MCID: HYP036
MIFTS: 39

Hyperlysinemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hyperlysinemia

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Sources:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 37MeSH, 66UMLS, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
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Aliases & Descriptions for Hyperlysinemia:

Name: Hyperlysinemia 50 11 46 23 24 13 52 25 12
Lysine Intolerance 46 23 68 66
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 24 66
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 46 68
Alpha-Aminoadipic Semialdehyde Deficiency Disease 24 66
Lysine Alpha-Ketoglutarate Reductase Deficiency 46 52
Hyperlysinemia Type I 52 68
Saccharopinuria 24 66
Hyperlysinemias 37 66
Lysine:alpha-Ketoglutarate Reductase Deficiency 68
 
Saccharopine Dehydrogenase Deficiency Disease 24
L-Lysine:nad-Oxido-Reductase Deficiency 68
L-Lysine Nad-Oxido-Reductase Deficiency 46
Alpha-Aminoadipic Semialdehyde Synthase 12
Saccharopine Dehydrogenase Deficiency 66
Familial Hyperlysinemia 24
Hyperlysinemia, Type I 66
Hyperlysinemia, 1 68
Hyplys1 68

Characteristics:

Orphanet epidemiological data:

52
hyperlysinemia:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age

HPO:

62
hyperlysinemia:
Inheritance: autosomal recessive inheritance
Onset and clinical course: infantile onset, phenotypic variability


Classifications:



External Ids:

OMIM50 238700
Disease Ontology11 DOID:9274
ICD1028 E72.3
MeSH37 D020167
NCIt43 C123433
SNOMED-CT60 58558003
Orphanet52 ORPHA2203
ICD10 via Orphanet29 E72.3
MESH via Orphanet38 D020167
UMLS via Orphanet67 C0268553, C0936256

Summaries for Hyperlysinemia

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OMIM:50 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 intolerance, is related to saccharopinuria and 2,4-dienoyl-coa reductase deficiency, and has symptoms including seizures, 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 is Fatty Acid Biosynthesis (WikiPathways).

Disease Ontology:11 An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.

NIH Rare Diseases:46 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

UniProtKB/Swiss-Prot:68 Hyperlysinemia, 1: An autosomal recessive metabolic condition with variable clinical features. Some patients present with non-specific seizures, hypotonia, or mildly delayed psychomotor development, and increased serum lysine and pipecolic acid on laboratory analysis. However, about half of the probands are reported to be asymptomatic, and hyperlysinemia is generally considered to be a benign metabolic variant.

Genetics Home Reference:24 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:69 Hyperlysinemia is an autosomal recessivemetabolic disorder characterized by an abnormal increase of... more...

Related Diseases for Hyperlysinemia

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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 11)
id Description Frequency HPO Source Accession
1 abnormality of the genitourinary system HP:0000119
2 short attention span HP:0000736
3 delayed speech and language development HP:0000750
4 hyperactivity HP:0000752
5 ectopia lentis HP:0001083
6 intellectual disability HP:0001249
7 seizures HP:0001250
8 muscular hypotonia HP:0001252
9 anemia HP:0001903
10 hyperlysinemia HP:0002161
11 cognitive impairment HP:0100543

UMLS symptoms related to Hyperlysinemia:


seizures

Drugs & Therapeutics for Hyperlysinemia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hyperlysinemia


Cochrane evidence based reviews: hyperlysinemias

Genetic Tests for Hyperlysinemia

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Genetic tests related to Hyperlysinemia:

id Genetic test Affiliating Genes
1 Hyperlysinemia25 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 25)
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
Familial hyperlysinemias. Purification and characterization of the bifunctional aminoadipic semialdehyde synthase with lysine-ketoglutarate reductase and saccharopine dehydrogenase activities. (6434529)
1984
7
The prognosis of hyperlysinemia: an interim report. (6407303)
1983
8
Hyperlysinemia without clinical findings. (6798824)
1981
9
Hyperlysinemia with saccharopinuria due to combined lysine-ketoglutarate reductase and saccharopine dehydrogenase deficiencies presenting as cystinuria. (571908)
1979
10
Familial hyperlysinemia: enzyme studies, diagnostic methods, comments on terminology. (463877)
1979
11
Periodic hyperammonemia, hyperlysinemia, and homocitrullinuria associated with decreased argininosuccinate synthetase and arginase activities. (904980)
1977
12
Propionic acidemia and hyperlysinemia in a case with ornithine transcarbamylase (OTC) deficiency. (977722)
1976
13
Multiple enzyme defects in familial hyperlysinemia. (934735)
1976
14
Clinical and biochemical studies on periodic hyperammonemia with hyperlysinemia and homocitrullinuria. (982431)
1976
15
Effects of experimentally induced hyperlysinemia on maze learning in mice. (4795484)
1973
16
Excretion of hypusine by children and by patients with familial hyperlysinemia. (4753051)
1973
17
Ocular manifestations of familial hyperlysinemia. (5557172)
1971
18
Excretion of pipecolic acid by infants and by patients with hyperlysinemia. (5417004)
1970
19
Familial hyperlysinemia with lysine-ketoglutarate reductase insufficiency. (5796356)
1969
20
Further studies on hyperlysinemia associated with retardation. (6015892)
1967
21
Paths of lysine degradation in patients with hyperlysinemia. (6074139)
1967
22
A case of hyperlysinemia: biochemical and clinical observations. (6022933)
1967
23
Further studies of hyperlysinemia. (5928822)
1966
24
Hyperlysinemia associated with retardation. (5825685)
1965
25
HYPERLYSINEMIA. (14209691)
1964

Variations for Hyperlysinemia

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Clinvar genetic disease variations for Hyperlysinemia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1AASSNM_005763.3(AASS): c.2662+1_2662+5delGTAAGinsTTindelPathogenicrs587777121GRCh37Chr 7, 121717887: 121717891
2AASSNM_005763.3(AASS): c.874A> G (p.Ile292Val)single nucleotide variantPathogenicrs587777122GRCh37Chr 7, 121756707: 121756707
3AASSNM_005763.3(AASS): c.976_977delCA (p.Gln326Glufs)deletionPathogenicrs587777123GRCh37Chr 7, 121755194: 121755195
4AASSNM_005763.3(AASS): c.1925C> G (p.Ser642Ter)single nucleotide variantPathogenicrs587777124GRCh37Chr 7, 121731848: 121731848
5AASSNM_005763.3(AASS): c.194G> A (p.Arg65Gln)single nucleotide variantPathogenicrs587777125GRCh37Chr 7, 121773587: 121773587
6AASSNM_005763.3(AASS): c.1256T> G (p.Leu419Arg)single nucleotide variantPathogenicrs587777126GRCh37Chr 7, 121753194: 121753194
7AASSNM_005763.3(AASS): c.1601_1609delGTAAACAAG (p.Cys534_Ala871delinsTer)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 pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.6DECR1, 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 matrixGO:00057599.0AASS, DECR1, OTC, PC
2mitochondrionGO:00057398.4AASS, DECR1, NADK2, OTC, PC

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

idNameGO IDScoreTop Affiliating Genes
1fatty acid beta-oxidationGO:00066359.4DECR1, PEX5

Sources for Hyperlysinemia

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet