HH2
MCID: HYP548
MIFTS: 32

Hypogonadotropic Hypogonadism 2 with or Without Anosmia (HH2) malady

Categories: Genetic diseases, Rare diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

Name: Hypogonadotropic Hypogonadism 2 with or Without Anosmia 54 66 13
Kallmann Syndrome 2 50 66 29 69
Kal2 50 66
Hh2 66

Characteristics:

HPO:

32
hypogonadotropic hypogonadism 2 with or without anosmia:
Inheritance autosomal dominant inheritance heterogeneous
Onset and clinical course incomplete penetrance


Classifications:



External Ids:

OMIM 54 147950
MeSH 42 D017436

Summaries for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

OMIM : 54 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 anosmia, agenesis of corpus callosum and clinodactyly. An important gene associated with Hypogonadotropic Hypogonadism 2 with or Without Anosmia is FGFR1 (Fibroblast Growth Factor Receptor 1). The drugs Vitamin E and Ubiquinone have been mentioned in the context of this disorder. Affiliated tissues include pituitary and olfactory bulb.

UniProtKB/Swiss-Prot : 66 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

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

id Related Disease Score Top Affiliating Genes
1 fgfr1-related isolated gonadotropin-releasing hormone deficiency 11.1
2 kallmann syndrome 10.0
3 hypogonadism 9.8

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Symptoms by clinical synopsis from OMIM:

147950

Clinical features from OMIM:

147950

Human phenotypes related to Hypogonadotropic Hypogonadism 2 with or Without Anosmia:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 anosmia 32 HP:0000458
2 agenesis of corpus callosum 32 HP:0001274
3 clinodactyly 32 HP:0030084
4 osteopenia 32 HP:0000938
5 intellectual disability 32 HP:0001249
6 sensorineural hearing impairment 32 HP:0000407
7 short stature 32 HP:0004322
8 cleft palate 32 HP:0000175
9 cryptorchidism 32 HP:0000028
10 primary amenorrhea 32 HP:0000786
11 hypogonadotrophic hypogonadism 32 HP:0000044
12 choanal atresia 32 HP:0000453
13 gynecomastia 32 HP:0000771
14 iris coloboma 32 HP:0000612
15 cleft upper lip 32 HP:0000204
16 abnormality of cardiovascular system morphology 32 HP:0030680
17 ectrodactyly 32 HP:0100257
18 micropenis 32 HP:0000054
19 bimanual synkinesia 32 HP:0001335

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

(show all 18)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Vitamin E Approved, Nutraceutical, Vet_approved Phase 3 59-02-9 14985
2 Ubiquinone Phase 3
3 Tocopherols Phase 3
4 Tocotrienols Phase 3
5 Trace Elements Phase 3
6 Vitamins Phase 3
7 Protective Agents Phase 3
8 Micronutrients Phase 3
9 Antioxidants Phase 3
10 Tocopherol Nutraceutical Phase 3
11 Tocotrienol Nutraceutical Phase 3
12
Coenzyme Q10 Experimental, Nutraceutical Phase 3 303-98-0 5281915
13
Morphine Approved, Investigational 57-27-2 5288826
14
Bupivacaine Approved, Investigational 2180-92-9, 38396-39-3 2474
15
Sufentanil Approved, Investigational 56030-54-7 41693
16 Anesthetics
17 Anesthetics, Local
18 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effects of Coenzyme Q10 (CoQ) in Parkinson Disease Terminated NCT00740714 Phase 3
2 Maximizing Mechanisms of Muscle Hypertrophy to Combat Sarcopenia in Older Adults Completed NCT02442479
3 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
4 Continuous Infusion for Pain Relief Not yet recruiting NCT02711072
5 Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency Disorders Terminated NCT01165619

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

Genetic Tests for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

id Genetic test Affiliating Genes
1 Kallmann Syndrome 2 29

Anatomical Context for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

39
Pituitary, Olfactory Bulb

Publications for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

66 (show top 50) (show all 60)
id Symbol AA change Variation ID SNP ID
1 FGFR1 p.Gly97Asp VAR_017885
2 FGFR1 p.Tyr99Cys VAR_017886 rs727505373
3 FGFR1 p.Ala167Ser VAR_017887 rs121909630
4 FGFR1 p.Cys277Tyr VAR_017888
5 FGFR1 p.Val607Met VAR_017889 rs121909629
6 FGFR1 p.Trp666Arg VAR_017890
7 FGFR1 p.Met719Arg VAR_017891
8 FGFR1 p.Pro772Ser VAR_017892 rs56234888
9 FGFR1 p.Gly48Ser VAR_030968 rs121909640
10 FGFR1 p.Arg78Cys VAR_030970
11 FGFR1 p.Cys101Phe VAR_030971
12 FGFR1 p.Val102Ile VAR_030972 rs55642501
13 FGFR1 p.Asp129Ala VAR_030973 rs765615419
14 FGFR1 p.Cys178Ser VAR_030974
15 FGFR1 p.Asp224His VAR_030976
16 FGFR1 p.Gly237Asp VAR_030977
17 FGFR1 p.Gly237Ser VAR_030978 rs121909635
18 FGFR1 p.Leu245Pro VAR_030979
19 FGFR1 p.Arg250Trp VAR_030980
20 FGFR1 p.Arg254Gln VAR_030981
21 FGFR1 p.Gly270Asp VAR_030982
22 FGFR1 p.Val273Met VAR_030983
23 FGFR1 p.Glu274Gly VAR_030984 rs727505369
24 FGFR1 p.Pro283Arg VAR_030985
25 FGFR1 p.Ser332Cys VAR_030988
26 FGFR1 p.Tyr339Cys VAR_030989
27 FGFR1 p.Ala343Val VAR_030990
28 FGFR1 p.Ser346Cys VAR_030991
29 FGFR1 p.Pro366Leu VAR_030992 rs121909641
30 FGFR1 p.Ala520Thr VAR_030995 rs749758370
31 FGFR1 p.Ile538Val VAR_030996
32 FGFR1 p.His621Arg VAR_030997
33 FGFR1 p.Arg622Gly VAR_030998
34 FGFR1 p.Arg622Gln VAR_030999
35 FGFR1 p.Ser685Phe VAR_031000
36 FGFR1 p.Gly687Arg VAR_031001 rs727505376
37 FGFR1 p.Ile693Phe VAR_031002
38 FGFR1 p.Gly703Arg VAR_031003
39 FGFR1 p.Gly703Ser VAR_031004 rs768957161
40 FGFR1 p.Pro722His VAR_031005 rs267606805
41 FGFR1 p.Pro722Ser VAR_031006 rs121909642
42 FGFR1 p.Asn724Lys VAR_031007 rs267606806
43 FGFR1 p.Pro745Ser VAR_031008
44 FGFR1 p.Val795Ile VAR_031010 rs781328162
45 FGFR1 p.Asn117Ser VAR_069288 rs780765366
46 FGFR1 p.Tyr228Asp VAR_069289
47 FGFR1 p.Ile239Thr VAR_069290
48 FGFR1 p.Arg250Gln VAR_069291 rs121909645
49 FGFR1 p.Arg470Leu VAR_069292 rs121909637
50 FGFR1 p.Lys618Asn VAR_069293

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

6 (show all 14)
id Gene Variation Type Significance SNP ID Assembly Location
1 FGFR1 NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter) single nucleotide variant Likely pathogenic,risk factor rs121909628 GRCh37 Chromosome 8, 38272410: 38272410
2 FGFR1 NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser) single nucleotide variant risk factor rs121909635 GRCh37 Chromosome 8, 38283676: 38283676
3 FGFR1 NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter) single nucleotide variant Pathogenic/Likely pathogenic rs121909636 GRCh37 Chromosome 8, 38272087: 38272087
4 FGFR1 NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu) single nucleotide variant risk factor rs121909637 GRCh37 Chromosome 8, 38275767: 38275767
5 FGFR1 NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser) single nucleotide variant Pathogenic rs121909640 GRCh37 Chromosome 8, 38287416: 38287416
6 FGFR1 NM_023110.2(FGFR1): c.2292G> T (p.Gln764His) single nucleotide variant Pathogenic rs121909643 GRCh37 Chromosome 8, 38271436: 38271436
7 FGFR1 NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr) single nucleotide variant risk factor rs121909644 GRCh37 Chromosome 8, 38271313: 38271313
8 FGFR1 NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln) single nucleotide variant risk factor rs121909645 GRCh37 Chromosome 8, 38282214: 38282214
9 FGFR1 NM_023110.2(FGFR1): c.443G> A (p.Arg148His) single nucleotide variant Pathogenic rs515726222 GRCh37 Chromosome 8, 38285869: 38285869
10 FGFR1 NM_023110.2(FGFR1): c.790A> C (p.Asn264His) single nucleotide variant Pathogenic rs515726223 GRCh37 Chromosome 8, 38282173: 38282173
11 FGFR1 NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp) single nucleotide variant Pathogenic rs515726224 GRCh37 Chromosome 8, 38275480: 38275480
12 FGFR1 NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile) single nucleotide variant Pathogenic rs515726225 GRCh37 Chromosome 8, 38271772: 38271772
13 FGFR1 NM_023110.2(FGFR1): c.565C> T (p.Arg189Cys) single nucleotide variant Pathogenic rs863223331 GRCh37 Chromosome 8, 38285495: 38285495
14 FGFR1 NM_023105.2(FGFR1): c.1444delG (p.Glu482Serfs) deletion Pathogenic rs1060499663 GRCh37 Chromosome 8, 38273531: 38273531

Copy number variations for Hypogonadotropic Hypogonadism 2 with or Without Anosmia from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 242389 8 7200000 45200000 Microdeletion Kallmann Syndrome 2

Expression for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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

Pathways for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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11 DGIdb
16 ExPASy
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65 SNOMED-CT via Orphanet
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