Leptin receptor deficiency

Preferred Label : Leptin receptor deficiency;

Symbol : LEPRD;

CISMeF acronym : LEPRD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Obesity, morbid;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leptin receptor gene (LEPR, 601007.0001);

Prefixed ID : #614963;

Details

Origin ID

614963;

UMLS CUI

C3554225;

Automatic exact mappings (from CISMeF team)
- LEPR wt Allele [NCIt concept]
- Morbid Obesity [NCIt concept]
- Morbid obesity [MedDRA LLT]
- Morbid obesity [ICD-9 code]
- Morbid obesity (disorder) [SNOMED CT concept]
- Obesity in adults with BMI greater than or equal to 40.00 [ICD-11 More detail]
- congenital leptin deficiency [DO Concept]
- morbid obesity [DO Concept]
- morbid obesity [Artificial nutrition thesaurus concept]
- obesity, morbid [MeSH concept]
- obesity, morbid [MeSH Descriptor]
Currated CISMeF NLP mapping
- Leptin Receptor Deficiency [NCIt concept]
- Leptin receptor deficiency [MedDRA Preferred Term]
- Obesity due to leptin receptor gene deficiency [ICD-11 More detail]
- Obesity due to leptin receptor gene deficiency [ORDO Disease]
- Obesity due to leptin receptor gene deficiency (disorder) [SNOMED CT concept]
Genes related to phenotype
- Leptin receptor [OMIM gene]
HPO term(s)
- Abnormal eating behavior [HPO term]
- Abnormal hypothalamus morphology [HPO term]
- Aggressive behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased response to growth hormone stimulation test [HPO term]
- Delayed puberty [HPO term]
- Diabetes mellitus [HPO term]
- Hypergonadotropic hypogonadism [HPO term]
- Immune dysregulation [HPO term]
- Obesity [HPO term]
- Pituitary hypothyroidism [HPO term]
- Polyphagia [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
- Short stature [HPO term]
Not associated HPO term(s)
- Intellectual disability, mild [HPO term]
ORDO concept(s)
- Obesity due to leptin receptor gene deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Leptin Receptor Deficiency [NCIt concept]
- Leptin receptor deficiency [MedDRA Preferred Term]
- Obesity due to leptin receptor gene deficiency [ORDO Disease]
- Obesity due to leptin receptor gene deficiency [ICD-11 More detail]

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