MeSH Browser

MeSH Heading: Hartnup Disease
Tree Number(s): C10.228.140.163.100.355; C12.050.351.968.419.815.885.625; C12.200.777.419.815.885.457; C12.950.419.815.885.625; C16.320.565.151.355; C16.320.565.189.355; C16.320.831.885.457; C18.452.132.100.355; C18.452.648.151.355; C18.452.648.189.355
Unique ID: D006250
RDF Unique Identifier: http://id.nlm.nih.gov/mesh/D006250
Scope Note: 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.
Entry Version: HARTNUP DIS
Entry Term(s): Amino Acid Transport Disorder, Neutral; Hartnup Disorder; Neutral Amino Acid Transport Defect; Neutral Amino Acid Transport Disorder; Transport Disorder, Neutral Amino Acid; Transport Disorder, Neutral Amino Acids
Public MeSH Note: 1965
History Note: 1965
Date Established: 1965/01/01
Date of Entry: 1999/01/01
Revision Date: 2021/06/30

Allowable Qualifiers: blood (BL)

cerebrospinal fluid (CF)

chemically induced (CI)

classification (CL)

complications (CO)

diagnosis (DI)

diagnostic imaging (DG)

diet therapy (DH)

drug therapy (DT)

economics (EC)

embryology (EM)

enzymology (EN)

epidemiology (EP)

ethnology (EH)

etiology (ET)

genetics (GE)

history (HI)

immunology (IM)

metabolism (ME)

microbiology (MI)

mortality (MO)

nursing (NU)

parasitology (PS)

pathology (PA)

physiopathology (PP)

prevention & control (PC)

psychology (PX)

radiotherapy (RT)

rehabilitation (RH)

surgery (SU)

therapy (TH)

urine (UR)

veterinary (VE)

virology (VI)

Nervous System Diseases [C10]
- Central Nervous System Diseases [C10.228]
  - Brain Diseases [C10.228.140]
    - Brain Diseases, Metabolic [C10.228.140.163]
      - Brain Diseases, Metabolic, Inborn [C10.228.140.163.100]
        
        Adrenoleukodystrophy [C10.228.140.163.100.084]
        
        Cerebral Amyloid Angiopathy, Familial [C10.228.140.163.100.168]
        
        Galactosemias [C10.228.140.163.100.320]
        
        Hartnup Disease [C10.228.140.163.100.355]
        
        Hepatolenticular Degeneration [C10.228.140.163.100.360]
        
        Hereditary Central Nervous System Demyelinating Diseases [C10.228.140.163.100.362]
        
        Homocystinuria [C10.228.140.163.100.365]
        
        Hyperglycinemia, Nonketotic [C10.228.140.163.100.375]
        
        Hyperlysinemias [C10.228.140.163.100.380]
        
        Leigh Disease [C10.228.140.163.100.412]
        
        Lesch-Nyhan Syndrome [C10.228.140.163.100.425]
        
        Lysosomal Storage Diseases, Nervous System [C10.228.140.163.100.435]
        
        Maple Syrup Urine Disease [C10.228.140.163.100.520]
        
        MELAS Syndrome [C10.228.140.163.100.535]
        
        Menkes Kinky Hair Syndrome [C10.228.140.163.100.540]
        
        MERRF Syndrome [C10.228.140.163.100.545]
        
        Mevalonate Kinase Deficiency [C10.228.140.163.100.593]
        
        Oculocerebrorenal Syndrome [C10.228.140.163.100.640]
        
        Phenylketonurias [C10.228.140.163.100.687]
        
        Pyruvate Carboxylase Deficiency Disease [C10.228.140.163.100.725]
        
        Pyruvate Dehydrogenase Complex Deficiency Disease [C10.228.140.163.100.750]
        
        Refsum Disease [C10.228.140.163.100.813]
        
        Refsum Disease, Infantile [C10.228.140.163.100.844]
        
        Tyrosinemias [C10.228.140.163.100.875]
        
        Urea Cycle Disorders, Inborn [C10.228.140.163.100.937]
        
        Zellweger Syndrome [C10.228.140.163.100.968]

Urogenital Diseases [C12]
- Female Urogenital Diseases and Pregnancy Complications [C12.050]
  - Female Urogenital Diseases [C12.050.351]
    - Urologic Diseases [C12.050.351.968]
      - Kidney Diseases [C12.050.351.968.419]
        
        Renal Tubular Transport, Inborn Errors [C12.050.351.968.419.815]
        
        Renal Aminoacidurias [C12.050.351.968.419.815.885]
        
        Cystinuria [C12.050.351.968.419.815.885.250]
        
        Hartnup Disease [C12.050.351.968.419.815.885.625]

Urogenital Diseases [C12]
- Male Urogenital Diseases [C12.200]
  - Urologic Diseases [C12.200.777]
    - Kidney Diseases [C12.200.777.419]
      - Renal Tubular Transport, Inborn Errors [C12.200.777.419.815]
        
        Renal Aminoacidurias [C12.200.777.419.815.885]
        
        Cystinuria [C12.200.777.419.815.885.250]
        
        Hartnup Disease [C12.200.777.419.815.885.457]

Urogenital Diseases [C12]
- Urologic Diseases [C12.950]
  - Kidney Diseases [C12.950.419]
    - Renal Tubular Transport, Inborn Errors [C12.950.419.815]
      - Renal Aminoacidurias [C12.950.419.815.885]
        
        Cystinuria [C12.950.419.815.885.250]
        
        Hartnup Disease [C12.950.419.815.885.625]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Amino Acid Transport Disorders, Inborn [C16.320.565.151]
      - Hartnup Disease [C16.320.565.151.355]
      - Oculocerebrorenal Syndrome [C16.320.565.151.600]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Metabolism, Inborn Errors [C16.320.565]
    - Brain Diseases, Metabolic, Inborn [C16.320.565.189]

Congenital, Hereditary, and Neonatal Diseases and Abnormalities [C16]
- Genetic Diseases, Inborn [C16.320]
  - Renal Tubular Transport, Inborn Errors [C16.320.831]
    - Renal Aminoacidurias [C16.320.831.885]
      - Cystinuria [C16.320.831.885.250]
      - Hartnup Disease [C16.320.831.885.457]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Brain Diseases, Metabolic [C18.452.132]
    - Brain Diseases, Metabolic, Inborn [C18.452.132.100]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Amino Acid Transport Disorders, Inborn [C18.452.648.151]
      - Hartnup Disease [C18.452.648.151.355]
      - Oculocerebrorenal Syndrome [C18.452.648.151.600]

Nutritional and Metabolic Diseases [C18]
- Metabolic Diseases [C18.452]
  - Metabolism, Inborn Errors [C18.452.648]
    - Brain Diseases, Metabolic, Inborn [C18.452.648.189]

Hartnup Disease Preferred

Hartnup Disease MeSH Descriptor Data 2025