MCID: HYP036
MIFTS: 51

Hyperlysinemia malady

Genetic diseases, Rare diseases, Metabolic diseases categories

Summaries for Hyperlysinemia

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OMIM:46 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.

Genetics Home Reference:22 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: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:64 Hyperlysinemia is an autosomal recessivemetabolic disorder characterized by an abnormal increase of... more...

Description from OMIM:46 238710

Aliases & Classifications for Hyperlysinemia

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Sources:
9Disease Ontology, 10diseasecard, 42NIH Rare Diseases, 21GeneTests, 23GTR, 22Genetics Home Reference, 46OMIM, 11DISEASES, 48Orphanet, 61UMLS, 34MeSH, 56SNOMED-CT, 35MESH via Orphanet, 27ICD10 via Orphanet, 62UMLS via Orphanet
See all sources

Hyperlysinemia, Aliases & Descriptions:

Name: Hyperlysinemia 9 10 42 21 23 22 46 11 48
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 22 61
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 42 61
Alpha-Aminoadipic Semialdehyde Deficiency Disease 22 61
Lysine Alpha-Ketoglutarate Reductase Deficiency 42 48
Saccharopine Dehydrogenase Deficiency Disease 22 61
Lysine Intolerance 42 61
 
Saccharopinuria 22 61
L-Lysine Nad-Oxido-Reductase Deficiency 42
Hyperlysinemia, Familial 61
Familial Hyperlysinemia 22
Hyperlysinemia Type I 48
Hyperlysinemias 61


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology9 DOID:9274
MeSH34 D020167
SNOMED-CT56 58558003
MESH via Orphanet35 D020167
ICD10 via Orphanet27 E72.3
UMLS via Orphanet62 C0268553, C0936256

Related Diseases for Hyperlysinemia

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

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1citrullinemia30.6OTC
2methylmalonic acidemia30.2PC, OTC
3cystinuria29.8SCCPDH, OTC
4saccharopinuria10.5
5propionic acidemia10.0
62,4-dienoyl-coa reductase deficiency10.0
7spastic paraparesis10.0
8spasticity10.0
9multiple carboxylase deficiency10.0PC, OTC
10reye syndrome10.0OTC, PC
11metabolic syndrome x10.0PC, OTC
12hyperammonemia multi-gene panels9.9PC, OTC
13brain 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:

238700,238710

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 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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Articles related to Hyperlysinemia:

(show all 23)
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
Paths of lysine degradation in patients with hyperlysinemia. (6074139)
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

Variations for Hyperlysinemia

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Clinvar genetic disease variations for Hyperlysinemia:

7
id Gene Name 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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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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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 biosynthesis37
glycine degradation (creatine biosynthesis)37
putrescine biosynthesis III37
spermidine biosynthesis I37
tryptophan degradation via kynurenine37
spermine biosynthesis37
urea cycle37
S-methyl-5-thio-alpha-D-ribose 1-phosphate degradation I37
tyrosine degradation I37
L-carnitine biosynthesis37
methylthiopropionate biosynthesis37
2-oxoglutarate decarboxylation to succinyl-CoA37
S-methyl-5-thioadenosine degradation II37
9.3OTC, AASS
3
Show member pathways
L-serine degradation37
pentose phosphate pathway (oxidative branch)37
formaldehyde oxidation II (glutathione-dependent)37
9.0OTC, PC
4
Show member pathways
8.5OTC, PC, AASS

Compounds for genes affiliated with Hyperlysinemia

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Sources:
44Novoseek, 25HMDB, 29IUPHAR, 12DrugBank, 50PharmGKB
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Compounds related to Hyperlysinemia according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1saccharopine44 2510.8AASS, SCCPDH
2nad29 2510.5AASS, SCCPDH
3fructose44 1210.5PC, AASS
4alpha-ketoglutarate449.4PC, AASS
5phenylacetic acid50 44 2511.4OTC, PC
6carbamoyl phosphate449.4PC, OTC
7citrulline44 2510.4OTC, PC
8malate449.3PC, OTC
9phosphoenolpyruvate44 1210.3OTC, PC
10carnitine449.3OTC, PC
11acyl-coa449.3OTC, PC
12ornithine44 2510.3OTC, PC
13urea44 25 1211.2OTC, PC
14glycerol44 25 1211.2OTC, PC
15pyruvate449.2PC, OTC
16nadph44 2510.1AASS, PC
17Phosphate259.1OTC, PC
18lactate449.0OTC, PC
19nadh44 25 1211.0PC, AASS, SCCPDH
20glutamine448.9OTC, PC
21glycogen44 259.9OTC, PC, AASS
22lysine448.8AASS, PC, OTC
23aspartate448.8OTC, PC, AASS
24glutamate448.8AASS, PC, OTC
25atp44 299.7AASS, PC, OTC
26fatty acid448.7OTC, PC

GO Terms for genes affiliated with Hyperlysinemia

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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
  • Proteins
  • Kits and Assays

Sources for Hyperlysinemia

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
29IUPHAR
30KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet