Leptin deficiency or dysfunction

Preferred Label : Leptin deficiency or dysfunction;

Symbol : LEPD;

CISMeF acronym : LEPD;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Obesity, morbid;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the leptin gene (LEP, 164160.0001);

Prefixed ID : #614962;

Details

Origin ID

614962;

UMLS CUI

C3554224;

Automatic exact mappings (from CISMeF team)
- LEP 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]
- morbid obesity [DO Concept]
- morbid obesity [Artificial nutrition thesaurus concept]
- obesity, morbid [MeSH concept]
- obesity, morbid [MeSH Descriptor]
Currated CISMeF NLP mapping
- Obesity due to congenital leptin deficiency [ICD-11 More detail]
- Obesity due to congenital leptin deficiency [ORDO Disease]
- congenital leptin deficiency [DO Concept]
- leptin deficiency [Disease (Nov.)]
DO Cross reference
- congenital leptin deficiency [DO Concept]
Genes related to phenotype
- Leptin [OMIM gene]
HPO term(s)
- Abnormal eating behavior [HPO term]
- Autosomal recessive inheritance [HPO term]
- Decreased serum leptin [HPO term]
- Decreased testicular size [HPO term]
- Gynecomastia [HPO term]
- Hypogonadism [HPO term]
- Micropenis [HPO term]
- Obesity [HPO term]
- Polyphagia [HPO term]
- Primary amenorrhea [HPO term]
- Recurrent ear infections [HPO term]
- Recurrent pneumonia [HPO term]
- Recurrent upper respiratory tract infections [HPO term]
ORDO concept(s)
- Obesity due to congenital leptin deficiency [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Congenital leptin deficiency [MedDRA Preferred Term]
- Congenital leptin deficiency (disorder) [SNOMED CT concept]
- Leptin Deficiency [NCIt concept]
- Obesity due to congenital leptin deficiency [ORDO Disease]
- Obesity due to congenital leptin deficiency [ICD-11 More detail]
- congenital leptin deficiency [DO Concept]
- leptin deficiency [Disease (Nov.)]
Validated automatic mappings to NTBT
- Leptin Deficiency [NCIt concept]

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