HND
MCID: HRT004
MIFTS: 60

Hartnup Disease (HND) malady

Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Metabolic diseases categories
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Summaries for Hartnup Disease

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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 based summary: Hartnup Disease, also known as hartnup disorder, is related to cystinuria and pellagra, and has symptoms including skin photosensitivity, abnormal colour of the urine/cholic/dark urines and facial pain/cephalalgia/migraine. 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:65 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:
30LifeMap Discovery®, 8Disease Ontology, 42NIH Rare Diseases, 10DISEASES, 48Orphanet, 62UMLS, 22GTR, 9diseasecard, 20GeneTests, 46OMIM, 39NCIt, 57SNOMED-CT, 34MeSH, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet
See all sources

Hartnup Disease, Aliases & Descriptions:

Name: Hartnup Disease 30 8 42 10 48 62
Hartnup Disorder 9 42 20 46 48 62
Neutral 1 Amino Acid Transport Defect 8 22 62
Neutral Amino Acid Transport Defect 8 62
 
Deficiency of Tryptophan Oxygenase 8 62
Aminoaciduria, Hartnup Type 48
Tryptophan Oxygenase 9
Hnd 42


Classifications:



Characteristics (Orphanet epidemiological data):

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


External Ids:

Disease Ontology8 DOID:1060
NCIt39 C84748
MeSH34 D006250
OMIM46 234500
SNOMED-CT57 124208000, 80902009
MESH via Orphanet35 D006250
ICD10 via Orphanet26 E72.0
UMLS via Orphanet63 C0018609

Related Diseases for Hartnup Disease

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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
1cystinuria30.7SLC1A5
2pellagra30.0SLC1A5, SLC6A19
3iminoglycinuria10.1SLC36A1
4iminoglycinuria, digenic10.1SLC6A19, SLC6A20
5arteriovenous fistula10.1
6acrodermatitis10.1
7hereditary spherocytosis10.1
8kwashiorkor10.1
9acrodermatitis enteropathica10.1
10dystonia10.1
11enteropathica10.1
12hydroa vacciniforme10.1
13hyperglycinuria10.1SLC6A19, SLC6A20

Graphical network of diseases related to Hartnup Disease:



Diseases related to hartnup disease

Symptoms for Hartnup Disease

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Symptoms by clinical synopsis from OMIM:

234500

Clinical features from OMIM:

234500

Symptoms:

48 (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 Disease:

(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 Disease

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Drug clinical trials:

Search ClinicalTrials for Hartnup Disease

Search NIH Clinical Center for Hartnup Disease

Genetic Tests for Hartnup Disease

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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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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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MGI Mouse Phenotypes related to Hartnup Disease:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053759.2SLC5A1, SLC6A19, TMEM27
2MP:00053678.1SLC5A1, SLC6A19, ACE2, TMEM27

Publications for Hartnup Disease

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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
Acrodermatitis enteropathica-like eruptions in a child with Hartnup disease. (16780476)
2006
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. (8125700)
1993
8
Hartnup disease: MR findings. (1950900)
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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UniProtKB/Swiss-Prot genetic disease variations for Hartnup Disease:

64
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:

6
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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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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Pathways related to Hartnup Disease according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SLC5A1, SLC6A19
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:
61Tocris Bioscience, 28IUPHAR, 24HMDB, 11DrugBank, 44Novoseek
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Compounds related to Hartnup Disease according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1l-alanine61 28 24 1112.6SLC1A4, SLC36A1
2hydroxyproline44 24 1111.4SLC36A1, SLC1A4
3chlorine44 2410.3SLC6A19, ACE2
4gaba449.3SLC1A4, SLC5A1, SLC36A1
5glutamine449.0SLC1A4, SLC1A5, SLC5A1
6glutamate448.8SLC1A5, SLC6A19, SLC1A4, SLC5A1
7alanine448.6SLC5A1, SLC1A4, SLC36A1, SLC1A5
8sodium44 249.5SLC1A5, SLC5A1, SLC6A20, SLC6A19, SLC1A4
9serine448.2SLC36A1, SLC1A4, SLC5A1, SLC1A5

GO Terms for genes affiliated with Hartnup Disease

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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:0158249.6SLC6A20, SLC1A4
2glutamine transportGO:0068689.1SLC1A4, SLC1A5
3amino acid transportGO:0068658.2SLC6A19, SLC6A20, SLC36A1, SLC1A4, SLC1A5
4ion transportGO:0068118.2SLC1A5, SLC6A20, SLC36A1, SLC6A19, SLC1A4
5transmembrane transportGO:0550857.6SLC36A1, SLC6A19, SLC1A4, SLC5A1, SLC1A5, SLC6A20

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
  • Proteins
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet