HND
MCID: HRT031
MIFTS: 50

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 56 52 25 58 73 36 13 39
Hartnup Disease 56 12 74 52 25 58 43 15 71
Neutral 1 Amino Acid Transport Defect 12 29 6
Hnd 56 52 73
Neutral Amino Acid Transport Defect 12 25
Disorder of Neutral Amino Acid Transport 58
Deficiency of Tryptophan Oxygenase 12
Aminoaciduria, Hartnup Type 58
Hartnup's Disease 25

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:

56
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

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. 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.

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, skin and eye, and related phenotypes are muscular hypotonia and hallucinations

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.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

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 46)
# Related Disease Score Top Affiliating Genes
1 aminoaciduria 30.3 SLC6A19 SLC3A1 CLTRN
2 cystinuria 28.4 SLC7A7 SLC6A19 SLC3A2 SLC3A1 SLC1A7 SLC1A5
3 hyper ige syndrome 11.3
4 hyperglycemia 10.3
5 ataxia and polyneuropathy, adult-onset 10.3
6 exanthem 10.3
7 pellagra 10.3
8 autosomal recessive disease 10.2
9 acrodermatitis enteropathica, zinc-deficiency type 10.2
10 diarrhea 10.2
11 acrodermatitis 10.2
12 enteropathica 10.2
13 dowling-degos disease 1 10.1
14 diffuse alopecia areata 10.1
15 angular cheilitis 10.1
16 glossitis 10.1
17 cheilitis 10.1
18 conjunctivitis 10.1
19 alopecia 10.1
20 fanconi-like syndrome 10.1 SLC6A18 CLTRN
21 attention deficit-hyperactivity disorder 10.0
22 phenylketonuria 10.0
23 hydrocephalus 10.0
24 visual epilepsy 10.0
25 methylmalonic acidemia 10.0
26 hyperphenylalaninemia 10.0
27 seizure disorder 10.0
28 migraine with or without aura 1 10.0
29 celiac disease 1 10.0
30 hypophosphatemia 10.0
31 rickets 10.0
32 kwashiorkor 10.0
33 dermatitis 10.0
34 tic disorder 10.0
35 bruxism 10.0
36 dystonia 10.0
37 inherited metabolic disorder 10.0
38 hydroa vacciniforme 10.0
39 hyperglycinuria 9.9 SLC6A20 SLC6A19 SLC6A18
40 posterior urethral valves 9.9 SLC3A1 ACE2
41 hypotonia-cystinuria syndrome 9.7 SLC3A1 SLC1A7
42 iminoglycinuria 9.7 SLC6A20 SLC6A19 SLC6A18 SLC36A1
43 ureteral disease 9.6 SLC3A2 SLC3A1 SLC1A7
44 amino acid metabolic disorder 9.5 SLC7A7 SLC6A19 SLC3A1 SLC1A7
45 lysinuric protein intolerance 9.3 SLC7A7 SLC3A2 SLC3A1 SLC1A7
46 hyperekplexia 9.1 SLC6A5 SLC6A18 SLC6A14 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 32)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 muscular hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001252
2 hallucinations 58 31 hallmark (90%) Very frequent (99-80%) HP:0000738
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001251
5 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
6 hyperreflexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001347
7 anxiety 58 31 hallmark (90%) Very frequent (99-80%) HP:0000739
8 migraine 58 31 hallmark (90%) Very frequent (99-80%) HP:0002076
9 emotional lability 58 31 hallmark (90%) Very frequent (99-80%) HP:0000712
10 neutral hyperaminoaciduria 58 31 hallmark (90%) Very frequent (99-80%) HP:0008353
11 abnormal urinary color 58 31 hallmark (90%) Very frequent (99-80%) HP:0012086
12 malabsorption 58 31 frequent (33%) Frequent (79-30%) HP:0002024
13 photophobia 58 31 frequent (33%) Frequent (79-30%) HP:0000613
14 skin rash 58 31 frequent (33%) Frequent (79-30%) HP:0000988
15 nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0000639
16 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
17 intellectual disability 58 31 occasional (7.5%) Occasional (29-5%) HP:0001249
18 global developmental delay 58 31 occasional (7.5%) Occasional (29-5%) HP:0001263
19 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
20 abnormal blistering of the skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0008066
21 gingivitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000230
22 hypopigmented skin patches 58 31 occasional (7.5%) Occasional (29-5%) HP:0001053
23 irregular hyperpigmentation 58 31 occasional (7.5%) Occasional (29-5%) HP:0007400
24 encephalitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002383
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 hypertonia 31 HP:0001276
29 abnormality of the eye 58 Frequent (79-30%)
30 abnormality of vision 58 Frequent (79-30%)
31 psychosis 31 HP:0000709
32 episodic ataxia 31 HP:0002131

Symptoms via clinical synopsis from OMIM:

56
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

UMLS symptoms related to Hartnup Disorder:


seizures

MGI Mouse Phenotypes related to Hartnup Disorder:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 renal/urinary system MP:0005367 9.1 ACE2 CLTRN SLC3A1 SLC6A18 SLC6A19 SLC7A7

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
Skin, Kidney, Eye, Testes, Cerebellum, 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 141)
# Title Authors PMID Year
1
Mutations in SLC6A19, encoding B0AT1, cause Hartnup disorder. 61 56 6
15286787 2004
2
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19. 61 6 56
15286788 2004
3
Novel mutation in SLC6A19 causing late-onset seizures in Hartnup disorder. 56 61
20399395 2010
4
Homozygosity mapping to chromosome 5p15 of a gene responsible for Hartnup disorder. 56 61
11394870 2001
5
Genetic mapping of hph2, a mutation affecting amino acid transport in the mouse. 56 61
9060407 1997
6
A candidate mouse model for Hartnup disorder deficient in neutral amino acid transport. 61 56
9060408 1997
7
[Adult-onset Hartnup disease presenting with neuropsychiatric symptoms but without skin lesions]. 56 61
2582682 1989
8
The Hartnup phenotype: Mendelian transport disorder, multifactorial disease. 61 56
3578280 1987
9
Maternal Hartnup disorder. 56 61
3728570 1986
10
Occurrences of methylmalonic aciduria and Hartnup disorder in the same family. 56 61
6478642 1984
11
Natural history of Hartnup disease. 56 61
836052 1977
12
Studies of intestinal transport defect in Hartnup disease. 61 56
5157127 1971
13
Hartnup disease in two Colombian siblings. 56 61
5813128 1969
14
Hartnup disorder in a New England family. 61 56
5647741 1968
15
Effects of amino acid loads on a health infant with the biochemical features of Hartnup disease. 56 61
6073838 1967
16
HARTNUP DISEASE: A GENETIC MODIFICATION OF INTESTINAL AND RENAL TRANSPORT OF CERTAIN NEUTRAL ALPHA-AMINO ACIDS. 56 61
14324515 1965
17
CLINICAL AND BIOCHEMICAL FEATURES OF A CASE OF HARTNUP DISEASE. 61 56
14085009 1964
18
Hartnup disease. 56 61
13871450 1962
19
The metabolic disorder in Hartnup disease. 56 61
13770962 1960
20
Hartnup syndrome, progressive encephalopathy and allo-albuminaemia. A clinico-pathological case study. 56
1473543 1992
21
Massachusetts metabolic disorders screening program. I. Technics and results of urine screening. 56
5041315 1972
22
Hereditary pellagra-like skin rash with temporary cerebellar ataxia, constant renal amino-aciduria, and other bizarre biochemical features. 56
13358233 1956
23
Accurate discrimination of Hartnup disorder from other aminoacidurias using a diagnostic ratio. 61
31908951 2020
24
Loss of CLTRN function produces a neuropsychiatric disorder and a biochemical phenotype that mimics Hartnup disease. 61
31520464 2019
25
Association of Schizophrenia Risk With Disordered Niacin Metabolism in an Indian Genome-wide Association Study. 61
31268507 2019
26
Identification and Characterization of Inhibitors of a Neutral Amino Acid Transporter, SLC6A19, Using Two Functional Cell-Based Assays. 61
30589598 2019
27
Amino Acid Transport Across the Mammalian Intestine. 61
30549024 2018
28
Human intestine luminal ACE2 and amino acid transporter expression increased by ACE-inhibitors. 61
25534429 2015
29
Severe persistent unremitting dermatitis, chronic diarrhea and hypoalbuminemia in a child; Hartnup disease in setting of celiac disease. 61
25526748 2014
30
Rare mutations associating with serum creatinine and chronic kidney disease. 61
25082825 2014
31
ACE2 - from the renin-angiotensin system to gut microbiota and malnutrition. 61
23962453 2013
32
Diseases associated with general amino acid transporters of the solute carrier 6 family (SLC6). 61
23876153 2013
33
Ataxia. 61
23622331 2013
34
Defective intestinal amino acid absorption in Ace2 null mice. 61
22790597 2012
35
Collectrin and ACE2 in renal and intestinal amino acid transport. 61
21814048 2011
36
Impaired nutrient signaling and body weight control in a Na+ neutral amino acid cotransporter (Slc6a19)-deficient mouse. 61
21636576 2011
37
Amino acid absorption and homeostasis in mice lacking the intestinal peptide transporter PEPT1. 61
21350187 2011
38
Hartnup disease masked by kwashiorkor. 61
20824986 2010
39
Angiotensin-converting enzyme 2 (ACE2) in disease pathogenesis. 61
20134095 2010
40
The serum and glucocorticoid inducible kinases SGK1-3 stimulate the neutral amino acid transporter SLC6A19. 61
20511718 2010
41
[Toward a more rational field-genetic epidemiology]. 61
20134107 2010
42
The role of the neutral amino acid transporter B0AT1 (SLC6A19) in Hartnup disorder and protein nutrition. 61
19472175 2009
43
A novel missense mutation in the SLC6A19 gene in a Chinese family with Hartnup disorder. 61
19335424 2009
44
Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations. 61
19185582 2009
45
Further evidence for allelic heterogeneity in Hartnup disorder. 61
18484095 2008
46
A protein complex in the brush-border membrane explains a Hartnup disorder allele. 61
18424768 2008
47
Apical transporters for neutral amino acids: physiology and pathophysiology. 61
18400692 2008
48
Aminoacidurias: Clinical and molecular aspects. 61
18200002 2008
49
Amino acid transport across mammalian intestinal and renal epithelia. 61
18195088 2008
50
Hartnup disease. 61
19967017 2008

Variations for Hartnup Disorder

ClinVar genetic disease variations for Hartnup Disorder:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SLC6A19 NM_001003841.3(SLC6A19):c.908C>T (p.Ser303Leu)SNV Pathogenic 916043 5:1216693-1216693 5:1216578-1216578
2 SLC6A19 NM_001003841.3(SLC6A19):c.1787_1788insG (p.Ile597fs)insertion Pathogenic 916044 5:1221901-1221902 5:1221786-1221787
3 SLC6A19 NM_001003841.3(SLC6A19):c.882_883TG[1] (p.Val295fs)short repeat Pathogenic 2018 rs778611489 5:1214175-1214176 5:1214060-1214061
4 SLC6A19 NM_001003841.3(SLC6A19):c.1173+2T>GSNV Pathogenic 449553 rs142979576 5:1217062-1217062 5:1216947-1216947
5 SLC6A19 NM_001003841.3(SLC6A19):c.718C>T (p.Arg240Ter)SNV Pathogenic 2020 rs121434347 5:1213632-1213632 5:1213517-1213517
6 SLC6A19 NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn)SNV Conflicting interpretations of pathogenicity 2019 rs121434346 5:1212453-1212453 5:1212338-1212338
7 SLC6A19 NM_001003841.3(SLC6A19):c.1463A>G (p.Tyr488Cys)SNV Uncertain significance 523051 rs1554035332 5:1219704-1219704 5:1219589-1219589
8 SLC6A19 NM_001003841.3(SLC6A19):c.1888G>A (p.Gly630Arg)SNV Uncertain significance 638526 5:1222002-1222002 5:1221887-1221887

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
12.9 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14
2
Show member pathways
12.48 SLC7A7 SLC6A19 SLC3A2 SLC3A1 SLC36A1 SLC1A5
3 11.82 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14
4
Show member pathways
10.84 SLC7A7 SLC6A20 SLC6A19 SLC6A18 SLC6A14 SLC3A2
5 10.74 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 10.13 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14
2 extracellular exosome GO:0070062 10.01 SLC6A19 SLC6A14 SLC3A2 SLC3A1 SLC1A5 SLC1A4
3 integral component of plasma membrane GO:0005887 9.92 SLC7A7 SLC6A20 SLC6A19 SLC6A18 SLC3A1 SLC1A5
4 integral component of membrane GO:0016021 9.83 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14
5 apical plasma membrane GO:0016324 9.77 SLC6A20 SLC6A19 SLC6A18 SLC3A2 SLC15A1
6 melanosome GO:0042470 9.61 SLC3A2 SLC1A5 SLC1A4
7 plasma membrane GO:0005886 9.5 SLC7A7 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14
8 vacuolar membrane GO:0005774 9.46 SLC3A1 SLC36A1
9 brush border membrane GO:0031526 9.46 SLC6A19 SLC6A18 SLC3A1 ACE2

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

(show all 19)
# Name GO ID Score Top Affiliating Genes
1 transmembrane transport GO:0055085 9.92 SLC7A7 SLC6A20 SLC6A19 SLC6A18 SLC1A7 SLC1A5
2 neurotransmitter transport GO:0006836 9.65 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14
3 neutral amino acid transport GO:0015804 9.63 SLC6A19 SLC36A1 SLC1A5
4 glycine transport GO:0015816 9.61 SLC6A5 SLC6A20 SLC36A1
5 L-alpha-amino acid transmembrane transport GO:1902475 9.58 SLC7A7 SLC3A2
6 neurotransmitter uptake GO:0001504 9.58 SLC6A5 SLC1A7
7 proline transport GO:0015824 9.58 SLC6A20 SLC36A1 SLC1A4
8 glutamine transport GO:0006868 9.57 SLC1A5 SLC1A4
9 L-serine transport GO:0015825 9.56 SLC1A5 SLC1A4
10 amino acid transmembrane transport GO:0003333 9.56 SLC7A7 SLC6A20 SLC6A19 SLC6A18 SLC6A14 SLC3A1
11 L-alanine transport GO:0015808 9.55 SLC36A1 SLC1A4
12 transport GO:0006810 9.55 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14
13 basic amino acid transmembrane transport GO:1990822 9.54 SLC7A7 SLC3A1
14 proline transmembrane transport GO:0035524 9.54 SLC6A20 SLC36A1 SLC1A4
15 L-aspartate import across plasma membrane GO:0140009 9.52 SLC1A5 SLC1A4
16 L-cystine transport GO:0015811 9.51 SLC3A1 SLC1A4
17 tryptophan transport GO:0015827 9.49 SLC3A2 ACE2
18 positive regulation of amino acid transport GO:0051957 9.48 CLTRN ACE2
19 amino acid transport GO:0006865 9.32 SLC7A7 SLC6A20 SLC6A19 SLC6A18 SLC6A14 SLC3A2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 neurotransmitter:sodium symporter activity GO:0005328 9.65 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14
2 amino acid transmembrane transporter activity GO:0015171 9.56 SLC6A20 SLC6A19 SLC6A18 SLC6A14 SLC3A1 SLC36A1
3 neutral amino acid transmembrane transporter activity GO:0015175 9.55 SLC6A19 SLC3A2 SLC36A1 SLC1A5 SLC1A4
4 L-aspartate transmembrane transporter activity GO:0015183 9.51 SLC1A5 SLC1A4
5 L-proline transmembrane transporter activity GO:0015193 9.5 SLC6A20 SLC36A1 SLC1A4
6 glycine transmembrane transporter activity GO:0015187 9.49 SLC6A5 SLC36A1
7 L-glutamine transmembrane transporter activity GO:0015186 9.48 SLC1A5 SLC1A4
8 basic amino acid transmembrane transporter activity GO:0015174 9.46 SLC7A7 SLC3A1
9 L-serine transmembrane transporter activity GO:0015194 9.43 SLC1A5 SLC1A4
10 L-alanine transmembrane transporter activity GO:0015180 9.4 SLC36A1 SLC1A4
11 L-cystine transmembrane transporter activity GO:0015184 9.37 SLC3A1 SLC1A4
12 symporter activity GO:0015293 9.32 SLC6A5 SLC6A20 SLC6A19 SLC6A18 SLC6A14 SLC36A1

Sources for Hartnup Disorder

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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