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:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 32LifeMap Discovery®, 10Disease Ontology, 22GeneTests, 12DISEASES, 65UMLS, 36MeSH, 24GTR, 59SNOMED-CT, 42NCIt, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
See all sources

Aliases & Descriptions for Hartnup Disorder:

Name: Hartnup Disorder 49 11 45 51 67
Hartnup Disease 32 10 45 22 12 51 65 36
Neutral 1 Amino Acid Transport Defect 10 24
Hnd 45 67
 
Neutral Amino Acid Transport Defect 10
Deficiency of Tryptophan Oxygenase 10
Aminoaciduria, Hartnup Type 51
Tryptophan Oxygenase 11


Classifications:



Characteristics (Orphanet epidemiological data):

51
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:

OMIM49 234500
Disease Ontology10 DOID:1060
MeSH36 D006250
NCIt42 C84748
Orphanet51 2116
SNOMED-CT59 124208000, 80902009
ICD10 via Orphanet28 E72.0
MESH via Orphanet37 D006250
UMLS via Orphanet66 C0018609
MedGen34 C0018609

Summaries for Hartnup Disorder

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UniProtKB/Swiss-Prot:67 Hartnup disorder: Autosomal recessive abnormality of renal and gastrointestinal neutral amino acid transport noted for its clinical variability. First described in 1956, HND is characterized by increases in the urinary and intestinal excretion of neutral amino acids. Individuals with typical Hartnup aminoaciduria may be asymptomatic, some develop a photosensitive pellagra-like rash, attacks of cerebellar ataxia and other neurological or psychiatric features. Although the definition of HND was originally based on clinical and biochemical abnormalities, its marked clinical heterogeneity has led to it being known as a disorder with a consistent pathognomonic neutral hyperaminoaciduria.

MalaCards based summary: Hartnup Disorder, also known as hartnup disease, is related to cystinuria and celiac disease, 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. Affiliated tissues include skin, cerebellum and eye.

Disease Ontology:10 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.

Description from OMIM:49 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 16)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria29.8SLC1A4, SLC6A18, SLC7A7
2celiac disease10.1
3acrodermatitis enteropathica10.1
4arteriovenous fistula10.1
5kwashiorkor10.1
6hereditary spherocytosis10.1
7pellagra10.1
8acrodermatitis10.1
9dermatitis10.1
10diarrhea10.1
11dystonia10.1
12enteropathica10.1
13hydroa vacciniforme10.1
14iminoglycinuria, digenic9.7SLC6A18, SLC6A19, SLC6A20
15hyperglycinuria9.6SLC6A18, SLC6A19, SLC6A20
16hartnup disorder9.0RNF128, SLC1A4, SLC6A18, SLC6A19, SLC6A20, SLC7A7

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:

 51 (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 33)
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 strabismus typical (50%) HP:0000486
9 photophobia typical (50%) HP:0000613
10 nystagmus typical (50%) HP:0000639
11 skin rash typical (50%) HP:0000988
12 malabsorption typical (50%) HP:0002024
13 short stature typical (50%) HP:0004322
14 glossitis occasional (7.5%) HP:0000206
15 gingivitis occasional (7.5%) HP:0000230
16 hypopigmented skin patches occasional (7.5%) HP:0001053
17 seizures occasional (7.5%) HP:0001250
18 encephalitis occasional (7.5%) HP:0002383
19 irregular hyperpigmentation occasional (7.5%) HP:0007400
20 abnormal blistering of the skin occasional (7.5%) HP:0008066
21 cognitive impairment occasional (7.5%) HP:0100543
22 glossitis rare (5%) HP:0000206
23 autosomal recessive inheritance HP:0000007
24 psychosis HP:0000709
25 emotional lability HP:0000712
26 cutaneous photosensitivity HP:0000992
27 seizures HP:0001250
28 global developmental delay HP:0001263
29 hypertonia HP:0001276
30 hyperreflexia HP:0001347
31 episodic ataxia HP:0002131
32 short stature HP:0004322
33 neutral hyperaminoaciduria HP:0008353

Drugs & Therapeutics for Hartnup Disorder

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Hartnup Disorder


Cochrane evidence based reviews: Hartnup Disease

Genetic Tests for Hartnup Disorder

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Genetic tests related to Hartnup Disorder:

id Genetic test Affiliating Genes
1 Hartnup Disease22 SLC6A19
2 Neutral 1 Amino Acid Transport Defect24

Anatomical Context for Hartnup Disorder

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MalaCards organs/tissues related to Hartnup Disorder:

33
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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Publications for Hartnup Disorder

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Articles related to Hartnup Disorder:

(show all 19)
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
13
A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport. (9060408)
1997
14
Maternal Hartnup disorder. (3728570)
1986
15
Occurrences of methylmalonic aciduria and Hartnup disorder in the same family. (6478642)
1984
16
A case of Hartnup disorder with hypoalbuminemia and edema. (618038)
1977
17
Intestinal absorption of amino acids and peptides in Hartnup disorder. (1272631)
1976
18
Hartnup disorder in a New England family. (5647741)
1968
19
Interconversions of indolic acids by bacteria and rat tissue--possible relevance to Hartnup disorder. (5653691)
1968

Variations for Hartnup Disorder

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

67
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:

5
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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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
1brush border membraneGO:003152610.1SLC6A18, SLC6A19
2integral component of plasma membraneGO:00058877.9SLC1A4, SLC6A18, SLC6A19, SLC6A20, SLC7A7
3plasma membraneGO:00058867.6SLC1A4, SLC6A18, SLC6A19, SLC6A20, SLC7A7
4integral component of membraneGO:00160217.2RNF128, SLC1A4, SLC6A18, SLC6A19, SLC6A20, SLC7A7

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

idNameGO IDScoreTop Affiliating Genes
1proline transportGO:00158249.9SLC1A4, SLC6A20
2neurotransmitter transportGO:00068369.1SLC6A18, SLC6A19, SLC6A20
3amino acid transmembrane transportGO:00033338.7SLC6A18, SLC6A19, SLC6A20, SLC7A7
4amino acid transportGO:00068658.2SLC1A4, SLC6A18, SLC6A19, SLC6A20, SLC7A7
5ion transportGO:00068117.6SLC1A4, SLC6A18, SLC6A19, SLC6A20, SLC7A7
6transmembrane transportGO:00550857.6SLC1A4, SLC6A18, SLC6A19, SLC6A20, SLC7A7

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

idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transmembrane transporter activityGO:00151759.5SLC1A4, SLC6A19
2neurotransmitter:sodium symporter activityGO:00053289.2SLC6A18, SLC6A19, SLC6A20
3amino acid transmembrane transporter activityGO:00151718.3SLC6A18, SLC6A20, SLC7A7

Sources for Hartnup Disorder

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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