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MCID: KLL001
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Kallmann Syndrome malady |
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34 drugs, 46 genes, 6 tissues, 253 related diseases, 12 phenotypes, 109 articles, clinical trials, genetic tests.
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Sources: 30NIH Rare Diseases, 17Genetics Home Reference, 44Wikipedia, 15GeneReviews, 22MalaCards See all sources Export this MalaCard |
NIH Rare Diseases: 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 FGF8.30
MalaCards: Kallmann Syndrome, also known as hypogonadotropic hypogonadism-anosmia syndrome, is related to adrenal hypoplasia and kallmann syndrome 1. An important gene associated with Kallmann Syndrome is KAL1 (Kallmann syndrome 1 sequence), and among its related pathways are Development_Role of Activin A in cell differentiation and proliferation and Development Role of Activin A in cell differentiation and proliferation. The drugs estropipate and polyestradiol and the compounds degarelix and antarelix have been mentioned in the context of this disorder. Affiliated tissues include brain, kidney and breast, and related mouse phenotypes are hearing/vestibular/ear and craniofacial. Genetics Home Reference: Kallmann syndrome is a condition characterized by delayed or absent puberty and an impaired sense of smell.17 Wikipedia: Kallmann syndrome is a genetic condition which results in the failure to commence or the non-completion...44 more... GeneReviews summary for kms |
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Sources: 6Disease Ontology, 7diseasecard, 15GeneReviews, 30NIH Rare Diseases, 16GeneTests, 17Genetics Home Reference, 8DISEASES, 33OMIM, 32Novoseek , 43UMLS, 40SNOMED-CT, 27NCIt, 24MeSH See all sources |
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Sources: 4CenterWatch, 29NIH Clinical Center, 5ClinicalTrials, 43UMLS, 28NDF-RT See all sources |
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 Inferred drug relations via UMLS/NDF-RT:43 28 black cohosh, black cohosh extract, bromocriptine, bromocriptine mesylate, chlorotrianisene, estradiol, estradiol 17-beta, estradiol acetate, estradiol cypionate, estradiol pwdr [va product], estradiol valerate, estrogens, estrogens,conjugated, estrogens,conjugated synthetic a, estrogens,conjugated synthetic b, estrogens,esterified, estrone, estrone sodium sulfate, estropipate, ethinyl estradiol, ethynodiol diacetate, fluoxymesterone, methyltestosterone, methyltestosterone pwdr [va product], norethindrone, norethindrone acetate, polyestradiol, polyestradiol phosphate, testosterone, testosterone cypionate, testosterone enanthate, testosterone propionate, testosterone propionate pwdr [va product], testosterone pwdr [va product] |
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Sources: 16GeneTests See all sources |
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Sources: 22MalaCards See all sources |
MalaCards organs/tissues related to kallmann syndrome:22Brain, Kidney, Breast, T cells, Fetal brain, Olfactory bulb
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Sources: 25MGI See all sources |
MGI Mouse Phenotypes related to kallmann syndrome:25 (show all 12)
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Sources: 35PubMed See all sources |
Articles related to kallmann syndrome:(show top 50) (show all 109)
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Sources: 1BioGPS See all sources |
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Sources: 41Thomson Reuters, 10EMD Millipore, 20KEGG, 38Reactome See all sources |
Pathways related to kallmann syndrome according to GeneDecks:
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Sources: 32Novoseek , 9DrugBank, 42Tocris Bioscience, 34PharmGKB, 18HMDB See all sources |
Compounds related to kallmann syndrome according to GeneDecks:(show top 50) (show all 66)
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Sources: 12Gene Ontology See all sources |
Biological processes related to kallmann syndrome according to GeneDecks:(show all 7)
Molecular functions related to kallmann syndrome according to GeneDecks:
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