MCID: HYP548
MIFTS: 24

Hypogonadotropic Hypogonadism 2 with or Without Anosmia malady

Genetic diseases, Rare diseases categories

Summaries for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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OMIM:45 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual... (147950) more...

MalaCards based summary: Hypogonadotropic Hypogonadism 2 with or Without Anosmia, also known as kallmann syndrome 2, is related to kallmann syndrome, and has symptoms including autosomal dominant inheritance, cryptorchidism and hypogonadotrophic hypogonadism. An important gene associated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia is FGFR1 (fibroblast growth factor receptor 1). Affiliated tissues include pituitary and heart.

Aliases & Classifications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Hypogonadotropic Hypogonadism 2 with or Without Anosmia, Aliases & Descriptions:

Name: Hypogonadotropic Hypogonadism 2 with or Without Anosmia 45 10
Kallmann Syndrome 2 41 22 60
 
Kal2 41


Classifications:

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


External Ids:

OMIM45 147950

Related Diseases for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Diseases related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1kallmann syndrome10.2

Symptoms for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Symptoms by clinical synopsis from OMIM:

147950

Clinical features from OMIM:

147950

HPO human phenotypes related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

(show all 10)
id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 cryptorchidism HP:0000028
3 hypogonadotrophic hypogonadism HP:0000044
4 sensorineural hearing impairment HP:0000407
5 choanal atresia HP:0000453
6 anosmia HP:0000458
7 intellectual disability HP:0001249
8 heterogeneous HP:0001425
9 malformation of the heart and great vessels HP:0002564
10 short stature HP:0004322

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Drug clinical trials:

Search ClinicalTrials for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Genetic tests related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

id Genetic test Affiliating Genes
1 Kallmann Syndrome 222

Anatomical Context for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

31
Pituitary, Heart

Animal Models for Hypogonadotropic Hypogonadism 2 with or Without Anosmia or affiliated genes

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Publications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

62 (show all 57)
id Symbol AA change Variation ID SNP ID
1FGFR1p.Gly97AspVAR_017885
2FGFR1p.Tyr99CysVAR_017886
3FGFR1p.Ala167SerVAR_017887
4FGFR1p.Cys277TyrVAR_017888
5FGFR1p.Val607MetVAR_017889
6FGFR1p.Trp666ArgVAR_017890
7FGFR1p.Met719ArgVAR_017891
8FGFR1p.Pro772SerVAR_017892rs56234888
9FGFR1p.Gly48SerVAR_030968
10FGFR1p.Arg78CysVAR_030970
11FGFR1p.Cys101PheVAR_030971
12FGFR1p.Val102IleVAR_030972rs55642501
13FGFR1p.Asp129AlaVAR_030973
14FGFR1p.Cys178SerVAR_030974
15FGFR1p.Asp224HisVAR_030976
16FGFR1p.Gly237AspVAR_030977
17FGFR1p.Gly237SerVAR_030978
18FGFR1p.Leu245ProVAR_030979
19FGFR1p.Arg250TrpVAR_030980
20FGFR1p.Arg254GlnVAR_030981
21FGFR1p.Gly270AspVAR_030982
22FGFR1p.Val273MetVAR_030983
23FGFR1p.Glu274GlyVAR_030984
24FGFR1p.Pro283ArgVAR_030985
25FGFR1p.Ser332CysVAR_030988
26FGFR1p.Tyr339CysVAR_030989
27FGFR1p.Ala343ValVAR_030990
28FGFR1p.Ser346CysVAR_030991
29FGFR1p.Pro366LeuVAR_030992
30FGFR1p.Ala520ThrVAR_030995
31FGFR1p.Ile538ValVAR_030996
32FGFR1p.His621ArgVAR_030997
33FGFR1p.Arg622GlyVAR_030998
34FGFR1p.Arg622GlnVAR_030999
35FGFR1p.Ser685PheVAR_031000
36FGFR1p.Gly687ArgVAR_031001
37FGFR1p.Ile693PheVAR_031002
38FGFR1p.Gly703ArgVAR_031003
39FGFR1p.Gly703SerVAR_031004
40FGFR1p.Pro722HisVAR_031005
41FGFR1p.Pro722SerVAR_031006
42FGFR1p.Asn724LysVAR_031007
43FGFR1p.Pro745SerVAR_031008
44FGFR1p.Val795IleVAR_031010
45FGFR1p.Asn117SerVAR_069288
46FGFR1p.Tyr228AspVAR_069289
47FGFR1p.Ile239ThrVAR_069290
48FGFR1p.Arg250GlnVAR_069291
49FGFR1p.Arg470LeuVAR_069292
50FGFR1p.Lys618AsnVAR_069293
51FGFR1p.Ala671ProVAR_069294
52FGFR1p.Leu342SerVAR_069954
53FGFR1p.Gly348ArgVAR_069955
54FGFR1p.Pro483ThrVAR_069956
55FGFR1p.Glu670LysVAR_069957
56FGFR1p.Glu692GlyVAR_069958
57FGFR1p.Asp768TyrVAR_069959

Clinvar genetic disease variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR1NM_023110.2(FGFR1): c.443G> A (p.Arg148His)single nucleotide variantPathogenicrs515726222GRCh37Chr 8, 38285869: 38285869
2FGFR1NM_023110.2(FGFR1): c.790A> C (p.Asn264His)single nucleotide variantPathogenicrs515726223GRCh37Chr 8, 38282173: 38282173
3FGFR1NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp)single nucleotide variantPathogenicrs515726224GRCh37Chr 8, 38275480: 38275480
4FGFR1NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile)single nucleotide variantPathogenicrs515726225GRCh37Chr 8, 38271772: 38271772
5FGFR1NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter)single nucleotide variantrisk factorrs121909628GRCh37Chr 8, 38272410: 38272410
6FGFR1NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser)single nucleotide variantrisk factorrs121909635GRCh37Chr 8, 38283676: 38283676
7FGFR1NM_023110.2(FGFR1): c.2165C> A (p.Pro722His)single nucleotide variantrisk factorrs267606805GRCh37Chr 8, 38271691: 38271691
8FGFR1NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter)single nucleotide variantPathogenicrs121909636GRCh37Chr 8, 38272087: 38272087
9FGFR1NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu)single nucleotide variantrisk factorrs121909637GRCh37Chr 8, 38275767: 38275767
10FGFR1NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser)single nucleotide variantPathogenicrs121909640GRCh37Chr 8, 38287416: 38287416
11FGFR1NM_023110.2(FGFR1): c.2292G> T (p.Gln764His)single nucleotide variantPathogenicrs121909643GRCh37Chr 8, 38271436: 38271436
12FGFR1NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr)single nucleotide variantrisk factorrs121909644GRCh37Chr 8, 38271313: 38271313
13FGFR1NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln)single nucleotide variantrisk factorrs121909645GRCh37Chr 8, 38282214: 38282214

Expression for genes affiliated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 2 with or Without Anosmia.

Pathways for genes affiliated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Compounds for genes affiliated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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GO Terms for genes affiliated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Products for genes affiliated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Sources for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet