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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Amino Acid Metabolism, Inborn Errors (D000592)
..Starting node ..Hyperprolinemia (C538384)
Child Nodes:
Sister Nodes:
..2-Methylacetoacetyl CoA thiolase deficiency (C535307)
..2-Methylbutyryl-CoA Dehydrogenase Deficiency (C566487)
..3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency (C538324)
..3-Hydroxyisobutyric aciduria (C535312)
..5-oxoprolinase deficiency (C535322)
..Acidemia, isovaleric (C538167)
..Acyl-CoA Dehydrogenase Family, Member 9, Deficiency of (C567006)
..Adams Nance syndrome (C538224)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Albinism (D000417) 30
..Alkaptonuria (D000474)
..Alpha-ketoglutarate dehydrogenase deficiency (C536582)
..Amino Aciduria with Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, and Acidosis (C565960)
..Aminoacylase 1 deficiency (C538246)
..Arakawa syndrome 2 (C537426)
..Arginine:Glycine Amidinotransferase Deficiency (C567192)
..Aromatic amino acid decarboxylase deficiency (C537437)
..Beta ketothiolase deficiency (C535434)
..Beta-Aminoisobutyric Acid, Urinary Excretion of (C565904)
..Beta-Hydroxyisobutyryl CoA Deacylase Deficiency (C562803)
..Blue diaper syndrome (C536239)
..Camptodactyly taurinuria (C537972)
..Carboxypeptidase N Deficiency (C562876)
..Cystathionase Deficiency (C562680)
..Cysteine Peptiduria (C565659)
..Diaminopentanuria (C565630)
..Dibasic Amino Aciduria I (C567132)
..Dimethylglycine Dehydrogenase Deficiency (C565278)
..Gamma aminobutyric acid transaminase deficiency (C535407)
..Glucoglycinuria (C562670)
..Glutamate Monosodium Sensitivity (C562377)
..Glutamine deficiency, congenital (C536832)
..Glutaric aciduria 1 (C536833)
..Glutaric Aciduria III (C562818)
..Glutathione synthetase deficiency (C536835)
..Glutathionuria (C536836)
..Glycine N-Methyltransferase Deficiency (C564683)
..Glycinuria with or without Oxalate Urolithiasis (C563009)
..Histidinemia (C538320)
..Homocarnosinosis (C535328)
..Hydroxykynureninuria (C536081)
..Hydroxyprolinemia (C562669)
..Hyperglycinemia, Nonketotic (D020158) 1
..HYPERGLYCINURIA (OMIM:138500)
..Hyperhomocysteinemia (D020138) 8
..Hyperleucine-Isoleucinemia (C562674)
..Hyperlysinemias (D020167) 3
..Hypermethioninemia with Deficiency of S-Adenosylhomocysteine Hydrolase (C566700)
..Hyperprolinemia (C538384)
..Hyperprolinemia type 2 (C538385)
..Hypertaurinuric Cardiomyopathy (C564157)
..Hypertryptophanemia (C538393)
..Hypertryptophanemia, Familial (C563467)
..Ichthyosis, Split Hairs, and Amino Aciduria (C565471)
..Indolylacroyl Glycinuria with Mental Retardation (C565466)
..Isobutyryl-CoA dehydrogenase deficiency (C535541)
..Ketoadipicaciduria (C565453)
..Lysine Malabsorption Syndrome (C563080)
..Lysinuric Protein Intolerance (C562687)
..Maple Syrup Urine Disease (D008375) 5
..Mercaptolactate-Cysteine Disulfiduria (C563085)
..Methionine Adenosyltransferase Deficiency (C562681)
..Methionine Malabsorption Syndrome (C562682)
..Methylmalonate Semialdehyde Dehydrogenase Deficiency (C566402)
..Methylmalonic acidemia (C537358) 1
..Methylmalonic acidemia with homocystinuria (C537359)
..Methylmalonic Aciduria and Homocystinuria, CblD Type (C564743)
..Methylmalonic Aciduria and Homocystinuria, CblF Type (C564747)
..Methylmalonic aciduria cblA type (C537360)
..Methylmalonic aciduria cblB type (C537361)
..Methylmalonic Aciduria due to Methylmalonyl-CoA Mutase Deficiency (C565390)
..Methylmalonyl-CoA Epimerase Deficiency (C565386)
..Methylmalonyl-CoA Epimerase Deficiency with Sepiapterin Reductase Deficiency (C565387)
..MITOCHONDRIAL DNA DEPLETION SYNDROME 5 (ENCEPHALOMYOPATHIC WITH OR WITHOUT METHYLMALONIC ACIDURIA) (OMIM:612073)
..Multiple Acyl Coenzyme A Dehydrogenase Deficiency (D054069) 1
..Multiple Carboxylase Deficiency (D009100) 4
..Myopathy due to Malate-Aspartate Shuttle Defect (C564973)
..Phenylketonurias (D010661) 8
..Prolidase Deficiency (D056732)
..Propionic Acidemia (D056693) 1
..Richards-Rundle syndrome (C535674)
..Sarcosinemia (C537236)
..succinic semialdehyde dehydrogenase deficiency (C535803)
..Sulfite oxidase deficiency (C538141)
..Tiglic acidemia (C536921)
..Tryptophanuria With Dwarfism (C562658)
..Tyrosinemias (D020176) 1
..Tyrosinosis (C562659)
..Urea Cycle Disorders, Inborn (D056806) 16
..Urocanase deficiency (C536479)
..Valinemia (C536524)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

5471

Name:

Hyperprolinemia

Definition:

Alternative IDs:

OMIM:239500

ParentIDs:

MESH:D000592

TreeNumbers:

C16.320.565.100/C538384 |C18.452.648.100/C538384

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C538384
MeSH: C538384
OMIM: 239500;

Genes: PRODH;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000718	Aggressive behavior
3	HP:0002353	EEG abnormality
4	HP:0001290	Generalized hypotonia
5	HP:0001263	Global developmental delay
6	HP:0003080	Hydroxyprolinuria
7	HP:0000752	Hyperactivity
8	HP:0003108	Hyperglycinuria
9	HP:0008358	Hyperprolinemia
10	HP:0001252	Hypotonia
11	HP:0001249	Intellectual disability
12	HP:0003812	Phenotypic variability
13	HP:0003137	Prolinuria
14	HP:0002133	Status epilepticus
15	HP:0000733	Stereotypy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NC_000022.11:g.(?_18906222)_(18936553_?)del	-1	-	Pathogenic;risk factor	-1	RCV000004212; RCV000004213;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003; MedGen:C1833247,OMIM:600850	22	18893735	18924066	-	-		OMIM Allelic Variant:606810.0001,dbVar:nssv7487156,dbVar:nsv1197561	C0268529 239500 Proline dehydrogenase deficiency; C1833247 600850 Schizophrenia 4
NM_016335.4(PRODH):c.1562A>G (p.Gln521Arg)	5625	PRODH	Pathogenic;risk factor	450046	RCV000004222; RCV000004223; RCV000115065;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003; MedGen:C1833247,OMIM:600850; MedGen:CN221809	22	18901004	18901004	NM_016335.4:c.1562A>G	NP_057419.4:p.Gln521Arg	NC_000022.10:g.18901004Cx3d	OMIM Allelic Variant:606810.0006	CN221809 not provided; C0268529 239500 Proline dehydrogenase deficiency; C1833247 600850 Schizophrenia 4
NM_016335.4(PRODH):c.1561C>G (p.Gln521Glu)	5625	PRODH	Pathogenic	193919334	RCV000004226;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003	22	18901005	18901005	NM_016335.4:c.1561C>G	NP_057419.4:p.Gln521Glu	NC_000022.10:g.18901005G>C	OMIM Allelic Variant:606810.0008	C0268529 239500 Proline dehydrogenase deficiency
NM_016335.4(PRODH):c.1397C>T (p.Thr466Met)	5625	PRODH	risk factor	2870984	RCV000004227; RCV000004228;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003; MedGen:C1833247,OMIM:600850	22	18905859	18905859	NM_016335.4:c.1397C>T	NP_057419.4:p.Thr466Met	NC_000022.10:g.18905859G>A	OMIM Allelic Variant:606810.0009	C0268529 239500 Proline dehydrogenase deficiency; C1833247 600850 Schizophrenia 4
NM_016335.4(PRODH):c.1363G>T (p.Ala455Ser)	5625	PRODH	Pathogenic;risk factor	1807467	RCV000004220; RCV000004221;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003; MedGen:C1833247,OMIM:600850	22	18905893	18905893	NM_016335.4:c.1363G>T	NP_057419.4:p.Ala455Ser	NC_000022.10:g.18905893C>A	OMIM Allelic Variant:606810.0005	C0268529 239500 Proline dehydrogenase deficiency; C1833247 600850 Schizophrenia 4
NM_016335.4(PRODH):c.1357C>T (p.Arg453Cys)	5625	PRODH	Pathogenic;risk factor	3970559	RCV000004214; RCV000004215;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003; MedGen:C1833247,OMIM:600850	22	18905899	18905899	NM_016335.4:c.1357C>T	NP_057419.4:p.Arg453Cys	NC_000022.10:g.18905899G>A	OMIM Allelic Variant:606810.0002	C0268529 239500 Proline dehydrogenase deficiency; C1833247 600850 Schizophrenia 4
NM_016335.4(PRODH):c.1322T>C (p.Leu441Pro)	5625	PRODH	Pathogenic;risk factor	2904551	RCV000004218; RCV000004219;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003; MedGen:C1833247,OMIM:600850	22	18905934	18905934	NM_016335.4:c.1322T>C	NP_057419.4:p.Leu441Pro	NC_000022.10:g.18905934A>G	OMIM Allelic Variant:606810.0004	C0268529 239500 Proline dehydrogenase deficiency; C1833247 600850 Schizophrenia 4
NM_016335.4(PRODH):c.1292G>A (p.Arg431His)	5625	PRODH	Pathogenic;risk factor	2904552	RCV000004224; RCV000004225;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003; MedGen:C1833247,OMIM:600850	22	18905964	18905964	NM_016335.4:c.1292G>A	NP_057419.4:p.Arg431His	NC_000022.10:g.18905964C>T	OMIM Allelic Variant:606810.0007	C0268529 239500 Proline dehydrogenase deficiency; C1833247 600850 Schizophrenia 4
NM_016335.4(PRODH):c.865T>A (p.Leu289Met)	5625	PRODH	Pathogenic;risk factor	137852934	RCV000004216; RCV000004217;	N	MedGen:C0268529,OMIM:239500,ORPHA:419,SNOMED CT:61071003; MedGen:C1833247,OMIM:600850	22	18909902	18909902	NM_016335.4:c.865T>A	NP_057419.4:p.Leu289Met	NC_000022.10:g.18909902A>T	OMIM Allelic Variant:606810.0003	C0268529 239500 Proline dehydrogenase deficiency; C1833247 600850 Schizophrenia 4