Neurology · Endocrinology / Neurology overlap
Kallmann syndrome with neurological involvement
also: Kallmann syndrome
Hypogonadotropic hypogonadism with anosmia.
- Specialty
- Neurology
- Subspecialty
- Endocrinology / Neurology overlap
- Sex & age distribution
- Male: affected, more common; Female: affected; Children: yes, absent puberty noted in adolescents
- Gene(s) involved
- ANOS1, CCDC141, CHD7, FGF17, FGF8, FGFR1, FLRT3, HS6ST1, IL17RD, PROK2, PROKR2, SEMA3A, SEMA3E, SOX10, WDR11
- Alternative names & eponyms
- Kallmann syndrome
- Note
- Primarily endocrine; verify
Etiology & mechanism
Failed GnRH neuron migration.
Gene(s) involved (15)
Symptoms & signs (6)
In plain terms, someone with Kallmann syndrome with neurological involvement may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Kallmann syndrome
anosmia, cleft palate, hypogonadism
2 shared
Bardet–Biedl syndrome
anosmia, hypogonadism
1 shared
Aarskog–Scott syndrome
delayed puberty
1 shared
Apert syndrome
cleft palate
1 shared
Autoimmune polyglandular syndrome type 1
hypogonadism
1 shared
Autoimmune polyglandular syndrome type 2
hypogonadism
1 shared
Bamforth–Lazarus syndrome
cleft palate
1 shared
Börjeson–Forssman–Lehmann syndrome
hypogonadism
1 shared
Borjeson–Forssman–Lehmann syndrome
hypogonadism
1 shared
Congenital rubella syndrome
deafness
Shares genes with
11 shared
Kallmann syndrome
ANOS1, CHD7, FGF8, FGFR1, HS6ST1, IL17RD, PROK2, PROKR2, SEMA3A, SOX10, WDR11
2 shared
CHARGE syndrome
CHD7, SEMA3E
1 shared
Brugada syndrome
SEMA3A
1 shared
Chronic intestinal pseudo-obstruction syndrome
SOX10
1 shared
Pfeiffer syndrome
FGFR1
1 shared
Pituitary stalk interruption syndrome
PROKR2
1 shared
Waardenburg syndrome
SOX10
Loading…
Loading…