia 9.8
14 branchiootic syndrome 1 9.8
15 alcoholic liver cirrhosis 9.8
16 liver cirrhosis 9.8
17 psychotic disorder 9.6 COMT PRODH
18 velocardiofacial syndrome 9.5 COMT PRODH
19 bipolar disorder 9.4 COMT PRODH

Graphical network of the top 20 diseases related to Hyperprolinemia:



Diseases related to Hyperprolinemia

Symptoms & Phenotypes for Hyperprolinemia

UMLS symptoms related to Hyperprolinemia:


seizures

GenomeRNAi Phenotypes related to Hyperprolinemia according to GeneCards Suite gene sharing:

25 (show all 14)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.5 PRODH
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.5 PRODH
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-195 9.5 COMT
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.5 PRODH
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-211 9.5 COMT
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.5 COMT
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-33 9.5 COMT PRODH
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 9.5 COMT
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.5 PRODH
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-58 9.5 PRODH
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-66 9.5 PRODH
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.5 COMT
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.5 PRODH
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.5 COMT

Drugs & Therapeutics for Hyperprolinemia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Targeted Vitamin D Treatment of Schizophrenia-Associated Hyperprolinemia Withdrawn NCT02197286 Phase 2 Cholecalciferol;Placebo

Search NIH Clinical Center for Hyperprolinemia

Genetic Tests for Hyperprolinemia

Genetic tests related to Hyperprolinemia:

# Genetic test Affiliating Genes
1 Hyperprolinemia 28

Anatomical Context for Hyperprolinemia

MalaCards organs/tissues related to Hyperprolinemia:

38
Liver, Testes, Skin, Brain

Publications for Hyperprolinemia

Articles related to Hyperprolinemia:

(show top 50) (show all 54)
# Title Authors Year
1
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations. ( 28202261 )
2017
2
Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. ( 26409463 )
2016
3
Biochemical and clinical features of hereditary hyperprolinemia. ( 24931297 )
2014
4
Long-term neuropsychiatric follow-up in hyperprolinemia type I. ( 24842239 )
2014
5
Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: antioxidant protection. ( 24980685 )
2014
6
Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association. ( 24787057 )
2014
7
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. ( 24173411 )
2013
8
Identification of PRODH mutations in Korean neonates with type I hyperprolinemia. ( 23462603 )
2013
9
The three-dimensional structural basis of type II hyperprolinemia. ( 22516612 )
2012
10
Evidence that hyperprolinemia alters glutamatergic homeostasis in rat brain: neuroprotector effect of guanosine. ( 21935728 )
2012
11
Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver. ( 21882227 )
2012
12
Drosophila delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDh) is required for proline breakdown and mitochondrial integrity-Establishing a fly model for human type II hyperprolinemia. ( 21168532 )
2011
13
Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome. ( 21645996 )
2011
14
Physical exercise reverses cognitive impairment in rats subjected to experimental hyperprolinemia. ( 21792675 )
2011
15
Type I hyperprolinemia: genotype/phenotype correlations. ( 20524212 )
2010
16
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation. ( 18197084 )
2008
17
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. ( 17135275 )
2007
18
alpha-Tocopherol and ascorbic acid prevent memory deficits provoked by chronic hyperprolinemia in rats. ( 16214240 )
2006
19
Hyperprolinemia is not associated with childhood onset schizophrenia. ( 16389584 )
2006
20
Chronic hyperprolinemia provokes a memory deficit in the Morris water maze task. ( 15918552 )
2005
21
Hyperprolinemia is a risk factor for schizoaffective disorder. ( 15494707 )
2005
22
Effect of hyperprolinemia on acetylcholinesterase and butyrylcholinesterase activities in rat. ( 15789140 )
2005
23
Type II hyperprolinemia: a case report. ( 15214748 )
2004
24
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. ( 12217952 )
2002
25
Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. ( 11134058 )
2001
26
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. ( 11510941 )
2001
27
Type I hyperprolinemia. ( 10957843 )
2000
28
Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. ( 9700195 )
1998
29
High urinary excretion of N-(pyrrole-2-carboxyl) glycine in type II hyperprolinemia. ( 2383933 )
1990
30
Hyperprolinemia and lactatemia in alcoholic liver disease: relationships to abstinence and histological findings. ( 2312066 )
1990
31
Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality. ( 3617056 )
1987
32
Frequency of hyperprolinemia in alcoholic liver cirrhosis: relationship to blood lactate. ( 6706303 )
1984
33
Hyperprolinemia type II: evidence of the excretion of 3-hydroxy delta 1-pyrroline 5-carboxylic acid. ( 445797 )
1979
34
Non-chromatographic screening test for hyperprolinemia. ( 719867 )
1978
35
Hyperprolinemia type II: identification of the glycine conjugate of pyrrole-2-carboxylic acid in urine. ( 837521 )
1977
36
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. ( 956388 )
1976
37
Type I hyperprolinemia: a study of the intestinal absorption of proline, hydroxyproline, and glycine. ( 934727 )
1976
38
Increased taurine excretion in hereditary hyperprolinemia of the mouse. ( 4823641 )
1974
39
Defective hydroxyproline metabolism in type II hyperprolinemia. ( 4851275 )
1974
40
Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. ( 4369405 )
1974
41
Hyperprolinemia type II. ( 4825691 )
1974
42
Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia. ( 4810805 )
1974
43
Hyperprolinemia. I. Study of a large family. ( 4729989 )
1973
44
Hyperprolinemia and prolinuria in a new inbred strain of mice, PRO-Re. ( 5031477 )
1972
45
Familial hyperprolinemia without mental retardation and hereditary nephropathy. ( 4663888 )
1972
46
Familial hyperprolinemia and mental retardation. A second metabolic type. ( 5815222 )
1969
47
Dietary reduction of hyperprolinemia. ( 5779265 )
1969
48
Hyperprolinemia: clinical and biochemical family study. ( 5346634 )
1969
49
Hyperprolinemia and hyperprolinuria in thalassemia. ( 5667426 )
1968
50
Hyperprolinemia without renal disease. ( 5587686 )
1967

Variations for Hyperprolinemia

Expression for Hyperprolinemia

Search GEO for disease gene expression data for Hyperprolinemia.

Pathways for Hyperprolinemia

Pathways related to Hyperprolinemia according to KEGG:

36
# Name Kegg Source Accession
1 Arginine and proline metabolism hsa00330

GO Terms for Hyperprolinemia

Cellular components related to Hyperprolinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrial matrix GO:0005759 8.96 ALDH4A1 PRODH
2 mitochondrion GO:0005739 8.8 ALDH4A1 COMT PRODH

Biological processes related to Hyperprolinemia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 4-hydroxyproline catabolic process GO:0019470 9.26 ALDH4A1 PRODH
2 proline catabolic process GO:0006562 9.16 ALDH4A1 PRODH
3 proline metabolic process GO:0006560 8.96 ALDH4A1 PRODH
4 proline catabolic process to glutamate GO:0010133 8.62 ALDH4A1 PRODH

Sources for Hyperprolinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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