MCID: HYP248
MIFTS: 27

Hyperprolinemia, Type I

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

Aliases & Classifications for Hyperprolinemia, Type I

MalaCards integrated aliases for Hyperprolinemia, Type I:

Name: Hyperprolinemia, Type I 57 13 55
Proline Oxidase Deficiency 57 59 75
Hyrpro1 57 75
Hpi 57 75
Proline Dehydrogenase Deficiency 73
Hyperprolinemia Type 1 59
Hyperprolinemia Type I 75
Hyperprolinemia 1 75

Characteristics:

Orphanet epidemiological data:

59
hyperprolinemia type 1
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
hyperprolinemia, type i:
Onset and clinical course phenotypic variability
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hyperprolinemia, Type I

OMIM : 57 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). Related phenotypes are seizures and proteinuria

UniProtKB/Swiss-Prot : 75 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 11.4
2 hydroxyprolinemia 11.4
3 type i 10.0
4 breast cancer 9.9
5 oral candidiasis 9.9
6 candidiasis 9.9

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



Diseases related to Hyperprolinemia, Type I

Symptoms & Phenotypes for Hyperprolinemia, Type I

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Hyperprolinemia, Type I:

59 32 (show all 17)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
2 proteinuria 59 32 frequent (33%) Frequent (79-30%) HP:0000093
3 nephropathy 59 32 frequent (33%) Frequent (79-30%) HP:0000112
4 schizophrenia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100753
5 prolinuria 59 32 frequent (33%) Frequent (79-30%) HP:0003137
6 hyperprolinemia 59 32 frequent (33%) Frequent (79-30%) HP:0008358
7 intellectual disability 32 HP:0001249
8 muscular hypotonia 32 HP:0001252
9 eeg abnormality 32 HP:0002353
10 global developmental delay 32 HP:0001263
11 stereotypy 32 HP:0000733
12 aggressive behavior 32 HP:0000718
13 hyperactivity 32 HP:0000752
14 status epilepticus 32 HP:0002133
15 generalized hypotonia 32 HP:0001290
16 hyperglycinuria 32 HP:0003108
17 hydroxyprolinuria 32 HP:0003080

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

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
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:

75
# 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 all 46)
# 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.1322T> C (p.Leu441Pro) single nucleotide variant risk factor rs2904551 GRCh37 Chromosome 22, 18905934: 18905934
6 PRODH NM_016335.4(PRODH): c.1322T> C (p.Leu441Pro) single nucleotide variant risk factor rs2904551 GRCh38 Chromosome 22, 18918421: 18918421
7 PRODH NM_016335.4(PRODH): c.1363G> T (p.Ala455Ser) single nucleotide variant Pathogenic,risk factor rs1807467 GRCh37 Chromosome 22, 18905893: 18905893
8 PRODH NM_016335.4(PRODH): c.1363G> T (p.Ala455Ser) single nucleotide variant Pathogenic,risk factor rs1807467 GRCh38 Chromosome 22, 18918380: 18918380
9 PRODH NM_016335.4(PRODH): c.1292G> A (p.Arg431His) single nucleotide variant Pathogenic,risk factor rs2904552 GRCh37 Chromosome 22, 18905964: 18905964
10 PRODH NM_016335.4(PRODH): c.1292G> A (p.Arg431His) single nucleotide variant Pathogenic,risk factor rs2904552 GRCh38 Chromosome 22, 18918451: 18918451
11 PRODH NM_016335.4(PRODH): c.1561C> G (p.Gln521Glu) single nucleotide variant Pathogenic rs193919334 GRCh37 Chromosome 22, 18901005: 18901005
12 PRODH NM_016335.4(PRODH): c.1561C> G (p.Gln521Glu) single nucleotide variant Pathogenic rs193919334 GRCh38 Chromosome 22, 18913492: 18913492
13 PRODH NM_016335.4(PRODH): c.1397C> T (p.Thr466Met) single nucleotide variant risk factor rs2870984 GRCh37 Chromosome 22, 18905859: 18905859
14 PRODH NM_016335.4(PRODH): c.1397C> T (p.Thr466Met) single nucleotide variant risk factor rs2870984 GRCh38 Chromosome 22, 18918346: 18918346
15 PRODH NC_000022.11: g.(?_18913155)_(18936307_?)del deletion Pathogenic GRCh37 Chromosome 22, 18900668: 18923820
16 PRODH NC_000022.11: g.(?_18913155)_(18936307_?)del deletion Pathogenic GRCh38 Chromosome 22, 18913155: 18936307
17 PRODH NM_016335.4(PRODH): c.1623C> G (p.Ala541=) single nucleotide variant Benign rs16983347 GRCh37 Chromosome 22, 18900868: 18900868
18 PRODH NM_016335.4(PRODH): c.1623C> G (p.Ala541=) single nucleotide variant Benign rs16983347 GRCh38 Chromosome 22, 18913355: 18913355
19 PRODH NM_016335.4(PRODH): c.1163C> T (p.Pro388Leu) single nucleotide variant Uncertain significance rs147233639 GRCh37 Chromosome 22, 18907052: 18907052
20 PRODH NM_016335.4(PRODH): c.1163C> T (p.Pro388Leu) single nucleotide variant Uncertain significance rs147233639 GRCh38 Chromosome 22, 18919539: 18919539
21 PRODH NM_016335.4(PRODH): c.554G> A (p.Arg185Gln) single nucleotide variant Benign rs11913840 GRCh37 Chromosome 22, 18912677: 18912677
22 PRODH NM_016335.4(PRODH): c.554G> A (p.Arg185Gln) single nucleotide variant Benign rs11913840 GRCh38 Chromosome 22, 18925164: 18925164
23 PRODH NM_016335.4(PRODH): c.80G> T (p.Arg27Leu) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 18923721: 18923721
24 PRODH NM_016335.4(PRODH): c.80G> T (p.Arg27Leu) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 18936208: 18936208
25 PRODH NC_000022.11: g.(?_18922797)_(18936307_?)del deletion Pathogenic GRCh37 Chromosome 22, 18910310: 18923820
26 PRODH NC_000022.11: g.(?_18922797)_(18936307_?)del deletion Pathogenic GRCh38 Chromosome 22, 18922797: 18936307
27 PRODH NM_016335.4(PRODH): c.172G> A (p.Ala58Thr) single nucleotide variant Benign rs146648839 GRCh37 Chromosome 22, 18923629: 18923629
28 PRODH NM_016335.4(PRODH): c.172G> A (p.Ala58Thr) single nucleotide variant Benign rs146648839 GRCh38 Chromosome 22, 18936116: 18936116
29 PRODH NM_016335.4(PRODH): c.21G> A (p.Leu7=) single nucleotide variant Likely benign rs539772713 GRCh38 Chromosome 22, 18936267: 18936267
30 PRODH NM_016335.4(PRODH): c.21G> A (p.Leu7=) single nucleotide variant Likely benign rs539772713 GRCh37 Chromosome 22, 18923780: 18923780
31 PRODH NM_016335.4(PRODH): c.1440C> T (p.Tyr480=) single nucleotide variant Benign rs5992333 GRCh37 Chromosome 22, 18904489: 18904489
32 PRODH NM_016335.4(PRODH): c.1440C> T (p.Tyr480=) single nucleotide variant Benign rs5992333 GRCh38 Chromosome 22, 18916976: 18916976
33 PRODH NM_016335.4(PRODH): c.1374C> A (p.Gly458=) single nucleotide variant Benign rs2904550 GRCh37 Chromosome 22, 18905882: 18905882
34 PRODH NM_016335.4(PRODH): c.1374C> A (p.Gly458=) single nucleotide variant Benign rs2904550 GRCh38 Chromosome 22, 18918369: 18918369
35 PRODH NM_016335.4(PRODH): c.1362G> A (p.Ala454=) single nucleotide variant Benign rs2238730 GRCh37 Chromosome 22, 18905894: 18905894
36 PRODH NM_016335.4(PRODH): c.1362G> A (p.Ala454=) single nucleotide variant Benign rs2238730 GRCh38 Chromosome 22, 18918381: 18918381
37 PRODH NM_016335.4(PRODH): c.1279G> A (p.Val427Met) single nucleotide variant Benign rs2238731 GRCh37 Chromosome 22, 18905977: 18905977
38 PRODH NM_016335.4(PRODH): c.1279G> A (p.Val427Met) single nucleotide variant Benign rs2238731 GRCh38 Chromosome 22, 18918464: 18918464
39 PRODH NM_016335.4(PRODH): c.553C> T (p.Arg185Trp) single nucleotide variant Benign rs4819756 GRCh37 Chromosome 22, 18912678: 18912678
40 PRODH NM_016335.4(PRODH): c.553C> T (p.Arg185Trp) single nucleotide variant Benign rs4819756 GRCh38 Chromosome 22, 18925165: 18925165
41 PRODH NM_016335.4(PRODH): c.1006G> A (p.Ala336Thr) single nucleotide variant Uncertain significance GRCh37 Chromosome 22, 18908860: 18908860
42 PRODH NM_016335.4(PRODH): c.1006G> A (p.Ala336Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 18921347: 18921347
43 PRODH NM_016335.4(PRODH): c.42T> C (p.Ile14=) single nucleotide variant Likely benign rs761010757 GRCh37 Chromosome 22, 18923759: 18923759
44 PRODH NM_016335.4(PRODH): c.42T> C (p.Ile14=) single nucleotide variant Likely benign rs761010757 GRCh38 Chromosome 22, 18936246: 18936246
45 PRODH NM_016335.4(PRODH): c.1418T> C (p.Met473Thr) single nucleotide variant Uncertain significance GRCh38 Chromosome 22, 18918325: 18918325
46 PRODH NM_016335.4(PRODH): c.1418T> C (p.Met473Thr) single nucleotide variant Uncertain significance 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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