HND
MCID: HRT031
MIFTS: 52

Hartnup Disorder (HND)

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

Aliases & Classifications for Hartnup Disorder

MalaCards integrated aliases for Hartnup Disorder:

Name: Hartnup Disorder 57 20 43 58 73 36 13 39
Hartnup Disease 57 12 74 20 43 58 44 15 71
Neutral 1 Amino Acid Transport Defect 12 29 6
Hnd 57 20 73
Neutral Amino Acid Transport Defect 12 43
Disorder of Neutral Amino Acid Transport 58
Deficiency of Tryptophan Oxygenase 12
Aminoaciduria, Hartnup Type 58
Hartnup's Disease 43

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive


HPO:

31
hartnup disorder:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism


Summaries for Hartnup Disorder

GARD : 20 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.

MalaCards based summary : Hartnup Disorder, also known as hartnup disease, is related to aminoaciduria and cystinuria, and has symptoms including seizures An important gene associated with Hartnup Disorder is SLC6A19 (Solute Carrier Family 6 Member 19), and among its related pathways/superpathways are Protein digestion and absorption and Mineral absorption. Affiliated tissues include Kidney, eye and cerebellum, and related phenotypes are hyperreflexia and eeg abnormality

Disease Ontology : 12 An amino acid metabolic disorder that is 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.

MedlinePlus Genetics : 43 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.People with Hartnup disease have high levels of various amino acids in their urine (aminoaciduria). For most affected individuals, this is the only sign of the condition. However, some people with Hartnup disease have episodes during which they exhibit other signs, which can include skin rashes; difficulty coordinating movements (cerebellar ataxia); and psychiatric symptoms, such as depression or psychosis. These episodes are typically temporary and are often triggered by illness, stress, nutrient-poor diet, or fever. These features tend to go away once the trigger is remedied, although the aminoaciduria remains. In affected individuals, signs and symptoms most commonly occur in childhood.

OMIM® : 57 Hartnup disorder (HND) is characterized by transient manifestations of pellagra, cerebellar ataxia, and psychosis. It is caused by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa (summary by Kleta et al., 2004). (234500) (Updated 05-Mar-2021)

KEGG : 36 Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia, and renal aminoaciduria. It is caused by hereditary abnormalities in the neutral amino acid transporter B0AT1 (SLC6A19) in apical membrane.

UniProtKB/Swiss-Prot : 73 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 : 74 Hartnup disease (also known as "pellagra-like dermatosis" and "Hartnup disorder") is an autosomal... more...

Related Diseases for Hartnup Disorder

Diseases related to Hartnup Disorder via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 49)
# Related Disease Score Top Affiliating Genes
1 aminoaciduria 30.5 SLC6A19 SLC3A1 CLTRN
2 cystinuria 28.8 SLC7A8 SLC7A7 SLC6A19 SLC3A2 SLC3A1 SLC1A7
3 hyper ige syndrome 11.1
4 ataxia and polyneuropathy, adult-onset 10.3
5 exanthem 10.2
6 pellagra 10.2
7 fanconi-like syndrome 10.2 SLC6A18 CLTRN
8 hyperglycinuria 10.1 SLC6A20 SLC6A19 SLC6A18
9 posterior urethral valves 10.1 SLC3A1 ACE2
10 autosomal recessive disease 10.1
11 acrodermatitis enteropathica, zinc-deficiency type 10.1
12 diarrhea 10.1
13 acrodermatitis 10.1
14 enteropathica 10.1
15 ureteral disease 10.0 SLC3A2 SLC3A1 SLC1A7
16 extrahepatic bile duct adenocarcinoma 10.0 SLC7A8 SLC1A7
17 iminoglycinuria 10.0 SLC6A20 SLC6A19 SLC6A18 SLC36A1
18 dowling-degos disease 1 10.0
19 diffuse alopecia areata 10.0
20 angular cheilitis 10.0
21 glossitis 10.0
22 cheilitis 10.0
23 conjunctivitis 10.0
24 alopecia 10.0
25 type 2 diabetes mellitus 10.0
26 hyperglycemia 10.0
27 attention deficit-hyperactivity disorder 10.0
28 phenylketonuria 10.0
29 hydrocephalus 10.0
30 methylmalonic acidemia 10.0
31 hyperphenylalaninemia 10.0
32 seizure disorder 10.0
33 celiac disease 1 9.9
34 hypophosphatemia 9.9
35 rickets 9.9
36 kwashiorkor 9.9
37 dermatitis 9.9
38 tic disorder 9.9
39 bruxism 9.9
40 dystonia 9.9
41 inherited metabolic disorder 9.9
42 hydroa vacciniforme 9.9
43 amino acid metabolic disorder 9.9 SLC7A7 SLC6A19 SLC3A1 SLC1A7
44 developmental and epileptic encephalopathy 3 9.8 SLC6A18 SLC6A15 SLC38A8
45 allan-herndon-dudley syndrome 9.8 SLC7A8 SLC1A7
46 hyperekplexia 3 9.8 SLC6A5 SLC38A8
47 hyperekplexia 9.6 SLC6A5 SLC6A19 SLC6A18 SLC6A15 SLC6A14 SLC1A7
48 lysinuric protein intolerance 9.6 SLC7A8 SLC7A7 SLC3A2 SLC3A1 SLC1A7
49 persistent fetal circulation syndrome 9.6 SLC7A8 SLC38A2 SLC1A7

