MCID: HRT031
MIFTS: 46

Hartnup Disorder malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Metabolic diseases categories

Aliases & Classifications for Hartnup Disorder

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Sources:
45OMIM, 30LifeMap Discovery®, 9Disease Ontology, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 11DISEASES, 47Orphanet, 22GTR, 60UMLS, 33MeSH, 55SNOMED-CT, 38NCIt, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Hartnup Disorder, Aliases & Descriptions:

Name: Hartnup Disorder 45 10 41 47
Hartnup Disease 30 9 41 20 11 47 60
Neutral 1 Amino Acid Transport Defect 9 22
Aminoaciduria, Hartnup Type 41 47
 
Neutral Amino Acid Transport Defect 9
Deficiency of Tryptophan Oxygenase 9
Tryptophan Oxygenase 10
Hnd 41


Classifications:



Characteristics (Orphanet epidemiological data):

47
hartnup disease:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (United States); Age of onset: All ages; Age of death: normal life expectancy


External Ids:

OMIM45 234500
Disease Ontology9 DOID:1060
MeSH33 D006250
NCIt38 C84748
SNOMED-CT55 80902009, 124208000
Orphanet47 2116
MESH via Orphanet34 D006250
ICD10 via Orphanet26 E72.0
UMLS via Orphanet61 C0018609

Summaries for Hartnup Disorder

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Disease Ontology:9 An amino acid metabolic disorder that iis caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum.

MalaCards based summary: Hartnup Disorder, also known as hartnup disease, is related to cystinuria and pellagra, and has symptoms including hallucinations, cutaneous photosensitivity and muscular hypotonia. An important gene associated with Hartnup Disorder is SLC6A19 (solute carrier family 6 (neutral amino acid transporter), member 19), and among its related pathways are Protein digestion and absorption and Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. The compounds glutamate and sodium have been mentioned in the context of this disorder. Affiliated tissues include skin, cerebellum and eye, and related mouse phenotype renal/urinary system.

Wikipedia:63 Hartnup disease (also known as \"pellagra-like dermatosis\" and \"Hartnup disorder\") is an autosomal... more...

Description from OMIM:45 234500

Related Diseases for Hartnup Disorder

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria30.7SLC1A5
2pellagra30.0SLC1A5, SLC6A19
3hyperglycinuria10.2SLC6A19
4celiac disease10.1
5acrodermatitis enteropathica10.1
6arteriovenous fistula10.1
7acrodermatitis10.1
8hereditary spherocytosis10.1
9kwashiorkor10.1
10dermatitis10.1
11diarrhea10.1
12dystonia10.1
13enteropathica10.1
14hydroa vacciniforme10.1

Graphical network of diseases related to Hartnup Disorder:



Diseases related to hartnup disorder

Symptoms for Hartnup Disorder

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Symptoms by clinical synopsis from OMIM:

234500

Clinical features from OMIM:

234500

Symptoms:

 47 (show all 26)
  • skin photosensitivity
  • abnormal colour of the urine/cholic/dark urines
  • facial pain/cephalalgia/migraine
  • eeg anomalies
  • ataxia/incoordination/trouble of the equilibrium
  • hypotonia
  • hypereflexia
  • delirium/hallucination
  • humour troubles/anxiety/depression/apathy/euphoria/irritability
  • aminoacid metabolism anomalies/aminoaciduria
  • autosomal recessive inheritance
  • anomalies of eyes and vision
  • photophobia
  • strabismus/squint
  • nystagmus
  • cutaneous rash
  • malabsorption/chronic diarrhea/steatorrhea
  • short stature/dwarfism/nanism
  • glossitis
  • gingivitis
  • vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment
  • irregular/patchy skin hypopigmentation
  • irregular/in bands/reticular skin hyperpigmentation
  • encephalitis
  • seizures/epilepsy/absences/spasms/status epilepticus
  • intellectual deficit/mental/psychomotor retardation/learning disability

HPO human phenotypes related to Hartnup Disorder:

(show all 34)
id Description Frequency HPO Source Accession
1 hallucinations hallmark (90%) HP:0000738
2 cutaneous photosensitivity hallmark (90%) HP:0000992
3 muscular hypotonia hallmark (90%) HP:0001252
4 hyperreflexia hallmark (90%) HP:0001347
5 migraine hallmark (90%) HP:0002076
6 incoordination hallmark (90%) HP:0002311
7 eeg abnormality hallmark (90%) HP:0002353
8 aminoaciduria hallmark (90%) HP:0003355
9 strabismus typical (50%) HP:0000486
10 photophobia typical (50%) HP:0000613
11 nystagmus typical (50%) HP:0000639
12 skin rash typical (50%) HP:0000988
13 malabsorption typical (50%) HP:0002024
14 short stature typical (50%) HP:0004322
15 glossitis occasional (7.5%) HP:0000206
16 gingivitis occasional (7.5%) HP:0000230
17 hypopigmented skin patches occasional (7.5%) HP:0001053
18 seizures occasional (7.5%) HP:0001250
19 encephalitis occasional (7.5%) HP:0002383
20 irregular hyperpigmentation occasional (7.5%) HP:0007400
21 abnormal blistering of the skin occasional (7.5%) HP:0008066
22 cognitive impairment occasional (7.5%) HP:0100543
23 glossitis rare (5%) HP:0000206
24 autosomal recessive inheritance HP:0000007
25 psychosis HP:0000709
26 emotional lability HP:0000712
27 eczema HP:0000964
28 seizures HP:0001250
29 global developmental delay HP:0001263
30 hypertonia HP:0001276
31 hyperreflexia HP:0001347
32 short stature HP:0004322
33 intermittent cerebellar ataxia HP:0006862
34 neutral hyperaminoaciduria HP:0008353

Drugs & Therapeutics for Hartnup Disorder

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Drug clinical trials:

Search ClinicalTrials for Hartnup Disorder

Search NIH Clinical Center for Hartnup Disorder

Genetic Tests for Hartnup Disorder

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Genetic tests related to Hartnup Disorder:

id Genetic test Affiliating Genes
1 Hartnup Disease20 SLC6A19
2 Neutral 1 Amino Acid Transport Defect22

Anatomical Context for Hartnup Disorder

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MalaCards organs/tissues related to Hartnup Disorder:

31
Skin, Cerebellum, Eye

LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hartnup Disorder:
id TissueAnatomical CompartmentCell Relevance
1 KidneyProximal TubuleProximal Tubule Cells Potential therapeutic candidate, affected by disease

Animal Models for Hartnup Disorder or affiliated genes

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MGI Mouse Phenotypes related to Hartnup Disorder:

35
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053678.9SLC6A18, SLC6A19, TMEM27

Publications for Hartnup Disorder

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Articles related to Hartnup Disorder:

(show all 12)
idTitleAuthorsYear
1
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. (20399395)
2010
2
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. (19472175)
2009
3
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. (19335424)
2009
4
A protein complex in the brush-border membrane explains a Hartnup disorder allele. (18424768)
2008
5
Further evidence for allelic heterogeneity in Hartnup disorder. (18484095)
2008
6
Neutral amino acid transport in epithelial cells and its malfunction in Hartnup disorder. (15667315)
2005
7
Hartnup disorder: unraveling the mystery. (15681018)
2005
8
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. (15286788)
2004
9
Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder. (15286787)
2004
10
Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder. (15044460)
2004
11
Hartnup disorder: polymorphisms identified in the neutral amino acid transporter SLC1A5. (12555937)
2002
12
Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. (11394870)
2001

Variations for Hartnup Disorder

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UniProtKB/Swiss-Prot genetic disease variations for Hartnup Disorder:

62
id Symbol AA change Variation ID SNP ID
1SLC6A19p.Arg57CysVAR_023314
2SLC6A19p.Asp173AsnVAR_023315rs121434346
3SLC6A19p.Leu242ProVAR_023317
4SLC6A19p.Glu501LysVAR_023319

Clinvar genetic disease variations for Hartnup Disorder:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SLC6A19SLC6A19, IVS8, T-G, +2single nucleotide variantPathogenic
2SLC6A19SLC6A19, 2-BP DEL, 884-885TGdeletionPathogenic
3SLC6A19NM_001003841.2(SLC6A19): c.517G> A (p.Asp173Asn)single nucleotide variantPathogenicrs121434346GRCh37Chr 5, 1212453: 1212453
4SLC6A19NM_001003841.2(SLC6A19): c.718C> T (p.Arg240Ter)single nucleotide variantPathogenicrs121434347GRCh37Chr 5, 1213632: 1213632

Expression for genes affiliated with Hartnup Disorder

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Search GEO for disease gene expression data for Hartnup Disorder.

Pathways for genes affiliated with Hartnup Disorder

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Compounds for genes affiliated with Hartnup Disorder

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Sources:
43Novoseek, 24HMDB
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Compounds related to Hartnup Disorder according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1glutamate438.7SLC1A5, SLC1A4, SLC6A19
2sodium43 248.9SLC1A5, SLC1A4, SLC6A18, SLC6A19

GO Terms for genes affiliated with Hartnup Disorder

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Cellular components related to Hartnup Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:00424708.8SLC1A5, SLC1A4
2integral component of plasma membraneGO:00058878.2SLC6A19, SLC1A5, SLC1A4, SLC6A18
3plasma membraneGO:00058868.2SLC6A19, SLC6A18, SLC1A4, SLC1A5
4extracellular vesicular exosomeGO:00700628.0SLC6A19, SLC1A4, SLC1A5, TMEM27

Biological processes related to Hartnup Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glutamine transportGO:00068688.8SLC1A5, SLC1A4
2amino acid transportGO:00068658.2SLC1A5, SLC1A4, SLC6A18, SLC6A19
3transmembrane transportGO:00550858.2SLC1A5, SLC1A4, SLC6A18, SLC6A19
4ion transportGO:00068118.1SLC6A19, SLC6A18, SLC1A4, SLC1A5

Molecular functions related to Hartnup Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neurotransmitter:sodium symporter activityGO:00053289.5SLC6A18, SLC6A19
2L-glutamine transmembrane transporter activityGO:00151869.2SLC1A5, SLC1A4
3neutral amino acid transmembrane transporter activityGO:00151759.2SLC1A5, SLC6A19
4L-serine transmembrane transporter activityGO:00151949.1SLC1A5, SLC1A4
5sodium:dicarboxylate symporter activityGO:00171539.0SLC1A4, SLC1A5

Products for genes affiliated with Hartnup Disorder

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

Sources for Hartnup Disorder

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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