MCID: HYP597
MIFTS: 22

Hyperprolinemia, Type Ii

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

Aliases & Classifications for Hyperprolinemia, Type Ii

MalaCards integrated aliases for Hyperprolinemia, Type Ii:

Name: Hyperprolinemia, Type Ii 57 13 55
Hyperprolinemia Type 2 53 59 73
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency 57 75
Hyrpro2 57 75
Hpii 57 75
1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency 53
Delta1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency 59
Hyperprolinemia Type Ii 75
Type 2 Hyperprolinemia 53
Hyperprolinemia 2 75

Characteristics:

Orphanet epidemiological data:

59
hyperprolinemia type 2
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
hyperprolinemia, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 239510
Orphanet 59 ORPHA79101
MESH via Orphanet 45 C538385
UMLS via Orphanet 74 C0268530 C2931835
ICD10 via Orphanet 34 E72.5
MedGen 42 C2931835
MeSH 44 D000592
UMLS 73 C2931835

Summaries for Hyperprolinemia, Type Ii

NIH Rare Diseases : 53 Hyperprolinemia type 2 results in 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. Hyperprolinemia type 2 causes proline levels in the blood to be 10 to 15 times higher than normal, and it also causes high levels of a related compound called pyrroline-5-carboxylate. Some people with this condition develop mild mental retardation and seizures; however, the symptoms of this disorder vary in severity among affected individuals.

MalaCards based summary : Hyperprolinemia, Type Ii, also known as hyperprolinemia type 2, is related to hyperprolinemia. An important gene associated with Hyperprolinemia, Type Ii is ALDH4A1 (Aldehyde Dehydrogenase 4 Family Member A1). Related phenotypes are intellectual disability and seizures

UniProtKB/Swiss-Prot : 75 Hyperprolinemia 2: An inborn error of proline metabolism resulting in elevated plasma levels of proline and delta-1-pyrroline-5-carboxylate (P5C). The condition is considered to be benign, but affected individuals can exhibit neurological manifestations that vary in severity. Clinical signs include seizures, intellectual deficit and mild developmental delay.

Description from OMIM: 239510

Related Diseases for Hyperprolinemia, Type Ii

Diseases in the Hyperprolinemia family:

Hyperprolinemia, Type I Hyperprolinemia, Type Ii

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

# Related Disease Score Top Affiliating Genes
1 hyperprolinemia 10.2

Symptoms & Phenotypes for Hyperprolinemia, Type Ii

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
recurrent seizures
mental retardation

Laboratory Abnormalities:
hyperprolinemia (10-15 times normal)
delta-1-pyrroline-5-carboxylate (p5c) levels increased in plasma
p5c levels increased in urine
delta-1-pyrroline-3-hydroxy-5-carboxylate levels increased in urine
aminoaciduria
more

Clinical features from OMIM:

239510

Human phenotypes related to Hyperprolinemia, Type Ii:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 seizures 32 HP:0001250
3 hydroxyprolinuria 32 HP:0003080
4 hyperglycinuria 32 HP:0003108
5 prolinuria 32 HP:0003137
6 hyperprolinemia 32 HP:0008358

Drugs & Therapeutics for Hyperprolinemia, Type Ii

Search Clinical Trials , NIH Clinical Center for Hyperprolinemia, Type Ii

Genetic Tests for Hyperprolinemia, Type Ii

Anatomical Context for Hyperprolinemia, Type Ii

Publications for Hyperprolinemia, Type Ii

Articles related to Hyperprolinemia, Type Ii:

# Title Authors Year
1
Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. ( 11134058 )
2001
2
Hyperprolinemia type II: evidence of the excretion of 3-hydroxy delta 1-pyrroline 5-carboxylic acid. ( 445797 )
1979
3
Hyperprolinemia type II: identification of the glycine conjugate of pyrrole-2-carboxylic acid in urine. ( 837521 )
1977
4
Hyperprolinemia type II. ( 4825691 )
1974

Variations for Hyperprolinemia, Type Ii

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

75
# Symbol AA change Variation ID SNP ID
1 ALDH4A1 p.Ser352Leu VAR_002260 rs137852937

ClinVar genetic disease variations for Hyperprolinemia, Type Ii:

6
(show all 34)
# Gene Variation Type Significance SNP ID Assembly Location
1 ALDH4A1 NM_003748.3(ALDH4A1): c.1560dupT (p.Gly521Trpfs) duplication Pathogenic rs779536510 GRCh37 Chromosome 1, 19200976: 19200976
2 ALDH4A1 NM_003748.3(ALDH4A1): c.1560dupT (p.Gly521Trpfs) duplication Pathogenic rs779536510 GRCh38 Chromosome 1, 18874482: 18874482
3 ALDH4A1 NM_170726.2(ALDH4A1): c.1055C> T (p.Ser352Leu) single nucleotide variant Pathogenic rs137852937 GRCh37 Chromosome 1, 19203992: 19203992
4 ALDH4A1 NM_170726.2(ALDH4A1): c.1055C> T (p.Ser352Leu) single nucleotide variant Pathogenic rs137852937 GRCh38 Chromosome 1, 18877498: 18877498
5 ALDH4A1 NM_170726.2(ALDH4A1): c.21delG (p.Leu8Serfs) deletion Pathogenic rs387906314 GRCh37 Chromosome 1, 19228997: 19228997
6 ALDH4A1 NM_170726.2(ALDH4A1): c.21delG (p.Leu8Serfs) deletion Pathogenic rs387906314 GRCh38 Chromosome 1, 18902503: 18902503
7 ALDH4A1 NM_003748.3(ALDH4A1): c.1631C> T (p.Pro544Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72953172 GRCh37 Chromosome 1, 19199400: 19199400
8 ALDH4A1 NM_003748.3(ALDH4A1): c.1631C> T (p.Pro544Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72953172 GRCh38 Chromosome 1, 18872906: 18872906
9 ALDH4A1 NM_003748.3(ALDH4A1): c.1098G> A (p.Gly366=) single nucleotide variant Conflicting interpretations of pathogenicity rs147471420 GRCh37 Chromosome 1, 19203949: 19203949
10 ALDH4A1 NM_003748.3(ALDH4A1): c.1098G> A (p.Gly366=) single nucleotide variant Conflicting interpretations of pathogenicity rs147471420 GRCh38 Chromosome 1, 18877455: 18877455
11 ALDH4A1 NM_003748.3(ALDH4A1): c.678+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138788183 GRCh38 Chromosome 1, 18883121: 18883121
12 ALDH4A1 NM_003748.3(ALDH4A1): c.678+3G> A single nucleotide variant Conflicting interpretations of pathogenicity rs138788183 GRCh37 Chromosome 1, 19209615: 19209615
13 ALDH4A1 NM_003748.3(ALDH4A1): c.1548C> T (p.Gly516=) single nucleotide variant Benign/Likely benign rs61749348 GRCh37 Chromosome 1, 19200988: 19200988
14 ALDH4A1 NM_003748.3(ALDH4A1): c.1548C> T (p.Gly516=) single nucleotide variant Benign/Likely benign rs61749348 GRCh38 Chromosome 1, 18874494: 18874494
15 ALDH4A1 NM_003748.3(ALDH4A1): c.1417A> G (p.Thr473Ala) single nucleotide variant Benign/Likely benign rs6695033 GRCh37 Chromosome 1, 19201919: 19201919
16 ALDH4A1 NM_003748.3(ALDH4A1): c.1417A> G (p.Thr473Ala) single nucleotide variant Benign/Likely benign rs6695033 GRCh38 Chromosome 1, 18875425: 18875425
17 ALDH4A1 NM_003748.3(ALDH4A1): c.1162T> C (p.Phe388Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41273175 GRCh37 Chromosome 1, 19203725: 19203725
18 ALDH4A1 NM_003748.3(ALDH4A1): c.1162T> C (p.Phe388Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41273175 GRCh38 Chromosome 1, 18877231: 18877231
19 ALDH4A1 NM_003748.3(ALDH4A1): c.1086G> C (p.Pro362=) single nucleotide variant Conflicting interpretations of pathogenicity rs41310410 GRCh37 Chromosome 1, 19203961: 19203961
20 ALDH4A1 NM_003748.3(ALDH4A1): c.1086G> C (p.Pro362=) single nucleotide variant Conflicting interpretations of pathogenicity rs41310410 GRCh38 Chromosome 1, 18877467: 18877467
21 ALDH4A1 NM_003748.3(ALDH4A1): c.413C> T (p.Pro138Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139640415 GRCh38 Chromosome 1, 18885513: 18885513
22 ALDH4A1 NM_003748.3(ALDH4A1): c.413C> T (p.Pro138Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs139640415 GRCh37 Chromosome 1, 19212007: 19212007
23 ALDH4A1 NM_170726.2(ALDH4A1): c.866+1G> A single nucleotide variant Pathogenic rs78532707 GRCh37 Chromosome 1, 19208193: 19208193
24 ALDH4A1 NM_170726.2(ALDH4A1): c.866+1G> A single nucleotide variant Pathogenic rs78532707 GRCh38 Chromosome 1, 18881699: 18881699
25 ALDH4A1 NM_003748.3(ALDH4A1): c.1439G> A (p.Gly480Glu) single nucleotide variant Uncertain significance rs762708368 GRCh37 Chromosome 1, 19201897: 19201897
26 ALDH4A1 NM_003748.3(ALDH4A1): c.1439G> A (p.Gly480Glu) single nucleotide variant Uncertain significance rs762708368 GRCh38 Chromosome 1, 18875403: 18875403
27 ALDH4A1 NM_003748.3(ALDH4A1): c.1272C> T (p.Ser424=) single nucleotide variant Likely benign rs370707645 GRCh38 Chromosome 1, 18876381: 18876381
28 ALDH4A1 NM_003748.3(ALDH4A1): c.1272C> T (p.Ser424=) single nucleotide variant Likely benign rs370707645 GRCh37 Chromosome 1, 19202875: 19202875
29 ALDH4A1 NM_003748.3(ALDH4A1): c.1583C> A (p.Thr528Asn) single nucleotide variant Benign rs61757683 GRCh37 Chromosome 1, 19199448: 19199448
30 ALDH4A1 NM_003748.3(ALDH4A1): c.1583C> A (p.Thr528Asn) single nucleotide variant Benign rs61757683 GRCh38 Chromosome 1, 18872954: 18872954
31 ALDH4A1 NM_003748.3(ALDH4A1): c.1086G> A (p.Pro362=) single nucleotide variant Benign rs41310410 GRCh38 Chromosome 1, 18877467: 18877467
32 ALDH4A1 NM_003748.3(ALDH4A1): c.1086G> A (p.Pro362=) single nucleotide variant Benign rs41310410 GRCh37 Chromosome 1, 19203961: 19203961
33 ALDH4A1 NM_003748.3(ALDH4A1): c.47C> T (p.Pro16Leu) single nucleotide variant Benign rs146450609 GRCh37 Chromosome 1, 19228971: 19228971
34 ALDH4A1 NM_003748.3(ALDH4A1): c.47C> T (p.Pro16Leu) single nucleotide variant Benign rs146450609 GRCh38 Chromosome 1, 18902477: 18902477

Expression for Hyperprolinemia, Type Ii

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

Pathways for Hyperprolinemia, Type Ii

GO Terms for Hyperprolinemia, Type Ii

Sources for Hyperprolinemia, Type Ii

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74 UMLS via Orphanet
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