HND
MCID: HRT031
MIFTS: 45

Hartnup Disorder (HND) malady

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

Aliases & Classifications for Hartnup Disorder

Aliases & Descriptions for Hartnup Disorder:

Name: Hartnup Disorder 54 50 25 56 66 13
Hartnup Disease 38 12 50 24 25 56 42 14 69
Neutral 1 Amino Acid Transport Defect 12 29
Neutral Amino Acid Transport Defect 12 25
Hnd 50 66
Deficiency of Tryptophan Oxygenase 12
Aminoaciduria, Hartnup Type 56
Tryptophan Oxygenase 13
Hartnup's Disease 25

Characteristics:

Orphanet epidemiological data:

56
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:

32
hartnup disorder:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 234500
Disease Ontology 12 DOID:1060
ICD10 33 E72.02
MeSH 42 D006250
NCIt 47 C84748
SNOMED-CT 64 124208000 80902009
Orphanet 56 ORPHA2116
MESH via Orphanet 43 D006250
UMLS via Orphanet 70 C0018609
ICD10 via Orphanet 34 E72.0
MedGen 40 C0018609
UMLS 69 C0018609

Summaries for Hartnup Disorder

NIH Rare Diseases : 50 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 histiocytosis-lymphadenopathy plus syndrome and pellagra, and has symptoms including ataxia, seizures and photophobia. An important gene associated with Hartnup Disorder is SLC6A19 (Solute Carrier Family 6 Member 19), and among its related pathways/superpathways are Transport of glucose and other sugars, bile salts and organic acids, metal ions and amine compounds and NRF2 pathway. Affiliated tissues include Kidney, skin and eye, and related phenotype is Increased shRNA abundance (Z-score > 2).

Disease Ontology : 12 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 : 25 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 : 66 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 : 71 Hartnup disease (also known as \"pellagra-like dermatosis\" and \"Hartnup disorder\") is an autosomal... more...

Description from OMIM: 234500

Related Diseases for Hartnup Disorder

Graphical network of the top 20 diseases related to Hartnup Disorder:



Diseases related to Hartnup Disorder

Symptoms & Phenotypes for Hartnup Disorder

Symptoms by clinical synopsis from OMIM:

234500

Clinical features from OMIM:

234500

Human phenotypes related to Hartnup Disorder:

56 32 (show all 31)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ataxia 56 32 Very frequent (99-80%) HP:0001251
2 seizures 56 32 Occasional (29-5%) HP:0001250
3 photophobia 56 32 Frequent (79-30%) HP:0000613
4 nystagmus 56 32 Frequent (79-30%) HP:0000639
5 emotional lability 56 32 Very frequent (99-80%) HP:0000712
6 intellectual disability 56 32 Occasional (29-5%) HP:0001249
7 muscular hypotonia 56 32 Very frequent (99-80%) HP:0001252
8 hyperreflexia 56 32 Very frequent (99-80%) HP:0001347
9 eeg abnormality 56 32 Very frequent (99-80%) HP:0002353
10 encephalitis 56 32 Occasional (29-5%) HP:0002383
11 hallucinations 56 32 Very frequent (99-80%) HP:0000738
12 global developmental delay 56 32 Occasional (29-5%) HP:0001263
13 malabsorption 56 32 Frequent (79-30%) HP:0002024
14 short stature 56 32 Occasional (29-5%) HP:0004322
15 abnormal blistering of the skin 56 32 Occasional (29-5%) HP:0008066
16 strabismus 56 32 Frequent (79-30%) HP:0000486
17 anxiety 56 32 Very frequent (99-80%) HP:0000739
18 hypopigmented skin patches 56 32 Occasional (29-5%) HP:0001053
19 migraine 56 32 Very frequent (99-80%) HP:0002076
20 irregular hyperpigmentation 56 32 Occasional (29-5%) HP:0007400
21 gingivitis 56 32 Occasional (29-5%) HP:0000230
22 skin rash 56 32 Frequent (79-30%) HP:0000988
23 cutaneous photosensitivity 56 32 Very frequent (99-80%) HP:0000992
24 glossitis 56 32 Occasional (29-5%) HP:0000206
25 neutral hyperaminoaciduria 56 32 Very frequent (99-80%) HP:0008353
26 abnormal urinary color 56 32 Very frequent (99-80%) HP:0012086
27 hypertonia 32 HP:0001276
28 abnormality of the eye 56 Frequent (79-30%)
29 abnormality of vision 56 Frequent (79-30%)
30 psychosis 32 HP:0000709
31 episodic ataxia 32 HP:0002131

UMLS symptoms related to Hartnup Disorder:


seizures

GenomeRNAi Phenotypes related to Hartnup Disorder according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.47 SLC6A20
2 Increased shRNA abundance (Z-score > 2) GR00366-A-114 9.47 SLC6A20 SLC6A18
3 Increased shRNA abundance (Z-score > 2) GR00366-A-120 9.47 SLC6A18
4 Increased shRNA abundance (Z-score > 2) GR00366-A-164 9.47 SLC6A18
5 Increased shRNA abundance (Z-score > 2) GR00366-A-166 9.47 SLC6A20
6 Increased shRNA abundance (Z-score > 2) GR00366-A-185 9.47 SLC6A18
7 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.47 SLC6A20
8 Increased shRNA abundance (Z-score > 2) GR00366-A-2 9.47 SLC6A18
9 Increased shRNA abundance (Z-score > 2) GR00366-A-23 9.47 SLC6A20
10 Increased shRNA abundance (Z-score > 2) GR00366-A-35 9.47 SLC6A18
11 Increased shRNA abundance (Z-score > 2) GR00366-A-43 9.47 SLC6A18
12 Increased shRNA abundance (Z-score > 2) GR00366-A-49 9.47 SLC6A18
13 Increased shRNA abundance (Z-score > 2) GR00366-A-81 9.47 SLC6A20

Drugs & Therapeutics for Hartnup Disorder

Search Clinical Trials , NIH Clinical Center for Hartnup Disorder

Cochrane evidence based reviews: hartnup disease

Genetic Tests for Hartnup Disorder

Genetic tests related to Hartnup Disorder:

id Genetic test Affiliating Genes
1 Neutral 1 Amino Acid Transport Defect 29
2 Hartnup Disease 24 SLC6A19

Anatomical Context for Hartnup Disorder

MalaCards organs/tissues related to Hartnup Disorder:

39
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 Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Potential therapeutic candidate, affected by disease

Publications for Hartnup Disorder

Articles related to Hartnup Disorder:

(show all 19)
id Title Authors Year
1
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. ( 20399395 )
2010
2
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. ( 19335424 )
2009
3
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. ( 19472175 )
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
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. ( 15286788 )
2004
9
Mutations in SLC6A19, encoding B(0)AT1, cause Hartnup disorder. ( 15286787 )
2004
10
Molecular cloning of mouse amino acid transport system B0, a neutral amino acid transporter related to Hartnup disorder. ( 15044460 )
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

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

66
id Symbol AA change Variation ID SNP ID
1 SLC6A19 p.Arg57Cys VAR_023314 rs762989809
2 SLC6A19 p.Asp173Asn VAR_023315 rs121434346
3 SLC6A19 p.Leu242Pro VAR_023317 rs200745023
4 SLC6A19 p.Glu501Lys VAR_023319

ClinVar genetic disease variations for Hartnup Disorder:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SLC6A19 SLC6A19, IVS8, T-G, +2 single nucleotide variant Pathogenic
2 SLC6A19 SLC6A19, 2-BP DEL, 884-885TG deletion Pathogenic
3 SLC6A19 NM_001003841.2(SLC6A19): c.517G> A (p.Asp173Asn) single nucleotide variant Pathogenic/Likely pathogenic rs121434346 GRCh37 Chromosome 5, 1212453: 1212453
4 SLC6A19 NM_001003841.2(SLC6A19): c.718C> T (p.Arg240Ter) single nucleotide variant Pathogenic rs121434347 GRCh37 Chromosome 5, 1213632: 1213632

Expression for Hartnup Disorder

Search GEO for disease gene expression data for Hartnup Disorder.

Pathways for Hartnup Disorder

GO Terms for Hartnup Disorder

Cellular components related to Hartnup Disorder according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integral component of membrane GO:0016021 9.63 RNF128 SLC1A4 SLC6A18 SLC6A19 SLC6A20 TMEM27
2 integral component of plasma membrane GO:0005887 9.26 SLC1A4 SLC6A18 SLC6A19 SLC6A20
3 brush border membrane GO:0031526 8.8 SLC6A18 SLC6A19 TMEM27

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

id Name GO ID Score Top Affiliating Genes
1 transport GO:0006810 9.67 SLC1A4 SLC6A18 SLC6A19 SLC6A20
2 transmembrane transport GO:0055085 9.5 SLC1A4 SLC6A19 SLC6A20
3 neurotransmitter transport GO:0006836 9.33 SLC6A18 SLC6A19 SLC6A20
4 proline transport GO:0015824 9.26 SLC1A4 SLC6A20
5 amino acid transmembrane transport GO:0003333 9.13 SLC6A18 SLC6A19 SLC6A20
6 amino acid transport GO:0006865 8.92 SLC1A4 SLC6A18 SLC6A19 SLC6A20

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

id Name GO ID Score Top Affiliating Genes
1 neurotransmitter:sodium symporter activity GO:0005328 9.33 SLC6A18 SLC6A19 SLC6A20
2 neutral amino acid transmembrane transporter activity GO:0015175 9.26 SLC1A4 SLC6A19
3 symporter activity GO:0015293 9.26 SLC1A4 SLC6A18 SLC6A19 SLC6A20
4 amino acid transmembrane transporter activity GO:0015171 8.92 SLC1A4 SLC6A18 SLC6A19 SLC6A20

Sources for Hartnup Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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