MCID: KLL001
MIFTS: 58

Kallmann Syndrome malady

Smell/Taste, Genetic categories

Summaries for Kallmann Syndrome

Sources:
43NIH Rare Diseases, 21Genetics Home Reference, 64Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 Kallmann syndrome is an inherited disorder characterized by delayed puberty and an impaired sense of smell. other symptoms can include color blindness, cleft lip or palate, hearing loss, failure of the kidneys to develop, abnormal development of secondary sex characteristics (such as breast development or pubic hair), and infertility. this disorder is a form of hypogonadotropic hypogonadism. affected males are usually born with a small penis and underdeveloped testes. affected females usually do not begin menstruating at puberty and have little or no breast development. in some people, puberty is incomplete or delayed.four types of kallmann syndrome have been identified, which are designated as types 1 through 4. the most common type is kallmann syndrome 1, which is inherited in an x-linked recessive fashion. autosomal recessive and autosomal dominant inheritance has been noted in the other types. mutations in the kal1 gene cause kallmann syndrome 1 and kallmann syndrome 2 results from mutations in the fgfr1 gene. mutations in prokr2 cause kallmann syndrome 3 and mutations in the prok2 gene cause kallmann syndrome 4. other genes associated with this syndrome include chd7 and fgf8. last updated: 5/12/2011

MalaCards: Kallmann Syndrome, also known as hypogonadism with anosmia, is related to kallmann syndrome 2 and renal agenesis. An important gene associated with Kallmann Syndrome is KAL1 (Kallmann syndrome 1 sequence), and among its related pathways are Glycoprotein hormones and Neuropeptides signaling through G-protein alpha-i & G-protein alpha-q. The compounds forskolin and degarelix have been mentioned in the context of this disorder. Affiliated tissues include brain, heart 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:64 Kallmann syndrome is a genetic condition where the primary symptom is a failure to start puberty or a... more...

Description from OMIM:47 244200,612702,147950,612370,610628

Aliases & Classifications for Kallmann Syndrome

Sources:
8Disease Ontology, 43NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 45Novoseek, 61UMLS, 22GTR, 35MeSH, 47OMIM, 57SNOMED-CT, 40NCIt
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic
Anatomical: Smell/Taste


Aliases & Descriptions:

kallmann syndrome 8 43 21 10 45 61
hypogonadism with anosmia 8 22 21
anosmic idiopathic hypogonadotropic hypogonadism 43 21
hypogonadotropic hypogonadism-anosmia syndrome 43 21
hypogonadotropic hypogonadism and anosmia 43 21
anosmic hypogonadism 43 21
dysplasia olfactogenitalis of de morsier 43
familial hypogonadism with anosmia 8
kallmann's syndrome 21
kallman's syndrome 8
kallman syndrome 8


External Ids:

Disease Ontology8 DOID:3614
NCIt40 C75479

Related Diseases for Kallmann Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Kallmann Syndrome family:

kallmann syndrome 1 kallmann syndrome 2
kallmann syndrome 3 kallmann syndrome 4
kallmann syndrome 5 kallmann syndrome 6

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

(show top 50)    (show all 115)
idRelated DiseaseScoreTop Affiliating Genes
1kallmann syndrome 230.4FGFR1
2renal agenesis30.3KAL1
3charge syndrome30.2CHD7
4cleft palate30.0FGFR1
5hypogonadotropism30.0GNRH1, KISS1R
6septo-optic dysplasia29.9LHX3, HESX1, PROP1
7empty sella syndrome29.9PROP1, LHX3
8holoprosencephaly29.9LHX3, HESX1, PROP1, FGF8
9n syndrome10.7
10fg syndrome10.5
11char syndrome10.5
12kallmann syndrome 110.5
13kallmann syndrome 310.3
14kallmann syndrome 410.3
15kallmann syndrome 510.3
16kallmann syndrome 610.3
17chondrodysplasia10.2
18chondrodysplasia punctata syndrome10.2
19hypogonadotropic hypogonadism 8 with or without anosmia10.2
20brachytelephalangy - dysmorphism - kallmann syndrome10.2
21kallmann syndrome - heart disease10.2
22ocular albinism10.1
23klippel-feil syndrome10.1
24albinism10.1
25short syndrome10.1
26congenital anosmia10.1
27fertile eunuch syndrome10.1
28kallmann syndrome/ hypogonadotropic hypogonadism multi-gene panels10.1
29hypogonadotropic hypogonadism 2 with or without anosmia10.1
30dandy-walker syndrome10.0
31paranoid schizophrenia10.0
32androgen insensitivity syndrome10.0
33atopic dermatitis10.0
34rickets10.0
35autosomal dominant disease10.0
36isolated gonadotropin-releasing hormone deficiency10.0
37moebius syndrome10.0
38complete androgen insensitivity syndrome10.0
39femur fibula ulna syndrome10.0
40hypogonadotropic hypogonadism 9 with or without anosmia10.0
41mental retardation10.0
42combined pituitary hormone deficiency10.0
43hypogonadotropic hypogonadism 13 with or without anosmia10.0
44hypogonadotropic hypogonadism 15 with or without anosmia10.0
45hypogonadotropic hypogonadism 4 with or without anosmia10.0
46hypogonadotropic hypogonadism 18 with or without anosmia10.0
47hypogonadotropic hypogonadism 7 with or without anosmia10.0
48hypogonadotropic hypogonadism 11 with or without anosmia10.0
49hypogonadotropic hypogonadism 17 with or without anosmia10.0
50hypogonadotropic hypogonadism 16 with or without anosmia10.0

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



Diseases related to kallmann syndrome

Clinical Features for Kallmann Syndrome

Sources:
47OMIM
See all sources

Clinical features from OMIM:

244200,612702,147950,612370,610628

Drugs & Therapeutics for Kallmann Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Kallmann Syndrome

Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome

Search NIH Clinical Center for Kallmann Syndrome

Search CenterWatch for Kallmann Syndrome

Genetic Tests for Kallmann Syndrome

Sources:
22GTR
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Genetic tests related to Kallmann Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadism With Anosmia22

Anatomical Context for Kallmann Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Kallmann Syndrome:

33
Brain, Heart, Kidney, Breast, Uterus, T cells, Fetal brain, Olfactory bulb, Pituitary

Animal Models for Kallmann Syndrome or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
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Publications for Kallmann Syndrome

Sources:
51PubMed
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Articles related to Kallmann Syndrome:

(show top 50)    (show all 235)
idTitleAuthorsYear
1
Early treatment of Kallmann syndrome may prevent eunuchoid appearance and behavior. (24296236)
2014
2
Kallmann syndrome and paranoid schizophrenia: a rare combination. (23329708)
2013
3
The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome. (23410897)
2013
4
Kallmann syndrome in women: from genes to diagnosis and treatment. (23368665)
2013
5
What is relationship between the medial preoptic area, the organum vasculosum of the lamina terminalis and Kallmann syndrome? (23702295)
2013
6
Genetic Overlap between Holoprosencephaly and Kallmann Syndrome. (22855648)
2012
7
A fertile male patient with Kallmann syndrome and two missense mutations in the KAL1 gene. (21168128)
2011
8
Quantitative magnetic resonance imaging evaluation of the olfactory system in Kallmann syndrome: correlation with a clinical smell test. (21606642)
2011
9
Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome. (20530987)
2011
10
Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants. (21042300)
2011
11
Genetic basis and variable phenotypic expression of Kallmann syndrome: towards a unifying theory. (21511493)
2011
12
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. (20536592)
2010
13
Kallmann syndrome and mirror movements: White matter quantitative evaluation with magnetic resonance imaging. (20211475)
2010
14
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. (20117945)
2010
15
Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1. (18723471)
2009
16
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. (19021638)
2009
17
Mutations in CHD7, encoding a chromatin-remodeling protein, cause idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (18834967)
2008
18
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. (17603054)
2007
19
X-linked Kallmann's syndrome: intra and interfamilial heterogeneity]. (17568506)
2007
20
Kallmann syndrome: somatic and germline mutations of the fibroblast growth factor receptor 1 gene in a mother and the son. (16418210)
2006
21
Gonadotrophin therapy in Kallmann syndrome caused by heterozygous mutations of the gene for fibroblast growth factor receptor 1: report of three families: case report. (15845591)
2005
22
Atypical presentation of a patient with both kallmann syndrome and a craniopharyngioma: case report and literature review. (16033733)
2005
23
Coexistence of Kallmann syndrome and complete androgen insensitivity in the same patient. (15941919)
2005
24
Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. (12007408)
2002
25
The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. (11874923)
2002
26
Kallmann syndrome (hypogonadotropism-anosmia) and Klippel-Feil anomaly in the same patient. (10649804)
2000
27
Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome. (10585565)
2000
28
Kallmann syndrome and the link between olfactory and reproductive development. (10486312)
1999
29
Kallmann syndrome gene (KAL-X) is not mutated in schizophrenia. (10050964)
1999
30
Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature. (10325262)
1999
31
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
32
A novel aminoterminal mutation in the KAL-1 gene in a large pedigree with X-linked Kallmann syndrome. (9787096)
1998
33
Case report: olfactory function in a fertile eunuch with Kallmann syndrome. (8615388)
1996
34
Kallmann syndrome in females: gonadotropin versus GnRH to induce fertility. (8982973)
1996
35
Kallmann syndrome and delayed puberty associated with agenesis of lateral maxillary incisors. (7635934)
1995
36
Kallmann syndrome and associated malformation of the uterus. (8299804)
1994
37
Kallmann syndrome: MR evaluation of olfactory system. (8352154)
1993
38
Kallmann syndrome associated with complex chromosome rearrangement. (8456820)
1993
39
Xp22.3 deletions in isolated familial Kallmann's syndrome. (8473391)
1993
40
The Kallmann's syndrome variant (KSV) model of the schizophrenias. (8461265)
1993
41
Genetic mapping of the Kallmann syndrome and X linked ocular albinism gene loci. (8301646)
1993
42
Bringing Kallmann syndrome into focus. (8352156)
1993
43
A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. (8276392)
1993
44
Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. (1303284)
1992
45
Kallmann syndrome due to a translocation resulting in an X/Y fusion gene. (1302031)
1992
46
Chromosome abnormality in Kallmann syndrome. (2309777)
1990
47
Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion. (2750777)
1989
48
Kallmann's syndrome with unilateral renal agenesis. A case report. (2877504)
1986
49
Letter: Treatment of Kallmann syndrome. (1081605)
1976
50
Hypogandotropic hypogonadism with anosmia: the Kallmann syndrome. (5317486)
1971

Genetic Variations for Kallmann Syndrome

Expression for genes affiliated with Kallmann Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
Expression patterns in normal tissues for genes affiliated with Kallmann Syndrome

Search GEO for disease gene expression data for Kallmann Syndrome.

Pathways for genes affiliated with Kallmann Syndrome

Sources:
54Reactome, 12EMD Millipore, 38NCBI BioSystems Database, 30KEGG
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Compounds for genes affiliated with Kallmann Syndrome

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 29IUPHAR, 24HMDB, 60Tocris Bioscience
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Compounds related to Kallmann Syndrome according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1forskolin45 50 1112.7FGF8, GNRHR
2degarelix45 29 1112.7GNRHR, GNRH1
3estrogen4510.7NR5A1, PCSK1
4histrelin29 4511.7GNRH1, GNRHR
5abarelix45 29 1112.7GNRH1, GNRHR
6antarelix45 2911.7GNRH1, GNRHR
7acyline4510.7GNRH1, GNRHR
8antide45 2911.7GNRHR, GNRH1
9ganirelix45 2911.7GNRHR, GNRH1
10d-trp6-lhrh4510.6GNRHR, GNRH1
11ptx14510.6GNRH1, GNRHR, NR5A1
12danazol45 11 2412.6STS, GNRHR, GNRH1
13leuprolide45 60 29 1113.6CGB5, GNRHR, GNRH1
14cetrorelix45 29 1112.6GNRH1, GNRHR, CGB5
15buserelin45 29 1112.6GNRH1, GNRHR, CGB5
16leuprolide acetate4510.6GNRH1, GNRHR, CGB5
17dmrt4510.6NR0B1, NR5A1
18(+-)-pgf2-alpha4510.6GNRH1, CGB5, NR5A1
19nafarelin45 60 29 1113.5GNRHR, GNRH1
20diethylstilbestrol45 29 1112.5GNRH1, CGB5, NR5A1
21dehydroepiandrosterone sulfate4510.5NR5A1, CGB5, STS, GNRH1
22phosphatidyl ethanol45 1111.5GNRHR, NR5A1
23estrone45 29 11 2413.5GNRH1, STS, CGB5, NR5A1
243beta-hydroxysteroid4510.5NR5A1, CGB5, STS
2517beta-hydroxysteroid4510.5STS, CGB5, NR5A1
26estradiol benzoate4510.4GNRH1, CGB5
27dihydrotestosterone45 29 11 2413.4GNRH1, GNRHR, STS, CGB5
28arsenate4510.4STS, FLG
29dhea4510.4STS, CGB5, NR5A1
30ribonucleic acid4510.3GNRH1, GNRHR, CGB5, NR5A1, PCSK1, FGFR1
31estradiol45 11 2412.3GNRH1, GNRHR, STS, CGB5, NR5A1
32goserelin45 29 1112.3GNRH1, GNRHR
33dopamine45 29 11 2413.3GNRH1, GNRHR, CGB5, FGFR1, FGF8
34adenylate4510.3GNRH1, GNRHR, CGB5, NR5A1, PCSK1, FGFR1
35progestin4510.2CGB5, STS, GNRH1
36tyrosine4510.2LHX3, STS, FLG, CGB5, FGFR1
37acth4510.2HESX1, GNRH1, CGB5, PROP1, NR5A1, NR0B1
38zinc45 2411.2STS, CGB5, NR5A1, NR0B1, FGFR1, FGF8
39tamoxifen45 50 29 1113.2GNRH1, GNRHR, STS, CGB5
40retinoic acid45 2411.2GNRH1, STS, FLG, CGB5, NR5A1, FGFR1
4122r-hydroxycholesterol45 2911.1NR5A1, CGB5
42progesterone45 60 29 11 2414.1GNRH1, GNRHR, STS, CGB5, NR5A1, NR0B1
43actinomycin d4510.1NR5A1, CGB5, GNRHR, GNRH1
44serine4510.0GNRHR, STS, FLG, CGB5, PROP1, NR5A1
45steroid4510.0STS, KAL1, GNRHR, GNRH1, FLG, CGB5
46testosterone45 60 11 2413.0NSMF, GNRH1, GNRHR, STS, CGB5, PROP1
47calcium45 50 11 2412.9GNRHR, STS, FLG, CGB5, PROKR2, NR5A1
48gf 109203x45 6010.9GNRH1, GNRHR, FLG
49gnrh459.7KISS1R, LHX3, NSMF, HESX1, GNRH1, GNRHR

GO Terms for genes affiliated with Kallmann Syndrome

Sources:
16Gene Ontology
See all sources

Biological processes related to Kallmann Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1nose developmentGO:04358410.4CHD7, HESX1
2otic vesicle formationGO:03091610.4FGF8, HESX1
3organ inductionGO:00175910.3FGF8, FGFR1
4forebrain morphogenesisGO:04885310.2FGF8, HESX1
5negative regulation of apoptotic processGO:04306610.1LHX3, GNRH1, PROP1, PROK2, FGFR1
6branching involved in salivary gland morphogenesisGO:06044510.0FGF8, FGFR1

Molecular functions related to Kallmann Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1chromatin bindingGO:00368210.1CHD7, NR5A1, PROP1, HESX1

Products for genes affiliated with Kallmann Syndrome

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Sources for Kallmann Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet