MCID: HRT031
MIFTS: 45

Hartnup Disorder malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Metabolic diseases

Aliases & Classifications for Hartnup Disorder

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Aliases & Descriptions for Hartnup Disorder:

Name: Hartnup Disorder 50 46 24 52 68 12 33
Hartnup Disease 33 11 46 23 24 13 52 37 66
Neutral 1 Amino Acid Transport Defect 11 25
Neutral Amino Acid Transport Defect 11 24
Hnd 46 68
 
Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome 66
Deficiency of Tryptophan Oxygenase 11
Aminoaciduria, Hartnup Type 52
Tryptophan Oxygenase 12
Hartnup's Disease 24

Characteristics:

Orphanet epidemiological data:

52
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

HPO:

62
hartnup disorder:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM50 234500
Disease Ontology11 DOID:1060
ICD1028 E72.02
MeSH37 D006250
NCIt43 C84748
SNOMED-CT60 124208000, 80902009
Orphanet52 ORPHA2116
ICD10 via Orphanet29 E72.0
MESH via Orphanet38 D006250
UMLS via Orphanet67 C0018609
MedGen35 C0018609

Summaries for Hartnup Disorder

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NIH Rare Diseases:46 Hartnup disease is a metabolic disorder characterized by abnormal transport of certain amino acids in the kidney and gastrointestinal system. it is a type of aminoaciduria. the condition may be diagnosed based on the results of newborn screening tests. most people with the condition have no symptoms (asymptomatic). for those who do show symptoms, the onset of the disease is usually between the ages of 3 and 9; occasionally the disease may present in adulthood. mental development is usually normal, though a few cases with intellectual impairment have been reported. the signs and symptoms of hartnup disease incude skin photosensitivity, neurologic findings, psychiatric symptoms, and ocular (eye) findings. hartnup disease is caused by mutations in the slc6a19 gene and is inherited in an autosomal recessive manner. people with hartnup disease may benefit from a high-protein diet, protection from sunlight, vitamin supplementation, and avoidance of certain drugs/medications. in some cases, treatment with nicotinamide supplements and tryptophan ethyl ester may be indicated. last updated: 12/17/2015

MalaCards based summary: Hartnup Disorder, also known as hartnup disease, is related to cystinuria and pellagra, and has symptoms including hallucinations, cutaneous photosensitivity and muscular hypotonia. An important gene associated with Hartnup Disorder is SLC6A19 (Solute Carrier Family 6 Member 19), and among its related pathways is Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds. Affiliated tissues include skin, eye and testes.

Disease Ontology:11 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.

Genetics Home Reference:24 Hartnup disease is a condition caused by the body's inability to absorb certain protein building blocks (amino acids) from the diet. As a result, affected individuals are not able to use these amino acids to produce other substances, such as vitamins and proteins. Most people with Hartnup disease are able to get the vitamins and other substances they need with a well-balanced diet.

UniProtKB/Swiss-Prot:68 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.

Wikipedia:69 Hartnup disease (also known as \"pellagra-like dermatosis\" and \"Hartnup disorder\") is an autosomal... more...

Description from OMIM:50 234500

Related Diseases for Hartnup Disorder

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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:

 52 (show all 28)
  • glossitis
  • gingivitis
  • abnormality of the eye
  • strabismus
  • abnormality of vision
  • photophobia
  • nystagmus
  • emotional lability
  • hallucinations
  • anxiety
  • skin rash
  • cutaneous photosensitivity
  • hypopigmented skin patches
  • intellectual disability
  • seizures
  • ataxia
  • muscular hypotonia
  • global developmental delay
  • hyperreflexia
  • malabsorption
  • migraine
  • eeg abnormality
  • encephalitis
  • short stature
  • irregular hyperpigmentation
  • abnormal blistering of the skin
  • neutral hyperaminoaciduria
  • abnormal urinary color

HPO human phenotypes related to Hartnup Disorder:

(show all 32)
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 psychosis HP:0000709
24 emotional lability HP:0000712
25 cutaneous photosensitivity HP:0000992
26 seizures HP:0001250
27 global developmental delay HP:0001263
28 hypertonia HP:0001276
29 hyperreflexia HP:0001347
30 episodic ataxia HP:0002131
31 short stature HP:0004322
32 neutral hyperaminoaciduria HP:0008353

UMLS symptoms related to Hartnup Disorder:


seizures, juvenile spring eruption, koilonychia

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 Neutral 1 Amino Acid Transport Defect25
2 Hartnup Disease23 SLC6A19

Anatomical Context for Hartnup Disorder

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MalaCards organs/tissues related to Hartnup Disorder:

34
Skin, Eye, Testes, Kidney, Cerebellum

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
Further evidence for allelic heterogeneity in Hartnup disorder. (18484095)
2008
5
A protein complex in the brush-border membrane explains a Hartnup disorder allele. (18424768)
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
Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder. (15286787)
2004
9
Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder. (15044460)
2004
10
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. (15286788)
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:

68
id Symbol AA change Variation ID SNP ID
1SLC6A19p.Arg57CysVAR_023314rs762989809
2SLC6A19p.Asp173AsnVAR_023315rs121434346
3SLC6A19p.Leu242ProVAR_023317rs200745023
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:00315269.1SLC6A18, SLC6A19, TMEM27
2integral component of plasma membraneGO:00058878.2SLC1A4, SLC6A18, SLC6A19, SLC6A20

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

idNameGO IDScoreTop Affiliating Genes
1proline transportGO:00158249.5SLC1A4, SLC6A20
2amino acid transmembrane transportGO:00033339.0SLC6A18, SLC6A19, SLC6A20
3neurotransmitter transportGO:00068369.0SLC6A18, SLC6A19, SLC6A20
4amino acid transportGO:00068658.2SLC1A4, SLC6A18, SLC6A19, SLC6A20

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

idNameGO IDScoreTop Affiliating Genes
1neutral amino acid transmembrane transporter activityGO:00151759.7SLC1A4, SLC6A19
2neurotransmitter:sodium symporter activityGO:00053288.7SLC6A18, SLC6A19, SLC6A20
3amino acid transmembrane transporter activityGO:00151718.5SLC1A4, SLC6A18, SLC6A19, SLC6A20

Sources for Hartnup Disorder

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet