HND
MCID: HRT004
MIFTS: 59

Hartnup Disease (HND) malady

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

Summaries for Hartnup Disease

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Sources:
9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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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: Hartnup Disease, also known as hartnup disorder, is related to cystinuria and acrodermatitis, 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 Mineral absorption and Sodium channels and transporters inward current. The compounds l-alanine and hydroxyproline 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:66 Hartnup disease (also known as \"pellagra-like dermatosis\" and \"Hartnup disorder\") is an autosomal... more...

Description from OMIM:48 234500

Aliases & Classifications for Hartnup Disease

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 50Orphanet, 63UMLS, 23GTR, 10diseasecard, 21GeneTests, 48OMIM, 41NCIt, 59SNOMED-CT, 36MeSH, 37MESH via Orphanet, 27ICD10 via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
hartnup disorder:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hartnup disease 9 44 11 50 63
hartnup disorder 10 44 21 48 50
neutral 1 amino acid transport defect 9 23
neutral amino acid transport defect 9
deficiency of tryptophan oxygenase 9
aminoaciduria, hartnup type 50
tryptophan oxygenase 10
hnd 44


External Ids:

Disease Ontology9 DOID:1060
NCIt41 C84748
OMIM48 234500
MeSH36 D006250
SNOMED-CT59 124208000, 80902009
MESH via Orphanet37 D006250
ICD10 via Orphanet27 E72.0
SNOMED-CT via Orphanet60 124208000, 80902009
UMLS via Orphanet64 C0018609

Related Diseases for Hartnup Disease

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Hartnup Disease via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria30.4SLC1A5
2acrodermatitis10.1
3hereditary spherocytosis10.1
4kwashiorkor10.1
5acrodermatitis enteropathica10.1
6dystonia10.1
7enteropathica10.1
8hydroa vacciniforme10.1
9iminoglycinuria10.0SLC36A1
10iminoglycinuria, digenic10.0SLC6A19, SLC6A20
11hyperglycinuria10.0SLC6A19, SLC6A20
12pellagra10.0SLC1A5, SLC6A19

Graphical network of diseases related to Hartnup Disease:



Diseases related to hartnup disease

Symptoms for Hartnup Disease

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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

234500

Clinical features from OMIM:

234500

Symptoms:

50 (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:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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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:
21GeneTests, 23GTR
See all sources

Genetic tests related to Hartnup Disease:

id Genetic test Affiliating Genes
1 Hartnup Disease21 SLC6A19
2 Neutral 1 Amino Acid Transport Defect23

Anatomical Context for Hartnup Disease

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Sources:
32LifeMap Discoveryā„¢, 34MalaCards
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MalaCards organs/tissues related to Hartnup Disease:

34
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:
38MGI
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MGI Mouse Phenotypes related to Hartnup Disease:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2SLC5A1, SLC6A19, TMEM27
2MP:00053678.1SLC5A1, SLC6A19, ACE2, TMEM27

Publications for Hartnup Disease

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Sources:
53PubMed
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Articles related to Hartnup Disease:

(show top 50)    (show all 57)
idTitleAuthorsYear
1
Hartnup disease masked by kwashiorkor. (20824986)
2010
2
Hartnup disease. (19967017)
2008
3
Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease. (16780476)
2006
4
A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease. (15206746)
2003
5
Hartnup disease presenting in an adult. (7955499)
1994
6
Hartnup disease. (8125700)
1993
7
Hartnup disease: MR findings. (1950900)
1991
8
Tryptophan and its metabolites in a family with Hartnup disease. (1722956)
1991
9
Use of ethyl esters of tryptophan to bypass the absorption defect in Hartnup disease. (2336209)
1990
10
Intermittent dystonia in Hartnup disease. (2712944)
1989
11
Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester. (2472426)
1989
12
Julius Caesar and the Julian emperors. A family cluster with Hartnup disease? (3532855)
1986
13
Treatment of Hartnup disease with nicotinic acid. (6236384)
1984
14
Hartnup disease (a case report). (7461844)
1980
15
Hartnup disease--a case report. (751957)
1978
16
Note on Hartnup disease. (735931)
1978
17
Hartnup disease in New South Wales. (909480)
1977
18
Natural history of Hartnup disease. (836052)
1977
19
Proceedings: Absorption of amino acids and peptides in Hartnup disease. (4817256)
1974
20
Absorption of amino acids and peptides in a child with a variant of Hartnup disease and coexistent coeliac disease. (5086513)
1972
21
Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease. (5054467)
1972
22
Studies of intestinal transport defect in Hartnup disease. (5157127)
1971
23
Hartnup disease. (5141735)
1971
24
Hartnup disease. A case report. (5532073)
1970
25
Intestinal absorption and biopsy transport of peptides and amino acids in Hartnup disease. (5493936)
1970
26
Studies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease. (4246731)
1970
27
Intestinal absorption of two dipeptides in Hartnup disease. (5428040)
1970
28
Intestinal absorption of dipeptides and corresponding free amino acids in Hartnup disease. (5448166)
1970
29
Absorption of amino acids and the dipeptide, carnosine, from the gut in normal subjects and a case of Hartnup disease. (5359019)
1969
30
Hartnup disease in two Colombian siblings. (5813128)
1969
31
Cellular transport of L-histidine in Hartnup disease. (5796364)
1969
32
Hydroa vacciniforme occurring in association with Hartnup disease. (5794939)
1969
33
Discussion of indole metabolism in Hartnup disease. (5658319)
1968
34
Histaminuria in Hartnup disease. (5706044)
1968
35
Observations on nicotinic acid therapy in Hartnup disease. (6073833)
1967
36
Effects of amino acid loads on a health infant with the biochemical features of Hartnup disease. (6073838)
1967
37
Clinical and biochemical observations in two cases of hartnup disease. (21032437)
1966
38
Hartnup disease in three siblings. (5927700)
1966
39
Tryptophan load and uptake of tryptophan by leukocytes in Hartnup disease. (4226466)
1966
40
HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS. (14324515)
1965
41
BIOCHEMICAL ASPECTS OF THE HARTNUP DISEASE. I. RESULTS OF INTRAVENOUS AND ORAL TRYPTOPHAN LOADING TESTS IN A CASE OF HARTNUP DISEASE. (14133234)
1964
42
CLINICAL AND BIOCHEMICAL FEATURES OF A CASE OF HARTNUP DISEASE. (14085009)
1964
43
HARTNUP DISEASE IN TWO SIBLINGS. CLINICAL OBSERVATIONS AND BIOCHEMICAL STUDIES. (14116920)
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
Hartnup disease. (13871450)
1962
48
Hartnup disease in psychiatric practice: clinical and biochemical features of three cases. (14401403)
1960
49
The metabolic disorder in Hartnup disease. (13770962)
1960
50
A case of Hartnup disease. (13534742)
1958

Variations for Hartnup Disease

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Sources:
65UniProtKB/Swiss-Prot, 1 National Center for Biotechnology Information (Clinvar), 8dbSNP
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UniProtKB/Swiss-Prot genetic disease variations for Hartnup Disease:

65
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 Disease:

1
id Gene Name 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 Disease

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2BioGPS, 16Gene 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:
51PathCards, 31KEGG, 13EMD Millipore, 56Reactome
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Pathways related to Hartnup Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SLC6A19, SLC5A1
2
Show member pathways
9.4SLC1A5, SLC5A1
39.2SLC5A1, ACE2
48.2ACE2, SLC36A1, SLC6A19, SLC1A5
5
Show member pathways
7.7SLC1A5, SLC5A1, SLC1A4, SLC6A19, SLC36A1, SLC6A20

Compounds for genes affiliated with Hartnup Disease

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Sources:
62Tocris Bioscience, 30IUPHAR, 25HMDB, 12DrugBank, 46Novoseek
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Compounds related to Hartnup Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-alanine62 30 25 1212.6SLC1A4, SLC36A1
2hydroxyproline46 25 1211.4SLC36A1, SLC1A4
3chlorine46 2510.3SLC6A19, ACE2
4gaba469.3SLC1A4, SLC5A1, SLC36A1
5glutamine469.0SLC1A4, SLC1A5, SLC5A1
6glutamate468.8SLC1A5, SLC6A19, SLC1A4, SLC5A1
7alanine468.6SLC5A1, SLC1A4, SLC36A1, SLC1A5
8sodium46 259.5SLC1A5, SLC5A1, SLC6A20, SLC6A19, SLC1A4
9serine468.2SLC36A1, SLC1A4, SLC5A1, SLC1A5

GO Terms for genes affiliated with Hartnup Disease

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17Gene Ontology
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Cellular components related to Hartnup Disease according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1melanosomeGO:0424709.4SLC1A5, SLC1A4
2integral component of plasma membraneGO:0058878.0SLC1A5, SLC6A19, SLC6A20, SLC1A4, SLC5A1
3extracellular vesicular exosomeGO:0700627.3TMEM27, ACE2, SLC6A19, SLC1A4, SLC5A1, SLC1A5
4plasma membraneGO:0058866.8SLC1A5, SLC5A1, SLC1A4, ACE2, SLC6A19, SLC36A1

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

idNameGO IDScoreTop Affiliating Genes
1proline transportGO:0158249.6SLC1A4, SLC6A20
2glutamine transportGO:0068689.1SLC1A5, SLC1A4
3amino acid transportGO:0068658.2SLC1A5, SLC1A4, SLC6A19, SLC36A1, SLC6A20
4ion transportGO:0068118.2SLC6A20, SLC36A1, SLC6A19, SLC1A4, SLC1A5
5transmembrane transportGO:0550857.6SLC6A20, SLC36A1, SLC6A19, SLC1A4, SLC5A1, SLC1A5

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

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1L-proline transmembrane transporter activityGO:0151939.7SLC1A4, SLC36A1
2neurotransmitter:sodium symporter activityGO:0053289.7SLC6A19, SLC6A20
3L-alanine transmembrane transporter activityGO:0151809.6SLC36A1, SLC1A4
4L-serine transmembrane transporter activityGO:0151949.6SLC1A4, SLC1A5
5L-glutamine transmembrane transporter activityGO:0151869.5SLC1A4, SLC1A5
6neutral amino acid transmembrane transporter activityGO:0151759.5SLC1A5, SLC6A19
7sodium:dicarboxylate symporter activityGO:0171539.5SLC1A4, SLC1A5
8peptidyl-dipeptidase activityGO:0082419.4ACE2, TMEM27
9metallopeptidase activityGO:0082379.1ACE2, TMEM27
10virus receptor activityGO:0016188.7SLC1A5, ACE2

Products for genes affiliated with Hartnup Disease

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  • Antibodies
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Sources for Hartnup Disease

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet