MCID: HYP036
MIFTS: 48

Hyperlysinemia malady

Metabolic diseases, Genetic diseases categories

Summaries for Hyperlysinemia

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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 glutamate degradation X. The compounds saccharopine and fructose 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:42 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:63 Hyperlysinemia is an autosomal recessivemetabolic disorder characterized by an abnormal increase of... more...

Description from OMIM:46 238700,238710

Aliases & Classifications for Hyperlysinemia

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8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 10DISEASES, 48Orphanet, 60UMLS, 56SNOMED-CT, 34MeSH, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 35MESH via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
hyperlysinemia:
Inheritance: Autosomal recessive; Age of onset: Variable; Age of death: Any age


Aliases & Descriptions:

hyperlysinemia 8 9 42 20 22 21 46 10 48
lysine alpha-ketoglutarate reductase deficiency disease 21 60
alpha-aminoadipic semialdehyde deficiency disease 21 60
lysine alpha-ketoglutarate reductase deficiency 42 48
lysine intolerance 42 60
alpha-aminoadipic semialdehyde synthase deficiency 42
saccharopine dehydrogenase deficiency disease 21
l-lysine nad-oxido-reductase deficiency 42
saccharopine dehydrogenase deficiency 60
familial hyperlysinemia 21
hyperlysinemia type i 48
saccharopinuria 21
hyperlysinemias 60


External Ids:

Disease Ontology8 DOID:9274
MeSH34 D020167
ICD10 via Orphanet26 E72.3
SNOMED-CT56 58558003
SNOMED-CT via Orphanet57 58558003
UMLS via Orphanet61 C0268553, C0936256
MESH via Orphanet35 D020167

Related Diseases for Hyperlysinemia

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17GeneCards, 18GeneDecks
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Graphical network of diseases related to Hyperlysinemia:



Diseases related to hyperlysinemia

Clinical Features for Hyperlysinemia

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Sources:
46OMIM
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Clinical features from OMIM:

238700,238710

Clinical synopsis from OMIM:

238700

Drugs & Therapeutics for Hyperlysinemia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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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:
50PubMed
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Articles related to Hyperlysinemia:

(show all 23)
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
Excretion of pipecolic acid by infants and by patients with hyperlysinemia. (5417004)
1970
17
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency. (5796356)
1969
18
Paths of lysine degradation in patients with hyperlysinemia. (6074139)
1967
19
Further studies on hyperlysinemia associated with retardation. (6015892)
1967
20
A case of hyperlysinemia: biochemical and clinical observations. (6022933)
1967
21
Further studies of hyperlysinemia. (5928822)
1966
22
Hyperlysinemia associated with retardation. (5825685)
1965
23
HYPERLYSINEMIA. (14209691)
1964

Genetic Variations for Hyperlysinemia

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Expression for genes affiliated with Hyperlysinemia

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1BioGPS, 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:
37NCBI BioSystems Database, 53Reactome, 29KEGG
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Pathways related to Hyperlysinemia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.5AASS, SCCPDH
2
Hide members
9.1ASS1, OTC
3
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9.1ASS1, OTC
49.0PC, ASS1
58.7ASS1, AASS, OTC
6
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8.7ASS1, AASS, OTC
7
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8.5ASS1, OTC, PC

Compounds for genes affiliated with Hyperlysinemia

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44Novoseek, 24HMDB, 11DrugBank, 49PharmGKB, 2BitterDB, 28IUPHAR
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Compounds related to Hyperlysinemia according to GeneCards/GeneDecks:

(show all 25)
idCompoundScoreTop Affiliating Genes
1saccharopine44 2410.8AASS, SCCPDH
2fructose44 1110.5AASS, PC
3delta(1)pyrroline-5-carboxylate449.4OTC, ASS1
4sodium benzoate49 210.4OTC, ASS1
5l-citrulline28 1110.4ASS1, OTC
6alpha-ketoglutarate449.4PC, AASS
7malate449.4OTC, PC
8ammonium449.4ASS1, OTC
9glycerol44 11 2411.3OTC, PC
10carnitine449.2OTC, PC
11glycogen44 2410.1AASS, OTC, PC
12acyl-coa449.0OTC, PC
13lysine449.0AASS, OTC, PC
14phenylacetic acid49 44 2410.9ASS1, OTC, PC
15carbamoyl phosphate448.9PC, OTC, ASS1
16citrulline44 249.9ASS1, OTC, PC
17phosphoenolpyruvate44 119.8ASS1, OTC, PC
18ornithine44 249.8ASS1, OTC, PC
19urea44 11 2410.8ASS1, OTC, PC
20pyruvate448.8ASS1, OTC, PC
21nadph44 249.8PC, AASS, ASS1
22nadh44 11 2410.4SCCPDH, PC, AASS, ASS1
23aspartate448.4PC, OTC, AASS, ASS1
24glutamate448.3PC, OTC, AASS, ASS1
25atp44 289.3PC, OTC, AASS, ASS1

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 matrixGO:0057598.6AASS, OTC, PC
2mitochondrionGO:0057398.4AASS, OTC, PC, SCCPDH

Biological processes related to Hyperlysinemia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1arginine biosynthetic processGO:0065269.1ASS1, OTC
2urea cycleGO:0000509.0ASS1, OTC
3cellular nitrogen compound metabolic processGO:0346418.4OTC, AASS, ASS1
4small molecule metabolic processGO:0442818.1ASS1, AASS, OTC, PC

Products for genes affiliated with Hyperlysinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hyperlysinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet