MCID: HYP111
MIFTS: 35

Hyperprolinemia

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

Aliases & Classifications for Hyperprolinemia

MalaCards integrated aliases for Hyperprolinemia:

Name: Hyperprolinemia 54 26 38 30 56 6 74
Proline Oxidase Deficiency 54 26
Pyrroline-5-Carboxylate Dehydrogenase Deficiency 26
Pyrroline Carboxylate Dehydrogenase Deficiency 26
Proline Dehydrogenase Deficiency 74
Proline Hydrogenase Deficiency 54
Hyperprolinemia Type 1 54
Hyperprolinemia Type 2 74
Prolinemia 26

Classifications:



External Ids:

KEGG 38 H00190

Summaries for Hyperprolinemia

NIH Rare Diseases : 54 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.

MalaCards based summary : Hyperprolinemia, also known as proline oxidase deficiency, is related to schizoaffective disorder and hyperprolinemia, type ii, 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, skin and brain.

Genetics Home Reference : 26 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 : 77 Hyperprolinemia is a condition which occurs when the amino acid proline is not broken down properly by... 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 21)
# Related Disease Score Top Affiliating Genes
1 schizoaffective disorder 29.6 COMT PRODH
2 hyperprolinemia, type ii 12.7
3 hyperprolinemia, type i 12.6
4 schizophrenia 10.2
5 schizophrenia 4 10.1
6 aniridia 1 10.0
7 dicarboxylic aminoaciduria 10.0
8 multiple acyl-coa dehydrogenase deficiency 10.0
9 hydroxyprolinemia 10.0
10 alcoholic liver cirrhosis 10.0
11 liver cirrhosis 10.0
12 liver disease 10.0
13 thalassemia 10.0
14 epilepsy 10.0
15 aminoaciduria 10.0
16 childhood-onset schizophrenia 10.0
17 chromosomal deletion syndrome 9.8 COMT PRODH
18 velocardiofacial syndrome 9.7 COMT PRODH
19 psychotic disorder 9.7 COMT PRODH
20 digeorge syndrome 9.6 COMT PRODH
21 bipolar disorder 9.5 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

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 30

Anatomical Context for Hyperprolinemia

MalaCards organs/tissues related to Hyperprolinemia:

42
Liver, Skin, Brain, Testes

Publications for Hyperprolinemia

Articles related to Hyperprolinemia:

(show top 50) (show all 56)
# 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 clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. ( 24173411 )
2014
4
Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association. ( 24787057 )
2014
5
Long-term neuropsychiatric follow-up in hyperprolinemia type I. ( 24842239 )
2014
6
Biochemical and clinical features of hereditary hyperprolinemia. ( 24931297 )
2014
7
Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: antioxidant protection. ( 24980685 )
2014
8
Identification of PRODH mutations in Korean neonates with type I hyperprolinemia. ( 23462603 )
2013
9
Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver. ( 21882227 )
2012
10
Evidence that hyperprolinemia alters glutamatergic homeostasis in rat brain: neuroprotector effect of guanosine. ( 21935728 )
2012
11
The three-dimensional structural basis of type II hyperprolinemia. ( 22516612 )
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
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
Hyperprolinemia is a risk factor for schizoaffective disorder. ( 15494707 )
2005
21
Effect of hyperprolinemia on acetylcholinesterase and butyrylcholinesterase activities in rat. ( 15789140 )
2005
22
Chronic hyperprolinemia provokes a memory deficit in the Morris water maze task. ( 15918552 )
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 I hyperprolinemia: a study of the intestinal absorption of proline, hydroxyproline, and glycine. ( 934727 )
1976
37
Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. ( 956388 )
1976
38
Type I hyperprolinemia in a family suffering from aniridia and severe dystrophia of ocular tissues. ( 958671 )
1976
39
Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia. ( 4810805 )
1974
40
Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. ( 4369405 )
1974
41
Increased taurine excretion in hereditary hyperprolinemia of the mouse. ( 4823641 )
1974
42
Hyperprolinemia type II. ( 4825691 )
1974
43
Defective hydroxyproline metabolism in type II hyperprolinemia. ( 4851275 )
1974
44
Hyperprolinemia. I. Study of a large family. ( 4729989 )
1973
45
Familial hyperprolinemia without mental retardation and hereditary nephropathy. ( 4663888 )
1972
46
Hyperprolinemia and prolinuria in a new inbred strain of mice, PRO-Re. ( 5031477 )
1972
47
Pure familial hyperprolinemia: isolated inborn error of aminoacid metabolism without other anomalies in a Sicilian family. ( 5560617 )
1971
48
Hyperprolinemia: clinical and biochemical family study. ( 5346634 )
1969
49
Dietary reduction of hyperprolinemia. ( 5779265 )
1969
50
Familial hyperprolinemia and mental retardation. A second metabolic type. ( 5815222 )
1969

Variations for Hyperprolinemia

ClinVar genetic disease variations for Hyperprolinemia:

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH4A1 NM_003748.3(ALDH4A1): c.*1239G> C single nucleotide variant Likely benign rs1138328 GRCh37 Chromosome 1, 19198100: 19198100
2 ALDH4A1 NM_003748.3(ALDH4A1): c.*1239G> C single nucleotide variant Likely benign rs1138328 GRCh38 Chromosome 1, 18871606: 18871606
3 ALDH4A1 NM_003748.3(ALDH4A1): c.*921G> A single nucleotide variant Likely benign rs1138269 GRCh38 Chromosome 1, 18871924: 18871924
4 ALDH4A1 NM_003748.3(ALDH4A1): c.*921G> A single nucleotide variant Likely benign rs1138269 GRCh37 Chromosome 1, 19198418: 19198418
5 ALDH4A1 NM_003748.3(ALDH4A1): c.*1199A> C single nucleotide variant Uncertain significance rs886045701 GRCh37 Chromosome 1, 19198140: 19198140
6 ALDH4A1 NM_003748.3(ALDH4A1): c.*1199A> C single nucleotide variant Uncertain significance rs886045701 GRCh38 Chromosome 1, 18871646: 18871646
7 ALDH4A1 NM_003748.3(ALDH4A1): c.*1173C> T single nucleotide variant Uncertain significance rs115664776 GRCh38 Chromosome 1, 18871672: 18871672
8 ALDH4A1 NM_003748.3(ALDH4A1): c.*1173C> T single nucleotide variant Uncertain significance rs115664776 GRCh37 Chromosome 1, 19198166: 19198166
9 ALDH4A1 NM_003748.3(ALDH4A1): c.*763T> C single nucleotide variant Likely benign rs1138267 GRCh38 Chromosome 1, 18872082: 18872082
10 ALDH4A1 NM_003748.3(ALDH4A1): c.*763T> C single nucleotide variant Likely benign rs1138267 GRCh37 Chromosome 1, 19198576: 19198576
11 ALDH4A1 NM_003748.3(ALDH4A1): c.*925C> T single nucleotide variant Likely benign rs1140477 GRCh38 Chromosome 1, 18871920: 18871920
12 ALDH4A1 NM_003748.3(ALDH4A1): c.*925C> T single nucleotide variant Likely benign rs1140477 GRCh37 Chromosome 1, 19198414: 19198414
13 ALDH4A1 NM_003748.3(ALDH4A1): c.*464G> A single nucleotide variant Uncertain significance rs536186688 GRCh38 Chromosome 1, 18872381: 18872381
14 ALDH4A1 NM_003748.3(ALDH4A1): c.*464G> A single nucleotide variant Uncertain significance rs536186688 GRCh37 Chromosome 1, 19198875: 19198875
15 ALDH4A1 NM_003748.3(ALDH4A1): c.*122T> C single nucleotide variant Uncertain significance rs2230712 GRCh38 Chromosome 1, 18872723: 18872723
16 ALDH4A1 NM_003748.3(ALDH4A1): c.*122T> C single nucleotide variant Uncertain significance rs2230712 GRCh37 Chromosome 1, 19199217: 19199217
17 ALDH4A1 NM_003748.3(ALDH4A1): c.*690G> A single nucleotide variant Uncertain significance rs886045704 GRCh38 Chromosome 1, 18872155: 18872155
18 ALDH4A1 NM_003748.3(ALDH4A1): c.*690G> A single nucleotide variant Uncertain significance rs886045704 GRCh37 Chromosome 1, 19198649: 19198649
19 ALDH4A1 NM_003748.3(ALDH4A1): c.*646G> A single nucleotide variant Uncertain significance rs567528405 GRCh38 Chromosome 1, 18872199: 18872199
20 ALDH4A1 NM_003748.3(ALDH4A1): c.*646G> A single nucleotide variant Uncertain significance rs567528405 GRCh37 Chromosome 1, 19198693: 19198693
21 ALDH4A1 NM_003748.3(ALDH4A1): c.*502A> G single nucleotide variant Likely benign rs1802783 GRCh38 Chromosome 1, 18872343: 18872343
22 ALDH4A1 NM_003748.3(ALDH4A1): c.*502A> G single nucleotide variant Likely benign rs1802783 GRCh37 Chromosome 1, 19198837: 19198837
23 ALDH4A1 NM_003748.3(ALDH4A1): c.*272C> T single nucleotide variant Uncertain significance rs41273171 GRCh38 Chromosome 1, 18872573: 18872573
24 ALDH4A1 NM_003748.3(ALDH4A1): c.*272C> T single nucleotide variant Uncertain significance rs41273171 GRCh37 Chromosome 1, 19199067: 19199067
25 ALDH4A1 NM_003748.3(ALDH4A1): c.*12delG deletion Uncertain significance rs774289867 GRCh38 Chromosome 1, 18872833: 18872833
26 ALDH4A1 NM_003748.3(ALDH4A1): c.*12delG deletion Uncertain significance rs774289867 GRCh37 Chromosome 1, 19199327: 19199327
27 ALDH4A1 NM_003748.3(ALDH4A1): c.*223G> A single nucleotide variant Uncertain significance rs553318512 GRCh38 Chromosome 1, 18872622: 18872622
28 ALDH4A1 NM_003748.3(ALDH4A1): c.*223G> A single nucleotide variant Uncertain significance rs553318512 GRCh37 Chromosome 1, 19199116: 19199116
29 ALDH4A1 NM_003748.3(ALDH4A1): c.*210C> A single nucleotide variant Uncertain significance rs886045705 GRCh38 Chromosome 1, 18872635: 18872635
30 ALDH4A1 NM_003748.3(ALDH4A1): c.*210C> A single nucleotide variant Uncertain significance rs886045705 GRCh37 Chromosome 1, 19199129: 19199129
31 ALDH4A1 NM_003748.3(ALDH4A1): c.*35C> T single nucleotide variant Uncertain significance rs2230710 GRCh38 Chromosome 1, 18872810: 18872810
32 ALDH4A1 NM_003748.3(ALDH4A1): c.*35C> T single nucleotide variant Uncertain significance rs2230710 GRCh37 Chromosome 1, 19199304: 19199304
33 ALDH4A1 NM_003748.3(ALDH4A1): c.1631C> T (p.Pro544Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72953172 GRCh37 Chromosome 1, 19199400: 19199400
34 ALDH4A1 NM_003748.3(ALDH4A1): c.1631C> T (p.Pro544Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72953172 GRCh38 Chromosome 1, 18872906: 18872906
35 ALDH4A1 NM_003748.3(ALDH4A1): c.1381G> A (p.Asp461Asn) single nucleotide variant Uncertain significance rs377270740 GRCh37 Chromosome 1, 19201955: 19201955
36 ALDH4A1 NM_003748.3(ALDH4A1): c.1381G> A (p.Asp461Asn) single nucleotide variant Uncertain significance rs377270740 GRCh38 Chromosome 1, 18875461: 18875461
37 ALDH4A1 NM_003748.3(ALDH4A1): c.1252G> C (p.Gly418Arg) single nucleotide variant Uncertain significance rs148586081 GRCh37 Chromosome 1, 19202895: 19202895
38 ALDH4A1 NM_003748.3(ALDH4A1): c.1252G> C (p.Gly418Arg) single nucleotide variant Uncertain significance rs148586081 GRCh38 Chromosome 1, 18876401: 18876401
39 ALDH4A1 NM_003748.3(ALDH4A1): c.1681T> A (p.Tyr561Asn) single nucleotide variant Uncertain significance rs528211463 GRCh37 Chromosome 1, 19199350: 19199350
40 ALDH4A1 NM_003748.3(ALDH4A1): c.1681T> A (p.Tyr561Asn) single nucleotide variant Uncertain significance rs528211463 GRCh38 Chromosome 1, 18872856: 18872856
41 ALDH4A1 NM_003748.3(ALDH4A1): c.1221A> G (p.Ala407=) single nucleotide variant Benign rs2230706 GRCh37 Chromosome 1, 19202926: 19202926
42 ALDH4A1 NM_003748.3(ALDH4A1): c.1221A> G (p.Ala407=) single nucleotide variant Benign rs2230706 GRCh38 Chromosome 1, 18876432: 18876432
43 ALDH4A1 NM_003748.3(ALDH4A1): c.1082G> C (p.Trp361Ser) single nucleotide variant Uncertain significance rs763793413 GRCh37 Chromosome 1, 19203965: 19203965
44 ALDH4A1 NM_003748.3(ALDH4A1): c.1082G> C (p.Trp361Ser) single nucleotide variant Uncertain significance rs763793413 GRCh38 Chromosome 1, 18877471: 18877471
45 ALDH4A1 NM_003748.3(ALDH4A1): c.1377G> C (p.Pro459=) single nucleotide variant Uncertain significance rs146222625 GRCh37 Chromosome 1, 19201959: 19201959
46 ALDH4A1 NM_003748.3(ALDH4A1): c.1377G> C (p.Pro459=) single nucleotide variant Uncertain significance rs146222625 GRCh38 Chromosome 1, 18875465: 18875465
47 ALDH4A1 NM_003748.3(ALDH4A1): c.1230A> G (p.Ser410=) single nucleotide variant Benign rs7550938 GRCh37 Chromosome 1, 19202917: 19202917
48 ALDH4A1 NM_003748.3(ALDH4A1): c.1230A> G (p.Ser410=) single nucleotide variant Benign rs7550938 GRCh38 Chromosome 1, 18876423: 18876423
49 ALDH4A1 NM_003748.3(ALDH4A1): c.1050G> C (p.Ala350=) single nucleotide variant Benign rs2230705 GRCh38 Chromosome 1, 18877503: 18877503
50 ALDH4A1 NM_003748.3(ALDH4A1): c.1050G> C (p.Ala350=) single nucleotide variant Benign rs2230705 GRCh37 Chromosome 1, 19203997: 19203997

Expression for Hyperprolinemia

Search GEO for disease gene expression data for Hyperprolinemia.

Pathways for Hyperprolinemia

Pathways related to Hyperprolinemia according to KEGG:

38
# Name Kegg Source Accession
1 Arginine and proline metabolism hsa00330

GO Terms for Hyperprolinemia

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 catabolic process to glutamate GO:0010133 8.96 ALDH4A1 PRODH
4 proline metabolic process GO:0006560 8.62 ALDH4A1 PRODH

Sources for Hyperprolinemia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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