Kallmann syndrome
cv_term_accession
KW-0956
canonical
uniprot_keyword
KW-0956
canonical
name
Kallmann syndrome
uniprot
synonym
Dysplasia olfactogenitalis of De Morsier
uniprot
synonym
HHA
uniprot
synonym
Hypogonadotropic hypogonadism and anosmia
uniprot
synonym
KMS
uniprot
synonym
Kallmann de Morsier syndrome
uniprot
synonym
Kallmann's syndrome
uniprot
definition
Protein which, if defective, causes Kallmann syndrome, a disorder characterized by the association of hypogonadotropic hypogonadism with anosmia or hyposmia. Kallmann syndrome is caused by impaired embryonic development of the olfactory system and the GnRH-synthesizing neurons. The main clinical features consist of the association of micropenis and cryptorchidism in young boys, the absence of spontaneous puberty, and a partial or total loss of the sense of smell (anosmia). In some patients other developmental anomalies can be present such as renal agenesis, cleft lip/palate, selective tooth agenesis and bimanual synkinesis.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords