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Disease Hartnup Disease

Name Hartnup Disease
Synonyms Amino Acid Transport Disorder, Neutral | HARTNUP DISEASE | Hartnup Disorder | HND | Neutral Amino Acid Transport Defect | Neutral Amino Acid Transport Disorder | Transport Disorder, Neutral Amino Acid | Transport Disorder, Neutral Amino Acids
Definition An autosomal recessive disorder due to defective absorption of NEUTRAL AMINO ACIDS by both the intestine and the PROXIMAL RENAL TUBULES. The abnormal urinary loss of TRYPTOPHAN, a precursor of NIACIN, leads to a NICOTINAMIDE deficiency, PELLAGRA-like light-sensitive rash, CEREBELLAR ATAXIA, emotional instability, and aminoaciduria. Mutations involve the neurotransmitter transporter gene SLC6A19.
Categories Genetic disease (inborn) | Metabolic disease | Nervous system disease | Urogenital disease (female) | Urogenital disease (male)
MeSH® ID D006250
OMIM® ID 234500
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1. DiseasesNervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Central Nervous System Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes
2. DiseasesMale Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Renal Aminoacidurias Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes
3. DiseasesFemale Urogenital Diseases and Pregnancy Complications Has associated chemicals Has associated genes Has associated exposure references Female Urogenital Diseases Has associated chemicals Has associated genes Has associated exposure references Urologic Diseases Has associated chemicals Has associated genes Has associated exposure references Kidney Diseases Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Renal Aminoacidurias Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes
4. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Transport Disorders, Inborn Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes
5. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes
6. DiseasesCongenital, Hereditary, and Neonatal Diseases and Abnormalities Has associated chemicals Has associated genes Has associated exposure references Genetic Diseases, Inborn Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Renal Tubular Transport, Inborn Errors Has associated chemicals Has associated genes Renal Aminoacidurias Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes
7. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic Has associated chemicals Has associated genes Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes
8. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Amino Acid Transport Disorders, Inborn Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes
9. DiseasesNutritional and Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolic Diseases Has associated chemicals Has associated genes Has associated exposure references Metabolism, Inborn Errors Has associated chemicals Has associated genes Has associated exposure references Brain Diseases, Metabolic, Inborn Has associated chemicals Has associated genes Hartnup Disease Has associated chemicals Has associated genes

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None.