HYRPRO1
MCID: HYP248
MIFTS: 29

Hyperprolinemia, Type I (HYRPRO1)

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

Aliases & Classifications for Hyperprolinemia, Type I

MalaCards integrated aliases for Hyperprolinemia, Type I:

Name: Hyperprolinemia, Type I 58 13 56
Proline Oxidase Deficiency 58 60 76
Hyrpro1 58 76
Hpi 58 76
Proline Dehydrogenase Deficiency 74
Hyperprolinemia Type 1 60
Hyperprolinemia Type I 76
Hyperprolinemia 1 76

Characteristics:

Orphanet epidemiological data:

60
hyperprolinemia type 1
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
some patients have no manifestations
some patients have a severe phenotype with neurologic manifestations beginning at birth


HPO:

33
hyperprolinemia, type i:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperprolinemia, Type I

OMIM : 58 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 al. (2001) concluded that HPI is a relatively benign condition in most individuals under most circumstances. However, other reports have suggested that some patients have a severe phenotype with neurologic manifestations, including epilepsy and mental retardation (Jacquet et al., 2003). (239500)

MalaCards based summary : Hyperprolinemia, Type I, also known as proline oxidase deficiency, is related to hyperprolinemia and hydroxyprolinemia, and has symptoms including seizures An important gene associated with Hyperprolinemia, Type I is PRODH (Proline Dehydrogenase 1). Affiliated tissues include breast, and related phenotypes are proteinuria and nephropathy

UniProtKB/Swiss-Prot : 76 Hyperprolinemia 1: An inborn error of proline metabolism resulting in elevated levels of proline in the plasma and urine. The disorder is generally benign and most affected individuals are clinically asymptomatic. Some patients, however, have neurologic manifestations, including epilepsy and mental retardation. Association with certain forms of schizophrenia have been reported.

Related Diseases for Hyperprolinemia, Type I

Diseases in the Hyperprolinemia family:

Hyperprolinemia, Type I Hyperprolinemia, Type Ii

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

# Related Disease Score Top Affiliating Genes
1 hyperprolinemia 11.6
2 hydroxyprolinemia 11.6
3 breast cancer 10.1
4 papillomatosis, confluent and reticulated 10.1
5 schizophrenia 10.1
6 schizophrenia 1 10.1
7 androgen insensitivity, partial 10.1
8 chronic pneumonitis of infancy 10.1
9 schizophrenia 4 10.0

Graphical network of the top 20 diseases related to Hyperprolinemia, Type I:



Diseases related to Hyperprolinemia, Type I

Symptoms & Phenotypes for Hyperprolinemia, Type I

Human phenotypes related to Hyperprolinemia, Type I:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 60 33 frequent (33%) Frequent (79-30%) HP:0000093
2 nephropathy 60 33 frequent (33%) Frequent (79-30%) HP:0000112
3 prolinuria 60 33 frequent (33%) Frequent (79-30%) HP:0003137
4 hyperprolinemia 60 33 very rare (1%) Frequent (79-30%) HP:0008358
5 seizures 60 33 very rare (1%) Occasional (29-5%) HP:0001250
6 schizophrenia 60 33 occasional (7.5%) Occasional (29-5%) HP:0100753
7 ataxia 33 very rare (1%) HP:0001251
8 global developmental delay 33 very rare (1%) HP:0001263
9 delayed speech and language development 33 very rare (1%) HP:0000750
10 autistic behavior 33 very rare (1%) HP:0000729
11 hyperglycinuria 33 very rare (1%) HP:0003108
12 intellectual disability 33 HP:0001249
13 muscular hypotonia 33 HP:0001252
14 eeg abnormality 33 HP:0002353
15 stereotypy 33 HP:0000733
16 aggressive behavior 33 HP:0000718
17 status epilepticus 33 HP:0002133
18 generalized hypotonia 33 HP:0001290
19 hyperactivity 33 HP:0000752
20 hydroxyprolinuria 33 HP:0003080

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
status epilepticus
hypotonia
delayed psychomotor development
abnormal eeg
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
stereotyped behavior
aggression
increased susceptibility to schizophrenia

Laboratory Abnormalities:
aminoaciduria
prolinuria
hyperprolinemia (5-10 times normal)
hydroxyprolinuria
glycinuria
more
Genitourinary Kidneys:
renal abnormalities (in some patients)

Clinical features from OMIM:

239500

UMLS symptoms related to Hyperprolinemia, Type I:


seizures

Drugs & Therapeutics for Hyperprolinemia, Type I

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, Type I

Genetic Tests for Hyperprolinemia, Type I

Anatomical Context for Hyperprolinemia, Type I

MalaCards organs/tissues related to Hyperprolinemia, Type I:

42
Breast

Publications for Hyperprolinemia, Type I

Articles related to Hyperprolinemia, Type I:

# Title Authors Year
1
Long-term neuropsychiatric follow-up in hyperprolinemia type I. ( 24842239 )
2014
2
Early neurological phenotype in 4 children with biallelic PRODH mutations. ( 17412540 )
2007
3
Functional consequences of PRODH missense mutations. ( 15662599 )
2005
4
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. ( 12217952 )
2002
5
Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. ( 11891283 )
2002
6
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. ( 11510941 )
2001

Variations for Hyperprolinemia, Type I

UniProtKB/Swiss-Prot genetic disease variations for Hyperprolinemia, Type I:

76
# Symbol AA change Variation ID SNP ID
1 PRODH p.Leu289Met VAR_029566
2 PRODH p.Asp426Asn VAR_029568
3 PRODH p.Val427Met VAR_029569 rs2238731
4 PRODH p.Arg431His VAR_029570 rs2904552
5 PRODH p.Leu441Pro VAR_029571 rs2904551
6 PRODH p.Arg453Cys VAR_029572 rs3970559
7 PRODH p.Ala455Ser VAR_029573 rs1807467
8 PRODH p.Ala472Thr VAR_029575 rs2870983
9 PRODH p.Gln521Arg VAR_029577 rs450046

ClinVar genetic disease variations for Hyperprolinemia, Type I:

6 (show top 50) (show all 58)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRODH NC_000022.11: g.(?_18906222)_(18936553_?)del deletion Pathogenic,risk factor GRCh37 Chromosome 22, 18893735: 18924066
2 PRODH NC_000022.11: g.(?_18906222)_(18936553_?)del deletion Pathogenic,risk factor GRCh38 Chromosome 22, 18906222: 18936553
3 PRODH NM_016335.4(PRODH): c.1357C> T (p.Arg453Cys) single nucleotide variant risk factor rs3970559 GRCh37 Chromosome 22, 18905899: 18905899
4 PRODH NM_016335.4(PRODH): c.1357C> T (p.Arg453Cys) single nucleotide variant risk factor rs3970559 GRCh38 Chromosome 22, 18918386: 18918386
5 PRODH NM_016335.4(PRODH): c.865T> A (p.Leu289Met) single nucleotide variant Uncertain significance rs137852934 GRCh37 Chromosome 22, 18909902: 18909902
6 PRODH NM_016335.4(PRODH): c.865T> A (p.Leu289Met) single nucleotide variant Uncertain significance rs137852934 GRCh38 Chromosome 22, 18922389: 18922389
7 PRODH NM_016335.4(PRODH): c.1322T> C (p.Leu441Pro) single nucleotide variant risk factor rs2904551 GRCh37 Chromosome 22, 18905934: 18905934
8 PRODH NM_016335.4(PRODH): c.1322T> C (p.Leu441Pro) single nucleotide variant risk factor rs2904551 GRCh38 Chromosome 22, 18918421: 18918421
9 PRODH NM_016335.4(PRODH): c.1363G> T (p.Ala455Ser) single nucleotide variant Pathogenic,risk factor rs1807467 GRCh37 Chromosome 22, 18905893: 18905893
10 PRODH NM_016335.4(PRODH): c.1363G> T (p.Ala455Ser) single nucleotide variant Pathogenic,risk factor rs1807467 GRCh38 Chromosome 22, 18918380: 18918380
11 PRODH NM_016335.4(PRODH): c.1562A> G (p.Gln521Arg) single nucleotide variant Benign rs450046 GRCh37 Chromosome 22, 18901004: 18901004
12 PRODH NM_016335.4(PRODH): c.1562A> G (p.Gln521Arg) single nucleotide variant Benign rs450046 GRCh38 Chromosome 22, 18913491: 18913491
13 PRODH NM_016335.4(PRODH): c.1292G> A (p.Arg431His) single nucleotide variant Pathogenic,risk factor rs2904552 GRCh37 Chromosome 22, 18905964: 18905964
14 PRODH NM_016335.4(PRODH): c.1292G> A (p.Arg431His) single nucleotide variant Pathogenic,risk factor rs2904552 GRCh38 Chromosome 22, 18918451: 18918451
15 PRODH NM_016335.4(PRODH): c.1561C> G (p.Gln521Glu) single nucleotide variant Pathogenic rs193919334 GRCh37 Chromosome 22, 18901005: 18901005
16 PRODH NM_016335.4(PRODH): c.1561C> G (p.Gln521Glu) single nucleotide variant Pathogenic rs193919334 GRCh38 Chromosome 22, 18913492: 18913492
17 PRODH NM_016335.4(PRODH): c.1397C> T (p.Thr466Met) single nucleotide variant risk factor rs2870984 GRCh37 Chromosome 22, 18905859: 18905859
18 PRODH NM_016335.4(PRODH): c.1397C> T (p.Thr466Met) single nucleotide variant risk factor rs2870984 GRCh38 Chromosome 22, 18918346: 18918346
19 PRODH NC_000022.11: g.(?_18913155)_(18936307_?)del deletion Pathogenic GRCh37 Chromosome 22, 18900668: 18923820
20 PRODH NC_000022.11: g.(?_18913155)_(18936307_?)del deletion Pathogenic GRCh38 Chromosome 22, 18913155: 18936307
21 PRODH NM_016335.4(PRODH): c.1623C> G (p.Ala541=) single nucleotide variant Benign rs16983347 GRCh37 Chromosome 22, 18900868: 18900868
22 PRODH NM_016335.4(PRODH): c.1623C> G (p.Ala541=) single nucleotide variant Benign rs16983347 GRCh38 Chromosome 22, 18913355: 18913355
23 PRODH NM_016335.4(PRODH): c.1163C> T (p.Pro388Leu) single nucleotide variant Uncertain significance rs147233639 GRCh37 Chromosome 22, 18907052: 18907052
24 PRODH NM_016335.4(PRODH): c.1163C> T (p.Pro388Leu) single nucleotide variant Uncertain significance rs147233639 GRCh38 Chromosome 22, 18919539: 18919539
25 PRODH NM_016335.4(PRODH): c.554G> A (p.Arg185Gln) single nucleotide variant Benign rs11913840 GRCh37 Chromosome 22, 18912677: 18912677
26 PRODH NM_016335.4(PRODH): c.554G> A (p.Arg185Gln) single nucleotide variant Benign rs11913840 GRCh38 Chromosome 22, 18925164: 18925164
27 PRODH NM_016335.4(PRODH): c.80G> T (p.Arg27Leu) single nucleotide variant Uncertain significance rs1411529753 GRCh37 Chromosome 22, 18923721: 18923721
28 PRODH NM_016335.4(PRODH): c.80G> T (p.Arg27Leu) single nucleotide variant Uncertain significance rs1411529753 GRCh38 Chromosome 22, 18936208: 18936208
29 PRODH NC_000022.11: g.(?_18922797)_(18936307_?)del deletion Pathogenic GRCh38 Chromosome 22, 18922797: 18936307
30 PRODH NC_000022.11: g.(?_18922797)_(18936307_?)del deletion Pathogenic GRCh37 Chromosome 22, 18910310: 18923820
31 PRODH NM_016335.4(PRODH): c.172G> A (p.Ala58Thr) single nucleotide variant Benign rs146648839 GRCh38 Chromosome 22, 18936116: 18936116
32 PRODH NM_016335.4(PRODH): c.172G> A (p.Ala58Thr) single nucleotide variant Benign rs146648839 GRCh37 Chromosome 22, 18923629: 18923629
33 PRODH NM_016335.4(PRODH): c.21G> A (p.Leu7=) single nucleotide variant Likely benign rs539772713 GRCh38 Chromosome 22, 18936267: 18936267
34 PRODH NM_016335.4(PRODH): c.21G> A (p.Leu7=) single nucleotide variant Likely benign rs539772713 GRCh37 Chromosome 22, 18923780: 18923780
35 PRODH NM_016335.4(PRODH): c.1440C> T (p.Tyr480=) single nucleotide variant Benign rs5992333 GRCh37 Chromosome 22, 18904489: 18904489
36 PRODH NM_016335.4(PRODH): c.1440C> T (p.Tyr480=) single nucleotide variant Benign rs5992333 GRCh38 Chromosome 22, 18916976: 18916976
37 PRODH NM_016335.4(PRODH): c.1374C> A (p.Gly458=) single nucleotide variant Benign rs2904550 GRCh37 Chromosome 22, 18905882: 18905882
38 PRODH NM_016335.4(PRODH): c.1374C> A (p.Gly458=) single nucleotide variant Benign rs2904550 GRCh38 Chromosome 22, 18918369: 18918369
39 PRODH NM_016335.4(PRODH): c.1362G> A (p.Ala454=) single nucleotide variant Benign rs2238730 GRCh37 Chromosome 22, 18905894: 18905894
40 PRODH NM_016335.4(PRODH): c.1362G> A (p.Ala454=) single nucleotide variant Benign rs2238730 GRCh38 Chromosome 22, 18918381: 18918381
41 PRODH NM_016335.4(PRODH): c.1279G> A (p.Val427Met) single nucleotide variant Benign rs2238731 GRCh37 Chromosome 22, 18905977: 18905977
42 PRODH NM_016335.4(PRODH): c.1279G> A (p.Val427Met) single nucleotide variant Benign rs2238731 GRCh38 Chromosome 22, 18918464: 18918464
43 PRODH NM_016335.4(PRODH): c.553C> T (p.Arg185Trp) single nucleotide variant Benign rs4819756 GRCh37 Chromosome 22, 18912678: 18912678
44 PRODH NM_016335.4(PRODH): c.553C> T (p.Arg185Trp) single nucleotide variant Benign rs4819756 GRCh38 Chromosome 22, 18925165: 18925165
45 PRODH NM_016335.4(PRODH): c.1006G> A (p.Ala336Thr) single nucleotide variant Uncertain significance rs1160517835 GRCh37 Chromosome 22, 18908860: 18908860
46 PRODH NM_016335.4(PRODH): c.1006G> A (p.Ala336Thr) single nucleotide variant Uncertain significance rs1160517835 GRCh38 Chromosome 22, 18921347: 18921347
47 PRODH NM_016335.4(PRODH): c.42T> C (p.Ile14=) single nucleotide variant Likely benign rs761010757 GRCh37 Chromosome 22, 18923759: 18923759
48 PRODH NM_016335.4(PRODH): c.42T> C (p.Ile14=) single nucleotide variant Likely benign rs761010757 GRCh38 Chromosome 22, 18936246: 18936246
49 PRODH NM_016335.4(PRODH): c.1418T> C (p.Met473Thr) single nucleotide variant Uncertain significance rs1555890224 GRCh38 Chromosome 22, 18918325: 18918325
50 PRODH NM_016335.4(PRODH): c.1418T> C (p.Met473Thr) single nucleotide variant Uncertain significance rs1555890224 GRCh37 Chromosome 22, 18905838: 18905838

Expression for Hyperprolinemia, Type I

Search GEO for disease gene expression data for Hyperprolinemia, Type I.

Pathways for Hyperprolinemia, Type I

GO Terms for Hyperprolinemia, Type I

Sources for Hyperprolinemia, Type I

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