Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


Term:Hartnup disease
go back to main search page
Accession:DOID:1060 term browser browse the term
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.
Synonyms:exact_synonym: HND;   Hartnup Disorder;   Neutral Amino Acid Transport Defect;   Neutral Amino Acid Transport Disorder;   Transport Disorder, Neutral Amino Acids;   deficiency of tryptophan oxygenase;   neutral 1 amino acid transport defect
 primary_id: MESH:D006250
 alt_id: OMIM:234500;   RDO:0005715
 xref: GARD:6569;   ICD10CM:E72.02;   NCI:C84748
For additional species annotation, visit the Alliance of Genome Resources.

show annotations for term's descendants       view all columns           Sort by:
Hartnup disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Slc6a19 solute carrier family 6 member 19 JBrowse link 1 32,199,869 32,218,628 RGD:1600035

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Nutritional and Metabolic Diseases 4392
      disease of metabolism 4392
        Metabolic Brain Diseases 477
          Metabolic Brain Diseases, Inborn 411
            Hartnup disease 1
Path 2
Term Annotations click to browse term
  disease 15553
    Developmental Diseases 8823
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7613
        genetic disease 7096
          inherited metabolic disorder 1884
            renal tubular transport disease 88
              Renal Aminoacidurias 11
                Hartnup disease 1
paths to the root


RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.