MCID: HRT031
MIFTS: 47

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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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 51Orphanet, 67UniProtKB/Swiss-Prot, 32LifeMap Discovery®, 10Disease Ontology, 22GeneTests, 12DISEASES, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Hartnup Disorder:

Name: Hartnup Disorder 49 11 45 51 67 32
Hartnup Disease 32 10 45 22 12 51 36 65
Neutral 1 Amino Acid Transport Defect 10 24
Hnd 45 67
Hypoplastic Enamel-Onycholysis-Hypohidrosis Syndrome 65
 
Neutral Amino Acid Transport Defect 10
Deficiency of Tryptophan Oxygenase 10
Aminoaciduria, Hartnup Type 51
Tryptophan Oxygenase 11

Characteristics:

Orphanet epidemiological data:

51
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:

61
hartnup disorder:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 234500
Disease Ontology10 DOID:1060
ICD1027 E72.02
MeSH36 D006250
NCIt42 C84748
SNOMED-CT59 124208000, 80902009
Orphanet51 2116
ICD10 via Orphanet28 E72.0
MESH via Orphanet37 D006250
UMLS via Orphanet66 C0018609
MedGen34 C0018609
UMLS65 C0018609

Summaries for Hartnup Disorder

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NIH Rare Diseases:45 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 hereditary spherocytosis and pellagra, and has symptoms including eeg abnormality, incoordination and migraine. 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 kidney, and related mouse phenotype renal/urinary system.

Disease Ontology:10 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.

UniProtKB/Swiss-Prot:67 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.

Genetics Home Reference:23 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.

Wikipedia:68 Hartnup disease (also known as \"pellagra-like dermatosis\" and \"Hartnup disorder\") is an autosomal... more...

Description from OMIM:49 234500

Related Diseases for Hartnup Disorder

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Graphical network of the top 20 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:

 51 (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 Disorder:

(show all 32)
id Description Frequency HPO Source Accession
1 eeg abnormality hallmark (90%) HP:0002353
2 incoordination hallmark (90%) HP:0002311
3 migraine hallmark (90%) HP:0002076
4 hyperreflexia hallmark (90%) HP:0001347
5 muscular hypotonia hallmark (90%) HP:0001252
6 cutaneous photosensitivity hallmark (90%) HP:0000992
7 hallucinations hallmark (90%) HP:0000738
8 short stature typical (50%) HP:0004322
9 malabsorption typical (50%) HP:0002024
10 skin rash typical (50%) HP:0000988
11 nystagmus typical (50%) HP:0000639
12 photophobia typical (50%) HP:0000613
13 strabismus typical (50%) HP:0000486
14 cognitive impairment occasional (7.5%) HP:0100543
15 abnormal blistering of the skin occasional (7.5%) HP:0008066
16 irregular hyperpigmentation occasional (7.5%) HP:0007400
17 encephalitis occasional (7.5%) HP:0002383
18 seizures occasional (7.5%) HP:0001250
19 hypopigmented skin patches occasional (7.5%) HP:0001053
20 gingivitis occasional (7.5%) HP:0000230
21 glossitis occasional (7.5%) HP:0000206
22 glossitis rare (5%) HP:0000206
23 neutral hyperaminoaciduria HP:0008353
24 short stature HP:0004322
25 episodic ataxia HP:0002131
26 hyperreflexia HP:0001347
27 hypertonia HP:0001276
28 global developmental delay HP:0001263
29 seizures HP:0001250
30 cutaneous photosensitivity HP:0000992
31 emotional lability HP:0000712
32 psychosis HP:0000709

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 Hartnup Disease22 SLC6A19

Anatomical Context for Hartnup Disorder

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MalaCards organs/tissues related to Hartnup Disorder:

33
Skin, Eye, Kidney, Cerebellum, Testes, Breast, T cells

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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MGI Mouse Phenotypes related to Hartnup Disorder:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053679.4SLC6A18, SLC6A19, TMEM27

Publications for Hartnup Disorder

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Articles related to Hartnup Disorder:

(show all 19)
idTitleAuthorsYear
1
Basaloid squamous cell carcinoma of the maxilla: Report of a case and literature review. (25798549)
2015
2
Functional polymorphisms in BDNF and COMT genes are associated with objective differences in arithmetical functioning in a sample of young adults. (25358337)
2014
3
Silencing of miRNA-148a by hypermethylation activates the integrin-mediated signaling pathway in nasopharyngeal carcinoma. (25277193)
2014
4
Immunodeficiency due to mutations in ORAI1 and STIM1. (20189884)
2010
5
Genetic variants in the RELN gene are associated with otosclerosis in multiple European populations. (19847460)
2010
6
Human effector and memory CD8+ T cell responses to smallpox and yellow fever vaccines. (18468462)
2008
7
Plexiform neurofibroma of the penis associated with erectile dysfunction due to arterial steeling. (17961147)
2008
8
Ribavirin up-regulates the activity of double-stranded RNA-activated protein kinase and enhances the action of interferon-alpha against hepatitis C virus. (17597457)
2007
9
Update on actinic keratosis in clinical trial experience with imiquimod. (18067629)
2007
10
Recent advances in the treatment of delusional disorder. (16989110)
2006
11
Small interfering RNA knockdown of calcium-independent phospholipases A2 beta or gamma inhibits the hormone-induced differentiation of 3T3-L1 preadipocytes. (15024020)
2004
12
Outpatient experience with moderate dose bolus interleukin-2 in metastatic malignant melanoma and kidney cancer. (12806282)
2003
13
Lamina-specific synaptic activation causes domain-specific alterations in dendritic immunostaining for MAP2 and CAM kinase II. (10479686)
1999
14
Correlation between gamma-ray-induced G2 arrest and radioresistance in two human cancer cells. (10386649)
1999
15
Intercellular adhesion molecule 1 gene associations with immunologic subsets of inflammatory bowel disease. (7615193)
1995
16
Muscarinic receptor-dependent activation of phospholipase C in human fetal central nervous system organotypic tissue culture. (8925276)
1995
17
The response of breast cancer cells to steroid and peptide growth factors. (1444236)
1992
18
Chondroid chordoma presenting with hypopituitarism. (1300173)
1992
19
Factors affecting the prevalence of dental fluorosis in Luknow, India. (4156909)
1974

Variations for Hartnup Disorder

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UniProtKB/Swiss-Prot genetic disease variations for Hartnup Disorder:

67
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 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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Biological processes related to Hartnup Disorder according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1amino acid transmembrane transportGO:00033339.6SLC6A18, SLC6A19, SLC6A20
2ion transportGO:00068119.5SLC1A4, SLC6A19
3transmembrane transportGO:00550858.4SLC1A4, SLC6A18, SLC6A19, SLC6A20

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

idNameGO IDScoreTop Affiliating Genes
1amino acid transmembrane transporter activityGO:00151719.5SLC6A18, SLC6A19, SLC6A20
2protein bindingGO:00055158.2RNF128, SLC6A18, SLC6A19, SLC6A20

Sources for Hartnup Disorder

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet