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, kidney and breast, 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:

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

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
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. (24031091)
2013
2
Computed tomography of the anterior skull base in Kallmann syndrome reveals specific ethmoid bone abnormalities associated with olfactory bulb defects. (23348397)
2013
3
Kallmann syndrome: MRI findings. (24251137)
2013
4
Combined use of multiplex ligation-dependent probe amplification and automatic sequencing for identification of KAL1 defects in patients with Kallmann syndrome. (23721716)
2013
5
What is relationship between the medial preoptic area, the organum vasculosum of the lamina terminalis and Kallmann syndrome? (23702295)
2013
6
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. (22416012)
2012
7
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia. (22319038)
2012
8
Kallmann syndrome in a female adolescent: a new mutation in the FGFR1 gene. (22751423)
2012
9
SEMA3A, a gene involved in axonal pathfinding, is mutated in patients with Kallmann syndrome. (22927827)
2012
10
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. (21300340)
2011
11
Copy number variation associated with Kallmann syndrome: new genetics insights from genome-wide studies. (21076436)
2011
12
Incidence, phenotypic features and molecular genetics of Kallmann syndrome in Finland. (21682876)
2011
13
Identification of two novel missense mutations in the KAL1 gene in Han Chinese subjects with Kallmann Syndrome. (20530987)
2011
14
Prokr2-deficient mice display vascular dysmorphology of the fetal testes: potential implications for Kallmann syndrome aetiology. (22223120)
2011
15
Clinical assessment and genomic landscape of a consanguineous family with three Kallmann syndrome descendants. (21042300)
2011
16
Kallmann Syndrome and hypogonadotropic Hypogonadism.Concluding remarks. (20389094)
2010
17
Keratinocyte-derived anosmin-1, an extracellular glycoprotein encoded by the X-linked Kallmann syndrome gene, is involved in modulation of epidermal nerve density in atopic dermatitis. (20219326)
2010
18
An unusual case of autonomous hyperparathyroidism in a patient with X-linked hypophosphatemic rickets and Kallmann syndrome. (19214032)
2009
19
Kallmann syndrome: a historical [corrected] clinical and molecular review]. (18345392)
2008
20
Loss-of-function mutations in the genes encoding prokineticin-2 or prokineticin receptor-2 cause autosomal recessive Kallmann syndrome. (18682503)
2008
21
Kallmann syndrome presenting as congenital ptosis in brothers. (17551340)
2007
22
Taste perception in kallmann syndrome, a model of congenital anosmia. (18194927)
2007
23
Correction of congenital nasal hypoplasia associated with Kallmann syndrome using self-inflating injectable tissue expander pellets. (17051117)
2006
24
Paediatric phenotype of Kallmann syndrome due to mutations of fibroblast growth factor receptor 1 (FGFR1). (16757108)
2006
25
C. elegans Kallmann syndrome protein KAL-1 interacts with syndecan and glypican to regulate neuronal cell migrations. (16677626)
2006
26
Diagnosis and differential diagnosis of Kallmann syndrome]. (16281511)
2005
27
Detection of gene deletions in children with chondrodysplasia punctata, ichthyosis, Kallmann syndrome, and ocular albinism by FISH studies. (16323556)
2005
28
Atypical presentation of a patient with both kallmann syndrome and a craniopharyngioma: case report and literature review. (16033733)
2005
29
MRI findings in Kallmann syndrome. (15626846)
2004
30
X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene. (12727945)
2003
31
Heparan sulfate proteoglycan-dependent induction of axon branching and axon misrouting by the Kallmann syndrome gene kal-1. (11983919)
2002
32
Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. (12007408)
2002
33
The Kallmann syndrome gene homolog in C. elegans is involved in epidermal morphogenesis and neurite branching. (11874923)
2002
34
Kallmann syndrome: adhesion, afferents, and anosmia. (12062015)
2002
35
Kallmann syndrome: towards molecular pathogenesis. (11420131)
2001
36
The importance of autosomal genes in Kallmann syndrome: genotype- phenotype correlations and neuroendocrine characteristics. (11297579)
2001
37
Characterization of the two zebrafish orthologues of the KAL-1 gene underlying X chromosome-linked Kallmann syndrome. (10585565)
2000
38
Renal abnormalities in patients with Kallmann syndrome. (10210557)
1999
39
Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene. (9554756)
1998
40
Bone loss in Kallmann syndrome. (8841280)
1996
41
Expression of the Kallmann syndrome gene in human fetal brain and in the manipulated chick embryo. (7849694)
1994
42
Congenital heart disease associated with sporadic Kallmann syndrome. (8322819)
1993
43
Characterization of the chicken and quail homologues of the human gene responsible for the X-linked Kallmann syndrome. (8406507)
1993
44
A yeast artificial chromosome contig linking the steroid sulfatase and Kallmann syndrome loci on the human X chromosome short arm. (8276392)
1993
45
The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. (1913827)
1991
46
Chromosome abnormalities in and pathogenesis of Kallmann syndrome. (2082963)
1990
47
Ophthalmic midline dysgenesis in Kallmann syndrome. (3438056)
1987
48
X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome. (3007328)
1986
49
Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases. (6812419)
1982
50
Letter: Treatment of Kallmann syndrome. (1081605)
1976

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