KAL1
MCID: KLL003
MIFTS: 33

Kallmann Syndrome 1 (KAL1) malady

Genetic diseases, Rare diseases, Endocrine diseases, Reproductive diseases, Smell/Taste diseases categories
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Summaries for Kallmann Syndrome 1

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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 based summary: 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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Kallmann Syndrome 1, Aliases & Descriptions:

Name: Kallmann Syndrome 1 42 22 62
Kallmann Syndrome, Type 1, X-Linked 42
 
Kallmann Syndrome, X-Linked 42
Kal1 42


Classifications:



Related Diseases for Kallmann Syndrome 1

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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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Drug clinical trials:

Search ClinicalTrials for Kallmann Syndrome 1

Search NIH Clinical Center for Kallmann Syndrome 1

Genetic Tests for Kallmann Syndrome 1

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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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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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Articles related to Kallmann Syndrome 1:

idTitleAuthorsYear
1
Decreased expression of Kallmann syndrome 1 sequence gene (KAL1) contributes to oral squamous cell carcinoma progression and significantly correlates with poorly differentiated grade. (25060050)
2014
2
Kallmann syndrome 1 gene is expressed in the marsupial gonad. (21123819)
2011
3
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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Clinvar genetic disease variations for Kallmann Syndrome 1:

6
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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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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Sources:
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 24 1111.8FGFR1, KAL1

GO Terms for genes affiliated with Kallmann Syndrome 1

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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

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