MCID: HYP548
MIFTS: 32

Hypogonadotropic Hypogonadism 2 with or Without Anosmia malady

Genetic diseases, Rare diseases categories

Aliases & Classifications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

Name: Hypogonadotropic Hypogonadism 2 with or Without Anosmia 49 11 67
Kallmann Syndrome 2 45 24 65 67
 
Kal2 45 67
Hh2 67


Classifications:



External Ids:

OMIM49 147950
MeSH36 D017436

Summaries for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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OMIM:49 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 fgfr1-related isolated gonadotropin-releasing hormone deficiency and kallmann syndrome, and has symptoms including iris coloboma, osteopenia and agenesis of corpus callosum. An important gene associated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia is FGFR1 (Fibroblast Growth Factor Receptor 1). Affiliated tissues include pituitary, olfactory bulb and heart.

UniProtKB/Swiss-Prot:67 Hypogonadotropic hypogonadism 2 with or without anosmia: A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non- reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin- releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).

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
1fgfr1-related isolated gonadotropin-releasing hormone deficiency10.3
2kallmann syndrome10.3
3hypogonadism10.1

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 19)
id Description Frequency HPO Source Accession
1 iris coloboma rare (5%) HP:0000612
2 osteopenia rare (5%) HP:0000938
3 agenesis of corpus callosum rare (5%) HP:0001274
4 clinodactyly rare (5%) HP:0030084
5 ectrodactyly rare (5%) HP:0100257
6 autosomal dominant inheritance HP:0000006
7 cryptorchidism HP:0000028
8 hypogonadotrophic hypogonadism HP:0000044
9 micropenis HP:0000054
10 cleft palate HP:0000175
11 cleft upper lip HP:0000204
12 sensorineural hearing impairment HP:0000407
13 choanal atresia HP:0000453
14 anosmia HP:0000458
15 primary amenorrhea HP:0000786
16 intellectual disability HP:0001249
17 heterogeneous HP:0001425
18 malformation of the heart and great vessels HP:0002564
19 short stature HP:0004322

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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Drugs for Hypogonadotropic Hypogonadism 2 with or Without Anosmia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 7)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Eapproved, nutraceuticalPhase 335059-02-914985
Synonyms:
(+)-a-Tocopherol
(+)-alpha-Tocopherol
(+)-alpha-tocopherol
(+)-α-tocopherol
(2R)-2,5,7,8-TETRAMETHYL-2-[(4R,8R)-4,8,12-trimethyltridecyl]chroman-6-ol
(2R)-3,4-Dihydro-2,5,7,8-tetramethyl-2-[(4R,8R)-4,8,12-trimethyltridecyl]-2H-1-benzopyran-6-ol
(2R,4'R,8'R)-a-Tocopherol
(2R,4'R,8'R)-alpha-Tocopherol
(2R,4'R,8'r)-alpha-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-alpha-tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
Amino-Opti-E
Aquasol E
D-alpha-Tocopherol
Daltose
Denamone
E-200 I.U. Softgels
 
E-Complex-600
E-Ferol
E-Vitamin succinate
Eprolin
Gordo-Vite E
Phytogermin
Phytogermine
RRR-alpha-tocopherol
RRR-alpha-tocopheryl
Tocopherol
Vitamin E
Vitamin Ea
Vitamin Plus E Softgells
Vitamin e
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
d-alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
2UbiquinonePhase 390
3TocopherolsPhase 3355
4TocotrienolsPhase 3352
5TocotrienolNutraceuticalPhase 3352
6TocopherolNutraceuticalPhase 3355
7
Coenzyme Q10NutraceuticalPhase 3101303-98-05281915
Synonyms:
(all-E)-2,3-dimethoxy-5-methyl-6-(3,7,11,15,19,23,27,31-octamethyl-2,6,10,14,18,22,26,30-dotriacontaoctaenyl)-2,5-Cyclohexadiene-1,4-dione
(all-E)-2-(3,7,11,15,19,23,27,31,35,39-decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-2,5-Cyclohexadiene-1,4-dione
2-(3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl)-5,6-dimethoxy-3-methyl-p-Benzoquinone
2-[(2E,6E,10E,14E,18E,22E,26E,30E,34E)-3,7,11,15,19,23,27,31,35,39-Decamethyl-2,6,10,14,18,22,26,30,34,38-tetracontadecaenyl]-5,6-dimethoxy-3-methyl- 2,5-Cyclohexadiene-1,4-dione
4-Ethyl-5-fluoropyrimidine
Aqua Q 10L10
Aqua Q10
Bio-Quinon
Bio-Quinone Q10
CoQ10
Coenzyme Q10
Ensorb
Kaneka Q10
Kudesan
 
Li-Q-Sorb
Liquid-Q
Neuquinon
Neuquinone
PureSorb Q 40
Q 10AA
Q-Gel
Q-Gel 100
Ubidecarenone
Ubiquinone 10
Ubiquinone 50
Ubiquinone Q10
Ubiquinone-10
Unbiquinone
Unispheres Q 10

Interventional clinical trials:

idNameStatusNCT IDPhase
1Effects of Coenzyme Q10 (CoQ) in Parkinson DiseaseTerminatedNCT00740714Phase 3
2Maximizing Mechanisms of Muscle Hypertrophy to Combat Sarcopenia in Older AdultsCompletedNCT02442479
3Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive DisordersRecruitingNCT00494169
4Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency DisordersTerminatedNCT01165619

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 224

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:

33
Pituitary, Olfactory bulb, 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:

67 (show all 60)
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
58FGFR1p.Gly70ArgVAR_072993
59FGFR1p.Val116IleVAR_072994
60FGFR1p.Val174AlaVAR_072995

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

5 (show all 14)
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 variantLikely pathogenic, risk 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 variantLikely pathogenic, Pathogenicrs121909636GRCh37Chr 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
14FGFR1NM_023110.2(FGFR1): c.565C> T (p.Arg189Cys)single nucleotide variantPathogenicGRCh37Chr 8, 38285495: 38285495

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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GO Terms 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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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet