MCID: KLL001
MIFTS: 57

Kallmann Syndrome malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Smell/Taste diseases categories
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Summaries for Kallmann Syndrome

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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 based summary: Kallmann Syndrome, also known as hypogonadism with anosmia, is related to septo-optic dysplasia 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, kidney and breast, and related mouse phenotypes are hearing/vestibular/ear and normal.

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

Wikipedia:65 Kallmann syndrome is a genetic condition where the primary symptom is a failure to start puberty or a... more...

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

Aliases & Classifications for Kallmann Syndrome

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Kallmann Syndrome, Aliases & Descriptions:

Name: Kallmann Syndrome 8 42 21 10 44 62
Hypogonadism with Anosmia 8 22 21 62
Anosmic Idiopathic Hypogonadotropic Hypogonadism 42 21 62
Hypogonadotropic Hypogonadism-Anosmia Syndrome 42 21 62
Anosmic Hypogonadism 42 21 62
Hypogonadotropic Hypogonadism and Anosmia 42 21
 
Dysplasia Olfactogenitalis of De Morsier 42 62
Familial Hypogonadism with Anosmia 8 62
Kallmann's Syndrome 42 21
Kallman's Syndrome 8 62
Kallman Syndrome 8


Classifications:



External Ids:

Disease Ontology8 DOID:3614
NCIt39 C75479

Related Diseases for Kallmann Syndrome

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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 67)
idRelated DiseaseScoreTop Affiliating Genes
1septo-optic dysplasia30.5HESX1
2hypogonadotropic hypogonadism 8 with or without anosmia30.3KISS1R
3holoprosencephaly29.8HESX1, FGF8
4hypogonadism29.8FGFR1, KAL1, PROK2, PROKR2, KISS1R, FGF8
5hypogonadotropism10.7
6kallmann syndrome 110.6
7neuronitis10.5
8kallmann syndrome 310.4
9x-linked ichthyosis10.3
10renal agenesis10.3
11kallmann syndrome 210.3
12kallmann syndrome 410.3
13kallmann syndrome 510.3
14kallmann syndrome 610.3
15chondrodysplasia10.3
16hypogonadotropic hypogonadism 9 with or without anosmia10.3
17brachytelephalangy - dysmorphism - kallmann syndrome10.3
18schizophrenia10.2
19charge syndrome10.2
20ocular albinism10.2
21albinism10.2
22kallmann syndrome/ hypogonadotropic hypogonadism multi-gene panels10.2
23hypogonadotropic hypogonadism 2 with or without anosmia10.2
24kallmann syndrome - heart disease10.2
25cryptorchidism10.1KAL1, FGFR1
26infectious mononucleosis10.0FGFR1, FGF8
27paranoid schizophrenia10.0
28oral squamous cell carcinoma10.0
29eunuchism10.0
30choanal atresia10.0
31cleft lip10.0
32rickets10.0
33atopic dermatitis10.0
34congenital heart disease10.0
35craniopharyngioma10.0
36dermatitis10.0
37dysostosis10.0
38hyperparathyroidism10.0
39nephrotic syndrome10.0
40isolated gonadotropin-releasing hormone deficiency10.0
41congenital anosmia10.0
42moebius syndrome10.0
43mental retardation10.0
44combined pituitary hormone deficiency10.0
45hypogonadotropic hypogonadism 13 with or without anosmia10.0
46hypogonadotropic hypogonadism 15 with or without anosmia10.0
47hypogonadotropic hypogonadism 4 with or without anosmia10.0
48hypogonadotropic hypogonadism 18 with or without anosmia10.0
49hypogonadotropic hypogonadism 7 without anosmia10.0
50hypogonadotropic hypogonadism 11 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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Clinical features from OMIM:

147950,610628,244200,612370,612702

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:

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

Animal Models for Kallmann Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Kallmann Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053778.6FGFR1, FGF8, HESX1
2MP:00028738.0HESX1, KISS1R, FGF8, FGFR1
3MP:00053797.5HESX1, PROKR2, KISS1R, FGF8, FGFR1
4MP:00107687.5PROKR2, KISS1R, FGF8, FGFR1, HESX1
5MP:00036317.2FGFR1, FGF8, KISS1R, PROKR2, PROK2, HESX1

Publications for Kallmann Syndrome

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Articles related to Kallmann Syndrome:

(show top 50)    (show all 217)
idTitleAuthorsYear
1
Pituitary stalk interruption and olfactory bulbs aplasia/hypoplasia in a man with Kallmann syndrome and reversible gonadotrope and somatotrope deficiencies. (25381604)
2014
2
A novel nonsense mutation of the KAL1 gene (p.Trp204*) in Kallmann syndrome. (25328414)
2014
3
Mutations in FEZF1 cause Kallmann syndrome. (25192046)
2014
4
Re: Identification of HESX1 mutations in Kallmann syndrome. (24703149)
2014
5
Kallmann syndrome and paranoid schizophrenia: a rare combination. (23329708)
2013
6
Greater prevalence of PROKR2 mutations in Kallmann syndrome patients from the Maghreb than in European patients. (24031091)
2013
7
Computed tomography of the anterior skull base in Kallmann syndrome reveals specific ethmoid bone abnormalities associated with olfactory bulb defects. (23348397)
2013
8
SEMA3A deletion in a family with Kallmann syndrome validates the role of semaphorin 3A in human puberty and olfactory system development. (22416012)
2012
9
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. (21300340)
2011
10
The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. (21856375)
2011
11
Copy number variation associated with Kallmann syndrome: new genetics insights from genome-wide studies. (21076436)
2011
12
Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations. (20536592)
2010
13
Kallmann Syndrome and hypogonadotropic Hypogonadism.Concluding remarks. (20389094)
2010
14
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
15
FGFR1 mutations in Kallmann syndrome. (20389085)
2010
16
Kallmann syndrome and mirror movements: White matter quantitative evaluation with magnetic resonance imaging. (20211475)
2010
17
Novel insights in FGFR1 regulation: lessons from Kallmann syndrome. (20117945)
2010
18
Diversity in fibroblast growth factor receptor 1 regulation: learning from the investigation of Kallmann syndrome. (18034870)
2008
19
Kallmann syndrome: a historical [corrected] clinical and molecular review]. (18345392)
2008
20
Whole-brain voxel-based morphometry in Kallmann syndrome associated with mirror movements. (18768731)
2008
21
Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome. (17603054)
2007
22
Correction of congenital nasal hypoplasia associated with Kallmann syndrome using self-inflating injectable tissue expander pellets. (17051117)
2006
23
Kallmann syndrome in a 47,XXX patient. (16222664)
2005
24
Diagnosis and differential diagnosis of Kallmann syndrome]. (16281511)
2005
25
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
26
Embryonic expression pattern of the Drosophila Kallmann syndrome gene kal-1. (15533820)
2004
27
Clinical and inheritance profiles of Kallmann syndrome in Jordan. (15500697)
2004
28
Kallmann syndrome: fibroblast growth factor signaling insufficiency? (15365636)
2004
29
Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. (12627230)
2003
30
Identification of three novel mutations in the KAL1 gene in patients with Kallmann syndrome. (12050219)
2002
31
A case of Kallmann syndrome: diagnostic usefulness of cranial magnetic resonance imaging]. (10965462)
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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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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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
9.4FGFR1, FGF8
4
Show member pathways
9.4FGFR1, FGF8
5
Show member pathways
9.4FGF8, FGFR1
6
Show member pathways
9.4FGFR1, FGF8
7
Show member pathways
8.7PROK2, PROKR2, KISS1R
8
Show member pathways
Peptide GPCRs37
8.7KISS1R, PROKR2, PROK2
9
Show member pathways
8.7KISS1R, PROKR2, PROK2
10
Show member pathways
7.6PROK2, PROKR2, KISS1R, FGF8, FGFR1

Compounds for genes affiliated with Kallmann Syndrome

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Sources:
44Novoseek, 28IUPHAR, 11DrugBank, 24HMDB
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Compounds related to Kallmann Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1suramin44 28 1111.4FGFR1, FGF8
2heparan sulfate44 249.9KAL1, FGF8, FGFR1
3heparin44 28 24 1111.7FGFR1, FGF8, KAL1
4gnrh448.3FGFR1, KISS1R, HESX1, KAL1

GO Terms for genes affiliated with Kallmann Syndrome

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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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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet