HND
MCID: HRT004
MIFTS: 63

Hartnup Disease (HND) malady

Neuronal diseases, Nephrological diseases, Skin diseases, Metabolic diseases categories

Summaries for Hartnup Disease

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8Disease Ontology, 63Wikipedia, 46OMIM, 32MalaCards
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Disease Ontology:8 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: Hartnup Disease, also known as hartnup disorder, is related to cystinuria and intestinal disease, and has symptoms including cutaneous rash, vesicles/bullous/exsudative lesions/bullous/cutaneous/mucosal detachment and irregular/in bands/reticular skin hyperpigmentation. An important gene associated with Hartnup Disease is SLC6A19 (solute carrier family 6 (neutral amino acid transporter), member 19), and among its related pathways are Amine compound SLC transporters and Selected targets of HNF1. The compounds L-Cystine and bicarbonate have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, skin and eye, and related mouse phenotypes are adipose tissue and renal/urinary system.

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

Description from OMIM:46 234500

Aliases & Classifications for Hartnup Disease

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Sources:
8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 60UMLS, 22GTR, 9diseasecard, 20GeneTests, 46OMIM, 48Orphanet, 56SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

48
hartnup disorder:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hartnup disease 8 42 10 60
hartnup disorder 9 42 20 46 48
neutral 1 amino acid transport defect 8 22
neutral amino acid transport defect 8
deficiency of tryptophan oxygenase 8
aminoaciduria, hartnup type 48
tryptophan oxygenase 9
hartnup syndrome 48
hnd 42


External Ids:

Disease Ontology8 DOID:1060
OMIM46 234500
MeSH34 D006250
NCIt39 C84748
SNOMED-CT56 124208000, 80902009
MESH via Orphanet35 D006250
ICD10 via Orphanet26 E72.0
SNOMED-CT via Orphanet57 124208000, 80902009
UMLS via Orphanet61 C0018609

Related Diseases for Hartnup Disease

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Sources:
17GeneCards, 18GeneDecks
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Diseases related to Hartnup Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 13)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria30.3SLC1A5, SLC3A1
2intestinal disease10.5
3arteriovenous fistula10.1
4acrodermatitis10.1
5kwashiorkor10.1
6hereditary spherocytosis10.1
7acrodermatitis enteropathica10.1
8leukocyte disease10.1
9iminoglycinuria10.0SLC36A1
10hyperglycinuria10.0SLC6A20, SLC6A19
11aminoaciduria10.0SLC3A1, SLC6A19
12pellagra10.0SLC6A19, SLC1A5
13iminoglycinuria, digenic10.0SLC6A20, SLC6A19

Graphical network of diseases related to Hartnup Disease:



Diseases related to hartnup disease

Clinical Features for Hartnup Disease

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

234500

Clinical synopsis from OMIM:

234500

Symptoms:

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

Drugs & Therapeutics for Hartnup Disease

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
See all sources

Approved drugs:

Search CenterWatch for Hartnup Disease

Drug clinical trials:

Search ClinicalTrials for Hartnup Disease

Search NIH Clinical Center for Hartnup Disease

Search CenterWatch for Hartnup Disease

Genetic Tests for Hartnup Disease

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Sources:
20GeneTests, 22GTR
See all sources

Genetic tests related to Hartnup Disease:

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

Anatomical Context for Hartnup Disease

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Sources:
30LifeMap Discovery™, 32MalaCards
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MalaCards organs/tissues related to Hartnup Disease:

32
Cerebellum, Skin, Eye, Testes

LifeMap Discovery
The database of embryonic development, stem cell research and regenerative medicine

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

Animal Models for Hartnup Disease or affiliated genes

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Sources:
36MGI
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MGI Mouse Phenotypes related to Hartnup Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053758.6SLC6A19, SLC3A1, TMEM27, SLC5A1
2MP:00053678.2ACE2, SLC5A1, SLC6A19, TMEM27, SLC3A1
3MP:00053768.0SLC5A1, SLC6A19, SLC26A3, SLC3A1, ACE2, TMEM27

Publications for Hartnup Disease

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Sources:
50PubMed
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Articles related to Hartnup Disease:

(show top 50)    (show all 58)
idTitleAuthorsYear
1
Hartnup disease masked by kwashiorkor. (20824986)
2010
2
Hartnup disease. (19967017)
2008
3
Persistence of the common Hartnup disease D173N allele in populations of European origin. (17555458)
2007
4
Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease. (16780476)
2006
5
Spontaneous scalp arteriovenous fistula in a child with hartnup disease. (15174904)
2004
6
A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease. (15206746)
2003
7
Hartnup disease presenting in an adult. (7955499)
1994
8
Hartnup disease. (8125700)
1993
9
Hartnup disease: MR findings. (1950900)
1991
10
Tryptophan and its metabolites in a family with Hartnup disease. (1722956)
1991
11
Use of ethyl esters of tryptophan to bypass the absorption defect in Hartnup disease. (2336209)
1990
12
Intermittent dystonia in Hartnup disease. (2712944)
1989
13
Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester. (2472426)
1989
14
Julius Caesar and the Julian emperors. A family cluster with Hartnup disease? (3532855)
1986
15
Treatment of Hartnup disease with nicotinic acid. (6236384)
1984
16
Hartnup disease (a case report). (7461844)
1980
17
Hartnup disease--a case report. (751957)
1978
18
Hartnup disease in New South Wales. (909480)
1977
19
Natural history of Hartnup disease. (836052)
1977
20
Proceedings: Absorption of amino acids and peptides in Hartnup disease. (4817256)
1974
21
Hartnup disease. A report on two siblings. (4761306)
1973
22
Absorption of amino acids and peptides in a child with a variant of Hartnup disease and coexistent coeliac disease. (5086513)
1972
23
Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease. (5054467)
1972
24
Studies of intestinal transport defect in Hartnup disease. (5157127)
1971
25
Hartnup disease. (5141735)
1971
26
Hartnup disease. A case report. (5532073)
1970
27
Intestinal absorption and biopsy transport of peptides and amino acids in Hartnup disease. (5493936)
1970
28
Studies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease. (4246731)
1970
29
Intestinal absorption of two dipeptides in Hartnup disease. (5428040)
1970
30
Intestinal absorption of dipeptides and corresponding free amino acids in Hartnup disease. (5448166)
1970
31
Absorption of amino acids and the dipeptide, carnosine, from the gut in normal subjects and a case of Hartnup disease. (5359019)
1969
32
Hartnup disease in two Colombian siblings. (5813128)
1969
33
Cellular transport of L-histidine in Hartnup disease. (5796364)
1969
34
Hydroa vacciniforme occurring in association with Hartnup disease. (5794939)
1969
35
Discussion of indole metabolism in Hartnup disease. (5658319)
1968
36
Observations on nicotinic acid therapy in Hartnup disease. (6073833)
1967
37
Effects of amino acid loads on a health infant with the biochemical features of Hartnup disease. (6073838)
1967
38
Hartnup disease. (4228120)
1967
39
Clinical and biochemical observations in two cases of hartnup disease. (21032437)
1966
40
Hartnup disease in three siblings. (5927700)
1966
41
Tryptophan load and uptake of tryptophan by leukocytes in Hartnup disease. (4226466)
1966
42
HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS. (14324515)
1965
43
CLINICAL AND BIOCHEMICAL FEATURES OF A CASE OF HARTNUP DISEASE. (14085009)
1964
44
BIOCHEMICAL ASPECTS OF THE HARTNUP DISEASE. III. GENERAL DISCUSSION AND CONCLUSIONS. (14168315)
1964
45
BIOCHEMICAL ASPECTS OF THE HARTNUP DISEASE. II. SOME OBSERVATIONS ON RATS ABOUT TRYPTOPHAN METABOLISM. (14135037)
1964
46
Indole production in Hartnup disease. (13965100)
1963
47
Stature and nutrition in cystinuria and Hartnup disease. (14022394)
1963
48
Hartnup disease. (13952238)
1963
49
Hartnup disease in psychiatric practice: clinical and biochemical features of three cases. (14401403)
1960
50
The metabolic disorder in Hartnup disease. (13770962)
1960

Genetic Variations for Hartnup Disease

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Hartnup Disease:

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

Expression for genes affiliated with Hartnup Disease

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Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Hartnup Disease

Search GEO for disease gene expression data for Hartnup Disease.

Pathways for genes affiliated with Hartnup Disease

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Sources:
53Reactome, 12EMD Millipore, 29KEGG
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Compounds for genes affiliated with Hartnup Disease

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Sources:
11DrugBank, 24HMDB, 44Novoseek, 28IUPHAR, 59Tocris Bioscience
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Compounds related to Hartnup Disease according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1L-Cystine11 2410.8SLC3A1, SLC1A4
2bicarbonate449.6SLC36A1, SLC26A3
3l-alanine28 59 11 2412.5SLC36A1, SLC1A4
4chlorine44 2410.3ACE2, SLC26A3, SLC6A19
5hydroxyproline44 11 2411.3SLC36A1, SLC1A4
6gaba448.9SLC5A1, SLC1A4, SLC3A1, SLC36A1
7glutamine448.4SLC1A5, SLC1A4, SLC5A1
8glutamate448.2SLC5A1, SLC1A4, SLC6A19, SLC3A1, SLC1A5
9alanine448.0SLC5A1, SLC1A4, SLC3A1, SLC1A5, SLC36A1
10sodium44 248.9SLC1A5, SLC3A1, SLC6A20, SLC6A19, SLC1A4, SLC5A1
11serine447.8SLC5A1, SLC1A4, SLC3A1, SLC1A5, SLC36A1

GO Terms for genes affiliated with Hartnup Disease

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16Gene Ontology
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Cellular components related to Hartnup Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1brush border membraneGO:0315269.4SLC26A3, SLC5A1
2apical plasma membraneGO:0163249.3SLC5A1, SLC6A20, SLC26A3
3melanosomeGO:0424709.1SLC1A5, SLC1A4
4integral to plasma membraneGO:0058877.7SLC5A1, SLC1A4, SLC6A19, SLC6A20, SLC3A1, SLC1A5
5plasma membraneGO:0058866.3ACE2, SLC5A1, SLC1A4, SLC6A19, SLC6A20, SLC26A3

Biological processes related to Hartnup Disease according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1amino acid transmembrane transportGO:0033339.8SLC3A1, SLC6A20
2chloride transportGO:0068219.6SLC1A4, SLC26A3
3L-cystine transportGO:0158119.5SLC3A1, SLC1A4
4proline transportGO:0158249.3SLC1A4, SLC6A20
5glutamine transportGO:0068689.1SLC1A5, SLC1A4
6amino acid transportGO:0068657.8SLC6A19, SLC3A1, SLC1A5, SLC36A1, SLC1A4, SLC6A20
7ion transportGO:0068117.4SLC6A20, SLC26A3, SLC1A4, SLC3A1, SLC1A5, SLC36A1
8transmembrane transportGO:0550857.0SLC3A1, SLC1A5, SLC26A3, SLC6A20, SLC6A19, SLC1A4

Molecular functions related to Hartnup Disease according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1L-cystine transmembrane transporter activityGO:0151849.8SLC1A4, SLC3A1
2amino acid transmembrane transporter activityGO:0151719.8SLC3A1, SLC6A20
3neurotransmitter:sodium symporter activityGO:0053289.7SLC6A19, SLC6A20
4L-proline transmembrane transporter activityGO:0151939.7SLC36A1, SLC1A4
5peptidyl-dipeptidase activityGO:0082419.6TMEM27, ACE2
6L-alanine transmembrane transporter activityGO:0151809.6SLC36A1, SLC1A4
7neutral amino acid transmembrane transporter activityGO:0151759.4SLC1A5, SLC6A19
8metallopeptidase activityGO:0082379.4TMEM27, ACE2
9L-glutamine transmembrane transporter activityGO:0151869.3SLC1A5, SLC1A4
10sodium:dicarboxylate symporter activityGO:0171539.2SLC1A4, SLC1A5
11virus receptor activityGO:0016188.7ACE2, SLC1A5

Products for genes affiliated with Hartnup Disease

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  • Proteins
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  • Antibodies

Sources for Hartnup Disease

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet