KAL1
MCID: KLL003
MIFTS: 32

Kallmann Syndrome 1 (KAL1) malady

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

Summaries for Kallmann Syndrome 1

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44NIH Rare Diseases, 34MalaCards
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NIH Rare Diseases:44 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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44NIH Rare Diseases, 23GTR, 63UMLS
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Classifications:



Aliases & Descriptions:

kallmann syndrome 1 44 23 63
kallmann syndrome, type 1, x-linked 44
kallmann syndrome, x-linked 44
kal1 44


Related Diseases for Kallmann Syndrome 1

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18GeneCards, 19GeneDecks
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Graphical network of diseases related to Kallmann Syndrome 1:



Diseases related to kallmann syndrome 1

Symptoms for Kallmann Syndrome 1

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Drugs & Therapeutics for Kallmann Syndrome 1

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6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome 1

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Genetic Tests for Kallmann Syndrome 1

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23GTR
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Genetic tests related to Kallmann Syndrome 1:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 123

Anatomical Context for Kallmann Syndrome 1

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34MalaCards
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MalaCards organs/tissues related to Kallmann Syndrome 1:

34
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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53PubMed
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Articles related to Kallmann Syndrome 1:

idTitleAuthorsYear
1
Kallmann syndrome 1 gene is expressed in the marsupial gonad. (21123819)
2011
2
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

Variations for Kallmann Syndrome 1

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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Kallmann Syndrome 1:

1
id Gene Name Type Significance SNP ID Assembly Location
1KAL1NM_000216.2(KAL1): c.711G> A (p.Trp237Ter)single nucleotide variantPathogenicrs137852512GRCh37Chr X, 8555850: 8555850
2KAL1NM_000216.2(KAL1): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs137852513GRCh37Chr X, 8553395: 8553395
3KAL1NM_000216.2(KAL1): c.774G> A (p.Trp258Ter)single nucleotide variantPathogenicrs137852514GRCh37Chr X, 8553390: 8553390
4KAL1NM_000216.2(KAL1): c.1540G> A (p.Glu514Lys)single nucleotide variantPathogenicrs137852515GRCh37Chr X, 8504893: 8504893
5KAL1NM_000216.2(KAL1): c.784C> T (p.Arg262Ter)single nucleotide variantPathogenicrs137852516GRCh37Chr X, 8553380: 8553380
6KAL1NM_000216.2(KAL1): c.1187C> T (p.Ser396Leu)single nucleotide variantPathogenicrs137852517GRCh37Chr X, 8536293: 8536293
7KAL1NM_000216.2(KAL1): c.1062+1G> Tsingle nucleotide variantPathogenicrs387906427GRCh37Chr X, 8538539: 8538539
8KAL1NM_000216.2(KAL1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh37Chr X, 8700077: 8700077
9KAL1NM_000216.2(KAL1): c.1449+2delTdeletionPathogenicrs397518425GRCh37Chr X, 8507703: 8507703

Expression for genes affiliated with Kallmann Syndrome 1

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Kallmann Syndrome 1

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Pathways for genes affiliated with Kallmann Syndrome 1

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Compounds for genes affiliated with Kallmann Syndrome 1

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46Novoseek, 25HMDB, 30IUPHAR, 12DrugBank
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Compounds related to Kallmann Syndrome 1 according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1heparan sulfate46 2510.1FGFR1, KAL1
2steroid469.1FGFR1, KAL1
3gnrh469.0FGFR1, KAL1
4heparin46 30 25 1211.8FGFR1, KAL1

GO Terms for genes affiliated with Kallmann Syndrome 1

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17Gene 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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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