MCID: KLL001
MIFTS: 61

Kallmann Syndrome malady

Smell/Taste diseases, Genetic diseases categories

Summaries for Kallmann Syndrome

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21Genetics Home Reference, 42NIH Rare Diseases, 63Wikipedia, 46OMIM, 32MalaCards
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NIH Rare Diseases:42 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 hypogonadism and hypogonadotropism. 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 testes, 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...

Description from OMIM:46 244200,612702,147950,612370,610628

Aliases & Classifications for Kallmann Syndrome

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8Disease Ontology, 42NIH Rare Diseases, 21Genetics Home Reference, 10DISEASES, 44Novoseek, 60UMLS, 22GTR, 34MeSH, 46OMIM, 56SNOMED-CT, 39NCIt
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Classifications:

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


Aliases & Descriptions:

kallmann syndrome 8 42 21 10 44 60
hypogonadism with anosmia 8 22 21
anosmic idiopathic hypogonadotropic hypogonadism 42 21
hypogonadotropic hypogonadism-anosmia syndrome 42 21
hypogonadotropic hypogonadism and anosmia 42 21
anosmic hypogonadism 42 21
dysplasia olfactogenitalis of de morsier 42
familial hypogonadism with anosmia 8
kallmann's syndrome 21
kallman's syndrome 8
kallman syndrome 8


External Ids:

Disease Ontology8 DOID:3614
NCIt39 C75479

Related Diseases for Kallmann Syndrome

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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 113)
idRelated DiseaseScoreTop Affiliating Genes
1hypogonadism30.9GNRH1, GNRHR, KAL1, STS, CGB5, PROP1
2hypogonadotropism30.9GNRH1, KISS1R
3kallmann syndrome 230.4FGFR1
4x-linked ichthyosis30.4STS, FLG
5renal agenesis30.3KAL1
6charge syndrome30.2CHD7
7cleft palate29.9FGFR1
8craniopharyngioma29.9PROP1
9empty sella syndrome29.9PROP1, LHX3
10holoprosencephaly29.9LHX3, HESX1, PROP1, FGF8
11kallmann syndrome 110.4
12neuronitis10.4
13image syndrome10.3
14kallmann syndrome 310.3
15kallmann syndrome 410.3
16kallmann syndrome 510.3
17kallmann syndrome 610.3
18hypogonadotropic hypogonadism 8 with or without anosmia10.2
19brachytelephalangy - dysmorphism - kallmann syndrome10.2
20ocular albinism10.1
21klippel-feil syndrome10.1
22schizophrenia10.1
23albinism10.1
24kallmann syndrome/ hypogonadotropic hypogonadism multi-gene panels10.1
25hypogonadotropic hypogonadism 2 with or without anosmia10.1
26kallmann syndrome - heart disease10.1
27congenital anosmia10.1
28osteoglophonic dysplasia10.0FGFR1
29dwarfism10.0FGFR1, PROP1
30neonatal thyrotoxicosis10.0LHX3
31gonadal dysgenesis10.0NR0B1, NR5A1
32hyperandrogenism10.0CGB5, GNRH1
33growth hormone deficiency10.0PROP1, HESX1
34septo-optic dysplasia10.0LHX3, HESX1, PROP1
3546,xy disorder of sex development and 46,xy complete gonadal dysgenesis10.0NR5A1, NR0B1
36acth deficiency10.0HESX1, PROP1, PCSK1
37turner syndrome10.0GNRH1
38gonadal disease10.0GNRH1, NR5A1
39pituitary hypoplasia10.0PROP1, HESX1, LHX3
40aorta atresia10.0GNRH1, GNRHR, CHD7
41x-linked adrenal hypoplasia congenita10.0NR5A1, NR0B1
42panhypopituitarism10.0LHX3, HESX1, PROP1
43oligospermia10.0CGB5, GNRHR, GNRH1
44congenital adrenal hyperplasia10.0NR0B1, NR5A1, GNRH1
45uterine fibroid10.0STS, GNRHR, GNRH1
46pituitary gland disease10.0LHX3, HESX1, GNRH1, PROP1
47hypopituitarism10.0PROP1, GNRH1, HESX1, LHX3
48congenital ichthyosiform erythroderma10.0FLG, STS
49endometrial carcinoma10.0STS, GNRHR, GNRH1
50precocious puberty10.0NR0B1, CGB5, GNRHR, GNRH1

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



Diseases related to kallmann syndrome

Clinical Features for Kallmann Syndrome

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46OMIM
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Clinical features from OMIM:

244200,612702,147950,612370,610628

Drugs & Therapeutics for Kallmann Syndrome

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

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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

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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

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32MalaCards
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MalaCards organs/tissues related to Kallmann Syndrome:

32
Testes, Breast, Kidney, Olfactory bulb, Bone, Brain, Uterus, Pituitary, Fetal brain, Heart

Animal Models for Kallmann Syndrome or affiliated genes

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36MGI
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Publications for Kallmann Syndrome

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50PubMed
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Articles related to Kallmann Syndrome:

(show top 50)    (show all 204)
idTitleAuthorsYear
1
Kallmann syndrome and paranoid schizophrenia: a rare combination. (23329708)
2013
2
Profiling, Bioinformatic, and Functional Data on the Developing Olfactory/GnRH System Reveal Cellular and Molecular Pathways Essential for This Process and Potentially Relevant for the Kallmann Syndrome. (24427155)
2013
3
Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness. (23643381)
2013
4
Insulin-like Peptide 3 (INSL3) in Men With Congenital Hypogonadotropic Hypogonadism/Kallmann Syndrome and Effects of Different Modalities of Hormonal Treatment: A Single-Center Study of 281 Patients. (24243640)
2013
5
Evidence that FGFR1 loss-of-function mutations may cause variable skeletal malformations in patients with Kallmann syndrome. (23154428)
2012
6
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (21856375)
2011
7
Kallmann syndrome 1 gene is expressed in the marsupial gonad. (21123819)
2011
8
Estimation of instantaneous secretory rates and intrinsic characteristics of luteinizing hormone secretion in women with Kallmann syndrome before and after estriol administration. (22139341)
2011
9
A case of Kallmann syndrome. (22700069)
2011
10
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. (20536592)
2010
11
Biology of KAL1 and its orthologs: implications for X-linked Kallmann syndrome and the search for novel candidate genes. (20389086)
2010
12
Kallmann Syndrome and hypogonadotropic hypogonadism. Preface. (20806808)
2010
13
Kallmann syndrome. (18985070)
2009
14
Re: 12 minute consultation on anosmia--hereditary anosmia and Kallmann syndrome. (19531190)
2009
15
CHD7 mutations in patients initially diagnosed with Kallmann syndrome--the clinical overlap with CHARGE syndrome. (19021638)
2009
16
Two cases of Kallmann syndrome associated with empty sella. (17530415)
2008
17
Homozygous mutation in the prokineticin-receptor2 gene (Val274Asp) presenting as reversible Kallmann syndrome and persistent oligozoospermia: case report. (18596028)
2008
18
The complex genetics of Kallmann syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al. (18987492)
2008
19
The breakpoint identified in a balanced de novo translocation t(7;9)(p14.1;q31.3) disrupts the A-kinase (PRKA) anchor protein 2 gene (AKAP2) on chromosome 9 in a patient with Kallmann syndrome and bone anomalies. (17273791)
2007
20
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. (16606836)
2006
21
Clinical and inheritance profiles of Kallmann syndrome in Jordan. (15500697)
2004
22
Kallmann syndrome: fibroblast growth factor signaling insufficiency? (15365636)
2004
23
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. (12050219)
2002
24
A novel mutation of the KAL1 gene in monozygotic twins with Kallmann syndrome. (11124862)
2000
25
Kallmann syndrome and the link between olfactory and reproductive development. (10486312)
1999
26
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
27
Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene. (9713559)
1998
28
Secondary treatment failure without anti-human chorionic gonadotropin antibody in a patient with Kallmann syndrome. (9712456)
1998
29
Kallmann syndrome in females: gonadotropin versus GnRH to induce fertility. (8982973)
1996
30
Functionally mature olfactory neurons from two anosmic patients with Kallmann syndrome. (7552292)
1995
31
Kallmann syndrome with associated cleft lip and palate: case report and review of the literature. (7799130)
1995
32
Diagnosis of X-recessive Kallmann syndrome in early infancy. Evidence of hypoplastic rhinencephalon. (8194555)
1994
33
Kallmann syndrome and associated malformation of the uterus. (8299804)
1994
34
Kallmann syndrome: MR evaluation of olfactory system. (8352154)
1993
35
X-linked Kallmann syndrome. A neuronal targeting defect in the olfactory system? (8513884)
1993
36
Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome. (8504298)
1993
37
MR imaging of Kallmann syndrome, a genetic disorder of neuronal migration affecting the olfactory and genital systems. (8352153)
1993
38
Kallmann syndrome in two sisters with other developmental anomalies also affecting their father. (8462198)
1993
39
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
40
The gene for X-linked Kallmann syndrome: a human neuronal migration defect. (1504616)
1992
41
Kallmann syndrome gene on the X and Y chromosomes: implications for evolutionary divergence of human sex chromosomes. (1303285)
1992
42
Chromosome abnormality in Kallmann syndrome. (2309777)
1990
43
Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. (2687610)
1989
44
Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients. (3101500)
1987
45
Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome. (3480263)
1987
46
Kallmann syndrome associated with choanal atresia. (3594930)
1987
47
HLA-compatible paternity in two "fertile eunuchs" with congenital hypogonadotropic hypogonadism and anosmia (the Kallmann syndrome). (6772660)
1980
48
Familial Kallmann syndrome with unilateral renal aplasia. (1080088)
1975
49
The Kallmann syndrome. (5317487)
1971
50
Hypogandotropic hypogonadism with anosmia: the Kallmann syndrome. (5317486)
1971

Genetic Variations for Kallmann Syndrome

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Expression for genes affiliated with Kallmann Syndrome

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1BioGPS, 15Gene Expression Omnibus DataSets
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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

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53Reactome, 12EMD Millipore, 37NCBI BioSystems Database, 29KEGG
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Compounds for genes affiliated with Kallmann Syndrome

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44Novoseek, 49PharmGKB, 11DrugBank, 28IUPHAR, 24HMDB, 59Tocris Bioscience
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Compounds related to Kallmann Syndrome according to GeneCards/GeneDecks:

(show all 49)
idCompoundScoreTop Affiliating Genes
1forskolin44 49 1112.7FGF8, GNRHR
2degarelix44 28 1112.7GNRHR, GNRH1
3estrogen4410.7NR5A1, PCSK1
4histrelin28 4411.7GNRH1, GNRHR
5abarelix44 28 1112.7GNRH1, GNRHR
6antarelix44 2811.7GNRH1, GNRHR
7acyline4410.7GNRH1, GNRHR
8antide44 2811.7GNRHR, GNRH1
9ganirelix44 2811.7GNRHR, GNRH1
10d-trp6-lhrh4410.6GNRHR, GNRH1
11ptx14410.6GNRH1, GNRHR, NR5A1
12danazol44 11 2412.6STS, GNRHR, GNRH1
13leuprolide44 59 28 1113.6CGB5, GNRHR, GNRH1
14cetrorelix44 28 1112.6GNRH1, GNRHR, CGB5
15buserelin44 28 1112.6GNRH1, GNRHR, CGB5
16leuprolide acetate4410.6GNRH1, GNRHR, CGB5
17dmrt4410.6NR0B1, NR5A1
18(+-)-pgf2-alpha4410.6GNRH1, CGB5, NR5A1
19nafarelin44 59 28 1113.5GNRHR, GNRH1
20diethylstilbestrol44 28 1112.5GNRH1, CGB5, NR5A1
21dehydroepiandrosterone sulfate4410.5NR5A1, CGB5, STS, GNRH1
22phosphatidyl ethanol44 1111.5GNRHR, NR5A1
23estrone44 28 11 2413.5GNRH1, STS, CGB5, NR5A1
243beta-hydroxysteroid4410.5NR5A1, CGB5, STS
2517beta-hydroxysteroid4410.5STS, CGB5, NR5A1
26estradiol benzoate4410.4GNRH1, CGB5
27dihydrotestosterone44 28 11 2413.4GNRH1, GNRHR, STS, CGB5
28arsenate4410.4STS, FLG
29dhea4410.4STS, CGB5, NR5A1
30ribonucleic acid4410.3GNRH1, GNRHR, CGB5, NR5A1, PCSK1, FGFR1
31estradiol44 11 2412.3GNRH1, GNRHR, STS, CGB5, NR5A1
32goserelin44 28 1112.3GNRH1, GNRHR
33dopamine44 28 11 2413.3GNRH1, GNRHR, CGB5, FGFR1, FGF8
34adenylate4410.3GNRH1, GNRHR, CGB5, NR5A1, PCSK1, FGFR1
35progestin4410.2CGB5, STS, GNRH1
36tyrosine4410.2LHX3, STS, FLG, CGB5, FGFR1
37acth4410.2HESX1, GNRH1, CGB5, PROP1, NR5A1, NR0B1
38zinc44 2411.2STS, CGB5, NR5A1, NR0B1, FGFR1, FGF8
39tamoxifen44 49 28 1113.2GNRH1, GNRHR, STS, CGB5
40retinoic acid44 2411.2GNRH1, STS, FLG, CGB5, NR5A1, FGFR1
4122r-hydroxycholesterol44 2811.1NR5A1, CGB5
42progesterone44 59 28 11 2414.1GNRH1, GNRHR, STS, CGB5, NR5A1, NR0B1
43actinomycin d4410.1NR5A1, CGB5, GNRHR, GNRH1
44serine4410.0GNRHR, STS, FLG, CGB5, PROP1, NR5A1
45steroid4410.0STS, KAL1, GNRHR, GNRH1, FLG, CGB5
46testosterone44 59 11 2413.0NSMF, GNRH1, GNRHR, STS, CGB5, PROP1
47calcium44 49 11 2412.9GNRHR, STS, FLG, CGB5, PROKR2, NR5A1
48gf 109203x44 5910.9GNRH1, GNRHR, FLG
49gnrh449.7KISS1R, LHX3, NSMF, HESX1, GNRH1, GNRHR

GO Terms for genes affiliated with Kallmann Syndrome

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16Gene Ontology
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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

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet