MCID: HYP036
MIFTS: 40

Hyperlysinemia malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hyperlysinemia

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 65UMLS, 67UniProtKB/Swiss-Prot, 36MeSH, 24GTR, 27ICD10, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hyperlysinemia:

Name: Hyperlysinemia 49 10 11 45 22 23 12 51
Lysine Intolerance 45 22 67 65
Hyperlysinemias 36 24 65
Lysine Alpha-Ketoglutarate Reductase Deficiency Disease 23 65
Alpha-Aminoadipic Semialdehyde Synthase Deficiency 45 67
Alpha-Aminoadipic Semialdehyde Deficiency Disease 23 65
Lysine Alpha-Ketoglutarate Reductase Deficiency 45 51
Hyperlysinemia Type I 51 67
Saccharopinuria 23 65
 
Lysine:alpha-Ketoglutarate Reductase Deficiency 67
Saccharopine Dehydrogenase Deficiency Disease 23
L-Lysine:nad-Oxido-Reductase Deficiency 67
L-Lysine Nad-Oxido-Reductase Deficiency 45
Saccharopine Dehydrogenase Deficiency 65
Familial Hyperlysinemia 23
Hyperlysinemia, Type I 65
Hyperlysinemia, 1 67
Hyplys1 67

Characteristics:

Orphanet epidemiological data:

51
hyperlysinemia:
Inheritance: Autosomal recessive; Age of onset: All ages; Age of death: any age

HPO:

61
hyperlysinemia:
Onset and clinical course: phenotypic variability, infantile onset
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 238700
Disease Ontology10 DOID:9274
ICD1027 E72.3
MeSH36 D020167
Orphanet51 2203
SNOMED-CT59 58558003
ICD10 via Orphanet28 E72.3
MESH via Orphanet37 D020167
UMLS via Orphanet66 C0268553, C0936256
UMLS65 C0268553, C0268556, C0543533 C2936921, C1282843, C1527317, C0936256, more

Summaries for Hyperlysinemia

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OMIM:49 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 progressive encephalopathy with leukodystrophy due to decr deficiency, and has symptoms including cognitive impairment, hyperlysinemia and anemia. An important gene associated with Hyperlysinemia is AASS (Aminoadipate-Semialdehyde Synthase), and among its related pathways are Carbon metabolism and Metabolism. Affiliated tissues include breast, myeloid and t cells.

Disease Ontology:10 An amino acid metabolic disorder that involves an abnormal increase of lysine in the blood.

Genetics Home Reference:23 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:45 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:67 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.

Wikipedia:68 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 cognitive impairment HP:0100543
2 hyperlysinemia HP:0002161
3 anemia HP:0001903
4 muscular hypotonia HP:0001252
5 seizures HP:0001250
6 intellectual disability HP:0001249
7 ectopia lentis HP:0001083
8 hyperactivity HP:0000752
9 delayed speech and language development HP:0000750
10 short attention span HP:0000736
11 abnormality of the genitourinary system HP:0000119

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 Hyperlysinemia22 AASS

Anatomical Context for Hyperlysinemia

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MalaCards organs/tissues related to Hyperlysinemia:

33
Breast, Myeloid, T cells, Prostate, Colon, Lung, Kidney

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
Paths of lysine degradation in patients with hyperlysinemia. (6074139)
1967
21
Further studies on hyperlysinemia associated with retardation. (6015892)
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
8.5OTC, PC, PGD
2
Show member pathways
7.5AASS, NADK2, OTC, PC, PGD

GO Terms for genes affiliated with Hyperlysinemia

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Sources for Hyperlysinemia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet