Kallmann syndrome

GPTKB entity

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