MCID: KLL001
MIFTS: 60

Kallmann Syndrome malady

Genetic diseases, Rare diseases, Reproductive diseases, Endocrine diseases, Smell/Taste diseases categories

Aliases & Classifications for Kallmann Syndrome

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Sources:
9Disease Ontology, 41NIH Rare Diseases, 21Genetics Home Reference, 11DISEASES, 43Novoseek, 47Orphanet, 60UMLS, 22GTR, 38NCIt, 33MeSH, 55SNOMED-CT, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
See all sources

Kallmann Syndrome, Aliases & Descriptions:

Name: Kallmann Syndrome 9 41 21 11 43 47 60
Hypogonadism with Anosmia 9 21 22
Congenital Hypogonadotropic Hypogonadism with Anosmia 41 47
Anosmic Idiopathic Hypogonadotropic Hypogonadism 41 21
Hypogonadotropic Hypogonadism-Anosmia Syndrome 41 21
Hypogonadotropic Hypogonadism and Anosmia 41 21
Olfacto-Genital Pathological Sequence 41 47
 
Anosmic Hypogonadism 41 21
Kallmann's Syndrome 41 21
Dysplasia Olfactogenitalis of De Morsier 41
Familial Hypogonadism with Anosmia 9
Kallmann Syndrome 1 60
Kallman's Syndrome 9
Kallman Syndrome 9


Classifications:



Characteristics (Orphanet epidemiological data):

47
kallmann syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Childhood; Age of death: normal life expectancy


External Ids:

Disease Ontology9 DOID:3614
NCIt38 C75479
Orphanet47 478
MESH via Orphanet34 D017436
ICD10 via Orphanet26 E23.0
UMLS via Orphanet61 C0162809

Summaries for Kallmann Syndrome

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NIH Rare Diseases:41 Kallmann syndrome (ks) is a condition characterized primarily by hypogonadotropic hypogonadism (hh) and absent or diminished sense of smell (anosmia or hyposmia, respectively). hh is present from birth (congenital) and is due to deficiency of gonadotropin-releasing hormone (gnrh). ks is often diagnosed at puberty due to lack of sexual development, but may be suspected in male infants with cryptorchidism or an unusually small penis. untreated adult males may have decreased bone density and muscle mass, decreased testicular volume, erectile dysfunction, diminished libido, and infertility. untreated adult females almost always have absent menstruation with normal, little, or no breast development. in rare cases, features may include failure of kidney development (renal agenesis), hearing impairment, cleft lip or palate, and/or dental abnormalities. most cases of ks are sporadic but some types are familial. the inheritance pattern differs depending on the responsible gene. treatment includes hormone replacement therapy for sexual development. fertility can be achieved in most cases. last updated: 2/25/2015

MalaCards based summary: Kallmann Syndrome, also known as hypogonadism with anosmia, is related to hypogonadism and charge syndrome, and has symptoms including decreased fertility, anterior hypopituitarism and abnormality of the sense of smell. An important gene associated with Kallmann Syndrome is KAL1 (Kallmann syndrome 1 sequence), and among its related pathways are Insulin receptor signalling cascade and Signaling by FGFR3 mutants. The compounds gnrh and heparan sulfate have been mentioned in the context of this disorder. Affiliated tissues include bone, breast and kidney, and related mouse phenotypes are hearing/vestibular/ear and digestive/alimentary.

Genetics Home Reference:21 Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

Wikipedia:63 Kallmann syndrome is a genetic condition where the primary symptom is a failure to start puberty or a... more...

Related Diseases for Kallmann Syndrome

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Diseases in the Kallmann Syndrome family:

Kallmann Syndrome 3 Kallmann Syndrome 4
Kallmann Syndrome 5 Kallmann Syndrome 6

Diseases related to Kallmann Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 75)
idRelated DiseaseScoreTop Affiliating Genes
1hypogonadism31.0CHD7, KAL1, FGFR1, FGF8, TACR3, KISS1R
2charge syndrome30.9CHD7
3hypogonadotropic hypogonadism 8 with or without anosmia30.8KISS1R
4septooptic dysplasia30.8HESX1
5hypogonadotropic hypogonadism 17 with or without anosmia30.6SPRY4
6holoprosencephaly30.5HESX1, FGF8
7schizophrenia30.5KAL1, TACR3, SOX10
8hypogonadotropism10.7
9hypogonadotropic hypogonadism 1 with or without anosmia10.5
10neuronitis10.5
11pfeiffer syndrome10.4FGF8, FGFR1
12hypogonadotropic hypogonadism 2 with or without anosmia10.4
13kallmann syndrome 310.4
14kallmann syndrome 410.4
15kallmann syndrome 510.4
16kallmann syndrome 610.4
17craniosynostosis10.4FGF8, FGFR1
18klinefelter's syndrome10.3KISS1R, TACR3
19pilocytic astrocytoma10.3SOX10
20sensorineural hearing loss10.3FGFR1, SOX10
21chondrodysplasia punctata10.3
22chondrodysplasia10.3
23kallmann syndrome/ hypogonadotropic hypogonadism multi-gene panels10.3
24brachytelephalangy - dysmorphism - kallmann syndrome10.3
25kallmann syndrome - heart disease10.3
26cryptorchidism10.2KAL1, FGFR1
27ocular albinism10.2
28albinism10.2
29anosmia, isolated congenital10.1
30neural tube defects10.0
31macular degeneration, age-related, 110.0
32hypogonadotropic hypogonadism 13 with or without anosmia10.0
33hypogonadotropic hypogonadism 15 with or without anosmia10.0
34hypogonadotropic hypogonadism 4 with or without anosmia10.0
35hypogonadotropic hypogonadism 18 with or without anosmia10.0
36hypogonadotropic hypogonadism 11 with or without anosmia10.0
37lung cancer susceptibility 310.0
38hypogonadotropic hypogonadism 16 with or without anosmia10.0
39hypogonadotropic hypogonadism 20 with or without anosmia10.0
40hypogonadotropic hypogonadism 12 with or without anosmia10.0
41hypogonadotropic hypogonadism 5 with or without anosmia10.0
42hypogonadotropic hypogonadism 9 with or without anosmia10.0
43hypogonadotropic hypogonadism 6 with or without anosmia10.0
44hypogonadotropic hypogonadism 14 with or without anosmia10.0
45hypogonadotropic hypogonadism 10 with or without anosmia10.0
46hypogonadotropic hypogonadism 19 with or without anosmia10.0
47moebius syndrome10.0
48hypogonadotropic hypogonadism 3 with or without anosmia10.0
49hypophosphatemic rickets10.0
50androgen insensitivity10.0

Graphical network of the top 20 diseases related to Kallmann Syndrome:



Diseases related to kallmann syndrome

Symptoms for Kallmann Syndrome

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Symptoms:

 47 (show all 44)
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • micropenis/small penis/agenesis
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • sterility/hypofertility
  • impotence/painful erection/priapism/erection troubles
  • hypothalamic-hypophyseal axis functional anomalies/hypopituitarism
  • late puberty/hypogonadism/hypogenitalism
  • autosomal dominant inheritance
  • autosomal recessive inheritance
  • x-linked recessive inheritance
  • breast tissue/mammary gland absence/aplasia
  • abnormal cry/voice/phonation disorder/nasal speech
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • primary amenorrhea
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • visual loss/blindness/amblyopia
  • achromatopsia/dyschromatopsia/daltonism/impaired colour vision
  • nystagmus
  • ptosis
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • anodontia/oligodontia/hypodontia
  • sensorineural deafness/hearing loss
  • gynecomastia/breast/mammary gland enlargement/hyperplasia
  • pes talus
  • pes cavus
  • ichthyosis/ichthyosiform dermatitis
  • congenital cardiac anomaly/malformation/cardiopathy
  • agenesis/hypoplasia/aplasia of kidneys
  • uterine/uterus/fallopian tubes anomalies
  • metrorrhagia/menorrhagia/hemorrhagic cycles/hyper/poly/spanio/dysmenorrhea
  • dyspareunia/coital pain/vaginal dryness
  • abnormal gait
  • ataxia/incoordination/trouble of the equilibrium
  • movement disorder
  • tremor
  • hypotonia
  • hemiplegia/diplegia/hemiparesia/limb palsy
  • seizures/epilepsy/absences/spasms/status epilepticus
  • elocution disorders/dysarthria/dysphonia
  • muscle weakness/flaccidity
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • mutiple fractures/bone fragility
  • delayed bone age
  • generalized obesity

HPO human phenotypes related to Kallmann Syndrome:

(show all 35)
id Description Frequency HPO Source Accession
1 decreased fertility hallmark (90%) HP:0000144
2 anterior hypopituitarism hallmark (90%) HP:0000830
3 abnormality of the sense of smell hallmark (90%) HP:0004408
4 hypoplasia of penis hallmark (90%) HP:0008736
5 erectile abnormalities hallmark (90%) HP:0100639
6 cryptorchidism typical (50%) HP:0000028
7 primary amenorrhea typical (50%) HP:0000786
8 abnormality of the voice typical (50%) HP:0001608
9 reduced bone mineral density typical (50%) HP:0004349
10 breast aplasia typical (50%) HP:0100783
11 cleft palate occasional (7.5%) HP:0000175
12 sensorineural hearing impairment occasional (7.5%) HP:0000407
13 visual impairment occasional (7.5%) HP:0000505
14 ptosis occasional (7.5%) HP:0000508
15 abnormality of color vision occasional (7.5%) HP:0000551
16 nystagmus occasional (7.5%) HP:0000639
17 gynecomastia occasional (7.5%) HP:0000771
18 seizures occasional (7.5%) HP:0001250
19 muscular hypotonia occasional (7.5%) HP:0001252
20 gait disturbance occasional (7.5%) HP:0001288
21 muscle weakness occasional (7.5%) HP:0001324
22 tremor occasional (7.5%) HP:0001337
23 obesity occasional (7.5%) HP:0001513
24 pes cavus occasional (7.5%) HP:0001761
25 rocker bottom foot occasional (7.5%) HP:0001838
26 neurological speech impairment occasional (7.5%) HP:0002167
27 incoordination occasional (7.5%) HP:0002311
28 malformation of the heart and great vessels occasional (7.5%) HP:0002564
29 skeletal dysplasia occasional (7.5%) HP:0002652
30 delayed skeletal maturation occasional (7.5%) HP:0002750
31 recurrent fractures occasional (7.5%) HP:0002757
32 hemiplegia/hemiparesis occasional (7.5%) HP:0004374
33 ichthyosis occasional (7.5%) HP:0008064
34 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
35 reduced number of teeth occasional (7.5%) HP:0009804

Drugs & Therapeutics for Kallmann Syndrome

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Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome

Search NIH Clinical Center for Kallmann Syndrome

Genetic Tests for Kallmann Syndrome

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Genetic tests related to Kallmann Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadism with Anosmia22

Anatomical Context for Kallmann Syndrome

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MalaCards organs/tissues related to Kallmann Syndrome:

31
Bone, Breast, Kidney, Hypothalamus, Testes, Olfactory bulb, Heart, Uterus, Brain, Pituitary, Thyroid, Fetal brain

Animal Models for Kallmann Syndrome or affiliated genes

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Publications for Kallmann Syndrome

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Articles related to Kallmann Syndrome:

(show top 50)    (show all 225)
idTitleAuthorsYear
1
Kallmann syndrome patient with gender dysphoria, multiple sclerosis, and thrombophilia. (25739677)
2015
2
Late-diagnosed Kallmann syndrome. (25475520)
2015
3
Pituitary stalk interruption and olfactory bulbs aplasia/hypoplasia in a man with Kallmann syndrome and reversible gonadotrope and somatotrope deficiencies. (25381604)
2014
4
A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome. (25328414)
2014
5
Mutations in FEZF1 cause Kallmann syndrome. (25192046)
2014
6
Olfactory dysfunction in children with Kallmann syndrome: relation of smell tests with brain magnetic resonance imaging. (25553765)
2014
7
Re: Identification of HESX1 mutations in Kallmann syndrome. (24703149)
2014
8
Kallmann syndrome and paranoid schizophrenia: a rare combination. (23329708)
2013
9
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. (22416012)
2012
10
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. (21300340)
2011
11
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (21856375)
2011
12
Copy number variation associated with Kallmann syndrome: new genetics insights from genome-wide studies. (21076436)
2011
13
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. (20536592)
2010
14
Kallmann Syndrome and hypogonadotropic Hypogonadism.Concluding remarks. (20389094)
2010
15
A case of Kallmann syndrome carrying a missense mutation in alternatively spliced exon 8A encoding the immunoglobulin-like domain IIIb of fibroblast growth factor receptor 1. (20139426)
2010
16
FGFR1 mutations in Kallmann syndrome. (20389085)
2010
17
Kallmann syndrome and mirror movements: White matter quantitative evaluation with magnetic resonance imaging. (20211475)
2010
18
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. (20117945)
2010
19
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome. (18034870)
2008
20
Kallmann syndrome: a historical [corrected] clinical and molecular review]. (18345392)
2008
21
Whole-brain voxel-based morphometry in Kallmann syndrome associated with mirror movements. (18768731)
2008
22
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. (17603054)
2007
23
Correction of congenital nasal hypoplasia associated with Kallmann syndrome using self-inflating injectable tissue expander pellets. (17051117)
2006
24
Kallmann syndrome in a 47,XXX patient. (16222664)
2005
25
Diagnosis and differential diagnosis of Kallmann syndrome]. (16281511)
2005
26
Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients. (15001591)
2004
27
Embryonic expression pattern of the Drosophila Kallmann syndrome gene kal-1. (15533820)
2004
28
Clinical and inheritance profiles of Kallmann syndrome in Jordan. (15500697)
2004
29
Kallmann syndrome: fibroblast growth factor signaling insufficiency? (15365636)
2004
30
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (12627230)
2003
31
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. (12050219)
2002
32
A case of Kallmann syndrome: diagnostic usefulness of cranial magnetic resonance imaging]. (10965462)
2000
33
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. (10076881)
1999
34
Kallmann syndrome and the link between olfactory and reproductive development. (10486312)
1999
35
Anosmin-1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: implications for the developmental anomalies of X chromosome-linked Kallmann syndrome. (10340754)
1999
36
Renal abnormalities in patients with Kallmann syndrome. (10210557)
1999
37
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
38
Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene. (9554756)
1998
39
The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. (8842728)
1996
40
Case report: olfactory function in a fertile eunuch with Kallmann syndrome. (8615388)
1996
41
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. (7677154)
1995
42
Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome. (7590336)
1995
43
Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome. (7999985)
1994
44
Kallmann syndrome: MR evaluation of olfactory system. (8352154)
1993
45
Kallmann syndrome associated with complex chromosome rearrangement. (8456820)
1993
46
Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. (1303284)
1992
47
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
48
Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. (2687610)
1989
49
Kallmann syndrome: a case of twin pregnancy and review of the literature. (2500625)
1989
50
HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome). (6772660)
1980

Variations for Kallmann Syndrome

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Clinvar genetic disease variations for Kallmann Syndrome:

6 (show all 71)
id Gene Variation Type Significance SNP ID Assembly Location
1KAL1KAL1, 3,300-BP DELdeletionPathogenic
2KAL1NM_000216.2(KAL1): c.711G> A (p.Trp237Ter)single nucleotide variantPathogenicrs137852512GRCh37Chr X, 8555850: 8555850
3KAL1NM_000216.2(KAL1): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs137852513GRCh37Chr X, 8553395: 8553395
4KAL1NM_000216.2(KAL1): c.774G> A (p.Trp258Ter)single nucleotide variantPathogenicrs137852514GRCh37Chr X, 8553390: 8553390
5KAL1KAL1, 1-BP DEL, PRO277FSdeletionPathogenic
6KAL1KAL1, EX3-5DELdeletionPathogenic
7KAL1NM_000216.2(KAL1): c.1540G> A (p.Glu514Lys)single nucleotide variantPathogenicrs137852515GRCh37Chr X, 8504893: 8504893
8KAL1KAL1, EX5DELdeletionPathogenic
9KAL1KAL1, 11-BP DUP, NT158duplicationPathogenic
10KAL1NM_000216.2(KAL1): c.784C> T (p.Arg262Ter)single nucleotide variantPathogenicrs137852516GRCh37Chr X, 8553380: 8553380
11KAL1KAL1, EX3-13 DELdeletionPathogenic
12KAL1NM_000216.2(KAL1): c.1187C> T (p.Ser396Leu)single nucleotide variantPathogenicrs137852517GRCh37Chr X, 8536293: 8536293
13KAL1KAL1, EX3-6 DELdeletionPathogenic
14KAL1NM_000216.2(KAL1): c.1062+1G> Tsingle nucleotide variantPathogenicrs387906427GRCh37Chr X, 8538539: 8538539
15FGFR1NM_023110.2(FGFR1): c.443G> A (p.Arg148His)single nucleotide variantPathogenicrs515726222GRCh37Chr 8, 38285869: 38285869
16FGFR1NM_023110.2(FGFR1): c.790A> C (p.Asn264His)single nucleotide variantPathogenicrs515726223GRCh37Chr 8, 38282173: 38282173
17FGFR1NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp)single nucleotide variantPathogenicrs515726224GRCh37Chr 8, 38275480: 38275480
18FGFR1NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile)single nucleotide variantPathogenicrs515726225GRCh37Chr 8, 38271772: 38271772
19TACR3NM_001059.2(TACR3): c.278G> A (p.Gly93Asp)single nucleotide variantPathogenicrs121918124GRCh37Chr 4, 104640555: 104640555
20TACR3NM_001059.2(TACR3): c.1057C> T (p.Pro353Ser)single nucleotide variantPathogenicrs121918125GRCh37Chr 4, 104512672: 104512672
21FGF8NM_033163.3(FGF8): c.451G> A (p.Gly151Ser)single nucleotide variantLikely pathogenicGRCh37Chr 10, 103530370: 103530370
22FGF8NM_033163.3(FGF8): c.237C> G (p.Leu79=)single nucleotide variantLikely pathogenicGRCh37Chr 10, 103534589: 103534589
23KAL1NM_000216.2(KAL1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh37Chr X, 8700077: 8700077
24FGFR1NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter)single nucleotide variantrisk factorrs121909628GRCh37Chr 8, 38272410: 38272410
25FGFR1NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser)single nucleotide variantrisk factorrs121909635GRCh37Chr 8, 38283676: 38283676
26FGFR1NM_023110.2(FGFR1): c.2165C> A (p.Pro722His)single nucleotide variantrisk factorrs267606805GRCh37Chr 8, 38271691: 38271691
27FGFR1NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter)single nucleotide variantPathogenicrs121909636GRCh37Chr 8, 38272087: 38272087
28FGFR1NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu)single nucleotide variantrisk factorrs121909637GRCh37Chr 8, 38275767: 38275767
29FGFR1NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser)single nucleotide variantPathogenicrs121909640GRCh37Chr 8, 38287416: 38287416
30FGFR1NM_023110.2(FGFR1): c.2292G> T (p.Gln764His)single nucleotide variantPathogenicrs121909643GRCh37Chr 8, 38271436: 38271436
31FGFR1NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr)single nucleotide variantrisk factorrs121909644GRCh37Chr 8, 38271313: 38271313
32FGFR1NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln)single nucleotide variantrisk factorrs121909645GRCh37Chr 8, 38282214: 38282214
33CHD7NM_017780.3(CHD7): c.2442+5G> Csingle nucleotide variantPathogenicrs387906271GRCh37Chr 8, 61714157: 61714157
34CHD7CHD7, IVS8, G-A, +5single nucleotide variantPathogenic
35CHD7NM_017780.3(CHD7): c.164A> G (p.His55Arg)single nucleotide variantPathogenicrs121434345GRCh37Chr 8, 61654155: 61654155
36NSMFNM_001130969.1(NSMF): c.1438A> G (p.Thr480Ala)single nucleotide variantrisk factorrs121918340GRCh37Chr 9, 140344108: 140344108
37NSMFNELF, 8-BP DEL, IVS9, -14deletionrisk factor
38PROKR2NM_144773.2(PROKR2): c.518T> G (p.Leu173Arg)single nucleotide variantPathogenicrs74315416GRCh37Chr 20, 5283323: 5283323
39PROKR2NM_144773.2(PROKR2): c.629A> G (p.Gln210Arg)single nucleotide variantPathogenicrs74315417GRCh37Chr 20, 5283212: 5283212
40PROKR2NM_144773.2(PROKR2): c.254G> A (p.Arg85His)single nucleotide variantPathogenicrs74315418GRCh37Chr 20, 5294762: 5294762
41PROKR2PROKR2, 1-BP DEL, 58CdeletionPathogenic
42PROKR2NM_144773.2(PROKR2): c.969G> A (p.Met323Ile)single nucleotide variantPathogenicrs74315419GRCh37Chr 20, 5282872: 5282872
43PROK2NM_001126128.1(PROK2): c.94G> C (p.Gly32Arg)single nucleotide variantPathogenicrs104893767GRCh37Chr 3, 71834110: 71834110
44PROK2PROK2, 1-BP INS, 234TinsertionPathogenic
45PROK2PROK2, 1-BP DEL, 163AdeletionPathogenic
46PROK2NM_001126128.1(PROK2): c.217C> T (p.Arg73Cys)single nucleotide variantPathogenicrs121434272GRCh37Chr 3, 71830623: 71830623
47WDR11WDR11, PHE1150LEUsingle nucleotide variantPathogenic
48WDR11NM_018117.11(WDR11): c.1303G> A (p.Ala435Thr)single nucleotide variantPathogenicrs318240760GRCh37Chr 10, 122630690: 122630690
49SEMA3ASEMA3A, 213-KB DELdeletionrisk factor
50SEMA3ANM_006080.2(SEMA3A): c.1303G> A (p.Val435Ile)single nucleotide variantrisk factorrs147436181GRCh37Chr 7, 83634712: 83634712
51SEMA3ASEMA3A, 13-BP DEL, NT1613deletionrisk factor
52DUSP6NM_001946.3(DUSP6): c.566A> G (p.Asn189Ser)single nucleotide variantPathogenicGRCh37Chr 12, 89744637: 89744637
53DUSP6NM_001946.3(DUSP6): c.545C> T (p.Ser182Phe)single nucleotide variantrisk factorGRCh37Chr 12, 89744658: 89744658
54DUSP6NM_001946.3(DUSP6): c.1037C> T (p.Thr346Met)single nucleotide variantrisk factorGRCh37Chr 12, 89743140: 89743140
55DUSP6NM_001946.3(DUSP6): c.229T> A (p.Phe77Ile)single nucleotide variantPathogenicGRCh37Chr 12, 89745588: 89745588
56FGF17NM_003867.2(FGF17): c.323T> C (p.Ile108Thr)single nucleotide variantrisk factorrs398123024GRCh37Chr 8, 21904110: 21904110
57FGF17NM_003867.2(FGF17): c.560A> G (p.Asn187Ser)single nucleotide variantPathogenicrs398123026GRCh37Chr 8, 21905669: 21905669
58KISS1RNM_032551.4(KISS1R): c.581C> A (p.Ala194Asp)single nucleotide variantrisk factorrs397514699GRCh37Chr 19, 919949: 919949
59NM_013281.3(FLRT3): c.1016A> G (p.Lys339Arg)single nucleotide variantPathogenicrs398124654GRCh37Chr 20, 14307137: 14307137
60SPRY4NM_030964.3(SPRY4): c.530A> G (p.Lys177Arg)single nucleotide variantPathogenicrs78310959GRCh37Chr 5, 141694213: 141694213
61SPRY4SPRY4, VAL304ILEsingle nucleotide variantPathogenic
62SPRY4NM_030964.3(SPRY4): c.722C> A (p.Ser241Tyr)single nucleotide variantrisk factorrs139512218GRCh37Chr 5, 141694021: 141694021
63SPRY4NM_001127496.1(SPRY4): c.46G> A (p.Val16Ile)single nucleotide variantPathogenicGRCh37Chr 5, 141694628: 141694628
64TACR3NM_001059.2(TACR3): c.824G> A (p.Trp275Ter)single nucleotide variantPathogenicrs144292455GRCh37Chr 4, 104577415: 104577415
65TACR3NM_001059.2(TACR3): c.766T> C (p.Tyr256His)single nucleotide variantPathogenicrs397515483GRCh37Chr 4, 104577473: 104577473
66KAL1NM_000216.2(KAL1): c.1449+2delTdeletionPathogenicrs397518425GRCh37Chr X, 8507703: 8507703
67FGF8NM_033163.3(FGF8): c.40C> A (p.His14Asn)single nucleotide variantPathogenicrs137852659GRCh37Chr 10, 103535526: 103535526
68FGF8NM_033163.3(FGF8): c.77C> T (p.Pro26Leu)single nucleotide variantPathogenicrs137852660GRCh37Chr 10, 103534966: 103534966
69FGF8NM_033163.3(FGF8): c.118T> C (p.Phe40Leu)single nucleotide variantPathogenicrs137852661GRCh37Chr 10, 103534925: 103534925
70FGF8NM_033163.3(FGF8): c.298A> G (p.Lys100Glu)single nucleotide variantPathogenicrs137852662GRCh37Chr 10, 103534528: 103534528
71FGF8NM_033163.3(FGF8): c.379C> G (p.Arg127Gly)single nucleotide variantPathogenicrs137852663GRCh37Chr 10, 103531285: 103531285

Expression for genes affiliated with Kallmann Syndrome

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Search GEO for disease gene expression data for Kallmann Syndrome.

Pathways for genes affiliated with Kallmann Syndrome

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Pathways related to Kallmann Syndrome according to GeneCards Suite gene sharing:

(show all 28)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
10.0FGF8, FGF17, FGFR1
2
Show member pathways
10.0FGF8, FGFR1, FGF17
3
Show member pathways
10.0FGF8, FGF17, FGFR1
4
Show member pathways
10.0FGFR1, FGF17, FGF8
5
Show member pathways
Signaling Pathways in Glioblastoma36
10.0FGF17, FGFR1, FGF8
6
Show member pathways
10.0FGFR1, FGF8, FGF17
710.0FGFR1, FGF17, FGF8
8
Show member pathways
10.0FGFR1, FGF17, FGF8
9
Show member pathways
10.0FGF17, FGFR1, FGF8
10
Show member pathways
10.0FGF17, FGF8, FGFR1
1110.0SOX10, FGFR1, FGF8
12
Show member pathways
MAPK signaling pathway36
9.9FGF8, DUSP6, FGF17, FGFR1
13
Show member pathways
9.9PROK2, PROKR2, KISS1R, TACR3
14
Show member pathways
9.8FGF8, FGF17, FGFR1, SEMA3A
15
Show member pathways
9.8FGFR1, FGF17, FGF8, SEMA3A
16
Show member pathways
9.8SEMA3A, FGF8, FGF17, FGFR1
17
Show member pathways
9.8SEMA3A, FGF17, FGF8, FGFR1
18
Show member pathways
9.8FGFR1, FGF17, FGF8, SEMA3A
19
Show member pathways
9.8FGF8, FGFR1, SEMA3A, FGF17
20
Show member pathways
9.8FGFR1, FGF8, SEMA3A, FGF17
21
Show member pathways
9.8FGFR1, FGF17, FGF8, SEMA3A
22
Show member pathways
9.8FGF17, FGF8, FGFR1, SEMA3A
23
Show member pathways
9.7FGFR1, FGF17, FGF8, DUSP6, IL17RD
24
Show member pathways
9.6SEMA3A, FGFR1, FGF17, FGF8, DUSP6
25
Show member pathways
9.6SOX10, FGFR1, FGF17, SEMA3A, FGF8
269.6FGF8, IL17RD, HS6ST1, FGFR1, FGF17
27
Show member pathways
9.0DUSP6, FGFR1, FGF17, FGF8, TACR3, PROK2

Compounds for genes affiliated with Kallmann Syndrome

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Sources:
43Novoseek, 24HMDB
See all sources

Compounds related to Kallmann Syndrome according to GeneCards Suite gene sharing:

idCompoundScoreTop Affiliating Genes
1gnrh439.5FGFR1, KISS1R, NSMF, HESX1, KAL1
2heparan sulfate43 2410.5KAL1, HS6ST1, FGF8, FGFR1
3tyrosine439.4FGFR1, FGF8, KISS1R, IL17RD, DUSP6, SEMA3A

GO Terms for genes affiliated with Kallmann Syndrome

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Cellular components related to Kallmann Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056348.8FGFR1, TACR3, WDR11, IL17RD, NSMF, CHD7

Biological processes related to Kallmann Syndrome according to GeneCards Suite gene sharing:

(show all 21)
idNameGO IDScoreTop Affiliating Genes
1branching involved in salivary gland morphogenesisGO:006044510.5FGFR1, FGF8
2organ inductionGO:000175910.5FGF8, FGFR1
3nose developmentGO:004358410.5CHD7, HESX1
4otic vesicle formationGO:003091610.5HESX1, FGF8
5forebrain morphogenesisGO:004885310.4FGF8, HESX1
6positive regulation of neuron migrationGO:0200122410.4NSMF, SEMA3A
7embryonic hindlimb morphogenesisGO:003511610.3CHD7, FGF8
8phosphatidylinositol-mediated signalingGO:004801510.3FGF8, FGF17, FGFR1
9insulin receptor signaling pathwayGO:000828610.3FGF8, FGFR1, FGF17
10olfactory bulb developmentGO:002177210.2FEZF1, SEMA3A
11fibroblast growth factor receptor signaling pathwayGO:000854310.2FGF17, FGFR1, FGF8
12Fc-epsilon receptor signaling pathwayGO:003809510.2FGFR1, FGF17, FGF8
13circadian rhythmGO:000762310.2PROKR2, PROK2
14epidermal growth factor receptor signaling pathwayGO:000717310.2FGF17, FGFR1, FGF8
15neurotrophin TRK receptor signaling pathwayGO:004801110.2FGF17, FGF8, DUSP6, FGFR1
16neuron migrationGO:000176410.1FGFR1, FEZF1, SEMA3A
17angiogenesisGO:000152510.0HS6ST1, FGFR1, PROK2
18cell maturationGO:004846910.0SOX10, FGFR1
19in utero embryonic developmentGO:000170110.0CHD7, FGFR1, SOX10
20axon guidanceGO:00074119.9FGFR1, FLRT3, FEZF1, SEMA3A, KAL1
21innate immune responseGO:00450879.6DUSP6, FGF17, FGFR1, FGF8

Molecular functions related to Kallmann Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1type 2 fibroblast growth factor receptor bindingGO:000511110.1FGF17, FGF8
2RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:000097810.0SOX10, FEZF1
3type 1 fibroblast growth factor receptor bindingGO:00051059.9FGF17, FGF8

Products for genes affiliated with Kallmann Syndrome

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  • Antibodies
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Sources for Kallmann Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet