HYRPRO2
MCID: HYP597
MIFTS: 23

Hyperprolinemia, Type Ii (HYRPRO2)

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

Aliases & Classifications for Hyperprolinemia, Type Ii

MalaCards integrated aliases for Hyperprolinemia, Type Ii:

Name: Hyperprolinemia, Type Ii 58 13 56
Hyperprolinemia Type 2 54 60 74
1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency 58 76
Hyrpro2 58 76
Hpii 58 76
Delta-1-Pyrroline-5-Carboxylate Dehydrogenase Deficiency 60
1 Alpha Pyrroline-5-Carboxylate Dehydrogenase Deficiency 54
Hyperprolinemia Type Ii 76
Type 2 Hyperprolinemia 54
Hyperprolinemia 2 76

Characteristics:

Orphanet epidemiological data:

60
hyperprolinemia type 2
Inheritance: Autosomal recessive; Age of onset: All ages;

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hyperprolinemia, type ii:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 239510
MeSH 45 D000592
MESH via Orphanet 46 C538385
ICD10 via Orphanet 35 E72.5
UMLS via Orphanet 75 C0268530 C2931835
Orphanet 60 ORPHA79101
MedGen 43 C2931835
UMLS 74 C2931835

Summaries for Hyperprolinemia, Type Ii

NIH Rare Diseases : 54 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 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency and 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 : 76 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 delta-1-pyrroline-5-carboxylate dehydrogenase deficiency 12.4
2 hyperprolinemia 10.3

Symptoms & Phenotypes for Hyperprolinemia, Type Ii

Human phenotypes related to Hyperprolinemia, Type Ii:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 prolinuria 33 HP:0003137
4 hyperprolinemia 33 HP:0008358
5 hyperglycinuria 33 HP:0003108
6 hydroxyprolinuria 33 HP:0003080

Symptoms via clinical synopsis from OMIM:

58
Laboratory Abnormalities:
aminoaciduria
prolinuria
hydroxyprolinuria
glycinuria
hyperprolinemia (10-15 times normal)
more
Neurologic Central Nervous System:
mental retardation
recurrent seizures

Clinical features from OMIM:

239510

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:

76
# 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 36)
# 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 GRCh38 Chromosome 1, 18872906: 18872906
8 ALDH4A1 NM_003748.3(ALDH4A1): c.1631C> T (p.Pro544Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs72953172 GRCh37 Chromosome 1, 19199400: 19199400
9 ALDH4A1 NM_003748.3(ALDH4A1): c.1098G> A (p.Gly366=) single nucleotide variant Conflicting interpretations of pathogenicity rs147471420 GRCh38 Chromosome 1, 18877455: 18877455
10 ALDH4A1 NM_003748.3(ALDH4A1): c.1098G> A (p.Gly366=) single nucleotide variant Conflicting interpretations of pathogenicity rs147471420 GRCh37 Chromosome 1, 19203949: 19203949
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 GRCh38 Chromosome 1, 18874494: 18874494
14 ALDH4A1 NM_003748.3(ALDH4A1): c.1548C> T (p.Gly516=) single nucleotide variant Benign/Likely benign rs61749348 GRCh37 Chromosome 1, 19200988: 19200988
15 ALDH4A1 NM_003748.3(ALDH4A1): c.1417A> G (p.Thr473Ala) single nucleotide variant Benign/Likely benign rs6695033 GRCh38 Chromosome 1, 18875425: 18875425
16 ALDH4A1 NM_003748.3(ALDH4A1): c.1417A> G (p.Thr473Ala) single nucleotide variant Benign/Likely benign rs6695033 GRCh37 Chromosome 1, 19201919: 19201919
17 ALDH4A1 NM_003748.3(ALDH4A1): c.1162T> C (p.Phe388Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41273175 GRCh38 Chromosome 1, 18877231: 18877231
18 ALDH4A1 NM_003748.3(ALDH4A1): c.1162T> C (p.Phe388Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs41273175 GRCh37 Chromosome 1, 19203725: 19203725
19 ALDH4A1 NM_003748.3(ALDH4A1): c.1086G> C (p.Pro362=) single nucleotide variant Conflicting interpretations of pathogenicity rs41310410 GRCh38 Chromosome 1, 18877467: 18877467
20 ALDH4A1 NM_003748.3(ALDH4A1): c.1086G> C (p.Pro362=) single nucleotide variant Conflicting interpretations of pathogenicity rs41310410 GRCh37 Chromosome 1, 19203961: 19203961
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_003748.3(ALDH4A1): c.866+1G> A single nucleotide variant Likely pathogenic rs78532707 GRCh37 Chromosome 1, 19208193: 19208193
24 ALDH4A1 NM_003748.3(ALDH4A1): c.866+1G> A single nucleotide variant Likely pathogenic rs78532707 GRCh38 Chromosome 1, 18881699: 18881699
25 ALDH4A1 NM_003748.3(ALDH4A1): c.1439G> A (p.Gly480Glu) single nucleotide variant Uncertain significance rs762708368 GRCh38 Chromosome 1, 18875403: 18875403
26 ALDH4A1 NM_003748.3(ALDH4A1): c.1439G> A (p.Gly480Glu) single nucleotide variant Uncertain significance rs762708368 GRCh37 Chromosome 1, 19201897: 19201897
27 ALDH4A1 NM_003748.3(ALDH4A1): c.1272C> T (p.Ser424=) single nucleotide variant Likely benign rs370707645 GRCh37 Chromosome 1, 19202875: 19202875
28 ALDH4A1 NM_003748.3(ALDH4A1): c.1272C> T (p.Ser424=) single nucleotide variant Likely benign rs370707645 GRCh38 Chromosome 1, 18876381: 18876381
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 GRCh38 Chromosome 1, 18902477: 18902477
34 ALDH4A1 NM_003748.3(ALDH4A1): c.47C> T (p.Pro16Leu) single nucleotide variant Benign rs146450609 GRCh37 Chromosome 1, 19228971: 19228971
35 ALDH4A1 NM_003748.3(ALDH4A1): c.298-1G> C single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 19212123: 19212123
36 ALDH4A1 NM_003748.3(ALDH4A1): c.298-1G> C single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 18885629: 18885629

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....