Hartnup Disorder malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Nephrological diseases, Skin diseases, Metabolic diseases
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
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Aliases & Descriptions for Hartnup Disorder:
Orphanet epidemiological data:51
Inheritance: Autosomal recessive; Prevalence: 1-9/100000 (Worldwide),1-9/100000 (United States); Age of onset: All ages; Age of death: normal life expectancy
Inheritance: autosomal recessive inheritance
Global: Genetic diseases, Rare diseases, Metabolic diseases
Anatomical: Neuronal diseases, Nephrological diseases, Skin diseases
ICD10: 28 27
Rare neurological diseases
Rare renal diseases
Rare skin diseases
Inborn errors of metabolism
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
Symptoms by clinical synopsis from OMIM:234500
Clinical features from OMIM:234500
Symptoms:51 (show all 26)
HPO human phenotypes related to Hartnup Disorder:(show all 32)
MalaCards organs/tissues related to Hartnup Disorder:33
Skin, Eye, Kidney, Cerebellum, Testes, Breast, T cells
Data from LifeMap, the Embryonic Development and Stem Cells Database
Cells/anatomical compartments in embryo or adult related to Hartnup Disorder:
Articles related to Hartnup Disorder:(show all 19)
UniProtKB/Swiss-Prot genetic disease variations for Hartnup Disorder:67
Clinvar genetic disease variations for Hartnup Disorder:5
Search GEO for disease gene expression data for Hartnup Disorder.
Pathways related to Hartnup Disorder according to GeneCards Suite gene sharing:
Biological processes related to Hartnup Disorder according to GeneCards Suite gene sharing:
Molecular functions related to Hartnup Disorder according to GeneCards Suite gene sharing:
28ICD10 via Orphanet
37MESH via Orphanet
50OMIM via Orphanet
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
66UMLS via Orphanet