MCID: KLL001
MIFTS: 55

Kallmann Syndrome malady

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

Summaries for Kallmann Syndrome

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22Genetics Home Reference, 44NIH Rare Diseases, 66Wikipedia, 48OMIM, 34MalaCards
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NIH Rare Diseases:44 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 hypogonadotropic hypogonadism 8 with or without anosmia. An important gene associated with Kallmann Syndrome is KAL1 (Kallmann syndrome 1 sequence), and among its related pathways are Neural Crest Differentiation and Insulin receptor signalling cascade. The compounds suramin and heparan sulfate have been mentioned in the context of this disorder. Affiliated tissues include testes, hypothalamus and kidney, and related mouse phenotypes are hearing/vestibular/ear and normal.

Genetics Home Reference:22 Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.

Wikipedia:66 Kallmann syndrome is a genetic condition where the primary symptom is a failure to start puberty or a... more...

Description from OMIM:48 612370,612702,610628,244200,147950

Aliases & Classifications for Kallmann Syndrome

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9Disease Ontology, 44NIH Rare Diseases, 22Genetics Home Reference, 11DISEASES, 46Novoseek, 63UMLS, 23GTR, 48OMIM, 36MeSH, 59SNOMED-CT, 41NCIt
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Classifications:



Aliases & Descriptions:

kallmann syndrome 9 44 22 11 46 63
hypogonadism with anosmia 9 23 22
anosmic idiopathic hypogonadotropic hypogonadism 44 22
hypogonadotropic hypogonadism-anosmia syndrome 44 22
hypogonadotropic hypogonadism and anosmia 44 22
anosmic hypogonadism 44 22
kallmann's syndrome 44 22
dysplasia olfactogenitalis of de morsier 44
familial hypogonadism with anosmia 9
kallman's syndrome 9
kallman syndrome 9


External Ids:

Disease Ontology9 DOID:3614
NCIt41 C75479

Related Diseases for Kallmann Syndrome

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18GeneCards, 19GeneDecks
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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 65)
idRelated DiseaseScoreTop Affiliating Genes
1hypogonadism30.7FGFR1, KAL1, PROK2, PROKR2, KISS1R, FGF8
2hypogonadotropic hypogonadism 8 with or without anosmia30.4KISS1R
3septo-optic dysplasia30.1HESX1
4holoprosencephaly30.0HESX1, FGF8
5hypogonadotropism10.6
6kallmann syndrome 110.5
7neuronitis10.5
8x-linked ichthyosis10.3
9kallmann syndrome 210.3
10kallmann syndrome 310.3
11kallmann syndrome 410.3
12kallmann syndrome 510.3
13kallmann syndrome 610.3
14renal agenesis10.3
15chondrodysplasia10.3
16brachytelephalangy - dysmorphism - kallmann syndrome10.3
17charge syndrome10.2
18ocular albinism10.2
19schizophrenia10.2
20albinism10.2
21kallmann syndrome/ hypogonadotropic hypogonadism multi-gene panels10.2
22hypogonadotropic hypogonadism 2 with or without anosmia10.2
23kallmann syndrome - heart disease10.2
24cryptorchidism10.0KAL1, FGFR1
25paranoid schizophrenia10.0
26eunuchism10.0
27choanal atresia10.0
28cleft lip10.0
29rickets10.0
30atopic dermatitis10.0
31congenital heart disease10.0
32craniopharyngioma10.0
33dermatitis10.0
34dysostosis10.0
35hyperparathyroidism10.0
36nephrotic syndrome10.0
37isolated gonadotropin-releasing hormone deficiency10.0
38congenital anosmia10.0
39moebius 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

Symptoms for Kallmann Syndrome

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48OMIM
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Clinical features from OMIM:

612370,612702,610628,244200,147950

Drugs & Therapeutics for Kallmann Syndrome

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch for Kallmann Syndrome

Genetic Tests for Kallmann Syndrome

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23GTR
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Genetic tests related to Kallmann Syndrome:

id Genetic test Affiliating Genes
1 Hypogonadism with Anosmia23

Anatomical Context for Kallmann Syndrome

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34MalaCards
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MalaCards organs/tissues related to Kallmann Syndrome:

34
Testes, Hypothalamus, Kidney, Breast, Olfactory bulb, Bone, Brain, Fetal brain, Uterus, Heart, Pituitary

Animal Models for Kallmann Syndrome or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Kallmann Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6HESX1, FGF8, FGFR1
2MP:00028738.0HESX1, KISS1R, FGFR1, FGF8
3MP:00053797.5HESX1, PROKR2, KISS1R, FGF8, FGFR1
4MP:00107687.5HESX1, PROKR2, KISS1R, FGF8, FGFR1
5MP:00036317.2HESX1, PROK2, PROKR2, KISS1R, FGF8, FGFR1

Publications for Kallmann Syndrome

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53PubMed
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Articles related to Kallmann Syndrome:

(show top 50)    (show all 201)
idTitleAuthorsYear
1
Kallmann syndrome and paranoid schizophrenia: a rare combination. (23329708)
2013
2
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. (24031091)
2013
3
Computed tomography of the anterior skull base in Kallmann syndrome reveals specific ethmoid bone abnormalities associated with olfactory bulb defects. (23348397)
2013
4
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. (22416012)
2012
5
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. (21300340)
2011
6
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (21856375)
2011
7
Copy number variation associated with Kallmann syndrome: new genetics insights from genome-wide studies. (21076436)
2011
8
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. (20536592)
2010
9
Kallmann Syndrome and hypogonadotropic Hypogonadism.Concluding remarks. (20389094)
2010
10
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
11
FGFR1 mutations in Kallmann syndrome. (20389085)
2010
12
Kallmann syndrome and mirror movements: White matter quantitative evaluation with magnetic resonance imaging. (20211475)
2010
13
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. (20117945)
2010
14
Clinical genetics of Kallmann syndrome. (20362962)
2010
15
An unusual case of autonomous hyperparathyroidism in a patient with X-linked hypophosphatemic rickets and Kallmann syndrome. (19214032)
2009
16
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome. (18034870)
2008
17
Kallmann syndrome: a historical [corrected] clinical and molecular review]. (18345392)
2008
18
Whole-brain voxel-based morphometry in Kallmann syndrome associated with mirror movements. (18768731)
2008
19
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. (17603054)
2007
20
Correction of congenital nasal hypoplasia associated with Kallmann syndrome using self-inflating injectable tissue expander pellets. (17051117)
2006
21
Kallmann syndrome in a 47,XXX patient. (16222664)
2005
22
Diagnosis and differential diagnosis of Kallmann syndrome]. (16281511)
2005
23
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
24
Embryonic expression pattern of the Drosophila Kallmann syndrome gene kal-1. (15533820)
2004
25
Clinical and inheritance profiles of Kallmann syndrome in Jordan. (15500697)
2004
26
Kallmann syndrome: fibroblast growth factor signaling insufficiency? (15365636)
2004
27
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (12627230)
2003
28
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. (12050219)
2002
29
Kallmann syndrome--a case report. (12380326)
2002
30
A case of Kallmann syndrome: diagnostic usefulness of cranial magnetic resonance imaging]. (10965462)
2000
31
Kallmann syndrome (hypogonadotropism-anosmia) and Klippel-Feil anomaly in the same patient. (10649804)
2000
32
X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family. (10076881)
1999
33
Kallmann syndrome and the link between olfactory and reproductive development. (10486312)
1999
34
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
35
Renal abnormalities in patients with Kallmann syndrome. (10210557)
1999
36
Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation. (9727739)
1998
37
Familial Kallmann syndrome: a novel splice acceptor mutation in the KAL gene. (9554756)
1998
38
The Kallmann syndrome gene product expressed in COS cells is cleaved on the cell surface to yield a diffusible component. (8842728)
1996
39
Case report: olfactory function in a fertile eunuch with Kallmann syndrome. (8615388)
1996
40
Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene. (7677154)
1995
41
Characterization of the promoter of the human KAL gene, responsible for the X-chromosome-linked Kallmann syndrome. (7590336)
1995
42
Isolation and characterization of the gene responsible for the X chromosome-linked Kallmann syndrome. (7999985)
1994
43
Kallmann syndrome: MR evaluation of olfactory system. (8352154)
1993
44
Kallmann syndrome associated with complex chromosome rearrangement. (8456820)
1993
45
Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. (1303284)
1992
46
Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion. (1557308)
1992
47
Luteinizing hormone-releasing hormone (LHRH)-expressing cells do not migrate normally in an inherited hypogonadal (Kallmann) syndrome. (2687610)
1989
48
Kallmann syndrome: a case of twin pregnancy and review of the literature. (2500625)
1989
49
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
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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Expression for genes affiliated with Kallmann Syndrome

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kallmann Syndrome

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Pathways for genes affiliated with Kallmann Syndrome

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 54QIAGEN, 61Thomson Reuters, 13EMD Millipore, 31KEGG
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Pathways related to Kallmann Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.4FGFR1, FGF8
2
Show member pathways
9.4FGFR1, FGF8
3
Show member pathways
9.4FGF8, FGFR1
4
Show member pathways
9.4FGF8, FGFR1
5
Show member pathways
9.4FGFR1, FGF8
6
Show member pathways
9.4FGF8, FGFR1
7
Show member pathways
Peptide GPCRs39
8.7PROK2, PROKR2, KISS1R
8
Show member pathways
8.7PROK2, PROKR2, KISS1R
9
Show member pathways
8.7PROK2, PROKR2, KISS1R
10
Show member pathways
7.6PROK2, PROKR2, KISS1R, FGF8, FGFR1

Compounds for genes affiliated with Kallmann Syndrome

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46Novoseek, 30IUPHAR, 12DrugBank, 25HMDB
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Compounds related to Kallmann Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1suramin46 30 1211.4FGF8, FGFR1
2heparan sulfate46 259.9FGFR1, FGF8, KAL1
3heparin46 30 25 1211.7FGFR1, KAL1, FGF8
4gnrh468.3KAL1, HESX1, KISS1R, FGFR1

GO Terms for genes affiliated with Kallmann Syndrome

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17Gene Ontology
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Biological processes related to Kallmann Syndrome according to GeneCards/GeneDecks:

(show all 11)
idNameGO IDScoreTop Affiliating Genes
1circadian rhythmGO:0076239.7PROKR2, PROK2
2chemotaxisGO:0069359.7PROK2, KAL1
3branching involved in salivary gland morphogenesisGO:0604459.6FGF8, FGFR1
4organ inductionGO:0017599.6FGFR1, FGF8
5otic vesicle formationGO:0309169.6FGF8, HESX1
6forebrain morphogenesisGO:0488539.6FGF8, HESX1
7MAPK cascadeGO:0001659.5FGF8, FGFR1
8fibroblast growth factor receptor signaling pathwayGO:0085439.4FGFR1, FGF8
9neuropeptide signaling pathwayGO:0072189.3KISS1R, PROK2
10phosphatidylinositol-mediated signalingGO:0480159.3FGF8, FGFR1
11insulin receptor signaling pathwayGO:0082869.1FGFR1, FGF8

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

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.6FGFR1, KAL1

Products for genes affiliated with Kallmann Syndrome

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Sources for Kallmann Syndrome

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet