LEPTIN RECEPTOR DEFICIENCY

Question 1

What is  LEPTIN RECEPTOR DEFICIENCY?

Accepted Answer

rare
autosomal recessive
normal birth weight but rapid weight gain in the first few months of life without mental retardation

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Adipositas durch Leptin-Rezeptor-Genmutationen

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 614963

Question 4

Which enzymes are involved?

Accepted Answer

Leptin receptor

Disease	LEPTIN RECEPTOR DEFICIENCY
Synonym	OBESITY, MORBID, NONSYNDROMIC 2
OMIM	614963 OMIM = Online Mendelian Inheritance of Men
Orphanet	179494
Protein (UniProt)	Leptin receptor
Gene locus	11p31.3
ICD	E66.8
Summary	rare autosomal recessive normal birth weight but rapid weight gain in the first few months of life without mental retardation
Laboratory findings	Estradiol normal/dec (serum) Follicle stimulating hormone (FSH) normal/dec (serum) Insulin inc (serum) Leptin normal/inc (serum) Luteinizing hormone (LH) normal/dec (serum) Thyroid-stimulating hormone (TSH) inc (serum) Thyroxine (T4) dec (serum)
Symptoms	hyperphagia hypogonadism obesity onset, childhood