MCID: HYP036
MIFTS: 44

Hyperlysinemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Hyperlysinemia

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OMIM:45 Hyperlysinemia type I is an autosomal recessive metabolic condition with variable clinical features. Some patients who... (238700) more...

MalaCards based summary: Hyperlysinemia, also known as lysine alpha-ketoglutarate reductase deficiency disease, is related to citrullinemia and methylmalonic acidemia, and has symptoms including autosomal recessive inheritance, abnormality of the genitourinary system and short attention span. 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.

NIH Rare Diseases:41 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

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.

Wikipedia:63 Hyperlysinemia is an autosomal recessivemetabolic disorder characterized by an abnormal increase of... more...

Aliases & Classifications for Hyperlysinemia

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Sources:
45OMIM, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hyperlysinemia, Aliases & Descriptions:

Name: Hyperlysinemia 45 9 10 41 20 21 11 47 22
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 21 60
Alpha-Aminoadipic Semialdehyde Deficiency Disease 21 60
Lysine Alpha-Ketoglutarate Reductase Deficiency 41 47
Hyperlysinemia Type I 41 47
Lysine Intolerance 41 60
Saccharopinuria 21 60
 
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 41
Saccharopine Dehydrogenase Deficiency Disease 21
L-Lysine Nad-Oxido-Reductase Deficiency 41
Saccharopine Dehydrogenase Deficiency 60
Familial Hyperlysinemia 21
Hyperlysinemias 60


Classifications:



Characteristics (Orphanet epidemiological data):

47
hyperlysinemia:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age


External Ids:

OMIM45 238700
Disease Ontology9 DOID:9274
MeSH33 D020167
Orphanet47 2203
SNOMED-CT55 58558003
MESH via Orphanet34 D020167
ICD10 via Orphanet26 E72.3
UMLS via Orphanet61 C0268553, C0936256

Related Diseases for Hyperlysinemia

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

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1citrullinemia30.6OTC
2methylmalonic acidemia30.2OTC, PC
3cystinuria29.8OTC, SCCPDH
4saccharopinuria10.5
52,4-dienoyl-coa reductase deficiency10.0
6spastic paraparesis10.0
7spasticity10.0
8multiple carboxylase deficiency10.0OTC, PC
9reye syndrome10.0PC, OTC
10metabolic syndrome x10.0OTC, PC
11hyperammonemia multi-gene panels9.9PC, OTC
12brain disease9.8OTC, PC

Graphical network of diseases related to Hyperlysinemia:



Diseases related to hyperlysinemia

Symptoms for Hyperlysinemia

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Symptoms by clinical synopsis from OMIM:

238700

Clinical features from OMIM:

238700

HPO human phenotypes related to Hyperlysinemia:

(show all 14)
id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 abnormality of the genitourinary system HP:0000119
3 short attention span HP:0000736
4 delayed speech and language development HP:0000750
5 hyperactivity HP:0000752
6 ectopia lentis HP:0001083
7 intellectual disability HP:0001249
8 seizures HP:0001250
9 muscular hypotonia HP:0001252
10 anemia HP:0001903
11 hyperlysinemia HP:0002161
12 infantile onset HP:0003593
13 phenotypic variability HP:0003812
14 cognitive impairment HP:0100543

Drugs & Therapeutics for Hyperlysinemia

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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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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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Articles related to Hyperlysinemia:

(show all 22)
idTitleAuthorsYear
1
Mitochondrial NADP(H) deficiency due to a mutation in NADK2 causes dienoyl-CoA reductase deficiency with hyperlysinemia. (24847004)
2014
2
Genetic basis of hyperlysinemia. (23570448)
2013
3
Identification of the alpha-aminoadipic semialdehyde synthase gene, which is defective in familial hyperlysinemia. (10775527)
2000
4
Familial hyperlysinemia in a patient presenting with progressive spastic paraparesis. (8797497)
1996
5
Hyperlysinemia and hyperammonemia]. (1904697)
1991
6
The prognosis of hyperlysinemia: an interim report. (6407303)
1983
7
Hyperlysinemia without clinical findings. (6798824)
1981
8
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. (571908)
1979
9
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. (463877)
1979
10
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities. (904980)
1977
11
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. (977722)
1976
12
Multiple enzyme defects in familial hyperlysinemia. (934735)
1976
13
Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria. (982431)
1976
14
Effects of experimentally induced hyperlysinemia on maze learning in mice. (4795484)
1973
15
Excretion of hypusine by children and by patients with familial hyperlysinemia. (4753051)
1973
16
Ocular manifestations of familial hyperlysinemia. (5557172)
1971
17
Excretion of pipecolic acid by infants and by patients with hyperlysinemia. (5417004)
1970
18
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency. (5796356)
1969
19
Further studies on hyperlysinemia associated with retardation. (6015892)
1967
20
A case of hyperlysinemia: biochemical and clinical observations. (6022933)
1967
21
Hyperlysinemia associated with retardation. (5825685)
1965
22
HYPERLYSINEMIA. (14209691)
1964

Variations for Hyperlysinemia

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Clinvar genetic disease variations for Hyperlysinemia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1AASSNM_005763.3(AASS): c.2662+1_2662+5delGTAAGinsTTindelPathogenicGRCh37Chr 7, 121717887: 121717891
2AASSNM_005763.3(AASS): c.874A> G (p.Ile292Val)single nucleotide variantPathogenicGRCh37Chr 7, 121756707: 121756707
3AASSNM_005763.3(AASS): c.976_977delCA (p.Gln326Glufs)deletionPathogenicGRCh37Chr 7, 121755194: 121755195
4AASSNM_005763.3(AASS): c.1925C> G (p.Ser642Ter)single nucleotide variantPathogenicGRCh37Chr 7, 121731848: 121731848
5AASSNM_005763.3(AASS): c.194G> A (p.Arg65Gln)single nucleotide variantPathogenicGRCh37Chr 7, 121773587: 121773587
6AASSNM_005763.3(AASS): c.1256T> G (p.Leu419Arg)single nucleotide variantPathogenicGRCh37Chr 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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Search GEO for disease gene expression data for Hyperlysinemia.

Pathways for genes affiliated with Hyperlysinemia

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Pathways related to Hyperlysinemia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4AASS, SCCPDH
2
Show member pathways
creatine-phosphate biosynthesis36
glycine degradation (creatine biosynthesis)36
putrescine biosynthesis III36
spermidine biosynthesis I36
tryptophan degradation via kynurenine36
spermine biosynthesis36
urea cycle36
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I36
tyrosine degradation I36
L-carnitine biosynthesis36
methylthiopropionate biosynthesis36
2-oxoglutarate decarboxylation to succinyl-CoA36
S-methyl-5-thioadenosine degradation II36
9.3OTC, AASS
3
Show member pathways
L-serine degradation36
pentose phosphate pathway (oxidative branch)36
formaldehyde oxidation II (glutathione-dependent)36
9.0OTC, PC
4
Show member pathways
8.5OTC, PC, AASS

Compounds for genes affiliated with Hyperlysinemia

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Sources:
43Novoseek, 24HMDB, 28IUPHAR, 12DrugBank, 49PharmGKB
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Compounds related to Hyperlysinemia according to GeneCards Suite gene sharing:

(show all 26)
idCompoundScoreTop Affiliating Genes
1saccharopine43 2410.8AASS, SCCPDH
2nad28 2410.5AASS, SCCPDH
3fructose43 1210.5PC, AASS
4alpha-ketoglutarate439.4PC, AASS
5phenylacetic acid49 43 2411.4OTC, PC
6carbamoyl phosphate439.4PC, OTC
7citrulline43 2410.4OTC, PC
8malate439.3PC, OTC
9phosphoenolpyruvate43 1210.3OTC, PC
10carnitine439.3OTC, PC
11acyl-coa439.3OTC, PC
12ornithine43 2410.3OTC, PC
13urea43 24 1211.2OTC, PC
14glycerol43 24 1211.2OTC, PC
15pyruvate439.2PC, OTC
16nadph43 2410.1AASS, PC
17Phosphate249.1OTC, PC
18lactate439.0OTC, PC
19nadh43 24 1211.0PC, AASS, SCCPDH
20glutamine438.9OTC, PC
21glycogen43 249.9OTC, PC, AASS
22lysine438.8AASS, PC, OTC
23aspartate438.8OTC, PC, AASS
24glutamate438.8AASS, PC, OTC
25atp43 289.7AASS, PC, OTC
26fatty acid438.7OTC, PC

GO Terms for genes affiliated with Hyperlysinemia

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Cellular components related to Hyperlysinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial inner membraneGO:00057439.0OTC, PC
2mitochondrial matrixGO:00057598.2OTC, PC, AASS
3mitochondrionGO:00057397.9OTC, PC, AASS, SCCPDH

Biological processes related to Hyperlysinemia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cellular nitrogen compound metabolic processGO:00346419.0OTC, AASS
2small molecule metabolic processGO:00442818.5OTC, PC, AASS

Products for genes affiliated with Hyperlysinemia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Hyperlysinemia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet