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NIHH
MCID: NRM018
MIFTS: 45

Normosmic Congenital Hypogonadotropic Hypogonadism (NIHH)

Categories: Endocrine diseases, Rare diseases, Reproductive diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes
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Aliases & Classifications for Normosmic Congenital Hypogonadotropic Hypogonadism

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MalaCards integrated aliases for Normosmic Congenital Hypogonadotropic Hypogonadism:

Name: Normosmic Congenital Hypogonadotropic Hypogonadism 58
Normosmic Idiopathic Hypogonadotropic Hypogonadism 58
Nihh 58

Characteristics:

Orphanet epidemiological data:

58
normosmic congenital hypogonadotropic hypogonadism
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:

MalaCards categories:
Global: Rare diseases
Anatomical: Reproductive diseases Endocrine diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare infertility disorders
Rare gynaecological and obstetric diseases
Rare endocrine diseases


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Summaries for Normosmic Congenital Hypogonadotropic Hypogonadism

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MalaCards based summary : Normosmic Congenital Hypogonadotropic Hypogonadism, also known as normosmic idiopathic hypogonadotropic hypogonadism, is related to hypogonadotropic hypogonadism 1 with or without anosmia and congenital hypogonadotropic hypogonadism. An important gene associated with Normosmic Congenital Hypogonadotropic Hypogonadism is GNRHR (Gonadotropin Releasing Hormone Receptor), and among its related pathways/superpathways are Peptide ligand-binding receptors and Signaling by GPCR. Affiliated tissues include pituitary, breast and ovary, and related phenotypes are delayed skeletal maturation and cryptorchidism

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Related Diseases for Normosmic Congenital Hypogonadotropic Hypogonadism

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Diseases related to Normosmic Congenital Hypogonadotropic Hypogonadism via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 1 with or without anosmia 32.6 FGFR1 ANOS1
2 congenital hypogonadotropic hypogonadism 30.3 GNRHR FGFR1 FGF8 DUSP6 CHD7 ANOS1
3 coloboma of macula 29.5 TACR3 PROKR2 PROK2 GNRHR FGFR1 FGF8
4 hypogonadotropic hypogonadism 7 with or without anosmia 28.0 WDR11 SPRY4 PROKR2 POLR3B GNRHR GNRH1
5 cryptorchidism, unilateral or bilateral 27.7 TACR3 TAC3 SPRY4 PROKR2 PROK2 NSMF
6 hypogonadotropic hypogonadism 26.6 WDR11 TACR3 TAC3 SPRY4 PROKR2 PROK2
7 hypogonadism 26.6 WDR11 TACR3 TAC3 SPRY4 PROKR2 PROK2
8 kallmann syndrome 26.2 WDR11 TACR3 TAC3 SPRY4 PROKR2 PROK2
9 hypogonadotropic hypogonadism 2 with or without anosmia 11.5
10 hypogonadotropic hypogonadism 4 with or without anosmia 11.5
11 hypogonadotropic hypogonadism 3 with or without anosmia 11.5
12 hypogonadotropic hypogonadism 5 with or without anosmia 11.5
13 hypogonadotropic hypogonadism 6 with or without anosmia 11.5
14 hypogonadotropic hypogonadism 9 with or without anosmia 11.5
15 hypogonadotropic hypogonadism 10 with or without anosmia 11.5
16 hypogonadotropic hypogonadism 11 with or without anosmia 11.5
17 hypogonadotropic hypogonadism 12 with or without anosmia 11.5
18 hypogonadotropic hypogonadism 13 with or without anosmia 11.5
19 hypogonadotropic hypogonadism 14 with or without anosmia 11.5
20 hypogonadotropic hypogonadism 15 with or without anosmia 11.5
21 hypogonadotropic hypogonadism 16 with or without anosmia 11.5
22 hypogonadotropic hypogonadism 17 with or without anosmia 11.5
23 hypogonadotropic hypogonadism 18 with or without anosmia 11.5
24 hypogonadotropic hypogonadism 19 with or without anosmia 11.5
25 hypogonadotropic hypogonadism 20 with or without anosmia 11.5
26 hypogonadotropic hypogonadism 21 with or without anosmia 11.5
27 hypogonadotropic hypogonadism 22 with or without anosmia 11.5
28 hypogonadotropic hypogonadism 25 with anosmia 11.3
29 amenorrhea 10.4
30 cleft lip 10.4
31 cleft lip/palate 10.4
32 retinitis pigmentosa 67 10.3 TACR3 TAC3
33 anosmia, isolated congenital 10.2
34 cleft palate, isolated 10.2
35 branchiootic syndrome 1 10.2
36 hypospadias 10.2
37 azoospermia 10.2
38 heart septal defect 10.2
39 atrial heart septal defect 10.2
40 anovulation 10.2
41 kallmann syndrome 4 10.2
42 glucocorticoid deficiency 1 10.2 KISS1R KISS1
43 hypogonadotropic hypogonadism 8 with or without anosmia 10.2
44 infertility 10.2
45 hypoglycemia 10.2
46 isolated gonadotropin-releasing hormone deficiency 10.2
47 growth hormone deficiency 10.2
48 penis agenesis 10.2 GNRH1 BBIP1
49 central precocious puberty 10.2 KISS1R KISS1 GNRH1
50 precocious puberty 10.2 KISS1R KISS1 GNRH1

Graphical network of the top 20 diseases related to Normosmic Congenital Hypogonadotropic Hypogonadism:



Diseases related to Normosmic Congenital Hypogonadotropic Hypogonadism
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Symptoms & Phenotypes for Normosmic Congenital Hypogonadotropic Hypogonadism

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Human phenotypes related to Normosmic Congenital Hypogonadotropic Hypogonadism:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028
3 wide intermamillary distance 58 31 hallmark (90%) Very frequent (99-80%) HP:0006610
4 primary amenorrhea 58 31 hallmark (90%) Very frequent (99-80%) HP:0000786
5 micropenis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000054
6 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
7 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
8 decreased testicular size 58 31 hallmark (90%) Very frequent (99-80%) HP:0008734
9 impotence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000802
10 male hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000026
11 breast hypoplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003187
12 absence of secondary sex characteristics 58 31 hallmark (90%) Very frequent (99-80%) HP:0008187
13 eunuchoid habitus 58 31 hallmark (90%) Very frequent (99-80%) HP:0003782
14 decreased serum testosterone level 58 31 hallmark (90%) Very frequent (99-80%) HP:0040171
15 female hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000134
16 absence of pubertal development 58 31 hallmark (90%) Very frequent (99-80%) HP:0008197
17 non-obstructive azoospermia 58 31 hallmark (90%) Very frequent (99-80%) HP:0011961
18 increased female libido 58 31 hallmark (90%) Very frequent (99-80%) HP:0030019
19 hypogonadotropic hypogonadism 31 hallmark (90%) HP:0000044
20 depressivity 58 31 frequent (33%) Frequent (79-30%) HP:0000716
21 osteopenia 58 31 frequent (33%) Frequent (79-30%) HP:0000938
22 delayed puberty 58 31 frequent (33%) Frequent (79-30%) HP:0000823
23 osteoporosis 58 31 frequent (33%) Frequent (79-30%) HP:0000939
24 anxiety 58 31 frequent (33%) Frequent (79-30%) HP:0000739
25 secondary amenorrhea 58 31 frequent (33%) Frequent (79-30%) HP:0000869
26 gynecomastia 58 31 frequent (33%) Frequent (79-30%) HP:0000771
27 hypoplasia of the uterus 58 31 frequent (33%) Frequent (79-30%) HP:0000013
28 hypoplasia of the ovary 58 31 frequent (33%) Frequent (79-30%) HP:0008724
29 abnormality of body height 58 31 frequent (33%) Frequent (79-30%) HP:0000002
30 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
31 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
32 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
33 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
34 congenital sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0008527
35 camptodactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0012385
36 generalized joint laxity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002761
37 azoospermia 58 Very frequent (99-80%)
38 low gonadotropins (secondary hypogonadism) 58 Very frequent (99-80%)
39 decreased testosterone in males 58 Very frequent (99-80%)
40 phenotypic abnormality 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Normosmic Congenital Hypogonadotropic Hypogonadism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.31 BBIP1 CHD7 DUSP6 FGF8 FGFR1 GNRH1
2 behavior/neurological MP:0005386 10.26 BBIP1 CHD7 FGF17 FGF8 FGFR1 KISS1R
3 endocrine/exocrine gland MP:0005379 10.25 CHD7 FGF8 FGFR1 GNRH1 GNRHR HS6ST1
4 homeostasis/metabolism MP:0005376 10.24 CHD7 DUSP6 FGF8 FGFR1 GNRH1 GNRHR
5 digestive/alimentary MP:0005381 10.16 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
6 mortality/aging MP:0010768 10.13 BBIP1 CHD7 DUSP6 FGF8 FGFR1 HS6ST1
7 nervous system MP:0003631 10.07 BBIP1 CHD7 FGF17 FGF8 FGFR1 GNRH1
8 reproductive system MP:0005389 9.77 BBIP1 CHD7 FGF8 FGFR1 GNRH1 GNRHR
9 renal/urinary system MP:0005367 9.7 FGF8 FGFR1 GNRH1 GNRHR KISS1 KISS1R
10 skeleton MP:0005390 9.32 CHD7 DUSP6 FGF8 FGFR1 GNRH1 HS6ST1
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Drugs & Therapeutics for Normosmic Congenital Hypogonadotropic Hypogonadism

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Search Clinical Trials , NIH Clinical Center for Normosmic Congenital Hypogonadotropic Hypogonadism

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Genetic Tests for Normosmic Congenital Hypogonadotropic Hypogonadism

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Anatomical Context for Normosmic Congenital Hypogonadotropic Hypogonadism

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MalaCards organs/tissues related to Normosmic Congenital Hypogonadotropic Hypogonadism:

40
Pituitary, Breast, Ovary, Uterus
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Publications for Normosmic Congenital Hypogonadotropic Hypogonadism

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Articles related to Normosmic Congenital Hypogonadotropic Hypogonadism:

(show top 50) (show all 76)
# Title Authors PMID Year
1
When genetic load does not correlate with phenotypic spectrum: lessons from the GnRH receptor (GNRHR). 6
22745237 2012
2
Inactivating KISS1 mutation and hypogonadotropic hypogonadism. 6
22335740 2012
3
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. 6
20332248 2010
4
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. 6
19535795 2009
5
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 6
17235395 2007
6
A homozygous R262Q mutation in the gonadotropin-releasing hormone receptor presenting as constitutional delay of growth and puberty with subsequent borderline oligospermia. 6
16968799 2006
7
GNRHR mutations in a woman with idiopathic hypogonadotropic hypogonadism highlight the differential sensitivity of luteinizing hormone and follicle-stimulating hormone to gonadotropin-releasing hormone. 6
15240592 2004
8
Mutation Ala(171)Thr stabilizes the gonadotropin-releasing hormone receptor in its inactive conformation, causing familial hypogonadotropic hypogonadism. 6
12679486 2003
9
Novel homozygous splice acceptor site GnRH receptor (GnRHR) mutation: human GnRHR "knockout". 6
12050282 2002
10
Molecular basis of hypogonadotropic hypogonadism: restoration of mutant (E(90)K) GnRH receptor function by a deletion at a distant site. 6
11994356 2002
11
Two novel mutations in the gonadotropin-releasing hormone receptor gene in Brazilian patients with hypogonadotropic hypogonadism and normal olfaction. 6
11397871 2001
12
The fertile eunuch variant of idiopathic hypogonadotropic hypogonadism: spontaneous reversal associated with a homozygous mutation in the gonadotropin-releasing hormone receptor. 6
11397842 2001
13
A novel homozygous mutation in the second transmembrane domain of the gonadotrophin releasing hormone receptor gene. 6
11318785 2001
14
A new compound heterozygous mutation of the gonadotropin-releasing hormone receptor (L314X, Q106R) in a woman with complete hypogonadotropic hypogonadism: chronic estrogen administration amplifies the gonadotropin defect. 6
10999776 2000
15
Successful use of pulsatile gonadotropin-releasing hormone (GnRH) for ovulation induction and pregnancy in a patient with GnRH receptor mutations. 6
10690855 2000
16
Complete hypogonadotropic hypogonadism associated with a novel inactivating mutation of the gonadotropin-releasing hormone receptor. 6
10523035 1999
17
Resistance of hypogonadic patients with mutated GnRH receptor genes to pulsatile GnRH administration. 6
10084584 1999
18
The same molecular defects of the gonadotropin-releasing hormone receptor determine a variable degree of hypogonadism in affected kindred. 6
10022417 1999
19
Mutations in gonadotropin-releasing hormone receptor gene cause hypogonadotropic hypogonadism. 6
9425890 1998
20
A family with hypogonadotropic hypogonadism and mutations in the gonadotropin-releasing hormone receptor. 6
9371856 1997
21
Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants. 61
33442024 2021
22
Hypogonadotropic hypogonadism due to compound heterozygous mutations TACR3 in siblings. 61
33363893 2020
23
The wonderful and masterful G protein-coupled receptor (GPCR): A focus on signaling mechanisms and the neuroendocrine control of fertility. 61
32574585 2020
24
Dizygotic twin sisters with normosmic idiopathic hypogonadotropic hypogonadism caused by an FGFR1 gene variant. 61
32871658 2020
25
Homozygous p.R31H GNRH1 mutation and normosmic congenital hypogonadotropic hypogonadism in a patient and self-limited delayed puberty in his relatives. 61
32813678 2020
26
Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotropin-Releasing Hormone Deficiency. 61
32485746 2020
27
Hypogonadotropic hypogonadism due to variants in RAB3GAP2: expanding the phenotypic and genotypic spectrum of Martsolf syndrome. 61
32376645 2020
28
Identification of KISS1R gene mutations in disorders of non-obstructive azoospermia in the northeast population of China. 61
31821609 2020
29
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel GNRH1 variant in two siblings. 61
32134721 2020
30
A single-nucleotide polymorphism induced alternative splicing in Tacr3 involves in hypoxic-ischemic brain damage. 61
31722250 2020
31
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. 61
30216942 2019
32
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism. 61
31073722 2019
33
The clinical and psychological profiles of patients with hypogonadism, followed in 3 reference hospitals of Cameroon: an observational study. 61
31448010 2019
34
An Isolated Hypogonadotropic Hypogonadism due to a L102P Inactivating Mutation of KISS1R/GPR54 in a Large Family. 61
31885997 2019
35
Genetics of ncHH: from a peculiar inheritance of a novel GNRHR mutation to a comprehensive review of the literature. 61
30575316 2019
36
Complete Kisspeptin Receptor Inactivation Does Not Impede Exogenous GnRH-Induced LH Surge in Humans. 61
30124894 2018
37
Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism. 61
29108899 2018
38
The mystery of puberty initiation: genetics and epigenetics of idiopathic central precocious puberty (ICPP). 61
28251550 2017
39
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. 61
28611058 2017
40
Clinical characteristics and follow-up of 5 young Chinese males with gonadotropin-releasing hormone deficiency caused by mutations in the KAL1 gene. 61
26862482 2016
41
Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide. 61
26595427 2016
42
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. 61
26277103 2015
43
Pulsatile GnRH Is Superior to hCG in Therapeutic Efficacy in Adolescent Boys With Hypogonadotropic Hypogonadodism. 61
25978110 2015
44
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. 61
25262569 2015
45
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. 61
25883924 2015
46
Sex steroids, precursors, and metabolite deficiencies in men with isolated hypogonadotropic hypogonadism and panhypopituitarism: a GCMS-based comparative study. 61
25393641 2015
47
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism. 61
25531638 2015
48
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1. 61
25501157 2014
49
Functional consequences of AXL sequence variants in hypogonadotropic hypogonadism. 61
24476074 2014
50
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation. 61
23349759 2013
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Variations for Normosmic Congenital Hypogonadotropic Hypogonadism

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ClinVar genetic disease variations for Normosmic Congenital Hypogonadotropic Hypogonadism:

6 (show top 50) (show all 164)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GNRH1 NM_001083111.2(GNRH1):c.18dup (p.Leu7fs) Duplication Pathogenic 14417 rs587777758 8:25280828-25280829 8:25423312-25423313
2 GNRHR NM_000406.3(GNRHR):c.851A>G (p.Tyr284Cys) SNV Pathogenic 16025 rs28933074 4:68606334-68606334 4:67740616-67740616
3 GNRHR NM_000406.3(GNRHR):c.386C>A (p.Ala129Asp) SNV Pathogenic 16026 rs104893838 4:68619668-68619668 4:67753950-67753950
4 GNRHR NM_000406.3(GNRHR):c.651C>A (p.Ser217Arg) SNV Pathogenic 16027 rs104893839 4:68610377-68610377 4:67744659-67744659
5 GNRHR NM_000406.3(GNRHR):c.504T>A (p.Ser168Arg) SNV Pathogenic 16028 rs104893840 4:68619550-68619550 4:67753832-67753832
6 GNRHR NM_000406.3(GNRHR):c.941T>A (p.Leu314Ter) SNV Pathogenic 16029 rs104893841 4:68606244-68606244 4:67740526-67740526
7 GNRHR NM_000406.3(GNRHR):c.416G>A (p.Arg139His) SNV Pathogenic 16030 rs104893842 4:68619638-68619638 4:67753920-67753920
8 GNRHR NM_000406.3(GNRHR):c.30T>A (p.Asn10Lys) SNV Pathogenic 16031 rs104893843 4:68620024-68620024 4:67754306-67754306
9 GNRHR NM_000406.3(GNRHR):c.268G>A (p.Glu90Lys) SNV Pathogenic 16032 rs104893844 4:68619786-68619786 4:67754068-67754068
10 GNRHR NM_000406.3(GNRHR):c.523-1G>A SNV Pathogenic 16033 rs797044452 4:68610506-68610506 4:67744788-67744788
11 GNRHR NM_000406.3(GNRHR):c.511G>A (p.Ala171Thr) SNV Pathogenic 16034 rs74452732 4:68619543-68619543 4:67753825-67753825
12 GNRHR NM_001012763.1(GNRHR):c.30_31delinsAA (p.Asn10_Gln11delinsLysLys) Indel Pathogenic 189195 4:68620023-68620024 4:67754305-67754306
13 GNRHR NM_000406.3(GNRHR):c.959C>T (p.Pro320Leu) SNV Pathogenic 16036 rs104893847 4:68606226-68606226 4:67740508-67740508
14 KISS1 NM_002256.4(KISS1):c.339C>G (p.Asn113Lys) SNV Pathogenic 30349 rs587777835 1:204159690-204159690 1:204190562-204190562
15 TAC3 NM_013251.4(TAC3):c.61del (p.Ala21fs) Deletion Pathogenic 66083 rs398122393 12:57409521-57409521 12:57015737-57015737
16 GNRHR NM_000406.3(GNRHR):c.842C>T (p.Thr281Ile) SNV Pathogenic 126540 rs515726220 4:68606343-68606343 4:67740625-67740625
17 GNRHR NM_000406.3(GNRHR):c.94A>G (p.Thr32Ala) SNV Pathogenic 126541 rs515726219 4:68619960-68619960 4:67754242-67754242
18 GNRHR NM_000406.3(GNRHR):c.392T>C (p.Met131Thr) SNV Pathogenic 140610 rs606231406 4:68619662-68619662 4:67753944-67753944
19 GNRHR NM_000406.3(GNRHR):c.806C>T (p.Thr269Met) SNV Pathogenic 140611 rs369176613 4:68606379-68606379 4:67740661-67740661
20 GNRHR NM_000406.3(GNRHR):c.350T>G (p.Leu117Arg) SNV Pathogenic 180147 rs727505367 4:68619704-68619704 4:67753986-67753986
21 POLR3B NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) SNV Pathogenic 31166 rs138249161 12:106826199-106826199 12:106432421-106432421
22 BBIP1 NM_001195307.1(BBIP1):c.38-1015C>T SNV Pathogenic 626905 rs1590746439 10:112661299-112661299 10:110901541-110901541
23 GNRHR NM_000406.3(GNRHR):c.785G>A (p.Arg262Gln) SNV Pathogenic 16024 rs104893837 4:68606400-68606400 4:67740682-67740682
24 GNRHR NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) SNV Pathogenic/Likely pathogenic 16023 rs104893836 4:68619737-68619737 4:67754019-67754019
25 PNPLA6 NM_001166114.2(PNPLA6):c.4045C>T (p.Arg1349Trp) SNV Likely pathogenic 374055 rs374434303 19:7626395-7626395 19:7561509-7561509
26 PNPLA6 NM_001166114.2(PNPLA6):c.898C>G (p.Pro300Ala) SNV Likely pathogenic 374157 rs1057518936 19:7605911-7605911 19:7541025-7541025
27 POLR3B NM_018082.6(POLR3B):c.1263+2T>C SNV Likely pathogenic 488794 rs774526181 12:106821138-106821138 12:106427360-106427360
28 FGFR1 NM_023110.2(FGFR1):c.821A>G (p.Glu274Gly) SNV Likely pathogenic 180152 rs727505369 8:38282142-38282142 8:38424624-38424624
29 FGFR1 NM_023110.2(FGFR1):c.1864C>T (p.Arg622Ter) SNV Likely pathogenic 16282 rs121909628 8:38272410-38272410 8:38414892-38414892
30 FGFR1 NM_023110.2(FGFR1):c.1916T>C (p.Ile639Thr) SNV Likely pathogenic 180153 rs727505370 8:38272358-38272358 8:38414840-38414840
31 FGFR1 NM_015850.4(FGFR1):c.1029_1030CT[1] (p.Ser344fs) Microsatellite Likely pathogenic 180154 rs727505371 8:38279358-38279359 8:38421840-38421841
32 TAC3 NM_013251.4(TAC3):c.238C>A (p.Arg80Ser) SNV Likely pathogenic 180155 rs727505372 12:57407143-57407143 12:57013359-57013359
33 FGFR1 NM_023110.2(FGFR1):c.296A>G (p.Tyr99Cys) SNV Likely pathogenic 180156 rs727505373 8:38287262-38287262 8:38429744-38429744
34 ANOS1 NM_000216.4(ANOS1):c.1369C>T (p.Arg457Ter) SNV Likely pathogenic 180157 rs727505374 X:8507785-8507785 X:8539744-8539744
35 PROKR2 NM_144773.3(PROKR2):c.563C>T (p.Ser188Leu) SNV Likely pathogenic 180158 rs376239580 20:5283278-5283278 20:5302632-5302632
36 TACR3 NM_001059.3(TACR3):c.623G>A (p.Trp208Ter) SNV Likely pathogenic 180159 rs727505375 4:104579486-104579486 4:103658329-103658329
37 FGFR1 NM_023110.2(FGFR1):c.2059G>A (p.Gly687Arg) SNV Likely pathogenic 180160 rs727505376 8:38271797-38271797 8:38414279-38414279
38 FGFR1 NM_023110.2(FGFR1):c.2209T>C (p.Trp737Arg) SNV Likely pathogenic 180162 rs727505377 8:38271519-38271519 8:38414001-38414001
39 FGFR1 NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) SNV Likely pathogenic 16299 rs121909641 8:38277238-38277238 8:38419720-38419720
40 RNF216 NM_207111.4(RNF216):c.2061G>A (p.Lys687=) SNV Likely pathogenic 183356 rs730882248 7:5751392-5751392 7:5711761-5711761
41 GNRHR NM_000406.3(GNRHR):c.416G>A (p.Arg139His) SNV Likely pathogenic 16030 rs104893842 4:68619638-68619638 4:67753920-67753920
42 HS6ST1 NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) SNV Conflicting interpretations of pathogenicity 180161 rs199538589 2:129025828-129025828 2:128268254-128268254
43 GNRHR NM_000406.2(GNRHR):c.-1239T>A SNV Uncertain significance 349476 rs879487074 4:68621292-68621292 4:67755574-67755574
44 GNRHR NM_000406.3(GNRHR):c.*1193C>T SNV Uncertain significance 349438 rs886059561 4:68605005-68605005 4:67739287-67739287
45 GNRHR NM_000406.3(GNRHR):c.*1654C>T SNV Uncertain significance 349432 rs184206874 4:68604544-68604544 4:67738826-67738826
46 GNRHR NM_000406.3(GNRHR):c.*2919A>G SNV Uncertain significance 349418 rs149178613 4:68603279-68603279 4:67737561-67737561
47 GNRHR NM_000406.2(GNRHR):c.-107C>T SNV Uncertain significance 349459 rs184491810 4:68620160-68620160 4:67754442-67754442
48 GNRHR NM_000406.3(GNRHR):c.*832T>C SNV Uncertain significance 349441 rs886059563 4:68605366-68605366 4:67739648-67739648
49 GNRHR NM_000406.3(GNRHR):c.*2165A>G SNV Uncertain significance 349424 rs886059555 4:68604033-68604033 4:67738315-67738315
50 GNRHR NM_000406.2(GNRHR):c.-721A>G SNV Uncertain significance 349465 rs886059571 4:68620774-68620774 4:67755056-67755056
Sources

Expression for Normosmic Congenital Hypogonadotropic Hypogonadism

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Search GEO for disease gene expression data for Normosmic Congenital Hypogonadotropic Hypogonadism.
Sources

Pathways for Normosmic Congenital Hypogonadotropic Hypogonadism

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Pathways related to Normosmic Congenital Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Peptide ligand-binding receptors 65
Show member pathways
 13.21 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
2
Signaling by GPCR 65
Show member pathways
 13.13 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
3
Negative regulation of FGFR1 signaling 65
Show member pathways
 12.28 FGFR1 FGF8 FGF17 ANOS1
4
Immune response IFN alpha/beta signaling pathway 23
Show member pathways
 11.99 GNRH1 FGFR1 FGF8 FGF17
5
Calcium signaling pathway 36
11.94 TACR3 FGFR1 FGF8 FGF17
6
Signaling by FGFR2 65
Show member pathways
 11.54 FGFR1 FGF8 FGF17 ANOS1
7
FGFR1 mutant receptor activation 65
Show member pathways
 11.5 FGFR1 FGF8 FGF17
8
G-protein signaling_RhoA regulation pathway 23
11.42 GNRH1 FGFR1 FGF8 FGF17
9
GnRH secretion 36
11.14 KISS1R KISS1 GNRH1
10
Hormone ligand-binding receptors 65
10.52 GNRHR GNRH1
Sources

GO Terms for Normosmic Congenital Hypogonadotropic Hypogonadism

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Biological processes related to Normosmic Congenital Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.93 SPRY4 GNRHR GNRH1 FGFR1 FGF8 FGF17
2 G protein-coupled receptor signaling pathway GO:0007186 9.76 TACR3 TAC3 PROKR2 PROK2 KISS1R KISS1
3 MAPK cascade GO:0000165 9.62 FGFR1 FGF8 FGF17 DUSP6
4 response to organic cyclic compound GO:0014070 9.58 GNRH1 FGF8 DUSP6
5 positive regulation of blood pressure GO:0045777 9.43 TACR3 TAC3
6 aorta morphogenesis GO:0035909 9.37 FGF8 CHD7
7 tachykinin receptor signaling pathway GO:0007217 9.26 TACR3 TAC3
8 neuropeptide signaling pathway GO:0007218 9.26 TAC3 PROKR2 PROK2 KISS1R
9 fibroblast growth factor receptor signaling pathway GO:0008543 8.92 FGFR1 FGF8 FGF17 ANOS1

Molecular functions related to Normosmic Congenital Hypogonadotropic Hypogonadism according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 fibroblast growth factor receptor binding GO:0005104 9.16 FGF8 FGF17
2 type 1 fibroblast growth factor receptor binding GO:0005105 8.96 FGF8 FGF17
3 type 2 fibroblast growth factor receptor binding GO:0005111 8.62 FGF8 FGF17
Sources

Sources for Normosmic Congenital Hypogonadotropic Hypogonadism

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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