HYPLYS1
MCID: HYP769
MIFTS: 36

Hyperlysinemia, Type I (HYPLYS1)

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

Aliases & Classifications for Hyperlysinemia, Type I

MalaCards integrated aliases for Hyperlysinemia, Type I:

Name: Hyperlysinemia, Type I 58 74
Hyperlysinemia 58 12 77 54 26 60 38 30 13 6 15 41
Lysine Intolerance 58 54 76 74
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 58 54 76
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 26 74
Alpha-Aminoadipic Semialdehyde Deficiency Disease 26 74
Lysine:alpha-Ketoglutarate Reductase Deficiency 58 76
Lysine Alpha-Ketoglutarate Reductase Deficiency 54 60
L-Lysine:nad-Oxido-Reductase Deficiency 58 76
Hyperlysinemia Type I 60 76
Saccharopinuria 26 74
Hyperlysinemias 45 74
Saccharopine Dehydrogenase Deficiency Disease 26
L-Lysine Nad-Oxido-Reductase Deficiency 54
Alpha-Aminoadipic Semialdehyde Synthase 13
Saccharopine Dehydrogenase Deficiency 74
Familial Hyperlysinemia 26
Hyperlysinemia, 1 76
Hyplys1 76

Characteristics:

Orphanet epidemiological data:

60
hyperlysinemia
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
onset in infancy
highly variable phenotype
may be benign condition
about 50% of mutation carriers are asymptomatic


HPO:

33
hyperlysinemia, type i:
Onset and clinical course phenotypic variability infantile onset
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Inborn errors of metabolism


Summaries for Hyperlysinemia, Type I

OMIM : 58 Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who present in infancy with nonspecific seizures, hypotonia, or mildly delayed psychomotor development have been found to have increased serum lysine and pipecolic acid on laboratory analysis. However, about 50% of probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant (summary by Tondo et al., 2013; Houten et al., 2013). The AASS gene encodes a bifunctional enzyme: lysine alpha-ketoglutarate reductase and saccharopine dehydrogenase. In hyperlysinemia type I, both enzymatic functions of AASS are defective; in hyperlysinemia type II, also known as saccharopinuria (268700), some of the first enzymatic function is retained (Cox, 1985; Cox et al., 1985). (238700)

MalaCards based summary : Hyperlysinemia, Type I, also known as hyperlysinemia, is related to 2,4-dienoyl-coa reductase deficiency and hyperlysinemia due to defect in lysine transport into mitochondria, and has symptoms including seizures An important gene associated with Hyperlysinemia, Type I is AASS (Aminoadipate-Semialdehyde Synthase), and among its related pathways/superpathways are Lysine degradation and Metabolism. Related phenotypes are intellectual disability and seizures

Disease Ontology : 12 An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.

Genetics Home Reference : 26 Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine, a building block of most proteins. Hyperlysinemia is caused by the shortage (deficiency) of the enzyme that breaks down lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. It is not clear whether these problems are due to hyperlysinemia or another cause.

NIH Rare Diseases : 54 Hyperlysinemia is an inherited condition characterized by elevated blood levels of the amino acid lysine. Hyperlysinemia typically causes no health problems, and most people with elevated lysine levels are unaware that they have this condition. Rarely, people with hyperlysinemia have intellectual disability or behavioral problems. Hyperlysinemia is caused by mutations in the AASS gene. It has an autosomal recessive pattern of inheritance.

UniProtKB/Swiss-Prot : 76 Hyperlysinemia, 1: An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant.

Wikipedia : 77 Hyperlysinemia is an autosomal recessivemetabolic disorder characterized by an abnormal increase of... more...

Related Diseases for Hyperlysinemia, Type I

Diseases in the Hyperlysinemia, Type I family:

Hyperlysinemia Due to Defect in Lysine Transport into Mitochondria

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

# Related Disease Score Top Affiliating Genes
1 2,4-dienoyl-coa reductase deficiency 31.9 AASS DECR1 NADK2
2 hyperlysinemia due to defect in lysine transport into mitochondria 12.1
3 saccharopinuria 11.9
4 hyperlysinuria with hyperammonemia 11.1
5 cystinuria 10.1
6 propionic acidemia 10.1
7 spastic paraparesis 10.1
8 methylmalonic acidemia 9.9

Graphical network of the top 20 diseases related to Hyperlysinemia, Type I:



Diseases related to Hyperlysinemia, Type I

Symptoms & Phenotypes for Hyperlysinemia, Type I

Human phenotypes related to Hyperlysinemia, Type I:

33 (show all 12)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 seizures 33 HP:0001250
3 muscular hypotonia 33 HP:0001252
4 delayed speech and language development 33 HP:0000750
5 cognitive impairment 33 HP:0100543
6 intellectual disability, mild 33 HP:0001256
7 anemia 33 HP:0001903
8 ectopia lentis 33 HP:0001083
9 hyperactivity 33 HP:0000752
10 abnormality of the genitourinary system 33 HP:0000119
11 short attention span 33 HP:0000736
12 hyperlysinemia 33 HP:0002161

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
seizures
cognitive impairment
mental retardation, mild
language delay
motor deficits

Laboratory Abnormalities:
increased serum, urinary, and csf lysine
increased plasma and urinary pipecolic acid
decreased plasma and urinary ornithine
increased serum, urinary, and csf saccharopine (in some patients)
lysine-ketoglutarate reductase deficiency
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
poor attention span

Clinical features from OMIM:

238700

UMLS symptoms related to Hyperlysinemia, Type I:


seizures

Drugs & Therapeutics for Hyperlysinemia, Type I

Search Clinical Trials , NIH Clinical Center for Hyperlysinemia, Type I

Cochrane evidence based reviews: hyperlysinemias

Genetic Tests for Hyperlysinemia, Type I

Genetic tests related to Hyperlysinemia, Type I:

# Genetic test Affiliating Genes
1 Hyperlysinemia 30

Anatomical Context for Hyperlysinemia, Type I

Publications for Hyperlysinemia, Type I

Articles related to Hyperlysinemia, Type I:

# Title Authors Year
1
Lysine intolerance in methylmalonic acidemia. ( 6770332 )
1980
2
Lysine intolerance in a variant form of citrullinemia. ( 503639 )
1979

Variations for Hyperlysinemia, Type I

ClinVar genetic disease variations for Hyperlysinemia, Type I:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 AASS NM_005763.3(AASS): c.1601_1609delGTAAACAAG (p.Cys534_Ala871delinsTer) deletion Pathogenic rs387906333 GRCh37 Chromosome 7, 121738550: 121738558
2 AASS NM_005763.3(AASS): c.1601_1609delGTAAACAAG (p.Cys534_Ala871delinsTer) deletion Pathogenic rs387906333 GRCh38 Chromosome 7, 122098496: 122098504
3 AASS NM_005763.3(AASS): c.2662+1_2662+5delGTAAGinsTT indel Pathogenic rs587777121 GRCh37 Chromosome 7, 121717887: 121717891
4 AASS NM_005763.3(AASS): c.2662+1_2662+5delGTAAGinsTT indel Pathogenic rs587777121 GRCh38 Chromosome 7, 122077833: 122077837
5 AASS NM_005763.3(AASS): c.874A> G (p.Ile292Val) single nucleotide variant Pathogenic rs587777122 GRCh37 Chromosome 7, 121756707: 121756707
6 AASS NM_005763.3(AASS): c.874A> G (p.Ile292Val) single nucleotide variant Pathogenic rs587777122 GRCh38 Chromosome 7, 122116653: 122116653
7 AASS NM_005763.3(AASS): c.976_977delCA (p.Gln326Glufs) deletion Pathogenic rs587777123 GRCh37 Chromosome 7, 121755194: 121755195
8 AASS NM_005763.3(AASS): c.976_977delCA (p.Gln326Glufs) deletion Pathogenic rs587777123 GRCh38 Chromosome 7, 122115140: 122115141
9 AASS NM_005763.3(AASS): c.1925C> G (p.Ser642Ter) single nucleotide variant Pathogenic rs587777124 GRCh37 Chromosome 7, 121731848: 121731848
10 AASS NM_005763.3(AASS): c.1925C> G (p.Ser642Ter) single nucleotide variant Pathogenic rs587777124 GRCh38 Chromosome 7, 122091794: 122091794
11 AASS NM_005763.3(AASS): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777125 GRCh37 Chromosome 7, 121773587: 121773587
12 AASS NM_005763.3(AASS): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777125 GRCh38 Chromosome 7, 122133533: 122133533
13 AASS NM_005763.3(AASS): c.1256T> G (p.Leu419Arg) single nucleotide variant Pathogenic rs587777126 GRCh37 Chromosome 7, 121753194: 121753194
14 AASS NM_005763.3(AASS): c.1256T> G (p.Leu419Arg) single nucleotide variant Pathogenic rs587777126 GRCh38 Chromosome 7, 122113140: 122113140

Expression for Hyperlysinemia, Type I

Search GEO for disease gene expression data for Hyperlysinemia, Type I.

Pathways for Hyperlysinemia, Type I

Pathways related to Hyperlysinemia, Type I according to KEGG:

38
# Name Kegg Source Accession
1 Lysine degradation hsa00310

GO Terms for Hyperlysinemia, Type I

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

# Name GO ID Score Top Affiliating Genes
1 mitochondrion GO:0005739 9.35 AASS DECR1 NADK2 OGDH PC
2 mitochondrial matrix GO:0005759 9.02 AASS DECR1 NADK2 OGDH PC

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

# Name GO ID Score Top Affiliating Genes
1 metabolic process GO:0008152 8.96 AASS PC
2 oxidation-reduction process GO:0055114 8.8 AASS DECR1 OGDH

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

# Name GO ID Score Top Affiliating Genes
1 oxidoreductase activity GO:0016491 8.8 AASS DECR1 OGDH

Sources for Hyperlysinemia, Type I

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
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