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



Diseases related to Hartnup Disorder

Symptoms & Phenotypes for Hartnup Disorder

Human phenotypes related to Hartnup Disorder:

58 31 (show all 33)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 emotional lability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000712
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 hallucinations 58 31 hallmark (90%) Very frequent (99-80%) HP:0000738
6 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
7 migraine 58 31 hallmark (90%) Very frequent (99-80%) HP:0002076
8 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
9 neutral hyperaminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0008353
10 abnormal urinary color 58 31 hallmark (90%) Very frequent (99-80%) HP:0012086
11 hypotonia 31 hallmark (90%) HP:0001252
12 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
13 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
14 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
15 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
16 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
17 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
18 encephalitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002383
19 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
20 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
21 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
22 gingivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000230
23 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
24 abnormal blistering of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008066
25 glossitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000206
26 seizure 31 occasional (7.5%) HP:0001250
27 seizures 58 Occasional (29-5%)
28 muscular hypotonia 58 Very frequent (99-80%)
29 hypertonia 31 HP:0001276
30 abnormality of the eye 58 Frequent (79-30%)
31 abnormality of vision 58 Frequent (79-30%)
32 psychosis 31 HP:0000709
33 episodic ataxia 31 HP:0002131

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Neurologic Central Nervous System:
seizures
hypertonia
intermittent cerebellar ataxia
delayed cognitive development

Laboratory Abnormalities:
neutral hyperaminoaciduria

Skin Nails Hair Skin:
light-sensitive dermatitis

Neurologic Peripheral Nervous System:
increased deep tendon reflexes

Neurologic Behavioral Psychiatric Manifestations:
psychosis
emotional instability

Growth Height:
short stature (in some patients)

Head And Neck Mouth:
atrophic glossitis (rare)

Clinical features from OMIM®:

234500 (Updated 05-Mar-2021)

UMLS symptoms related to Hartnup Disorder:


seizures

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased Salmonella enterica Typhimurium invasion GR00133-A-1 8.8 ACE2 SLC38A2 SLC6A14

MGI Mouse Phenotypes related to Hartnup Disorder:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.17 ACE2 CLTRN SLC36A1 SLC3A1 SLC6A18 SLC6A19

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:

# Genetic test Affiliating Genes
1 Neutral 1 Amino Acid Transport Defect 29 SLC6A19

Anatomical Context for Hartnup Disorder

MalaCards organs/tissues related to Hartnup Disorder:

40
Eye, Cerebellum, Skin, Kidney, Small Intestine
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hartnup Disorder:
# Tissue Anatomical CompartmentCell Relevance
1 Kidney Proximal Tubule Proximal Tubule Cells Affected by disease, potential therapeutic candidate

Publications for Hartnup Disorder

Articles related to Hartnup Disorder:

(show top 50) (show all 143)
# Title Authors PMID Year
1
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. 61 57 6
20399395 2010
2
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. 61 57 6
15286788 2004
3
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. 6 57 61
15286787 2004
4
Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. 61 57
11394870 2001
5
A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport. 61 57
9060408 1997
6
Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse. 57 61
9060407 1997
7
[Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions]. 61 57
2582682 1989
8
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. 57 61
3578280 1987
9
Maternal Hartnup disorder. 61 57
3728570 1986
10
Occurrences of methylmalonic aciduria and Hartnup disorder in the same family. 61 57
6478642 1984
11
Natural history of Hartnup disease. 61 57
836052 1977
12
Studies of intestinal transport defect in Hartnup disease. 61 57
5157127 1971
13
Hartnup disease in two Colombian siblings. 61 57
5813128 1969
14
Hartnup disorder in a New England family. 61 57
5647741 1968
15
Effects of amino acid loads on a health infant with the biochemical features of Hartnup disease. 61 57
6073838 1967
16
HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS. 57 61
14324515 1965
17
CLINICAL AND BIOCHEMICAL FEATURES OF A CASE OF HARTNUP DISEASE. 57 61
14085009 1964
18
Hartnup disease. 57 61
13871450 1962
19
The metabolic disorder in Hartnup disease. 61 57
13770962 1960
20
Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study. 57
1473543 1992
21
Massachusetts metabolic disorders screening program. I. Technics and results of urine screening. 57
5041315 1972
22
Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. 57
13358233 1956
23
ACE2 and gut amino acid transport. 61
33140827 2020
24
COVID-19 and Hartnup disease: an affair of intestinal amino acid malabsorption. 61
32691334 2020
25
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio. 61
31908951 2020
26
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. 61
31520464 2019
27
Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 61
31268507 2019
28
Identification and Characterization of Inhibitors of a Neutral Amino Acid Transporter, SLC6A19, Using Two Functional Cell-Based Assays. 61
30589598 2019
29
Amino Acid Transport Across the Mammalian Intestine. 61
30549024 2018
30
Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors. 61
25534429 2015
31
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease. 61
25526748 2014
32
Rare mutations associating with serum creatinine and chronic kidney disease. 61
25082825 2014
33
ACE2 - from the renin-angiotensin system to gut microbiota and malnutrition. 61
23962453 2013
34
Diseases associated with general amino acid transporters of the solute carrier 6 family (SLC6). 61
23876153 2013
35
Ataxia. 61
23622331 2013
36
Defective intestinal amino acid absorption in Ace2 null mice. 61
22790597 2012
37
Collectrin and ACE2 in renal and intestinal amino acid transport. 61
21814048 2011
38
Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse. 61
21636576 2011
39
Amino acid absorption and homeostasis in mice lacking the intestinal peptide transporter PEPT1. 61
21350187 2011
40
Hartnup disease masked by kwashiorkor. 61
20824986 2010
41
Angiotensin-converting enzyme 2 (ACE2) in disease pathogenesis. 61
20134095 2010
42
[Toward a more rational field-genetic epidemiology]. 61
20134107 2010
43
The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19. 61
20511718 2010
44
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. 61
19472175 2009
45
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. 61
19335424 2009
46
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 61
19185582 2009
47
Further evidence for allelic heterogeneity in Hartnup disorder. 61
18484095 2008
48
A protein complex in the brush-border membrane explains a Hartnup disorder allele. 61
18424768 2008
49
Aminoacidurias: Clinical and molecular aspects. 61
18200002 2008
50
Apical transporters for neutral amino acids: physiology and pathophysiology. 61
18400692 2008

Variations for Hartnup Disorder

ClinVar genetic disease variations for Hartnup Disorder:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A19 NM_001003841.3(SLC6A19):c.1173+2T>G SNV Pathogenic 449553 rs142979576 5:1217062-1217062 5:1216947-1216947
2 SLC6A19 NM_001003841.3(SLC6A19):c.882_883TG[1] (p.Val295fs) Microsatellite Pathogenic 2018 rs778611489 5:1214175-1214176 5:1214060-1214061
3 SLC6A19 NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) SNV Pathogenic 2019 rs121434346 5:1212453-1212453 5:1212338-1212338
4 SLC6A19 NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter) SNV Pathogenic 2020 rs121434347 5:1213632-1213632 5:1213517-1213517
5 SLC6A19 NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu) SNV Pathogenic 916043 5:1216693-1216693 5:1216578-1216578
6 SLC6A19 NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs) Insertion Pathogenic 916044 5:1221901-1221902 5:1221786-1221787
7 SLC6A19 NM_001003841.3(SLC6A19):c.532C>T (p.Arg178Ter) SNV Pathogenic 917714 5:1212468-1212468 5:1212353-1212353
8 SLC6A19 NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) SNV Pathogenic 2019 rs121434346 5:1212453-1212453 5:1212338-1212338
9 SLC6A19 NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg) SNV Uncertain significance 638526 rs1298382357 5:1222002-1222002 5:1221887-1221887
10 SLC6A19 NM_001003841.3(SLC6A19):c.1603C>T (p.Arg535Cys) SNV Uncertain significance 973458 5:1221330-1221330 5:1221215-1221215
11 SLC6A19 NM_001003841.3(SLC6A19):c.712C>T (p.Leu238Phe) SNV Uncertain significance 973486 5:1213626-1213626 5:1213511-1213511
12 SLC6A19 NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys) SNV Uncertain significance 523051 rs1554035332 5:1219704-1219704 5:1219589-1219589

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

73 (show all 14)
# Symbol AA change Variation ID SNP ID
1 SLC6A19 p.Arg57Cys VAR_023314 rs762989809
2 SLC6A19 p.Asp173Asn VAR_023315 rs121434346
3 SLC6A19 p.Arg240Gln VAR_023316 rs758492838
4 SLC6A19 p.Leu242Pro VAR_023317 rs200745023
5 SLC6A19 p.Glu501Lys VAR_023319 rs123685201
6 SLC6A19 p.Gly66Arg VAR_081070 rs125109599
7 SLC6A19 p.Ala69Thr VAR_081071
8 SLC6A19 p.Gly93Arg VAR_081072 rs757679627
9 SLC6A19 p.Pro265Leu VAR_081074 rs148139045
10 SLC6A19 p.Gly284Arg VAR_081075 rs200842846
11 SLC6A19 p.Arg328Cys VAR_081076 rs142164435
12 SLC6A19 p.Glu405Lys VAR_081077 rs765501634
13 SLC6A19 p.Asp517Gly VAR_081078 rs745524993
14 SLC6A19 p.Pro579Leu VAR_081079 rs751554174

Expression for Hartnup Disorder

Search GEO for disease gene expression data for Hartnup Disorder.

Pathways for Hartnup Disorder

Pathways related to Hartnup Disorder according to KEGG:

36
# Name Kegg Source Accession
1 Protein digestion and absorption hsa04974
2 Mineral absorption hsa04978

Pathways related to Hartnup Disorder according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 SLC7A8 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18
2
Show member pathways
12.59 SLC7A8 SLC7A7 SLC6A19 SLC3A2 SLC3A1 SLC38A2
3 11.9 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A15 SLC6A14
4
Show member pathways
11.29 SLC7A8 SLC7A7 SLC6A20 SLC6A19 SLC6A18 SLC6A15
5 10.91 SLC7A8 SLC7A7 SLC3A2

GO Terms for Hartnup Disorder

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

# Name GO ID Score Top Affiliating Genes
1 membrane GO:0016020 10.26 SLC7A8 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18
2 plasma membrane GO:0005886 10.11 SLC7A8 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18
3 extracellular exosome GO:0070062 10.06 SLC6A19 SLC6A14 SLC3A2 SLC3A1 SLC1A5 SLC1A4
4 apical plasma membrane GO:0016324 9.87 SLC7A8 SLC6A20 SLC6A19 SLC6A18 SLC3A2 SLC15A1
5 integral component of plasma membrane GO:0005887 9.77 SLC7A8 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18
6 brush border membrane GO:0031526 9.67 SLC6A19 SLC6A18 SLC3A1 ACE2
7 integral component of membrane GO:0016021 9.62 SLC7A8 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18
8 melanosome GO:0042470 9.61 SLC3A2 SLC1A5 SLC1A4
9 basal plasma membrane GO:0009925 9.58 SLC7A8 SLC3A2 SLC1A5

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

(show all 31)
# Name GO ID Score Top Affiliating Genes
1 ion transport GO:0006811 10.09 SLC6A15 SLC38A8 SLC38A2 SLC36A1 SLC1A7 SLC15A1
2 transmembrane transport GO:0055085 10.09 SLC7A8 SLC7A7 SLC6A20 SLC6A19 SLC6A15 SLC25A45
3 sodium ion transport GO:0006814 9.82 SLC6A15 SLC38A8 SLC38A2
4 sodium ion transmembrane transport GO:0035725 9.8 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A15 SLC6A14
5 neurotransmitter transport GO:0006836 9.78 SLC6A5 SLC6A18 SLC6A15
6 glutamine transport GO:0006868 9.71 SLC38A2 SLC1A5 SLC1A4
7 amino acid import across plasma membrane GO:0089718 9.71 SLC7A8 SLC6A20 SLC6A14 SLC36A1
8 L-serine transport GO:0015825 9.7 SLC38A2 SLC1A5 SLC1A4
9 proline transmembrane transport GO:0035524 9.69 SLC7A8 SLC36A1 SLC1A4
10 alanine transport GO:0032328 9.67 SLC6A14 SLC38A2 SLC36A1
11 glycine transport GO:0015816 9.67 SLC7A8 SLC6A5 SLC6A20 SLC36A1
12 glutamate secretion GO:0014047 9.65 SLC38A2 SLC1A7
13 tryptophan transport GO:0015827 9.65 SLC7A8 SLC3A2 ACE2
14 amino acid transmembrane transport GO:0003333 9.65 SLC7A8 SLC7A7 SLC6A19 SLC6A18 SLC6A15 SLC6A14
15 L-alpha-amino acid transmembrane transport GO:1902475 9.64 SLC7A7 SLC3A2
16 L-amino acid transport GO:0015807 9.64 SLC7A8 SLC7A7
17 neurotransmitter uptake GO:0001504 9.63 SLC6A5 SLC1A7
18 regulation of transmembrane transporter activity GO:0022898 9.63 CLTRN ACE2
19 L-alanine import across plasma membrane GO:1904273 9.63 SLC7A8 SLC3A2 SLC1A4
20 neutral amino acid transport GO:0015804 9.63 SLC7A8 SLC6A19 SLC6A15 SLC38A2 SLC36A1 SLC1A5
21 L-alanine transport GO:0015808 9.62 SLC36A1 SLC1A4
22 basic amino acid transmembrane transport GO:1990822 9.62 SLC7A7 SLC3A1
23 proline transport GO:0015824 9.62 SLC6A20 SLC6A15 SLC36A1 SLC1A4
24 L-aspartate import across plasma membrane GO:0140009 9.6 SLC1A5 SLC1A4
25 leucine transport GO:0015820 9.59 SLC7A8 SLC6A15
26 L-cystine transport GO:0015811 9.58 SLC3A1 SLC1A4
27 L-leucine import across plasma membrane GO:1903801 9.58 SLC7A8 SLC3A2
28 leucine import across plasma membrane GO:0098713 9.57 SLC7A8 SLC3A2
29 positive regulation of L-proline import across plasma membrane GO:1905737 9.56 CLTRN ACE2
30 positive regulation of amino acid transport GO:0051957 9.55 CLTRN ACE2
31 amino acid transport GO:0006865 9.5 SLC7A8 SLC7A7 SLC6A20 SLC6A19 SLC6A18 SLC6A15

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 symporter activity GO:0015293 9.73 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A15 SLC6A14
2 neutral amino acid transmembrane transporter activity GO:0015175 9.7 SLC7A8 SLC6A20 SLC6A19 SLC3A2 SLC36A1 SLC1A5
3 glycine transmembrane transporter activity GO:0015187 9.61 SLC7A8 SLC6A5 SLC36A1
4 L-glutamine transmembrane transporter activity GO:0015186 9.58 SLC38A2 SLC1A5 SLC1A4
5 L-alanine transmembrane transporter activity GO:0015180 9.56 SLC7A8 SLC3A2 SLC36A1 SLC1A4
6 L-amino acid transmembrane transporter activity GO:0015179 9.55 SLC7A8 SLC7A7
7 basic amino acid transmembrane transporter activity GO:0015174 9.54 SLC7A7 SLC3A1
8 L-serine transmembrane transporter activity GO:0015194 9.54 SLC38A2 SLC1A5 SLC1A4
9 L-aspartate transmembrane transporter activity GO:0015183 9.52 SLC1A5 SLC1A4
10 L-leucine transmembrane transporter activity GO:0015190 9.51 SLC7A8 SLC3A2
11 L-proline transmembrane transporter activity GO:0015193 9.5 SLC6A20 SLC36A1 SLC1A4
12 alanine transmembrane transporter activity GO:0022858 9.49 SLC6A14 SLC36A1
13 L-cystine transmembrane transporter activity GO:0015184 9.48 SLC3A1 SLC1A4
14 proline:sodium symporter activity GO:0005298 9.46 SLC6A20 SLC6A15
15 amino acid transmembrane transporter activity GO:0015171 9.4 SLC7A8 SLC6A20 SLC6A19 SLC6A18 SLC6A15 SLC6A14

Sources for Hartnup Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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