MCID: HYP036
MIFTS: 47

Hyperlysinemia malady

Genetic diseases, Rare diseases categories

Summaries for Hyperlysinemia

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9Disease Ontology, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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

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

Wikipedia:66 Hyperlysinemia is an autosomal recessivemetabolic disorder characterized by an abnormal increase of... more...

Description from OMIM:48 238700,238710

Aliases & Classifications for Hyperlysinemia

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9Disease Ontology, 10diseasecard, 44NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 48OMIM, 11DISEASES, 50Orphanet, 63UMLS, 59SNOMED-CT, 36MeSH, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet, 37MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

50
hyperlysinemia:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

hyperlysinemia 9 10 44 21 23 22 48 11 50
lysine alpha-ketoglutarate reductase deficiency disease 22 63
alpha-aminoadipic semialdehyde deficiency disease 22 63
lysine alpha-ketoglutarate reductase deficiency 44 50
lysine intolerance 44 63
alpha-aminoadipic semialdehyde synthase deficiency 44
saccharopine dehydrogenase deficiency disease 22
l-lysine nad-oxido-reductase deficiency 44
saccharopine dehydrogenase deficiency 63
familial hyperlysinemia 22
hyperlysinemia type i 50
hyperlysinemias 63
saccharopinuria 22


External Ids:

Disease Ontology9 DOID:9274
MeSH36 D020167
ICD10 via Orphanet27 E72.3
SNOMED-CT59 58558003
SNOMED-CT via Orphanet60 58558003
UMLS via Orphanet64 C0268553, C0936256
MESH via Orphanet37 D020167

Related Diseases for Hyperlysinemia

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18GeneCards, 19GeneDecks
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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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48OMIM
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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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

Search CenterWatch for Hyperlysinemia

Drug clinical trials:

Search ClinicalTrials for Hyperlysinemia

Search NIH Clinical Center for Hyperlysinemia

Search CenterWatch for Hyperlysinemia

Genetic Tests for Hyperlysinemia

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21GeneTests, 23GTR
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Genetic tests related to Hyperlysinemia:

id Genetic test Affiliating Genes
1 Hyperlysinemia21 23 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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53PubMed
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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, 16Gene 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:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG, 52PharmGKB
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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 biosynthesis39
glycine degradation (creatine biosynthesis)39
putrescine biosynthesis III39
spermidine biosynthesis I39
tryptophan degradation via kynurenine39
spermine biosynthesis39
urea cycle39
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I39
tyrosine degradation I39
L-carnitine biosynthesis39
methylthiopropionate biosynthesis39
2-oxoglutarate decarboxylation to succinyl-CoA39
S-methyl-5-thioadenosine degradation II39
9.3OTC, AASS
3
Show member pathways
L-serine degradation39
pentose phosphate pathway (oxidative branch)39
formaldehyde oxidation II (glutathione-dependent)39
9.0OTC, PC
4
Show member pathways
8.5OTC, PC, AASS

Compounds for genes affiliated with Hyperlysinemia

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank, 52PharmGKB
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Compounds related to Hyperlysinemia according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1saccharopine46 2510.8AASS, SCCPDH
2nad30 2510.5AASS, SCCPDH
3fructose46 1210.5PC, AASS
4alpha-ketoglutarate469.4PC, AASS
5phenylacetic acid52 46 2511.4OTC, PC
6carbamoyl phosphate469.4PC, OTC
7citrulline46 2510.4OTC, PC
8malate469.3PC, OTC
9phosphoenolpyruvate46 1210.3OTC, PC
10carnitine469.3OTC, PC
11acyl-coa469.3OTC, PC
12ornithine46 2510.3OTC, PC
13urea46 25 1211.2OTC, PC
14glycerol46 25 1211.2OTC, PC
15pyruvate469.2PC, OTC
16nadph46 2510.1AASS, PC
17Phosphate259.1OTC, PC
18lactate469.0OTC, PC
19nadh46 25 1211.0PC, AASS, SCCPDH
20glutamine468.9OTC, PC
21glycogen46 259.9OTC, PC, AASS
22lysine468.8AASS, PC, OTC
23aspartate468.8OTC, PC, AASS
24glutamate468.8AASS, PC, OTC
25atp46 309.7AASS, PC, OTC
26fatty acid468.7OTC, PC

GO Terms for genes affiliated with Hyperlysinemia

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17Gene 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
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet