MCID: NRM018
MIFTS: 43

Normosmic Congenital Hypogonadotropic Hypogonadism

Categories: Reproductive diseases, Endocrine diseases, Rare diseases

Aliases & Classifications for Normosmic Congenital Hypogonadotropic Hypogonadism

MalaCards integrated aliases for Normosmic Congenital Hypogonadotropic Hypogonadism:

Name: Normosmic Congenital Hypogonadotropic Hypogonadism 59
Normosmic Idiopathic Hypogonadotropic Hypogonadism 59
Isolated Congenital Gonadotropin Deficiency 59
Gonadotropic Deficiency 59
Nihh 59

Characteristics:

Orphanet epidemiological data:

59
normosmic congenital hypogonadotropic hypogonadism
Inheritance: Autosomal dominant,Autosomal recessive,Multigenic/multifactorial,X-linked recessive; Age of onset: Infancy,Neonatal;

Classifications:



Summaries for Normosmic Congenital Hypogonadotropic Hypogonadism

MalaCards based summary : Normosmic Congenital Hypogonadotropic Hypogonadism, also known as normosmic idiopathic hypogonadotropic hypogonadism, is related to hypogonadotropic hypogonadism 7 with or without anosmia and hypogonadotropism. An important gene associated with Normosmic Congenital Hypogonadotropic Hypogonadism is GNRHR (Gonadotropin Releasing Hormone Receptor), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. Affiliated tissues include uterus and ovary, and related phenotypes are abnormality of body height and hypoplasia of the uterus

Related Diseases for Normosmic Congenital Hypogonadotropic Hypogonadism

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

(show all 42)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 30.7 DUSP6 FGF17 GNRH1 GNRHR SPRY4 WDR11
2 hypogonadotropism 30.5 GNRH1 GNRHR KISS1 KISS1R
3 anosmia 27.7 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
4 hypogonadotropic hypogonadism 22.0 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
5 hypogonadism 21.5 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
6 hypogonadotropic hypogonadism 9 with or without anosmia 11.4
7 hypogonadotropic hypogonadism 10 with or without anosmia 11.4
8 hypogonadotropic hypogonadism 11 with or without anosmia 11.4
9 hypogonadotropic hypogonadism 12 with or without anosmia 11.4
10 hypogonadotropic hypogonadism 13 with or without anosmia 11.4
11 hypogonadotropic hypogonadism 14 with or without anosmia 11.4
12 hypogonadotropic hypogonadism 15 with or without anosmia 11.4
13 hypogonadotropic hypogonadism 16 with or without anosmia 11.4
14 hypogonadotropic hypogonadism 2 with or without anosmia 11.4
15 hypogonadotropic hypogonadism 17 with or without anosmia 11.4
16 hypogonadotropic hypogonadism 3 with or without anosmia 11.4
17 hypogonadotropic hypogonadism 18 with or without anosmia 11.4
18 hypogonadotropic hypogonadism 19 with or without anosmia 11.4
19 hypogonadotropic hypogonadism 1 with or without anosmia 11.4
20 hypogonadotropic hypogonadism 20 with or without anosmia 11.4
21 hypogonadotropic hypogonadism 4 with or without anosmia 11.4
22 hypogonadotropic hypogonadism 21 with or without anosmia 11.4
23 hypogonadotropic hypogonadism 5 with or without anosmia 11.4
24 hypogonadotropic hypogonadism 22 with or without anosmia 11.4
25 hypogonadotropic hypogonadism 6 with or without anosmia 11.4
26 hypogonadotropic hypogonadism 8 with or without anosmia 11.4
27 retinitis pigmentosa 67 10.5 TAC3 TACR3
28 hypogonadotropic hypogonadism 23 without anosmia 10.3 GNRH1 GNRHR
29 idiopathic central precocious puberty 10.1 KISS1 KISS1R TAC3 TACR3
30 central precocious puberty 10.0 GNRH1 KISS1 KISS1R
31 precocious puberty 10.0 GNRH1 KISS1 KISS1R
32 hypothalamic hamartomas 9.8 GNRH1 GNRHR KISS1 KISS1R
33 anosmia, isolated congenital 9.8
34 hartsfield syndrome 9.4 FGF8 FGFR1
35 lobar holoprosencephaly 9.3 FGF8 FGFR1
36 microform holoprosencephaly 9.2 FGF8 FGFR1
37 semilobar holoprosencephaly 9.1 FGF8 FGFR1
38 thanatophoric dysplasia, type i 8.9 FGF8 FGFR1
39 gonadal disease 8.7 ANOS1 GNRH1 GNRHR KISS1 KISS1R PROK2
40 cryptorchidism, unilateral or bilateral 7.7 ANOS1 CHD7 FGFR1 GNRH1 GNRHR PROK2
41 charge syndrome 7.6 ANOS1 CHD7 FGF8 FGFR1 GNRHR PROK2
42 kallmann syndrome 3.5 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1

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



Diseases related to Normosmic Congenital Hypogonadotropic Hypogonadism

Symptoms & Phenotypes for Normosmic Congenital Hypogonadotropic Hypogonadism

Human phenotypes related to Normosmic Congenital Hypogonadotropic Hypogonadism:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of body height 59 32 frequent (33%) Frequent (79-30%) HP:0000002
2 hypoplasia of the uterus 59 32 frequent (33%) Frequent (79-30%) HP:0000013
3 male hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000026
4 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
5 micropenis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000054
6 female hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000134
7 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
8 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
9 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
10 depressivity 59 32 frequent (33%) Frequent (79-30%) HP:0000716
11 anxiety 59 32 frequent (33%) Frequent (79-30%) HP:0000739
12 gynecomastia 59 32 frequent (33%) Frequent (79-30%) HP:0000771
13 wide intermamillary distance 59 32 hallmark (90%) Very frequent (99-80%) HP:0006610
14 primary amenorrhea 59 32 hallmark (90%) Very frequent (99-80%) HP:0000786
15 impotence 59 32 hallmark (90%) Very frequent (99-80%) HP:0000802
16 delayed puberty 59 32 frequent (33%) Frequent (79-30%) HP:0000823
17 secondary amenorrhea 59 32 frequent (33%) Frequent (79-30%) HP:0000869
18 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
19 osteopenia 59 32 frequent (33%) Frequent (79-30%) HP:0000938
20 osteoporosis 59 32 frequent (33%) Frequent (79-30%) HP:0000939
21 abnormality of the voice 59 32 hallmark (90%) Very frequent (99-80%) HP:0001608
22 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
23 generalized joint laxity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002761
24 breast hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003187
25 eunuchoid habitus 59 32 hallmark (90%) Very frequent (99-80%) HP:0003782
26 depressed nasal bridge 59 32 occasional (7.5%) Occasional (29-5%) HP:0005280
27 absence of secondary sex characteristics 59 32 hallmark (90%) Very frequent (99-80%) HP:0008187
28 absence of pubertal development 59 32 hallmark (90%) Very frequent (99-80%) HP:0008197
29 decreased testosterone in males 59 32 hallmark (90%) Very frequent (99-80%) HP:0008230
30 congenital sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0008527
31 hypoplasia of the ovary 59 32 frequent (33%) Frequent (79-30%) HP:0008724
32 decreased testicular size 59 32 hallmark (90%) Very frequent (99-80%) HP:0008734
33 non-obstructive azoospermia 59 32 hallmark (90%) Very frequent (99-80%) HP:0011961
34 camptodactyly 59 32 occasional (7.5%) Occasional (29-5%) HP:0012385
35 increased female libido 59 32 hallmark (90%) Very frequent (99-80%) HP:0030019
36 azoospermia 59 Very frequent (99-80%)
37 phenotypic abnormality 59 Very frequent (99-80%)
38 low gonadotropins (secondary hypogonadism) 59 Very frequent (99-80%)
39 decreased serum testosterone level 59 Very frequent (99-80%)
40 hypogonadotrophic hypogonadism 32 hallmark (90%) HP:0000044

MGI Mouse Phenotypes related to Normosmic Congenital Hypogonadotropic Hypogonadism:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.18 CHD7 FGF8 FGFR1 GNRH1 GNRHR HS6ST1
2 growth/size/body region MP:0005378 10.18 DUSP6 FGF8 FGFR1 GNRH1 GNRHR HS6ST1
3 homeostasis/metabolism MP:0005376 10.1 DUSP6 FGF8 FGFR1 GNRH1 GNRHR HS6ST1
4 digestive/alimentary MP:0005381 10.03 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
5 nervous system MP:0003631 10 PROK2 PROKR2 SPRY4 CHD7 FGF17 FGF8
6 reproductive system MP:0005389 9.7 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
7 renal/urinary system MP:0005367 9.63 KISS1 KISS1R FGF8 FGFR1 GNRH1 GNRHR
8 skeleton MP:0005390 9.23 CHD7 DUSP6 FGF8 FGFR1 GNRH1 HS6ST1

Drugs & Therapeutics for Normosmic Congenital Hypogonadotropic Hypogonadism

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

Genetic Tests for Normosmic Congenital Hypogonadotropic Hypogonadism

Anatomical Context for Normosmic Congenital Hypogonadotropic Hypogonadism

MalaCards organs/tissues related to Normosmic Congenital Hypogonadotropic Hypogonadism:

41
Uterus, Ovary

Publications for Normosmic Congenital Hypogonadotropic Hypogonadism

Articles related to Normosmic Congenital Hypogonadotropic Hypogonadism:

(show all 14)
# Title Authors Year
1
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. ( 28611058 )
2017
2
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism. ( 25531638 )
2015
3
Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families. ( 25262569 )
2015
4
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
5
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
6
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. ( 23640935 )
2013
7
Two families with normosmic congenital hypogonadotropic hypogonadism and biallelic mutations in KISS1R (KISS1 receptor): clinical evaluation and molecular characterization of a novel mutation. ( 23349759 )
2013
8
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. ( 23230250 )
2012
9
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. ( 22766261 )
2012
10
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. ( 22031817 )
2011
11
Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China. ( 19734936 )
2009
12
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. ( 19820032 )
2009
13
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. ( 17959774 )
2007
14
Mutations in fibroblast growth factor receptor 1 cause both Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. ( 16606836 )
2006

Variations for Normosmic Congenital Hypogonadotropic Hypogonadism

Expression for Normosmic Congenital Hypogonadotropic Hypogonadism

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

Pathways for Normosmic Congenital Hypogonadotropic Hypogonadism

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 ANOS1 DUSP6 FGF17 FGF8 FGFR1 GNRH1
2
Show member pathways
13.03 GNRH1 GNRHR KISS1 KISS1R PROK2 PROKR2
3
Show member pathways
12.38 FGF17 FGF8 FGFR1 GNRH1
4
Show member pathways
12.18 ANOS1 FGF17 FGF8 FGFR1
5
Show member pathways
11.81 FGF17 FGF8 FGFR1
6
Show member pathways
11.72 FGF17 FGF8 FGFR1 GNRH1
7
Show member pathways
11.54 ANOS1 FGF17 FGF8 FGFR1
8
Show member pathways
11.39 FGF17 FGF8 FGFR1
9 10.44 GNRH1 GNRHR

GO Terms for Normosmic Congenital Hypogonadotropic Hypogonadism

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

# Name GO ID Score Top Affiliating Genes
1 extracellular region GO:0005576 9.23 ANOS1 FGF17 FGF8 FGFR1 GNRH1 KISS1

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

(show all 16)
# Name GO ID Score Top Affiliating Genes
1 MAPK cascade GO:0000165 9.76 DUSP6 FGF17 FGF8 FGFR1
2 positive regulation of protein kinase B signaling GO:0051897 9.72 FGF17 FGF8 FGFR1
3 response to organic cyclic compound GO:0014070 9.7 DUSP6 FGF8 GNRH1
4 phosphatidylinositol phosphorylation GO:0046854 9.69 FGF17 FGF8 FGFR1
5 embryonic hindlimb morphogenesis GO:0035116 9.56 CHD7 FGF8
6 G-protein coupled receptor signaling pathway GO:0007186 9.56 GNRH1 GNRHR KISS1 KISS1R PROK2 PROKR2
7 inner ear morphogenesis GO:0042472 9.5 CHD7 FGF8 FGFR1
8 generation of neurons GO:0048699 9.49 FGF8 FGFR1
9 aorta morphogenesis GO:0035909 9.48 CHD7 FGF8
10 neuropeptide signaling pathway GO:0007218 9.46 KISS1R PROK2 PROKR2 TAC3
11 organ induction GO:0001759 9.43 FGF8 FGFR1
12 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGF17 FGF8 FGFR1
13 branching involved in salivary gland morphogenesis GO:0060445 9.4 FGF8 FGFR1
14 tachykinin receptor signaling pathway GO:0007217 9.37 TAC3 TACR3
15 fibroblast growth factor receptor signaling pathway GO:0008543 8.92 ANOS1 FGF17 FGF8 FGFR1
16 multicellular organism development GO:0007275 10.01 FGF17 FGF8 FGFR1 GNRH1 GNRHR SPRY4

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

# Name GO ID Score Top Affiliating Genes
1 Ras guanyl-nucleotide exchange factor activity GO:0005088 9.33 FGF17 FGF8 FGFR1
2 fibroblast growth factor receptor binding GO:0005104 9.26 FGF17 FGF8
3 phosphatidylinositol-4,5-bisphosphate 3-kinase activity GO:0046934 9.13 FGF17 FGF8 FGFR1
4 1-phosphatidylinositol-3-kinase activity GO:0016303 8.8 FGF17 FGF8 FGFR1

Sources for Normosmic Congenital Hypogonadotropic Hypogonadism

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
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58 OMIM via Orphanet
62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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