MCID: HYP548
MIFTS: 32

Hypogonadotropic Hypogonadism 2 with or Without Anosmia malady

Categories: Genetic diseases, Rare diseases

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 51 69 12
Kallmann Syndrome 2 47 69 26 67
 
Kal2 47 69
Hh2 69

Characteristics:

HPO:

63
hypogonadotropic hypogonadism 2 with or without anosmia:
Inheritance: autosomal dominant inheritance, heterogeneous

Classifications:



External Ids:

OMIM51 147950
MeSH38 D017436

Summaries for Hypogonadotropic Hypogonadism 2 with or Without Anosmia

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OMIM:51 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 and olfactory bulb.

UniProtKB/Swiss-Prot:69 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 deficiency11.1
2kallmann syndrome10.0
3hypogonadism9.8

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

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

 63 (show all 17)
id Description HPO Frequency HPO Source Accession
1 iris coloboma63 rare (5%) HP:0000612
2 osteopenia63 rare (5%) HP:0000938
3 agenesis of corpus callosum63 rare (5%) HP:0001274
4 clinodactyly63 rare (5%) HP:0030084
5 ectrodactyly63 rare (5%) HP:0100257
6 cryptorchidism63 HP:0000028
7 hypogonadotrophic hypogonadism63 HP:0000044
8 micropenis63 HP:0000054
9 cleft palate63 HP:0000175
10 cleft upper lip63 HP:0000204
11 sensorineural hearing impairment63 HP:0000407
12 choanal atresia63 HP:0000453
13 anosmia63 HP:0000458
14 primary amenorrhea63 HP:0000786
15 intellectual disability63 HP:0001249
16 short stature63 HP:0004322
17 abnormality of cardiovascular system morphology63 HP:0030680

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 18)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
Vitamin Eapproved, nutraceutical, vet_approvedPhase 340659-02-914985
Synonyms:
(+)-a-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)-α-tocopherol
(R,R,R)-a-Tocopherol
(R,R,R)-alpha-Tocopherol
(R,R,R)-α-tocopherol
5,7,8-Trimethyltocol
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
Vitec
a-D-Tocopherol
a-Tocopherol
alpha-Tocopherol
alpha-delta-Tocopherol
alpha-tocopherol
d-α-tocopherol
delta-alpha-Tocopherol
2AntioxidantsPhase 32928
3UbiquinonePhase 3139
4TocotrienolsPhase 3402
5VitaminsPhase 35095
6Trace ElementsPhase 35802
7Protective AgentsPhase 37190
8TocopherolsPhase 3406
9MicronutrientsPhase 35802
10TocotrienolNutraceuticalPhase 3402
11
Coenzyme Q10experimental, NutraceuticalPhase 3114303-98-05281915
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 Q-10
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
12TocopherolNutraceuticalPhase 3406
13
Morphineapproved, investigational96057-27-25288826
Synonyms:
(-)(5.alpha.,6.alpha.)-7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(-)-Heroin hydrochloride
(-)-Morphine
(-)Morphine sulfate
(5R,6S,9R,13S,14R)-4,5-Epoxy-N-methyl-7-morphinen-3,6-diol
(5R,6S,9R,13S,14R)-4,5-epoxy-N-methyl-7-morphinen-3,6-diol
(5alpha,6alpha)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol
(5alpha,6alpha)-7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5alpha,6alpha)-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5alpha,6alpha)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(5α,6α)-17-methyl-7,8-didehydro-4,5-epoxymorphinan-3,6-diol
(5α,6α)-didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
(7R,7AS,12BS)-3-METHYL-2,3,4,4A,7,7A-HEXAHYDRO-1H-4,12-METHANO[1]BENZOFURO[3,2-E]ISOQUINOLINE-7,9-DIOL
(7R,7AS,12bs)-3-methyl-2,3,4,4a,7,7a-hexahydro-1H-4,12-methano[1]benzofuro[3,2-e]isoquinoline-7,9-diol
(−)-morphine
17-methyl-7,8-didehydro-4,5alpha-epoxymorphinan-3,6alpha-diol
4,5alpha-Epoxy-17-methyl-7-morphinen-3,6alpha-diol
4-methyl-(13R,14S)-12-oxa-4-azapentacyclo[9.6.1.01,13.05,17.07,18]octadeca-7(18),8,10,15-tetraene-10,14-diol
47106-99-0
57-27-2
6211-15-0 (sulfate (2:1) (salt) pentahydrate)
64-31-3
64-31-3 (sulfate (2:1) (salt) anhydrous)
7,8-Didehydro-4,5-epoxy-17-methyl-morphinan-3,6-diol
7,8-Didehydro-4,5-epoxy-17-methylmorphinan-3,6-diol
8053-16-5
85201-37-2
Apokyn
Astramorph PF
Avinza
BIDD:GT0147
C01516
CCRIS 5762
CHEBI:17303
CHEMBL70
CID5288826
Cube juice
D-(-)-Morphine
DB00295
DEA No. 9300
DepoDur
Depodur
Diacetylmorphine hydrochloride
Diamorphine hydrochloride
Dolcontin
Dreamer
Dulcontin
Duramorph PF
Duromorph
EINECS 200-320-2
Epimorph
HSDB 2134
Hard stuff
Heroin hydrochloride
Heroine hydrochloride
Hocus
 
Infumorph
Kadian
LS-91748
M-Eslon
M.O.S
MOI
MORPHINE SULFATE
MORPHINE, (5A,6A)-7,8-DIDEHYDRO-4,5-EPOXY-17-METHYLMORPHINIAN-3,6-DIOL, MORPHIUM, MORPHIA, DOLCONTIN, DUROMORPH, MORPHINA, NEPENTHE
MS Contin
MS/L
MS/S
MSIR
Meconium
MolPort-003-849-273
Morfina
Morfina [Italian]
Morphia
Morphin
Morphin [German]
Morphina
Morphina [Italian]
Morphine Extra-Forte
Morphine Forte
Morphine H.P
Morphine Sulfate
Morphine [BAN]
Morphinism
Morphinum
Morphitec
Morphium
Morpho
Moscontin
Ms Contin
Ms Emma
NSC11441
Nepenthe
O,O'-Diacetylmorphine hydrochloride
OMS Concentrate
Oramorph SR
Ospalivina
RMS
RMS Uniserts
Rescudose
Roxanol
Roxanol 100
Roxanol UD
SDZ 202-250
SDZ202-250
Statex
Statex Drops
Statex SR
UNII-76I7G6D29C
Unkie
l-Morphine
morfina
morphine
nchembio.317-comp1
nchembio.64-comp1
14
Sufentanilapproved, investigational17556030-54-741693
Synonyms:
56030-54-7
60561-17-3 (citrate)
AC1L26AJ
AC1Q5I7B
C08022
C22H30N2O2S
CHEBI:127638
CHEBI:9316
CHEMBL658
CID41693
Chronogesic
D05938
DB00708
HSDB 6760
L000580
LS-175693
MolPort-004-286-008
N-(4-(Methoxymethyl)-1-(2-(2-thienyl)ethyl)-4-piperidinyl)-N-phenylpropanamide
N-(4-(Methoxymethyl)-1-(2-(2-thienyl)ethyl)-4-piperidyl)propionanilide
 
N-[4-(methoxymethyl)-1-(2-thiophen-2-ylethyl)piperidin-4-yl]-N-phenylpropanamide
N-{4-(methoxymethyl)-1-[2-(2-thienyl)ethyl]piperidin-4-yl}-N-phenylpropanamide
N-{4-[(methyloxy)methyl]-1-[2-(2-thienyl)ethyl]piperidin-4-yl}-N-phenylpropanamide
Oprea1_120838
Oprea1_246787
PDSP1_001741
PDSP2_001724
R 30730
R-30730
SUFENTANIL
Sufentanil
Sufentanil (USAN/INN)
Sufentanil Citrate
Sufentanil [USAN:BAN:INN]
Sufentanilo
Sufentanilum
Sufentanilum [INN-Latin]
Sufentanyl
Sulfentanil
Sulfentanyl
UNII-AFE2YW0IIZ
15
Bupivacaineapproved, investigational11312180-92-9, 38396-39-32474
Synonyms:
( inverted exclamation markA)-bupivacaine
(+-)-Bupivacaine
(1)-1-Butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
(RS)-bupivacaine
(±)-bupivacaine
1-Butyl-2',6'-pipecoloxylidide
1-Butyl-N-(2,6-dimethylphenyl)-2-piperidinecarboxamide
1-butyl-N-(2,6-dimethylphenyl)piperidine-2-carboxamide
15233-43-9
2180-92-9
38396-39-3
AB00053674
AC-2096
AC1L1DRE
AC1Q5LX4
AH 250
AKOS001637202
AR-1A0242
Anekain
BPBio1_000298
BRD-A01636364-003-05-2
BSPBio_000270
BSPBio_002607
Bio-0886
Bloqueina
Bucaine
Bucaine (TN)
Bupivacaina
Bupivacaina [INN-Spanish]
Bupivacaine (INN)
Bupivacaine Carbonate
Bupivacaine HCL
Bupivacaine HCL KIT
Bupivacaine Monohydrochloride, Monohydrate
Bupivacaine [INN:BAN]
Bupivacainum
Bupivacainum [INN-Latin]
Bupivan
C07529
C18H28N2O
CBupivacaine
CHEBI:3215
CHEMBL1098
CID2474
Carbostesin
D07552
DB00297
DL-Bupivacaine
DUR-843
 
DepoBupivacaine
DivK1c_000758
EINECS 218-553-3
EINECS 253-911-2
HMS2090F12
IDI1_000758
KBio1_000758
KBio2_002004
KBio2_004572
KBio2_007140
KBio3_001827
KBioGR_001516
KBioSS_002004
KST-1A4609
L000695
LAC-43
LS-109841
LS-2222
MLS001361336
Marcaina
Marcaine
Marcaine HCL
Marcaine Spinal
MolPort-004-955-820
NCGC00178579-01
NCGC00178579-02
NINDS_000758
NSC119660
Prestwick0_000305
Prestwick1_000305
Prestwick2_000305
Prestwick3_000305
SMR000058218
SPBio_001558
SPBio_002489
Sensorcaine
Sensorcaine-MPF
Sensorcaine-MPF Spinal
Spectrum2_001589
Spectrum3_000974
Spectrum4_001098
Spectrum5_001483
Spectrum_001524
Transdur-Bupivacaine
UNII-Y8335394RO
Win 11318
Win 11318 HCl
bupivacaine
cBupivacaine
dl-1-Butyl-2',6'-pipecoloxylidide
racemic bupivacaine
16Anesthetics, Local3272
17Anesthetics9001
18Hormones13979

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
4Continuous Infusion for Pain ReliefNot yet recruitingNCT02711072
5Detailed 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 226

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:

35
Pituitary, Olfactory bulb

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:

69 (show all 60)
id Symbol AA change Variation ID SNP ID
1FGFR1p.Gly97AspVAR_017885
2FGFR1p.Tyr99CysVAR_017886rs727505373
3FGFR1p.Ala167SerVAR_017887rs121909630
4FGFR1p.Cys277TyrVAR_017888
5FGFR1p.Val607MetVAR_017889rs121909629
6FGFR1p.Trp666ArgVAR_017890
7FGFR1p.Met719ArgVAR_017891
8FGFR1p.Pro772SerVAR_017892rs56234888
9FGFR1p.Gly48SerVAR_030968rs121909640
10FGFR1p.Arg78CysVAR_030970
11FGFR1p.Cys101PheVAR_030971
12FGFR1p.Val102IleVAR_030972rs55642501
13FGFR1p.Asp129AlaVAR_030973rs765615419
14FGFR1p.Cys178SerVAR_030974
15FGFR1p.Asp224HisVAR_030976
16FGFR1p.Gly237AspVAR_030977
17FGFR1p.Gly237SerVAR_030978rs121909635
18FGFR1p.Leu245ProVAR_030979
19FGFR1p.Arg250TrpVAR_030980
20FGFR1p.Arg254GlnVAR_030981
21FGFR1p.Gly270AspVAR_030982
22FGFR1p.Val273MetVAR_030983
23FGFR1p.Glu274GlyVAR_030984rs727505369
24FGFR1p.Pro283ArgVAR_030985
25FGFR1p.Ser332CysVAR_030988
26FGFR1p.Tyr339CysVAR_030989
27FGFR1p.Ala343ValVAR_030990
28FGFR1p.Ser346CysVAR_030991
29FGFR1p.Pro366LeuVAR_030992rs121909641
30FGFR1p.Ala520ThrVAR_030995rs749758370
31FGFR1p.Ile538ValVAR_030996
32FGFR1p.His621ArgVAR_030997
33FGFR1p.Arg622GlyVAR_030998
34FGFR1p.Arg622GlnVAR_030999
35FGFR1p.Ser685PheVAR_031000
36FGFR1p.Gly687ArgVAR_031001rs727505376
37FGFR1p.Ile693PheVAR_031002
38FGFR1p.Gly703ArgVAR_031003
39FGFR1p.Gly703SerVAR_031004rs768957161
40FGFR1p.Pro722HisVAR_031005rs267606805
41FGFR1p.Pro722SerVAR_031006rs121909642
42FGFR1p.Asn724LysVAR_031007rs267606806
43FGFR1p.Pro745SerVAR_031008
44FGFR1p.Val795IleVAR_031010rs781328162
45FGFR1p.Asn117SerVAR_069288rs780765366
46FGFR1p.Tyr228AspVAR_069289
47FGFR1p.Ile239ThrVAR_069290
48FGFR1p.Arg250GlnVAR_069291rs121909645
49FGFR1p.Arg470LeuVAR_069292rs121909637
50FGFR1p.Lys618AsnVAR_069293
51FGFR1p.Ala671ProVAR_069294
52FGFR1p.Leu342SerVAR_069954rs121909638
53FGFR1p.Gly348ArgVAR_069955
54FGFR1p.Pro483ThrVAR_069956rs397515444
55FGFR1p.Glu670LysVAR_069957rs397515446
56FGFR1p.Glu692GlyVAR_069958rs397515445
57FGFR1p.Asp768TyrVAR_069959rs121909644
58FGFR1p.Gly70ArgVAR_072993rs140254426
59FGFR1p.Val116IleVAR_072994rs747842199
60FGFR1p.Val174AlaVAR_072995

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

5 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1FGFR1NM_023110.2(FGFR1): c.443G> A (p.Arg148His)SNVPathogenicrs515726222GRCh37Chr 8, 38285869: 38285869
2FGFR1NM_023110.2(FGFR1): c.790A> C (p.Asn264His)SNVPathogenicrs515726223GRCh37Chr 8, 38282173: 38282173
3FGFR1NM_023110.2(FGFR1): c.1460G> A (p.Gly487Asp)SNVPathogenicrs515726224GRCh37Chr 8, 38275480: 38275480
4FGFR1NM_023110.2(FGFR1): c.2084C> T (p.Thr695Ile)SNVPathogenicrs515726225GRCh37Chr 8, 38271772: 38271772
5FGFR1NM_023110.2(FGFR1): c.1864C> T (p.Arg622Ter)SNVLikely pathogenic, risk factorrs121909628GRCh37Chr 8, 38272410: 38272410
6FGFR1NM_023110.2(FGFR1): c.709G> A (p.Gly237Ser)SNVrisk factorrs121909635GRCh37Chr 8, 38283676: 38283676
7FGFR1NM_023110.2(FGFR1): c.2038C> T (p.Gln680Ter)SNVLikely pathogenic, Pathogenicrs121909636GRCh37Chr 8, 38272087: 38272087
8FGFR1NM_023110.2(FGFR1): c.1409G> T (p.Arg470Leu)SNVrisk factorrs121909637GRCh37Chr 8, 38275767: 38275767
9FGFR1NM_023110.2(FGFR1): c.142G> A (p.Gly48Ser)SNVPathogenicrs121909640GRCh37Chr 8, 38287416: 38287416
10FGFR1NM_023110.2(FGFR1): c.2292G> T (p.Gln764His)SNVPathogenicrs121909643GRCh37Chr 8, 38271436: 38271436
11FGFR1NM_023110.2(FGFR1): c.2302G> T (p.Asp768Tyr)SNVrisk factorrs121909644GRCh37Chr 8, 38271313: 38271313
12FGFR1NM_023110.2(FGFR1): c.749G> A (p.Arg250Gln)SNVrisk factorrs121909645GRCh37Chr 8, 38282214: 38282214
13FGFR1NM_023110.2(FGFR1): c.565C> T (p.Arg189Cys)SNVPathogenicrs863223331GRCh37Chr 8, 38285495: 38285495

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
12423898720000045200000MicrodeletionKallmann Syndrome 2

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
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet