HYRPRO1
MCID: HYP248
MIFTS: 43

Hyperprolinemia, Type I (HYRPRO1)

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

Aliases & Classifications for Hyperprolinemia, Type I

MalaCards integrated aliases for Hyperprolinemia, Type I:

Name: Hyperprolinemia, Type I 57 13 54
Proline Oxidase Deficiency 57 58 72 6
Hyperprolinemia Type 1 12 58 15
Hyperprolinemia Type I 12 72
Hyrpro1 57 72
Hpi 57 72
Proline Dehydrogenase Deficiency 70
Hyperprolinemia 1 72

Characteristics:

Orphanet epidemiological data:

58
hyperprolinemia type 1
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

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


HPO:

31
hyperprolinemia, type i:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Inborn errors of metabolism


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) (Updated 20-May-2021)

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), and among its related pathways/superpathways are Amino acid synthesis and interconversion (transamination) and Alanine, aspartate and glutamate metabolism. Related phenotypes are proteinuria and nephropathy

Disease Ontology : 12 A hyperprolinemia that has material basis in homozygous or compound heterozygous mutation in the proline dehydrogenase gene on chromosome 22q11.

UniProtKB/Swiss-Prot : 72 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:

(show all 47)
# Related Disease Score Top Affiliating Genes
1 hyperprolinemia 31.4 PYCR1 PRODH HSERVPRODH DGCR6L DGCR5 ALDH4A1
2 hydroxyprolinemia 11.6
3 gamma-amino butyric acid metabolism disorder 10.3 PRODH ALDH4A1
4 t-cell immunodeficiency with thymic aplasia 10.2 PRODH DGCR5
5 neu-laxova syndrome 2 10.2 OAT ALDH4A1
6 combined d-2- and l-2-hydroxyglutaric aciduria 10.2 TSSK2 PRODH
7 2,4-dienoyl-coa reductase deficiency 10.2 NADK2 DECR1
8 prolidase deficiency 10.2 PRODH PEPD
9 chromosome 22q11.2 duplication syndrome 10.1 PRODH DGCR6L DGCR5
10 histidine metabolism disease 10.1 PRODH ADSL
11 histidinemia 10.1 PRODH ADSL
12 3-methylcrotonyl-coa carboxylase deficiency 10.1 PRODH ADSL
13 multiple acyl-coa dehydrogenase deficiency 10.1 PRODH NADK2 DECR1
14 alkaptonuria 10.0 PRODH ADSL
15 iminoglycinuria 10.0
16 schizophrenia 4 10.0
17 status epilepticus 10.0
18 learning disability 10.0
19 succinic semialdehyde dehydrogenase deficiency 10.0 PRODH ALDH4A1 ADSL
20 xanthinuria 10.0 SUOX PRODH
21 van den ende-gupta syndrome 10.0 TSSK2 PRODH DGCR2
22 urea cycle disorder 10.0 PRODH ADSL
23 amino acid metabolic disorder 9.9 PRODH PEPD DGCR5 ALDH4A1
24 hyperprolinemia, type ii 9.9 PRODH NADK2 DECR1 ALDH4A1
25 molybdenum cofactor deficiency, complementation group a 9.9 SUOX ADSL
26 molybdenum cofactor deficiency 9.9 SUOX ADSL
27 argininemia 9.9 PRODH OAT
28 medulloblastoma 9.9
29 papillomatosis, confluent and reticulated 9.9
30 schizophrenia 9.9
31 schizophrenia 1 9.9
32 alveolar soft part sarcoma 9.9
33 urinary tract infection 9.9
34 diarrhea 9.9
35 dumping syndrome 9.9
36 intermittent claudication 9.9
37 hypoglycemia 9.9
38 chromosomal deletion syndrome 9.9 PRODH DGCR6L DGCR5 DGCR2
39 velocardiofacial syndrome 9.9 PRODH DGCR6L DGCR5 DGCR2
40 orotic aciduria 9.9 OAT ADSL
41 biotinidase deficiency 9.8 SUOX ADSL
42 purine-pyrimidine metabolic disorder 9.8 SUOX PRODH ADSL
43 maple syrup urine disease 9.8 SUOX PRODH ADSL
44 dihydropyrimidine dehydrogenase deficiency 9.8 SUOX ADSL
45 cerebral creatine deficiency syndrome 2 9.8 SUOX OAT ADSL
46 hyperlysinemia, type i 9.8 SUOX PRODH NADK2 DECR1
47 digeorge syndrome 9.4 TSSK2 PRODH FAM230A DGCR6L DGCR5 DGCR2

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:

58 31 (show all 21)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 proteinuria 58 31 frequent (33%) Frequent (79-30%) HP:0000093
2 nephropathy 58 31 frequent (33%) Frequent (79-30%) HP:0000112
3 prolinuria 58 31 frequent (33%) Frequent (79-30%) HP:0003137
4 hyperprolinemia 58 31 very rare (1%) Frequent (79-30%) HP:0008358
5 schizophrenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100753
6 seizure 31 very rare (1%) HP:0001250
7 ataxia 31 very rare (1%) HP:0001251
8 global developmental delay 31 very rare (1%) HP:0001263
9 delayed speech and language development 31 very rare (1%) HP:0000750
10 autistic behavior 31 very rare (1%) HP:0000729
11 hyperglycinuria 31 very rare (1%) HP:0003108
12 intellectual disability 31 HP:0001249
13 seizures 58 Occasional (29-5%)
14 eeg abnormality 31 HP:0002353
15 stereotypy 31 HP:0000733
16 status epilepticus 31 HP:0002133
17 aggressive behavior 31 HP:0000718
18 hyperactivity 31 HP:0000752
19 generalized hypotonia 31 HP:0001290
20 hydroxyprolinuria 31 HP:0003080
21 hypotonia 31 HP:0001252

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
seizures
status epilepticus
hypotonia
delayed psychomotor development
abnormal eeg
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
autistic features
aggression
stereotyped behavior
increased susceptibility to schizophrenia

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

Clinical features from OMIM®:

239500 (Updated 20-May-2021)

UMLS symptoms related to Hyperprolinemia, Type I:


seizures

GenomeRNAi Phenotypes related to Hyperprolinemia, Type I according to GeneCards Suite gene sharing:

26 (show all 21)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-124 9.64 DGCR2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-131 9.64 DGCR2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-133 9.64 DGCR2
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-136 9.64 PRODH
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.64 PRODH
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-181 9.64 SUOX
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-182 9.64 DGCR2
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-192 9.64 PRODH
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-198 9.64 PRODH
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-2 9.64 DGCR2
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-200 9.64 PRODH
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-209 9.64 SUOX
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-216 9.64 SUOX
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.64 PRODH
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-5 9.64 PRODH
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-55 9.64 PRODH
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-60 9.64 DGCR2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-76 9.64 SUOX
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-84 9.64 SUOX
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 9.64 PRODH
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.64 SUOX

MGI Mouse Phenotypes related to Hyperprolinemia, Type I:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 pigmentation MP:0001186 8.92 NADK2 OAT PEPD PRODH

Drugs & Therapeutics for Hyperprolinemia, Type I

Search Clinical Trials , 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:

(show all 33)
# Title Authors PMID Year
1
Early neurological phenotype in 4 children with biallelic PRODH mutations. 61 6 57
17412540 2007
2
PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. 6 57 54
12217952 2002
3
Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. 57 61 6
11510941 2001
4
Association of hyperprolinaemia type I and heparin cofactor II deficiency with CATCH 22 syndrome: evidence for a contiguous gene syndrome locating the proline oxidase gene. 57 61
8803768 1996
5
The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD. 6
26978485 2016
6
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. 6
19736351 2009
7
Functional consequences of PRODH missense mutations. 6
15662599 2005
8
The severe form of type I hyperprolinaemia results from homozygous inactivation of the PRODH gene. 57
12525555 2003
9
Genetic variation at the 22q11 PRODH2/DGCR6 locus presents an unusual pattern and increases susceptibility to schizophrenia. 6
11891283 2002
10
Hyperprolinaemia in patients with deletion (22)(q11.2) syndrome. 57
11196113 2000
11
A human homologue of the Drosophila melanogaster sluggish-A (proline oxidase) gene maps to 22q11.2, and is a candidate gene for type-I hyperprolinaemia. 57
9385373 1997
12
[A case of type I hyperprolinemia associated with photogenic epilepsy]. 57
1994998 1991
13
Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality. 57
3617056 1987
14
Increased taurine excretion in hereditary hyperprolinemia of the mouse. 57
4823641 1974
15
Hyperprolinemia. I. Study of a large family. 57
4729989 1973
16
Hereditary renal disease with neurosensory hearing loss, prolinuria and ichthyosis. 57
5680908 1968
17
Congenital renal dysplasia, retinal dysplasia and mental retardation associated with hyperprolinuria and hyper-oh-prolinuria. 57
5706039 1968
18
Hyperprolinaemia in two successive generations of a North American Indian family. 57
4299764 1968
19
FAMILIAL HYPERPROLINEMIA. REPORT OF A SECOND CASE, ASSOCIATED WITH CONGENITAL RENAL MALFORMATIONS, HEREDITARY HEMATURIA AND MILD MENTAL RETARDATION, WITH DEMONSTRATION OF AN ENZYME DEFECT. 57
14290545 1965
20
Familial hyperprolinemia, cerebral dysfunction and renal anomalies occurring in a family with hereditary nephropathy and deafness. 57
14497974 1962
21
New renal tubular amino-acid transport system and a new hereditary disorder of amino-acid metabolism. 57
13910063 1961
22
Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation. 61 54
18197084 2008
23
Proline oxidase controls proline, glutamate, and glutamine cellular concentrations in a U87 glioblastoma cell line. 61
29694413 2018
24
Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations. 61
28202261 2017
25
Biochemical and clinical features of hereditary hyperprolinemia. 61
24931297 2014
26
Long-term neuropsychiatric follow-up in hyperprolinemia type I. 61
24842239 2014
27
Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. 61
24173411 2014
28
Identification of PRODH mutations in Korean neonates with type I hyperprolinemia. 61
23462603 2013
29
Inborn errors of proline metabolism. 61
18806117 2008
30
Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. 54
17135275 2007
31
[Hyperprolinemia type I]. 61
9590013 1998
32
[Inborn errors of imino acid metabolism]. 61
1404885 1992
33
[Hyperprolinemia type I]. 61
4420280 1974

Variations for Hyperprolinemia, Type I

ClinVar genetic disease variations for Hyperprolinemia, Type I:

6 (show top 50) (show all 63)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 overlap with 3 genes NC_000022.11:g.(?_18906222)_(18936553_?)del Deletion Pathogenic 4005 GRCh37: 22:18893735-18924066
GRCh38: 22:18906222-18936553
2 PRODH NM_016335.5(PRODH):c.1292G>A (p.Arg431His) SNV Pathogenic 4011 rs2904552 GRCh37: 22:18905964-18905964
GRCh38: 22:18918451-18918451
3 PRODH NM_016335.6(PRODH):c.1561C>G (p.Arg521Gly) SNV Pathogenic 4012 rs193919334 GRCh37: 22:18901005-18901005
GRCh38: 22:18913492-18913492
4 PRODH and overlap with 1 gene(s) NC_000022.11:g.(?_18913155)_(18936307_?)del Deletion Pathogenic 459905 GRCh37: 22:18900668-18923820
GRCh38: 22:18913155-18936307
5 PRODH and overlap with 1 gene(s) NC_000022.11:g.(?_18922797)_(18936307_?)del Deletion Pathogenic 459906 GRCh37: 22:18910310-18923820
GRCh38: 22:18922797-18936307
6 overlap with 4 genes NC_000022.11:g.(?_18906375)_(18986158_?)del Deletion Pathogenic 583475 GRCh37: 22:18893888-18973671
GRCh38: 22:18906375-18986158
7 HSERVPRODH , PRODH NM_016335.6(PRODH):c.2T>G (p.Met1Arg) SNV Pathogenic 1032732 GRCh37: 22:18923799-18923799
GRCh38: 22:18936286-18936286
8 PRODH NM_016335.5(PRODH):c.650G>A (p.Arg217His) SNV Conflicting interpretations of pathogenicity 547846 rs148375080 GRCh37: 22:18912581-18912581
GRCh38: 22:18925068-18925068
9 PRODH NM_016335.5(PRODH):c.1397C>T (p.Thr466Met) SNV Conflicting interpretations of pathogenicity 4013 rs2870984 GRCh37: 22:18905859-18905859
GRCh38: 22:18918346-18918346
10 PRODH NM_016335.6(PRODH):c.1357C>T (p.Arg453Cys) SNV Uncertain significance 4006 rs3970559 GRCh37: 22:18905899-18905899
GRCh38: 22:18918386-18918386
11 PRODH NM_016335.5(PRODH):c.865T>A (p.Leu289Met) SNV Uncertain significance 4007 rs137852934 GRCh37: 22:18909902-18909902
GRCh38: 22:18922389-18922389
12 PRODH NM_016335.5(PRODH):c.1322T>C (p.Leu441Pro) SNV Uncertain significance 4008 rs2904551 GRCh37: 22:18905934-18905934
GRCh38: 22:18918421-18918421
13 PRODH NM_016335.5(PRODH):c.1363G>T (p.Ala455Ser) SNV Uncertain significance 4009 rs1807467 GRCh37: 22:18905893-18905893
GRCh38: 22:18918380-18918380
14 PRODH NM_016335.5(PRODH):c.80G>T (p.Arg27Leu) SNV Uncertain significance 459919 rs1411529753 GRCh37: 22:18923721-18923721
GRCh38: 22:18936208-18936208
15 PRODH NM_016335.5(PRODH):c.1163C>T (p.Pro388Leu) SNV Uncertain significance 459908 rs147233639 GRCh37: 22:18907052-18907052
GRCh38: 22:18919539-18919539
16 PRODH NM_016335.6(PRODH):c.1181C>T (p.Thr394Met) SNV Uncertain significance 840461 GRCh37: 22:18907034-18907034
GRCh38: 22:18919521-18919521
17 PRODH NM_016335.6(PRODH):c.1402G>A (p.Glu468Lys) SNV Uncertain significance 847648 GRCh37: 22:18905854-18905854
GRCh38: 22:18918341-18918341
18 PRODH NM_016335.6(PRODH):c.1397C>A (p.Thr466Lys) SNV Uncertain significance 849233 GRCh37: 22:18905859-18905859
GRCh38: 22:18918346-18918346
19 PRODH NM_016335.6(PRODH):c.1471G>T (p.Ala491Ser) SNV Uncertain significance 853698 GRCh37: 22:18904458-18904458
GRCh38: 22:18916945-18916945
20 PRODH NM_016335.6(PRODH):c.131C>G (p.Thr44Arg) SNV Uncertain significance 935144 GRCh37: 22:18923670-18923670
GRCh38: 22:18936157-18936157
21 PRODH NM_016335.6(PRODH):c.1003A>G (p.Asn335Asp) SNV Uncertain significance 937345 GRCh37: 22:18908863-18908863
GRCh38: 22:18921350-18921350
22 PRODH NM_016335.6(PRODH):c.803C>T (p.Ala268Val) SNV Uncertain significance 945607 GRCh37: 22:18910376-18910376
GRCh38: 22:18922863-18922863
23 PRODH NM_016335.6(PRODH):c.1362_1363delinsAT (p.Ala455Ser) Indel Uncertain significance 954759 GRCh37: 22:18905893-18905894
GRCh38: 22:18918380-18918381
24 PRODH NM_016335.6(PRODH):c.237G>C (p.Leu79Phe) SNV Uncertain significance 966136 GRCh37: 22:18923564-18923564
GRCh38: 22:18936051-18936051
25 PRODH NM_016335.6(PRODH):c.853A>G (p.Ser285Gly) SNV Uncertain significance 967305 GRCh37: 22:18909914-18909914
GRCh38: 22:18922401-18922401
26 PRODH NM_016335.6(PRODH):c.880A>G (p.Arg294Gly) SNV Uncertain significance 970341 GRCh37: 22:18909887-18909887
GRCh38: 22:18922374-18922374
27 PRODH NM_016335.6(PRODH):c.1295G>A (p.Arg432His) SNV Uncertain significance 1000921 GRCh37: 22:18905961-18905961
GRCh38: 22:18918448-18918448
28 PRODH NM_016335.6(PRODH):c.1036T>G (p.Ser346Ala) SNV Uncertain significance 1007263 GRCh37: 22:18907287-18907287
GRCh38: 22:18919774-18919774
29 overlap with 2 genes NC_000022.10:g.(?_18899287)_(18925066_?)dup Duplication Uncertain significance 1015845 GRCh37: 22:18899287-18925066
GRCh38:
30 PRODH NM_016335.6(PRODH):c.1772G>A (p.Arg591Gln) SNV Uncertain significance 1016144 GRCh37: 22:18900719-18900719
GRCh38: 22:18913206-18913206
31 PRODH NM_016335.6(PRODH):c.1174C>T (p.Arg392Cys) SNV Uncertain significance 1018797 GRCh37: 22:18907041-18907041
GRCh38: 22:18919528-18919528
32 PRODH NM_016335.5(PRODH):c.130_156del (p.Thr44_Ala52del) Deletion Uncertain significance 547891 rs949036081 GRCh37: 22:18923645-18923671
GRCh38: 22:18936132-18936158
33 PRODH NM_016335.5(PRODH):c.1006G>A (p.Ala336Thr) SNV Uncertain significance 459907 rs1160517835 GRCh37: 22:18908860-18908860
GRCh38: 22:18921347-18921347
34 PRODH NM_016335.5(PRODH):c.1418T>C (p.Met473Thr) SNV Uncertain significance 529418 rs1555890224 GRCh37: 22:18905838-18905838
GRCh38: 22:18918325-18918325
35 PRODH NM_016335.6(PRODH):c.1763G>A (p.Arg588Lys) SNV Uncertain significance 1036595 GRCh37: 22:18900728-18900728
GRCh38: 22:18913215-18913215
36 PRODH NM_016335.6(PRODH):c.829C>A (p.Leu277Met) SNV Uncertain significance 1040796 GRCh37: 22:18910350-18910350
GRCh38: 22:18922837-18922837
37 PRODH NM_016335.6(PRODH):c.392G>A (p.Arg131Gln) SNV Uncertain significance 1045280 GRCh37: 22:18918593-18918593
GRCh38: 22:18931080-18931080
38 PRODH NM_016335.5(PRODH):c.1091A>G (p.Asp364Gly) SNV Uncertain significance 392188 rs1057524390 GRCh37: 22:18907232-18907232
GRCh38: 22:18919719-18919719
39 PRODH NM_016335.6(PRODH):c.358G>A (p.Gly120Arg) SNV Uncertain significance 1047594 GRCh37: 22:18918627-18918627
GRCh38: 22:18931114-18931114
40 PRODH NM_016335.6(PRODH):c.223C>A (p.Leu75Met) SNV Uncertain significance 1052001 GRCh37: 22:18923578-18923578
GRCh38: 22:18936065-18936065
41 PRODH NC_000022.10:g.(?_18900668)_(18906024_?)dup Duplication Uncertain significance 1054448 GRCh37: 22:18900668-18906024
GRCh38:
42 PRODH NM_016335.6(PRODH):c.578G>A (p.Gly193Asp) SNV Uncertain significance 1061159 GRCh37: 22:18912653-18912653
GRCh38: 22:18925140-18925140
43 PRODH and overlap with 1 gene(s) NC_000022.10:g.(?_18900668)_(18923820_?)dup Duplication Uncertain significance 583512 GRCh37: 22:18900668-18923820
GRCh38: 22:18913155-18936307
44 PRODH NM_016335.5(PRODH):c.391C>T (p.Arg131Trp) SNV Uncertain significance 650558 rs753625227 GRCh37: 22:18918594-18918594
GRCh38: 22:18931081-18931081
45 PRODH NM_016335.5(PRODH):c.1093G>A (p.Val365Ile) SNV Uncertain significance 661118 rs768237039 GRCh37: 22:18907230-18907230
GRCh38: 22:18919717-18919717
46 PRODH NM_016335.5(PRODH):c.1173C>T (p.Ser391=) SNV Likely benign 697519 rs3970556 GRCh37: 22:18907042-18907042
GRCh38: 22:18919529-18919529
47 PRODH NM_016335.5(PRODH):c.1463A>G (p.Asn488Ser) SNV Likely benign 702032 rs139903009 GRCh37: 22:18904466-18904466
GRCh38: 22:18916953-18916953
48 PRODH NM_016335.5(PRODH):c.42T>C (p.Ile14=) SNV Likely benign 459916 rs761010757 GRCh37: 22:18923759-18923759
GRCh38: 22:18936246-18936246
49 PRODH NM_016335.5(PRODH):c.417C>T (p.Ser139=) SNV Likely benign 756824 rs1414061185 GRCh37: 22:18918568-18918568
GRCh38: 22:18931055-18931055
50 PRODH NM_016335.5(PRODH):c.21G>A (p.Leu7=) SNV Likely benign 459915 rs539772713 GRCh37: 22:18923780-18923780
GRCh38: 22:18936267-18936267

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

72
# Symbol AA change Variation ID SNP ID
1 PRODH p.Leu289Met VAR_029566 rs137852934
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

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

Cellular components related to Hyperprolinemia, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.5 SUOX PYCR1 PRODH OAT NADK2 DECR1
2 mitochondrial matrix GO:0005759 9.17 SUOX PYCR1 PRODH OAT NADK2 DECR1

Biological processes related to Hyperprolinemia, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidation-reduction process GO:0055114 9.77 SUOX PYCR1 PRODH DECR1 ALDH4A1
2 cellular amino acid biosynthetic process GO:0008652 9.4 PYCR1 OAT
3 L-proline biosynthetic process GO:0055129 9.32 PYCR1 OAT
4 proline catabolic process GO:0006562 9.26 PRODH ALDH4A1
5 4-hydroxyproline catabolic process GO:0019470 9.16 PRODH ALDH4A1
6 proline catabolic process to glutamate GO:0010133 8.96 PRODH ALDH4A1
7 proline metabolic process GO:0006560 8.62 PRODH ALDH4A1

Molecular functions related to Hyperprolinemia, Type I according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 9.02 SUOX PYCR1 PRODH DECR1 ALDH4A1

Sources for Hyperprolinemia, Type I

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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