MCID: HYP513
MIFTS: 31

Hypogonadotropic Hypogonadism 1 with or Without Anosmia malady

Genetic diseases, Rare diseases categories

Summaries for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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OMIM:45 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual... (308700) more...

MalaCards based summary: Hypogonadotropic Hypogonadism 1 with or Without Anosmia, also known as kallmann syndrome 1, is related to kallmann syndrome and hypogonadism, and has symptoms including cryptorchidism, testicular atrophy and hypogonadotrophic hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia is KAL1 (Kallmann syndrome 1 sequence). Affiliated tissues include eye, kidney and breast.

NIH Rare Diseases:41 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

Aliases & Classifications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Hypogonadotropic Hypogonadism 1 with or Without Anosmia, Aliases & Descriptions:

Name: Hypogonadotropic Hypogonadism 1 with or Without Anosmia 45 10
Kallmann Syndrome 1 41 22 60
Kallmann Syndrome, Type 1, X-Linked 41
 
Kallmann Syndrome, X-Linked 41
Kal1 41


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases, Rare diseases


External Ids:

OMIM45 308700

Related Diseases for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Graphical network of diseases related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:



Diseases related to hypogonadotropic hypogonadism 1 with or without anosmia

Symptoms for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Symptoms by clinical synopsis from OMIM:

308700

Clinical features from OMIM:

308700

HPO human phenotypes related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

(show all 18)
id Description Frequency HPO Source Accession
1 cryptorchidism HP:0000028
2 testicular atrophy HP:0000029
3 hypogonadotrophic hypogonadism HP:0000044
4 micropenis HP:0000054
5 unilateral renal agenesis HP:0000122
6 high palate HP:0000218
7 anosmia HP:0000458
8 gynecomastia HP:0000771
9 ataxia HP:0001251
10 bimanual synkinesia HP:0001335
11 olfactory lobe agenesis HP:0001341
12 x-linked inheritance HP:0001417
13 pes cavus HP:0001761
14 sparse pubic hair HP:0002225
15 leydig cell insensitivity to gonadotropin HP:0002929
16 hypothalamic gonadotropin-releasing hormone (gnrh) deficiency HP:0003164
17 impaired fsh and lh secretion HP:0003295
18 eunuchoid habitus HP:0003782

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Drug clinical trials:

Search ClinicalTrials for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Genetic tests related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 122

Anatomical Context for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

31
Eye, Kidney, Breast, Pituitary

Animal Models for Hypogonadotropic Hypogonadism 1 with or Without Anosmia or affiliated genes

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Publications for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

62 (show all 13)
id Symbol AA change Variation ID SNP ID
1KAL1p.Asn267LysVAR_007720
2KAL1p.Glu514LysVAR_012742rs28937309
3KAL1p.Cys163TyrVAR_031012
4KAL1p.Cys172ArgVAR_031013
5KAL1p.Arg262ProVAR_031014
6KAL1p.Asn304SerVAR_031015
7KAL1p.Ser396LeuVAR_031016rs137852517
8KAL1p.Phe517LeuVAR_031017
9KAL1p.Trp571ArgVAR_031018
10KAL1p.Cys134GlyVAR_065362
11KAL1p.Cys163ArgVAR_065363
12KAL1p.Glu539LysVAR_065364
13KAL1p.Val587LeuVAR_069968

Clinvar genetic disease variations for Hypogonadotropic Hypogonadism 1 with or Without Anosmia:

6 (show all 16)
id Gene Variation Type Significance SNP ID Assembly Location
1KAL1KAL1, 3,300-BP DELdeletionPathogenic
2KAL1NM_000216.2(KAL1): c.711G> A (p.Trp237Ter)single nucleotide variantPathogenicrs137852512GRCh37Chr X, 8555850: 8555850
3KAL1NM_000216.2(KAL1): c.769C> T (p.Arg257Ter)single nucleotide variantPathogenicrs137852513GRCh37Chr X, 8553395: 8553395
4KAL1NM_000216.2(KAL1): c.774G> A (p.Trp258Ter)single nucleotide variantPathogenicrs137852514GRCh37Chr X, 8553390: 8553390
5KAL1KAL1, 1-BP DEL, PRO277FSdeletionPathogenic
6KAL1KAL1, EX3-5DELdeletionPathogenic
7KAL1NM_000216.2(KAL1): c.1540G> A (p.Glu514Lys)single nucleotide variantPathogenicrs137852515GRCh37Chr X, 8504893: 8504893
8KAL1KAL1, EX5DELdeletionPathogenic
9KAL1KAL1, 11-BP DUP, NT158duplicationPathogenic
10KAL1NM_000216.2(KAL1): c.784C> T (p.Arg262Ter)single nucleotide variantPathogenicrs137852516GRCh37Chr X, 8553380: 8553380
11KAL1KAL1, EX3-13 DELdeletionPathogenic
12KAL1NM_000216.2(KAL1): c.1187C> T (p.Ser396Leu)single nucleotide variantPathogenicrs137852517GRCh37Chr X, 8536293: 8536293
13KAL1KAL1, EX3-6 DELdeletionPathogenic
14KAL1NM_000216.2(KAL1): c.1062+1G> Tsingle nucleotide variantPathogenicrs387906427GRCh37Chr X, 8538539: 8538539
15KAL1NM_000216.2(KAL1): c.1A> G (p.Met1Val)single nucleotide variantPathogenicGRCh37Chr X, 8700077: 8700077
16KAL1NM_000216.2(KAL1): c.1449+2delTdeletionPathogenicrs397518425GRCh37Chr X, 8507703: 8507703

Expression for genes affiliated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 1 with or Without Anosmia.

Pathways for genes affiliated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Compounds for genes affiliated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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GO Terms for genes affiliated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Products for genes affiliated with Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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Sources for Hypogonadotropic Hypogonadism 1 with or Without Anosmia

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3CDC
13ExPASy
14FMA
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23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
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45OMIM
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50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet