KAL1
MCID: KLL003
MIFTS: 27

Kallmann Syndrome 1 (KAL1) malady

Summaries for Kallmann Syndrome 1

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42NIH Rare Diseases, 32MalaCards
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NIH Rare Diseases:42 Kallmann syndrome 1 is an inherited disorder characterized by delayed or absent puberty and an impaired sense of smell. other symptoms may include color blindness, cleft lip or palate, abnormal eye movements, hearing loss, failure of one of the kidneys to develop, mirror image hand movements, abnormalities of tooth development, and infertility. this disorder is a form of hypogonadotropic hypogonadism. affected males are usually born with a small penis and undescended testicles. affected females usually do not begin menstruating at puberty and have little or no breast development. kallmann syndrome 1 is the most common type of kallmann syndrome (there are four types identified at this time). it is caused by mutations in the kal1 gene and is inherited in an x-linked recessive fashion.   last updated: 12/22/2011

MalaCards: Kallmann Syndrome 1, also known as kallmann syndrome, type 1, x-linked, is related to kallmann syndrome and hypogonadism. An important gene associated with Kallmann Syndrome 1 is KAL1 (Kallmann syndrome 1 sequence). The compounds heparan sulfate and steroid have been mentioned in the context of this disorder. Affiliated tissues include eye, kidney and breast.

Aliases & Classifications for Kallmann Syndrome 1

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42NIH Rare Diseases, 22GTR, 60UMLS
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Aliases & Descriptions:

kallmann syndrome 1 42 22 60
kallmann syndrome, type 1, x-linked 42
kallmann syndrome, x-linked 42
kal1 42


Related Diseases for Kallmann Syndrome 1

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17GeneCards, 18GeneDecks
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Graphical network of the top 20 diseases related to Kallmann Syndrome 1:



Diseases related to kallmann syndrome 1

Clinical Features for Kallmann Syndrome 1

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Drugs & Therapeutics for Kallmann Syndrome 1

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5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search NIH Clinical Center for Kallmann Syndrome 1

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Genetic Tests for Kallmann Syndrome 1

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22GTR
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Genetic tests related to Kallmann Syndrome 1:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 122

Anatomical Context for Kallmann Syndrome 1

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32MalaCards
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MalaCards organs/tissues related to Kallmann Syndrome 1:

32
Eye, Kidney, Breast

Animal Models for Kallmann Syndrome 1 or affiliated genes

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Publications for Kallmann Syndrome 1

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Genetic Variations for Kallmann Syndrome 1

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Expression for genes affiliated with Kallmann Syndrome 1

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kallmann Syndrome 1

Search GEO for disease gene expression data for Kallmann Syndrome 1.

Pathways for genes affiliated with Kallmann Syndrome 1

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Compounds for genes affiliated with Kallmann Syndrome 1

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44Novoseek, 24HMDB, 28IUPHAR, 11DrugBank
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Compounds related to Kallmann Syndrome 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate44 2410.1FGFR1, KAL1
2steroid449.1FGFR1, KAL1
3gnrh449.0FGFR1, KAL1
4heparin44 28 11 2411.8FGFR1, KAL1

GO Terms for genes affiliated with Kallmann Syndrome 1

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16Gene Ontology
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Biological processes related to Kallmann Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1axon guidanceGO:0074119.1FGFR1, KAL1

Molecular functions related to Kallmann Syndrome 1 according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1heparin bindingGO:0082019.1FGFR1, KAL1

Products for genes affiliated with Kallmann Syndrome 1

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Kallmann Syndrome 1

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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