HND
MCID: HRT004
MIFTS: 53

Hartnup Disease (HND) malady

Neuronal, Nephrological, Skin, Metabolic categories

Summaries for Hartnup Disease

Sources:
8Disease Ontology, 64Wikipedia, 47OMIM, 33MalaCards
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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 seizure disorder, and has symptoms including autosomal recessive inheritance, eeg anomalies and hypereflexia. 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 Mineral absorption. The compounds L-Cystine and bicarbonate have been mentioned in the context of this disorder. Affiliated tissues include cerebellum, and related mouse phenotypes are adipose tissue and renal/urinary system.

Wikipedia:64 Hartnup disease (also known as \"pellagra-like dermatosis\" and \"Hartnup disorder\") is an autosomal... more...

Description from OMIM:47 234500

Aliases & Classifications for Hartnup Disease

Sources:
8Disease Ontology, 9diseasecard, 43NIH Rare Diseases, 20GeneTests, 22GTR, 47OMIM, 10DISEASES, 49Orphanet, 61UMLS, 57SNOMED-CT, 35MeSH, 40NCIt, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal, Nephrological, Skin, Metabolic


Characteristics (Orphanet epidemiological data):

49
hartnup disorder:
Inheritance: Autosomal recessive; Prevalence: 1-9/100000; Age of onset: Variable; Age of death: Normal


Aliases & Descriptions:

hartnup disease 8 43 10 61
hartnup disorder 9 43 20 47 49
neutral 1 amino acid transport defect 8 22
neutral amino acid transport defect 8
deficiency of tryptophan oxygenase 8
aminoaciduria, hartnup type 49
tryptophan oxygenase 9
hartnup syndrome 49
hnd 43


External Ids:

Disease Ontology8 DOID:1060
OMIM47 234500
MeSH35 D006250
NCIt40 C84748
SNOMED-CT57 124208000, 80902009
MESH via Orphanet36 D006250
ICD10 via Orphanet26 E72.0
SNOMED-CT via Orphanet58 124208000, 80902009
UMLS via Orphanet62 C0018609

Related Diseases for Hartnup Disease

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show all 14)
idRelated DiseaseScoreTop Affiliating Genes
1cystinuria30.3SLC3A1, SLC1A5
2seizure disorder10.1
3acrodermatitis10.1
4kwashiorkor10.1
5hereditary spherocytosis10.1
6acrodermatitis enteropathica10.1
7enteropathica10.1
8hydroa vacciniforme10.1
9nutrition disease10.1
10iminoglycinuria10.0SLC36A1
11hyperglycinuria10.0SLC6A20, SLC6A19
12aminoaciduria10.0SLC6A19, SLC3A1
13pellagra10.0SLC1A5, SLC6A19
14iminoglycinuria, digenic10.0SLC6A20, SLC6A19

Graphical network of diseases related to Hartnup Disease:



Diseases related to hartnup disease

Clinical Features for Hartnup Disease

Sources:
47OMIM, 49Orphanet
See all sources

Clinical features from OMIM:

234500

Clinical synopsis from OMIM:

234500

Symptoms:

49 (show all 26)
  • autosomal recessive inheritance
  • 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
  • aminoacid metabolism anomalies/aminoaciduria
  • anomalies of eyes and vision
  • 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

Drugs & Therapeutics for Hartnup Disease

Sources:
5CenterWatch, 42NIH 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

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

Sources:
31LifeMap Discovery™, 33MalaCards
See all sources

MalaCards organs/tissues related to Hartnup Disease:

33
Cerebellum

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

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

Publications for Hartnup Disease

Sources:
51PubMed
See all sources

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
Spontaneous scalp arteriovenous fistula in a child with hartnup disease. (15174904)
2004
5
A clinicobiochemical study of tryptophan and other plasma and urinary amino acids in the family with Hartnup disease. (15206746)
2003
6
Hartnup disease presenting in an adult. (7955499)
1994
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
Circumvention of defective neutral amino acid transport in Hartnup disease using tryptophan ethyl ester. (2472426)
1989
11
Julius Caesar and the Julian emperors. A family cluster with Hartnup disease? (3532855)
1986
12
Treatment of Hartnup disease with nicotinic acid. (6236384)
1984
13
Hartnup disease (a case report). (7461844)
1980
14
Hartnup disease--a case report. (751957)
1978
15
Note on Hartnup disease. (735931)
1978
16
Proceedings: Absorption of amino acids and peptides in Hartnup disease. (4817256)
1974
17
Hartnup disease. A report on two siblings. (4761306)
1973
18
Absorption of amino acids and peptides in a child with a variant of Hartnup disease and coexistent coeliac disease. (5086513)
1972
19
Transport of dibasic amino acids, cystine, and tryptophan by cultured human fibroblasts: absence of a defect in cystinuria and Hartnup disease. (5054467)
1972
20
Studies of intestinal transport defect in Hartnup disease. (5157127)
1971
21
Hartnup disease. (5141735)
1971
22
Hartnup disease. A case report. (5532073)
1970
23
Intestinal absorption and biopsy transport of peptides and amino acids in Hartnup disease. (5493936)
1970
24
Studies on intestinal absorption of amino acids and a dipeptide in a case of Hartnup disease. (4246731)
1970
25
Intestinal absorption of two dipeptides in Hartnup disease. (5428040)
1970
26
Intestinal absorption of dipeptides and corresponding free amino acids in Hartnup disease. (5448166)
1970
27
Absorption of amino acids and the dipeptide, carnosine, from the gut in normal subjects and a case of Hartnup disease. (5359019)
1969
28
Hartnup disease in two Colombian siblings. (5813128)
1969
29
Hartnup disease. (4237364)
1969
30
Discussion of indole metabolism in Hartnup disease. (5658319)
1968
31
Histaminuria in Hartnup disease. (5706044)
1968
32
Indole metabolism in Hartnup disease. (4232128)
1968
33
Observations on nicotinic acid therapy in Hartnup disease. (6073833)
1967
34
Effects of amino acid loads on a health infant with the biochemical features of Hartnup disease. (6073838)
1967
35
Hartnup disease. (4228120)
1967
36
Clinical and biochemical observations in two cases of hartnup disease. (21032437)
1966
37
Hartnup disease in three siblings. (5927700)
1966
38
Tryptophan load and uptake of tryptophan by leukocytes in Hartnup disease. (4226466)
1966
39
HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS. (14324515)
1965
40
BIOCHEMICAL ASPECTS OF THE HARTNUP DISEASE. I. RESULTS OF INTRAVENOUS AND ORAL TRYPTOPHAN LOADING TESTS IN A CASE OF HARTNUP DISEASE. (14133234)
1964
41
CLINICAL AND BIOCHEMICAL FEATURES OF A CASE OF HARTNUP DISEASE. (14085009)
1964
42
HARTNUP DISEASE IN TWO SIBLINGS. CLINICAL OBSERVATIONS AND BIOCHEMICAL STUDIES. (14116920)
1964
43
BIOCHEMICAL ASPECTS OF THE HARTNUP DISEASE. III. GENERAL DISCUSSION AND CONCLUSIONS. (14168315)
1964
44
BIOCHEMICAL ASPECTS OF THE HARTNUP DISEASE. II. SOME OBSERVATIONS ON RATS ABOUT TRYPTOPHAN METABOLISM. (14135037)
1964
45
Stature and nutrition in cystinuria and Hartnup disease. (14022394)
1963
46
Hartnup disease. (13952238)
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

Genetic Variations for Hartnup Disease

Sources:
63UniProtKB/Swiss-Prot
See all sources

Genetic disease variations for Hartnup Disease:

63
id Symbol AA change Variation SNP ID
1SLC6A19p.Arg57CysVAR_023314
2SLC6A19p.Asp173AsnVAR_023315rs121434346
3SLC6A19p.Leu242ProVAR_023317
4SLC6A19p.Glu501LysVAR_023319

Expression for genes affiliated with Hartnup Disease

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 30KEGG, 12EMD Millipore
See all sources

Compounds for genes affiliated with Hartnup Disease

Sources:
11DrugBank, 24HMDB, 45Novoseek, 29IUPHAR, 60Tocris Bioscience
See all sources

Compounds related to Hartnup Disease according to GeneCards/GeneDecks:

(show all 11)
idCompoundScoreTop Affiliating Genes
1L-Cystine11 2410.8SLC3A1, SLC1A4
2bicarbonate459.6SLC36A1, SLC26A3
3l-alanine29 60 11 2412.5SLC36A1, SLC1A4
4chlorine45 2410.3ACE2, SLC26A3, SLC6A19
5hydroxyproline45 11 2411.3SLC36A1, SLC1A4
6gaba458.9SLC5A1, SLC1A4, SLC3A1, SLC36A1
7glutamine458.4SLC1A5, SLC1A4, SLC5A1
8glutamate458.2SLC5A1, SLC1A4, SLC6A19, SLC3A1, SLC1A5
9alanine458.0SLC5A1, SLC1A4, SLC3A1, SLC1A5, SLC36A1
10sodium45 248.9SLC1A5, SLC3A1, SLC6A20, SLC6A19, SLC1A4, SLC5A1
11serine457.8SLC5A1, SLC1A4, SLC3A1, SLC1A5, SLC36A1

GO Terms for genes affiliated with Hartnup Disease

Sources:
16Gene Ontology
See all sources

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:0033339.8SLC6A20, SLC3A1
2chloride transportGO:0068219.6SLC26A3, SLC1A4
3L-cystine transportGO:0158119.5SLC3A1, SLC1A4
4proline transportGO:0158249.3SLC6A20, SLC1A4
5glutamine transportGO:0068689.2SLC1A4, SLC1A5
6amino acid transportGO:0068657.8SLC36A1, SLC1A5, SLC3A1, SLC6A20, SLC6A19, SLC1A4
7ion transportGO:0068117.4SLC1A4, SLC6A19, SLC6A20, SLC26A3, SLC3A1, SLC1A5
8transmembrane transportGO:0550857.0SLC5A1, SLC1A4, SLC6A19, SLC6A20, SLC26A3, SLC3A1

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

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Hartnup Disease

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet