Hartnup disorder

Preferred Label : Hartnup disorder;

Symbol : HND;

CISMeF acronym : HND;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hartnup disease;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the system B(0) neutral amino acid transporter-1 gene (SLC6A19, 608893.0001);

Laboratory abnormalities : Neutral hyperaminoaciduria;

Prefixed ID : #234500;

Details

Origin ID

234500;

UMLS CUI

C0018609;

Automatic exact mappings (from CISMeF team)
- SLC6A19 wt Allele [NCIt concept]
- Tooth and Nail Syndrome [NCIt concept]
- solute carrier family 6 member 19 [ORDO Gene]
- solute carrier family 6 member 19 [HGNC gene]
Currated CISMeF NLP mapping
- Cystine urine present [MedDRA Preferred Term]
- Cystinosis [ORDO Disease]
- Cystinosis [MedDRA Preferred Term]
- Cystinuria [ICD-11 Subcategory]
- Cystinuria [NCIt concept]
- Cystinuria [ORDO Disease]
- Cystinuria [PASCAL descriptor]
- Cystinuria [MedDRA Preferred Term]
- Cystinuria [HPO term]
- Cystinuria (disorder) [SNOMED CT concept]
- Disorder of amino acid absorption and transport [ORDO Disease]
- Disorders of amino-acid transport [ICD-10 Sub-category]
- Disorders of amino-acid transport [ICD-10 Sub-category (who)]
- Hartnup Disease [NCIt concept]
- Hartnup disease [DO Concept]
- Hartnup disease [PASCAL descriptor]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disease [ORDO Disease]
- Hartnup syndrome [ICD-11 More detail]
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
- cystinosis [MeSH Descriptor]
- cystinosis [Disease (Nov.)]
- cystinuria [MeSH Descriptor]
- cystinuria [DO Concept]
- cystinuria [MeSH concept]
- cystinuria [CISMeF Querying Strategy]
- cystinuria [Disease (Nov.)]
- cystinuria, nos [SNOMED Notion]
- cystinuria, type A [MeSH concept]
- hartnup disease [MeSH Descriptor]
- hartnup disease [MeSH concept]
- neutral 1 amino acid transport defect [SNOMED Notion]
DO Cross reference
- Hartnup disease [DO Concept]
False automatic mappings
- Honduras [NCIt concept]
Genes related to phenotype
- Solute carrier family 6 (neurotransmitter transporter), member 19 [OMIM gene]
HPO term(s)
- Autosomal recessive inheritance [HPO term]
- Cutaneous photosensitivity [HPO term]
- Emotional lability [HPO term]
- Episodic ataxia [HPO term]
- Global developmental delay [HPO term]
- Glossitis [HPO term]
- Hyperreflexia [HPO term]
- Hypertonia [HPO term]
- Intermittent cerebellar ataxia [HPO term]
- Neutral hyperaminoaciduria [HPO term]
- Psychosis [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
ORDO concept(s)
- Hartnup disease [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Deficiency of tryptophan 2,3-dioxygenase (disorder) [SNOMED CT concept]
- Disorder of neutral amino acid transport [ORDO Disease]
- Hartnup Disease [NCIt concept]
- Hartnup disease [MedDRA Preferred Term]
- Hartnup disease [ORDO Disease]
- Hartnup disease [DO Concept]
- Hartnup syndrome [ICD-11 More detail]
- Neutral 1 amino acid transport defect (disorder) [SNOMED CT concept]
- Neutral amino acid transport defect [ICD-11 More detail]
- hartnup disease [MeSH Descriptor]
- hartnup disease [MeSH concept]
- neutral 1 amino acid transport defect [SNOMED Notion]
Validated automatic mappings to NTBT
- Neutral amino acid transport defect [ICD-11 More detail]

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