MCID: HYP111
MIFTS: 33

Hyperprolinemia

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

Aliases & Classifications for Hyperprolinemia

MalaCards integrated aliases for Hyperprolinemia:

Name: Hyperprolinemia 50 25 29 52 69
Proline Oxidase Deficiency 50 25
Pyrroline-5-Carboxylate Dehydrogenase Deficiency 25
Pyrroline Carboxylate Dehydrogenase Deficiency 25
Proline Dehydrogenase Deficiency 69
Proline Hydrogenase Deficiency 50
Hyperprolinemia Type 1 50
Hyperprolinemia Type 2 69
Prolinemia 25

Classifications:



Summaries for Hyperprolinemia

NIH Rare Diseases : 50 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 hyperprolinemia, type ii and hyperprolinemia, type i, and has symptoms including seizures An important gene associated with Hyperprolinemia is PRODH (Proline Dehydrogenase 1), and among its related pathways/superpathways are Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism and Arginine and proline metabolism. Affiliated tissues include liver, testes and skin, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Genetics Home Reference : 25 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

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:

26
id 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 PRODH COMT
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:


id 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:

id Genetic test Affiliating Genes
1 Hyperprolinemia 29

Anatomical Context for Hyperprolinemia

MalaCards organs/tissues related to Hyperprolinemia:

39
Liver, Testes, Skin, Brain

Publications for Hyperprolinemia

Articles related to Hyperprolinemia:

(show top 50) (show all 54)
id 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
Long-term neuropsychiatric follow-up in hyperprolinemia type I. ( 24842239 )
2014
4
Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association. ( 24787057 )
2014
5
Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: antioxidant protection. ( 24980685 )
2014
6
Biochemical and clinical features of hereditary hyperprolinemia. ( 24931297 )
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
Evidence that hyperprolinemia alters glutamatergic homeostasis in rat brain: neuroprotector effect of guanosine. ( 21935728 )
2012
10
The three-dimensional structural basis of type II hyperprolinemia. ( 22516612 )
2012
11
Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver. ( 21882227 )
2012
12
Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome. ( 21645996 )
2011
13
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
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
Hyperprolinemia is not associated with childhood onset schizophrenia. ( 16389584 )
2006
19
alpha-Tocopherol and ascorbic acid prevent memory deficits provoked by chronic hyperprolinemia in rats. ( 16214240 )
2006
20
Chronic hyperprolinemia provokes a memory deficit in the Morris water maze task. ( 15918552 )
2005
21
Effect of hyperprolinemia on acetylcholinesterase and butyrylcholinesterase activities in rat. ( 15789140 )
2005
22
Hyperprolinemia is a risk factor for schizoaffective disorder. ( 15494707 )
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
Hyperprolinemia and lactatemia in alcoholic liver disease: relationships to abstinence and histological findings. ( 2312066 )
1990
30
High urinary excretion of N-(pyrrole-2-carboxyl) glycine in type II hyperprolinemia. ( 2383933 )
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
Defective hydroxyproline metabolism in type II hyperprolinemia. ( 4851275 )
1974
39
Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia. ( 4810805 )
1974
40
Hyperprolinemia type II. ( 4825691 )
1974
41
Increased taurine excretion in hereditary hyperprolinemia of the mouse. ( 4823641 )
1974
42
Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. ( 4369405 )
1974
43
Hyperprolinemia. I. Study of a large family. ( 4729989 )
1973
44
Familial hyperprolinemia without mental retardation and hereditary nephropathy. ( 4663888 )
1972
45
Hyperprolinemia and prolinuria in a new inbred strain of mice, PRO-Re. ( 5031477 )
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
Treatment of hydroxyprolinemia and hyperprolinemia. ( 6015897 )
1967

Variations for Hyperprolinemia

Expression for Hyperprolinemia

Search GEO for disease gene expression data for Hyperprolinemia.

Pathways for Hyperprolinemia

GO Terms for Hyperprolinemia

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

id 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:

id 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

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