Hyperprolinemia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

MCID: HYP111 MIFTS: 34	Hyperprolinemia Categories: Rare diseases, Genetic diseases, Neuronal diseases, Metabolic diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Download Expand all tables

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Aliases & Classifications for Hyperprolinemia

MalaCards integrated aliases for Hyperprolinemia:

Name: Hyperprolinemia ⁵³ ²⁵ ³⁷ ²⁹ ⁵⁵ ⁶ ⁷³

Proline Oxidase Deficiency ⁵³ ²⁵

Pyrroline-5-Carboxylate Dehydrogenase Deficiency ²⁵

Pyrroline Carboxylate Dehydrogenase Deficiency ²⁵

Proline Dehydrogenase Deficiency ⁷³

Proline Hydrogenase Deficiency ⁵³

Hyperprolinemia Type 1 ⁵³

Hyperprolinemia Type 2 ⁷³

Prolinemia ²⁵

Classifications:

MalaCards categories:
Global: Rare diseases Genetic diseases Metabolic diseases
Anatomical: Neuronal diseases

See all MalaCards categories (disease lists)

External Ids:

KEGG ³⁷ H00190

UMLS ⁷³ C0268528 C0268529 C2931835

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Summaries for Hyperprolinemia

NIH Rare Diseases : ⁵³ 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, testes and skin.

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 : ⁷⁶ Hyperprolinemia, also referred to as prolinemia or prolinuria, is a condition which occurs when the... more...

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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 17)

#	Related Disease	Score	Top Affiliating Genes
1	schizoaffective disorder	28.7	COMT PRODH
2	hyperprolinemia, type ii	12.5
3	hyperprolinemia, type i	12.4
4	type i	10.2
5	schizophrenia	10.0
6	dicarboxylic aminoaciduria	9.8
7	hydroxyprolinemia	9.8
8	alcoholic liver cirrhosis	9.8
9	liver cirrhosis	9.8
10	liver disease	9.8
11	thalassemia	9.8
12	epilepsy	9.8
13	cerebritis	9.8
14	aminoaciduria	9.8
15	childhood-onset schizophrenia	9.8
16	psychotic disorder	9.2	COMT PRODH
17	velocardiofacial syndrome	9.0	COMT PRODH

Graphical network of the top 20 diseases related to Hyperprolinemia:

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Symptoms & Phenotypes for Hyperprolinemia

UMLS symptoms related to Hyperprolinemia:

seizures

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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

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Genetic Tests for Hyperprolinemia

Genetic tests related to Hyperprolinemia:

#	Genetic test	Affiliating Genes
1	Hyperprolinemia ²⁹

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Anatomical Context for Hyperprolinemia

MalaCards organs/tissues related to Hyperprolinemia:

⁴¹

Liver, Testes, Skin, Brain

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Publications for Hyperprolinemia

Articles related to Hyperprolinemia:

(show top 50) (show all 54)

#	Title	Authors	Year
1	Hyperprolinemia as a clue in the diagnosis of a patient with psychiatric manifestations. ( 28202261 )	Duarte M....Sequeira S.	2017
2	Hyperprolinemia in Type 2 Glutaric Aciduria and MADD-Like Profiles. ( 26409463 )	Pontoizeau C....Ottolenghi C.	2016
3	Long-term neuropsychiatric follow-up in hyperprolinemia type I. ( 24842239 )	Di Rosa G....Tortorella G.	2014
4	Biochemical and clinical features of hereditary hyperprolinemia. ( 24931297 )	Mitsubuchi H....Endo F.	2014
5	Vitamin D insufficiency and schizophrenia risk: evaluation of hyperprolinemia as a mediator of association. ( 24787057 )	Clelland J.D....Clelland C.L.	2014
6	Hyperprolinemia induces DNA, protein and lipid damage in blood of rats: antioxidant protection. ( 24980685 )	Ferreira A.G....Wyse A.T.	2014
7	Identification of PRODH mutations in Korean neonates with type I hyperprolinemia. ( 23462603 )	Jang M.A....Park H.D.	2013
8	Long-term clinical outcome, therapy and mild mitochondrial dysfunction in hyperprolinemia. ( 24173411 )	van de Ven S....Morava E.	2013
9	Evidence that hyperprolinemia alters glutamatergic homeostasis in rat brain: neuroprotector effect of guanosine. ( 21935728 )	Ferreira A.G....Wyse A.T.	2012
10	Experimental hyperprolinemia induces mild oxidative stress, metabolic changes, and tissue adaptation in rat liver. ( 21882227 )	Ferreira A.G....Wyse A.T.	2012
11	The three-dimensional structural basis of type II hyperprolinemia. ( 22516612 )	Srivastava D....Tanner J.J.	2012
12	Physical exercise reverses cognitive impairment in rats subjected to experimental hyperprolinemia. ( 21792675 )	Ferreira A.G....Wyse A.T.	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 )	He F....DiMario P.J.	2011
14	Evidence for association of hyperprolinemia with schizophrenia and a measure of clinical outcome. ( 21645996 )	Clelland C.L....Clelland J.D.	2011
15	Type I hyperprolinemia: genotype/phenotype correlations. ( 20524212 )	Guilmatre A....Campion D.	2010
16	Type I hyperprolinemia and proline dehydrogenase (PRODH) mutations in four Italian children with epilepsy and mental retardation. ( 18197084 )	Di Rosa G....Tortorella G.	2008
17	Involvement of hyperprolinemia in cognitive and psychiatric features of the 22q11 deletion syndrome. ( 17135275 )	Raux G....Campion D.	2007
18	Hyperprolinemia is not associated with childhood onset schizophrenia. ( 16389584 )	Jacquet H....Campion D.	2006
19	alpha-Tocopherol and ascorbic acid prevent memory deficits provoked by chronic hyperprolinemia in rats. ( 16214240 )	Delwing D....Wyse A.T.	2006
20	Chronic hyperprolinemia provokes a memory deficit in the Morris water maze task. ( 15918552 )	Bavaresco C.S....Wyse A.T.	2005
21	Effect of hyperprolinemia on acetylcholinesterase and butyrylcholinesterase activities in rat. ( 15789140 )	Delwing D....Wyse A.T.	2005
22	Hyperprolinemia is a risk factor for schizoaffective disorder. ( 15494707 )	Jacquet H....Campion D.	2005
23	Type II hyperprolinemia: a case report. ( 15214748 )	Onenli-Mungan N....Ozer G.	2004
24	PRODH mutations and hyperprolinemia in a subset of schizophrenic patients. ( 12217952 )	Jacquet H....Frebourg T.	2002
25	Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. ( 11134058 )	Farrant R.D....Langley G.J.	2001
26	Is hyperprolinemia type I actually a benign trait? Report of a case with severe neurologic involvement and vigabatrin intolerance. ( 11510941 )	Humbertclaude V....Morin D.	2001
27	Type I hyperprolinemia. ( 10957843 )	Shivananda ....Kumar P.	2000
28	Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. ( 9700195 )	Geraghty M.T....Hu C.-A.A.	1998
29	High urinary excretion of N-(pyrrole-2-carboxyl) glycine in type II hyperprolinemia. ( 2383933 )	Wajner M....Purkiss P.	1990
30	Hyperprolinemia and lactatemia in alcoholic liver disease: relationships to abstinence and histological findings. ( 2312066 )	Rojkind M.	1990
31	Clinical, biochemical and enzymatic studies in type I hyperprolinemia associated with chromosomal abnormality. ( 3617056 )	Oyanagi K....Shiono H.	1987
32	Frequency of hyperprolinemia in alcoholic liver cirrhosis: relationship to blood lactate. ( 6706303 )	Shaw S....Lieber C.S.	1984
33	Hyperprolinemia type II: evidence of the excretion of 3-hydroxy delta 1-pyrroline 5-carboxylic acid. ( 445797 )	Dooley K.C....Applegarth D.A.	1979
34	Non-chromatographic screening test for hyperprolinemia. ( 719867 )	Yamaguchi Y.	1978
35	Hyperprolinemia type II: identification of the glycine conjugate of pyrrole-2-carboxylic acid in urine. ( 837521 )	Applegarth D.A....Jellum E.	1977
36	Type I hyperprolinemia: a study of the intestinal absorption of proline, hydroxyproline, and glycine. ( 934727 )	Farriaux J.P....Dhondt J.L.	1976
37	Type II hyperprolinemia. Delta1-pyrroline-5-carboxylic acid dehydrogenase deficiency in cultured skin fibroblasts and circulating lymphocytes. ( 956388 )	Valle D....Phang J.M.	1976
38	Type 2 hyperprolinemia: absence of delta1-pyrroline-5-carboxylic acid dehydrogenase activity. ( 4369405 )	Valle D.L....Goodman S.I.	1974
39	Defective hydroxyproline metabolism in type II hyperprolinemia. ( 4851275 )	Goodman S.I....Brown S.B.	1974
40	Hyperprolinemia type II. ( 4825691 )	Applegarth D.A....Hardwick D.F.	1974
41	Increased taurine excretion in hereditary hyperprolinemia of the mouse. ( 4823641 )	Blake R.L....Russell E.S.	1974
42	Dicarboxylic aminoaciduria: an inborn error of glutamate and aspartate transport with metabolic implications, in combination with a hyperprolinemia. ( 4810805 )	Teijema H.L....Laurent de Angulo M.S.	1974
43	Hyperprolinemia. I. Study of a large family. ( 4729989 )	Potter J.L....Waickman F.J.	1973
44	Hyperprolinemia and prolinuria in a new inbred strain of mice, PRO-Re. ( 5031477 )	Blake R.L....Russell E.S.	1972
45	Familial hyperprolinemia without mental retardation and hereditary nephropathy. ( 4663888 )	Mollica F....Antener I.	1972
46	Dietary reduction of hyperprolinemia. ( 5779265 )	Goyer R.A....Leonard D.L.	1969
47	Familial hyperprolinemia and mental retardation. A second metabolic type. ( 5815222 )	Selkoe D.J.	1969
48	Hyperprolinemia: clinical and biochemical family study. ( 5346634 )	Woody N.C....Harris J.A.	1969
49	Hyperprolinemia and hyperprolinuria in thalassemia. ( 5667426 )	Liakakos D....Agathopoulos A.	1968
50	Treatment of hydroxyprolinemia and hyperprolinemia. ( 6015897 )	Efron M.L.	1967

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Genes for Hyperprolinemia

Genes related to Hyperprolinemia (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	PRODH	Proline Dehydrogenase 1	Protein Coding	58.27	Novoseek inferred ⁵⁵ GeneCards inferred via : Disorders Publications Summaries Variants (show sections)	12217952 15494707 17135275 (more) 16389584
2	ALDH4A1	Aldehyde Dehydrogenase 4 Family Member A1	Protein Coding	48.19	GeneCards inferred via : Disorders Publications Summaries Variants (show sections)
3	COMT	Catechol-O-Methyltransferase	Protein Coding	16.86	GeneCards inferred via : Publications (show sections)
4	MIR4695	MicroRNA 4695	RNA Gene	7.59	GeneCards inferred via : Variants (show sections)
5	LOC440792	Proline Dehydrogenase 1 Pseudogene	Pseudogene	6.86	GeneCards inferred via : Publications (show sections)

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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	GRCh37	Chromosome 1, 19199327: 19199327
26	ALDH4A1	NM_003748.3(ALDH4A1): c.*12delG	deletion	Uncertain significance	rs774289867	GRCh38	Chromosome 1, 18872833: 18872833
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	GRCh37	Chromosome 1, 19199304: 19199304
32	ALDH4A1	NM_003748.3(ALDH4A1): c.*35C> T	single nucleotide variant	Uncertain significance	rs2230710	GRCh38	Chromosome 1, 18872810: 18872810
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.1230A> G (p.Ser410=)	single nucleotide variant	Benign	rs7550938	GRCh38	Chromosome 1, 18876423: 18876423
40	ALDH4A1	NM_003748.3(ALDH4A1): c.1681T> A (p.Tyr561Asn)	single nucleotide variant	Uncertain significance	rs528211463	GRCh37	Chromosome 1, 19199350: 19199350
41	ALDH4A1	NM_003748.3(ALDH4A1): c.1681T> A (p.Tyr561Asn)	single nucleotide variant	Uncertain significance	rs528211463	GRCh38	Chromosome 1, 18872856: 18872856
42	ALDH4A1	NM_003748.3(ALDH4A1): c.1221A> G (p.Ala407=)	single nucleotide variant	Benign	rs2230706	GRCh37	Chromosome 1, 19202926: 19202926
43	ALDH4A1	NM_003748.3(ALDH4A1): c.1221A> G (p.Ala407=)	single nucleotide variant	Benign	rs2230706	GRCh38	Chromosome 1, 18876432: 18876432
44	ALDH4A1	NM_003748.3(ALDH4A1): c.1082G> C (p.Trp361Ser)	single nucleotide variant	Uncertain significance	rs763793413	GRCh37	Chromosome 1, 19203965: 19203965
45	ALDH4A1	NM_003748.3(ALDH4A1): c.1082G> C (p.Trp361Ser)	single nucleotide variant	Uncertain significance	rs763793413	GRCh38	Chromosome 1, 18877471: 18877471
46	ALDH4A1	NM_003748.3(ALDH4A1): c.1377G> C (p.Pro459=)	single nucleotide variant	Uncertain significance	rs146222625	GRCh37	Chromosome 1, 19201959: 19201959
47	ALDH4A1	NM_003748.3(ALDH4A1): c.1377G> C (p.Pro459=)	single nucleotide variant	Uncertain significance	rs146222625	GRCh38	Chromosome 1, 18875465: 18875465
48	ALDH4A1	NM_003748.3(ALDH4A1): c.1230A> G (p.Ser410=)	single nucleotide variant	Benign	rs7550938	GRCh37	Chromosome 1, 19202917: 19202917
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

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Expression for Hyperprolinemia

Search GEO for disease gene expression data for Hyperprolinemia.

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Pathways for Hyperprolinemia

Pathways related to Hyperprolinemia according to KEGG:

³⁷

#	Name	Kegg Source Accession
1	Arginine and proline metabolism	hsa00330

Pathways related to Hyperprolinemia according to GeneCards Suite gene sharing:

#	Super pathways	Score	Top Affiliating Genes
1	Histidine, lysine, phenylalanine, tyrosine, proline and tryptophan catabolism ⁶⁶ Show member pathways 2-amino-3-carboxymuconate semialdehyde degradation to glutaryl-CoA ¹ 2-oxoglutarate decarboxylation to succinyl-CoA ¹ 4-hydroxybenzoate biosynthesis ¹ L-kynurenine degradation ¹ Lysine catabolism ⁶⁶ lysine degradation I (saccharopine pathway) ¹ Phenylalanine and tyrosine catabolism ⁶⁶ Proline catabolism ⁶⁶ proline degradation ¹ Tryptophan catabolism ⁶⁶ tryptophan degradation ¹ tryptophan degradation to 2-amino-3-carboxymuconate semialdehyde ¹ tyrosine degradation ¹	11.05	ALDH4A1 PRODH
2	Arginine and proline metabolism ³⁷ Show member pathways 4-hydroxyproline degradation ¹ Agmatine biosynthesis ⁶⁶ putrescine biosynthesis II ¹	10.38	ALDH4A1 PRODH

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GO Terms for Hyperprolinemia

Biological processes related to Hyperprolinemia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	proline catabolic process	GO:0006562	9.26	ALDH4A1 PRODH
2	4-hydroxyproline catabolic process	GO:0019470	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

Sources for Hyperprolinemia

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

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⁸ Cochrane Library

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¹⁰ dbSNP

¹¹ DGIdb

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¹⁶ DrugBank

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¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

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⁴⁸ NCBI Bookshelf

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia