Statements (63)
Predicate | Object |
---|---|
gptkbp:instance_of |
gptkb:Genetics
|
gptkbp:associated_with |
gptkb:Assistive_technology
gptkb:diabetes gptkb:depression anxiety research studies social isolation support groups clinical trials metabolic disorders obesity cardiovascular issues hearing loss low self-esteem genetic counseling body image issues neurological issues osteoporosis short stature color blindness neurodevelopmental disorders sexual dysfunction autoimmune disorders endocrine disorders cleft lip psychosocial issues anosmia scoliosis thyroid disorders gastrointestinal issues agenesis of the corpus callosum facial dysmorphism cryptorchidism infertility treatments renal agenesis hypoplastic testes hyposmia midline defects |
gptkbp:cause |
hypogonadotropic hypogonadism
|
gptkbp:condition |
hypogonadism
olfactory dysfunction |
gptkbp:diagnosis |
genetic testing
clinical evaluation |
gptkbp:discovery_year |
gptkb:1944
|
gptkbp:first_described_by |
Hermann Kallmann
|
gptkbp:gender |
more common in males
|
https://www.w3.org/2000/01/rdf-schema#label |
Kallmann syndrome
|
gptkbp:inherits_from |
autosomal dominant
X-linked autosomal recessive |
gptkbp:prevalence |
1 in 10,000 to 1 in 86,000 males
1 in 50,000 females |
gptkbp:promoter |
FGFR1
PROK2 KAL1 PROKR2 |
gptkbp:symptoms |
infertility
reduced sense of smell delayed puberty |
gptkbp:treatment |
hormone replacement therapy
psychological support |
gptkbp:bfsParent |
gptkb:Hans_Jürgen_Kallmann
|
gptkbp:bfsLayer |
7
|