MCID: HYP036
MIFTS: 47

Hyperlysinemia malady

Genetic diseases, Rare diseases categories
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Summaries for Hyperlysinemia

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Sources:
8Disease Ontology, 21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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.

MalaCards: Hyperlysinemia, also known as lysine alpha-ketoglutarate reductase deficiency disease, is related to citrullinemia and methylmalonic acidemia. An important gene associated with Hyperlysinemia is AASS (aminoadipate-semialdehyde synthase), and among its related pathways are lysine degradation II and Metabolism of amino acids and derivatives. The compounds saccharopine and nad have been mentioned in the context of this disorder.

Disease Ontology:8 An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.

NIH Rare Diseases:43 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. last updated: 1/28/2013

Wikipedia:65 Hyperlysinemia is an autosomal recessivemetabolic disorder characterized by an abnormal increase of... more...

Description from OMIM:47 238700,238710

Aliases & Classifications for Hyperlysinemia

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8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 47OMIM, 10DISEASES, 49Orphanet, 62UMLS, 58SNOMED-CT, 35MeSH, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 36MESH via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


Characteristics (Orphanet epidemiological data):

49
hyperlysinemia:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

hyperlysinemia 8 9 43 20 22 21 47 10 49
lysine alpha-ketoglutarate reductase deficiency disease 21 62
alpha-aminoadipic semialdehyde deficiency disease 21 62
lysine alpha-ketoglutarate reductase deficiency 43 49
lysine intolerance 43 62
alpha-aminoadipic semialdehyde synthase deficiency 43
saccharopine dehydrogenase deficiency disease 21
l-lysine nad-oxido-reductase deficiency 43
saccharopine dehydrogenase deficiency 62
familial hyperlysinemia 21
hyperlysinemia type i 49
hyperlysinemias 62
saccharopinuria 21


External Ids:

Disease Ontology8 DOID:9274
MeSH35 D020167
ICD10 via Orphanet26 E72.3
SNOMED-CT58 58558003
SNOMED-CT via Orphanet59 58558003
UMLS via Orphanet63 C0268553, C0936256
MESH via Orphanet36 D020167

Related Diseases for Hyperlysinemia

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17GeneCards, 18GeneDecks
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Diseases related to Hyperlysinemia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1citrullinemia30.3OTC
2methylmalonic acidemia30.2PC, OTC
3cystinuria30.0SCCPDH, OTC
4saccharopinuria10.5
5propionic acidemia10.0
6spastic paraparesis10.0
7spasticity10.0
8multiple carboxylase deficiency10.0PC, OTC
9reye syndrome10.0OTC, PC
10metabolic syndrome x10.0PC, OTC
11hyperammonemia multi-gene panels10.0PC, OTC
12brain disease10.0OTC, PC

Graphical network of diseases related to Hyperlysinemia:



Diseases related to hyperlysinemia

Symptoms for Hyperlysinemia

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47OMIM
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Symptoms by clinical synopsis from OMIM:

238700

Clinical features from OMIM:

238700,238710

Drugs & Therapeutics for Hyperlysinemia

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Hyperlysinemia

Search NIH Clinical Center for Hyperlysinemia

Genetic Tests for Hyperlysinemia

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20GeneTests, 22GTR
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Genetic tests related to Hyperlysinemia:

id Genetic test Affiliating Genes
1 Hyperlysinemia20 22 AASS

Anatomical Context for Hyperlysinemia

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Animal Models for Hyperlysinemia or affiliated genes

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Publications for Hyperlysinemia

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Sources:
52PubMed
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Articles related to Hyperlysinemia:

(show all 22)
idTitleAuthorsYear
1
Genetic basis of hyperlysinemia. (23570448)
2013
2
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. (10775527)
2000
3
Familial hyperlysinemia in a patient presenting with progressive spastic paraparesis. (8797497)
1996
4
Hyperlysinemia and hyperammonemia]. (1904697)
1991
5
The prognosis of hyperlysinemia: an interim report. (6407303)
1983
6
Hyperlysinemia without clinical findings. (6798824)
1981
7
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. (571908)
1979
8
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. (463877)
1979
9
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities. (904980)
1977
10
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. (977722)
1976
11
Multiple enzyme defects in familial hyperlysinemia. (934735)
1976
12
Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria. (982431)
1976
13
Effects of experimentally induced hyperlysinemia on maze learning in mice. (4795484)
1973
14
Excretion of hypusine by children and by patients with familial hyperlysinemia. (4753051)
1973
15
Ocular manifestations of familial hyperlysinemia. (5557172)
1971
16
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency. (5796356)
1969
17
Paths of lysine degradation in patients with hyperlysinemia. (6074139)
1967
18
Further studies on hyperlysinemia associated with retardation. (6015892)
1967
19
A case of hyperlysinemia: biochemical and clinical observations. (6022933)
1967
20
Further studies of hyperlysinemia. (5928822)
1966
21
Hyperlysinemia associated with retardation. (5825685)
1965
22
HYPERLYSINEMIA. (14209691)
1964

Variations for Hyperlysinemia

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Hyperlysinemia:

1
id Gene Name Type Significance SNP ID Assembly Location
1AASSNM_005763.3(AASS): c.2662+1_2662+5delGTAAGinsTTindelPathogenic/card/hyperlysinemiaGRCh37Chr 7, 121717887: 121717891
2AASSNM_005763.3(AASS): c.874A> G (p.Ile292Val)single nucleotide variantPathogenic/card/hyperlysinemiaGRCh37Chr 7, 121756707: 121756707
3AASSNM_005763.3(AASS): c.976_977delCA (p.Gln326Glufs)deletionPathogenic/card/hyperlysinemiaGRCh37Chr 7, 121755194: 121755195
4AASSNM_005763.3(AASS): c.1925C> G (p.Ser642Ter)single nucleotide variantPathogenic/card/hyperlysinemiaGRCh37Chr 7, 121731848: 121731848
5AASSNM_005763.3(AASS): c.194G> A (p.Arg65Gln)single nucleotide variantPathogenic/card/hyperlysinemiaGRCh37Chr 7, 121773587: 121773587
6AASSNM_005763.3(AASS): c.1256T> G (p.Leu419Arg)single nucleotide variantPathogenic/card/hyperlysinemiaGRCh37Chr 7, 121753194: 121753194
7AASSNM_005763.3(AASS): c.1601_1609delGTAAACAAG (p.Cys534Ter)deletionPathogenicrs387906333GRCh37Chr 7, 121738550: 121738558

Expression for genes affiliated with Hyperlysinemia

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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hyperlysinemia

Search GEO for disease gene expression data for Hyperlysinemia.

Pathways for genes affiliated with Hyperlysinemia

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Sources:
50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG, 51PharmGKB
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Pathways related to Hyperlysinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4AASS, SCCPDH
2
Show member pathways
creatine-phosphate biosynthesis38
glycine degradation (creatine biosynthesis)38
putrescine biosynthesis III38
spermidine biosynthesis I38
tryptophan degradation via kynurenine38
spermine biosynthesis38
urea cycle38
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I38
tyrosine degradation I38
L-carnitine biosynthesis38
methylthiopropionate biosynthesis38
2-oxoglutarate decarboxylation to succinyl-CoA38
S-methyl-5-thioadenosine degradation II38
9.3OTC, AASS
3
Show member pathways
L-serine degradation38
pentose phosphate pathway (oxidative branch)38
formaldehyde oxidation II (glutathione-dependent)38
9.0OTC, PC
4
Show member pathways
8.5OTC, PC, AASS

Compounds for genes affiliated with Hyperlysinemia

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45Novoseek, 24HMDB, 29IUPHAR, 11DrugBank, 51PharmGKB
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Compounds related to Hyperlysinemia according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1saccharopine45 2410.8AASS, SCCPDH
2nad29 2410.5AASS, SCCPDH
3fructose45 1110.5PC, AASS
4alpha-ketoglutarate459.4PC, AASS
5phenylacetic acid51 45 2411.4OTC, PC
6carbamoyl phosphate459.4PC, OTC
7citrulline45 2410.4OTC, PC
8malate459.3PC, OTC
9phosphoenolpyruvate45 1110.3OTC, PC
10carnitine459.3OTC, PC
11acyl-coa459.3OTC, PC
12ornithine45 2410.3OTC, PC
13urea45 24 1111.2OTC, PC
14glycerol45 24 1111.2OTC, PC
15pyruvate459.2PC, OTC
16nadph45 2410.1AASS, PC
17Phosphate249.1OTC, PC
18lactate459.0OTC, PC
19nadh45 24 1111.0PC, AASS, SCCPDH
20glutamine458.9OTC, PC
21glycogen45 249.9OTC, PC, AASS
22lysine458.8AASS, PC, OTC
23aspartate458.8OTC, PC, AASS
24glutamate458.8AASS, PC, OTC
25atp45 299.7AASS, PC, OTC
26fatty acid458.7OTC, PC

GO Terms for genes affiliated with Hyperlysinemia

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16Gene Ontology
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Cellular components related to Hyperlysinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:0057439.0OTC, PC
2mitochondrial matrixGO:0057598.2OTC, PC, AASS
3mitochondrionGO:0057397.9OTC, PC, AASS, SCCPDH

Biological processes related to Hyperlysinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1cellular nitrogen compound metabolic processGO:0346419.0OTC, AASS
2small molecule metabolic processGO:0442818.5OTC, PC, AASS

Products for genes affiliated with Hyperlysinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperlysinemia

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet