MCID: NRM018
MIFTS: 43

Normosmic Congenital Hypogonadotropic Hypogonadism

Categories: Endocrine diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Normosmic Congenital Hypogonadotropic Hypogonadism

MalaCards integrated aliases for Normosmic Congenital Hypogonadotropic Hypogonadism:

Name: Normosmic Congenital Hypogonadotropic Hypogonadism 60
Normosmic Idiopathic Hypogonadotropic Hypogonadism 60
Isolated Congenital Gonadotropin Deficiency 60
Gonadotropic Deficiency 60
Nihh 60

Characteristics:

Orphanet epidemiological data:

60
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 KISS1R (KISS1 Receptor), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. Affiliated tissues include ovary and uterus, and related phenotypes are delayed skeletal maturation and cryptorchidism

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 31.3 DUSP6 FGF17 FGFR1 GNRH1 GNRHR SPRY4
2 hypogonadotropism 31.0 GNRH1 GNRHR KISS1 KISS1R
3 hypogonadotropic hypogonadism 26.9 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
4 hypogonadism 26.9 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
5 kallmann syndrome 26.3 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
6 hypogonadotropic hypogonadism 2 with or without anosmia 11.9
7 hypogonadotropic hypogonadism 4 with or without anosmia 11.9
8 hypogonadotropic hypogonadism 3 with or without anosmia 11.6
9 hypogonadotropic hypogonadism 1 with or without anosmia 11.6
10 hypogonadotropic hypogonadism 5 with or without anosmia 11.6
11 hypogonadotropic hypogonadism 6 with or without anosmia 11.6
12 hypogonadotropic hypogonadism 9 with or without anosmia 11.6
13 hypogonadotropic hypogonadism 10 with or without anosmia 11.6
14 hypogonadotropic hypogonadism 11 with or without anosmia 11.6
15 hypogonadotropic hypogonadism 12 with or without anosmia 11.6
16 hypogonadotropic hypogonadism 13 with or without anosmia 11.6
17 hypogonadotropic hypogonadism 14 with or without anosmia 11.6
18 hypogonadotropic hypogonadism 15 with or without anosmia 11.6
19 hypogonadotropic hypogonadism 16 with or without anosmia 11.6
20 hypogonadotropic hypogonadism 17 with or without anosmia 11.6
21 hypogonadotropic hypogonadism 18 with or without anosmia 11.6
22 hypogonadotropic hypogonadism 19 with or without anosmia 11.6
23 hypogonadotropic hypogonadism 20 with or without anosmia 11.6
24 hypogonadotropic hypogonadism 21 with or without anosmia 11.6
25 hypogonadotropic hypogonadism 22 with or without anosmia 11.6
26 isolated gonadotropin-releasing hormone deficiency 10.9
27 hypogonadotropic hypogonadism 8 with or without anosmia 10.3
28 retinitis pigmentosa 67 10.3 TAC3 TACR3
29 hartsfield syndrome 10.2 FGF8 FGFR1
30 hypogonadotropic hypogonadism 23 without anosmia 10.2 GNRH1 GNRHR
31 lobar holoprosencephaly 10.2 FGF8 FGFR1
32 microform holoprosencephaly 10.1 FGF8 FGFR1
33 thanatophoric dysplasia, type i 10.1 FGF8 FGFR1
34 central precocious puberty 10.1 GNRH1 KISS1 KISS1R
35 precocious puberty 10.1 GNRH1 KISS1 KISS1R
36 idiopathic central precocious puberty 10.0 KISS1 KISS1R TAC3 TACR3
37 semilobar holoprosencephaly 10.0 FGF8 FGFR1
38 hypothalamic hamartomas 10.0 GNRH1 GNRHR KISS1 KISS1R
39 anosmia, isolated congenital 9.9
40 charge syndrome 9.3 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
41 cryptorchidism, unilateral or bilateral 9.2 ANOS1 FGFR1 GNRH1 GNRHR PROK2 PROKR2
42 gonadal disease 9.2 ANOS1 GNRH1 GNRHR KISS1 KISS1R PROKR2

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:

60 33 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
3 wide intermamillary distance 60 33 hallmark (90%) Very frequent (99-80%) HP:0006610
4 primary amenorrhea 60 33 hallmark (90%) Very frequent (99-80%) HP:0000786
5 male hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000026
6 absence of secondary sex characteristics 60 33 hallmark (90%) Very frequent (99-80%) HP:0008187
7 decreased testicular size 60 33 hallmark (90%) Very frequent (99-80%) HP:0008734
8 decreased serum testosterone level 60 33 hallmark (90%) Very frequent (99-80%) HP:0040171
9 abnormality of the voice 60 33 hallmark (90%) Very frequent (99-80%) HP:0001608
10 sparse body hair 60 33 hallmark (90%) Very frequent (99-80%) HP:0002231
11 non-obstructive azoospermia 60 33 hallmark (90%) Very frequent (99-80%) HP:0011961
12 micropenis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000054
13 impotence 60 33 hallmark (90%) Very frequent (99-80%) HP:0000802
14 female hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000134
15 breast hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0003187
16 eunuchoid habitus 60 33 hallmark (90%) Very frequent (99-80%) HP:0003782
17 absence of pubertal development 60 33 hallmark (90%) Very frequent (99-80%) HP:0008197
18 increased female libido 60 33 hallmark (90%) Very frequent (99-80%) HP:0030019
19 hypogonadotrophic hypogonadism 33 hallmark (90%) HP:0000044
20 depressivity 60 33 frequent (33%) Frequent (79-30%) HP:0000716
21 osteopenia 60 33 frequent (33%) Frequent (79-30%) HP:0000938
22 delayed puberty 60 33 frequent (33%) Frequent (79-30%) HP:0000823
23 osteoporosis 60 33 frequent (33%) Frequent (79-30%) HP:0000939
24 anxiety 60 33 frequent (33%) Frequent (79-30%) HP:0000739
25 secondary amenorrhea 60 33 frequent (33%) Frequent (79-30%) HP:0000869
26 gynecomastia 60 33 frequent (33%) Frequent (79-30%) HP:0000771
27 hypoplasia of the uterus 60 33 frequent (33%) Frequent (79-30%) HP:0000013
28 hypoplasia of the ovary 60 33 frequent (33%) Frequent (79-30%) HP:0008724
29 abnormality of body height 60 33 frequent (33%) Frequent (79-30%) HP:0000002
30 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
31 depressed nasal bridge 60 33 occasional (7.5%) Occasional (29-5%) HP:0005280
32 abnormality of the dentition 60 33 occasional (7.5%) Occasional (29-5%) HP:0000164
33 cleft palate 60 33 occasional (7.5%) Occasional (29-5%) HP:0000175
34 congenital sensorineural hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0008527
35 camptodactyly 60 33 occasional (7.5%) Occasional (29-5%) HP:0012385
36 generalized joint laxity 60 33 occasional (7.5%) Occasional (29-5%) HP:0002761
37 azoospermia 60 Very frequent (99-80%)
38 decreased testosterone in males 60 Very frequent (99-80%)
39 phenotypic abnormality 60 Very frequent (99-80%)
40 low gonadotropins (secondary hypogonadism) 60 Very frequent (99-80%)

MGI Mouse Phenotypes related to Normosmic Congenital Hypogonadotropic Hypogonadism:

47 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 CHD7 DUSP6 FGF8 FGFR1 GNRH1 GNRHR
2 endocrine/exocrine gland MP:0005379 10.27 CHD7 FGF8 FGFR1 GNRH1 GNRHR HS6ST1
3 homeostasis/metabolism MP:0005376 10.18 CHD7 DUSP6 FGF8 FGFR1 GNRH1 GNRHR
4 digestive/alimentary MP:0005381 10.13 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
5 mortality/aging MP:0010768 10.06 CHD7 DUSP6 FGF8 FGFR1 HS6ST1 KISS1
6 nervous system MP:0003631 10.03 CHD7 FGF17 FGF8 FGFR1 GNRH1 KISS1
7 craniofacial MP:0005382 9.97 CHD7 DUSP6 FGF8 FGFR1 SPRY4 WDR11
8 limbs/digits/tail MP:0005371 9.85 CHD7 FGF8 FGFR1 HS6ST1 SPRY4 WDR11
9 reproductive system MP:0005389 9.73 CHD7 FGF8 FGFR1 GNRH1 GNRHR KISS1
10 renal/urinary system MP:0005367 9.7 FGF8 FGFR1 GNRH1 GNRHR KISS1 KISS1R
11 skeleton MP:0005390 9.28 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:

42
Ovary, Uterus

Publications for Normosmic Congenital Hypogonadotropic Hypogonadism

Articles related to Normosmic Congenital Hypogonadotropic Hypogonadism:

(show all 18)
# Title Authors Year
1
Nonstop mutation in the Kisspeptin 1 receptor (KISS1R) gene causes normosmic congenital hypogonadotropic hypogonadism. ( 31073722 )
2019
2
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30216942 )
2018
3
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. ( 28611058 )
2017
4
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
5
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
6
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism. ( 25531638 )
2015
7
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
8
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1. ( 25501157 )
2014
9
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
10
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. ( 23640935 )
2013
11
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. ( 22766261 )
2012
12
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. ( 23230250 )
2012
13
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. ( 22031817 )
2011
14
Impaired fibroblast growth factor receptor 1 signaling as a cause of normosmic idiopathic hypogonadotropic hypogonadism. ( 19820032 )
2009
15
Frequency of Impaired Fibroblast Growth Factor Receptor 1 Signaling as a Cause of Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 28199515 )
2009
16
Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China. ( 19734936 )
2009
17
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. ( 17959774 )
2007
18
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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.13 ANOS1 DUSP6 FGF17 FGF8 FGFR1 GNRH1
2
Show member pathways
13.04 GNRH1 GNRHR KISS1 KISS1R PROK2 PROKR2
3
Show member pathways
12.4 FGF17 FGF8 FGFR1 GNRH1
4
Show member pathways
11.91 FGF17 FGF8 FGFR1 GNRH1
5
Show member pathways
11.87 FGF17 FGF8 FGFR1
6
Show member pathways
11.75 FGF17 FGF8 FGFR1 GNRH1
7
Show member pathways
11.54 ANOS1 FGF17 FGF8 FGFR1
8
Show member pathways
11.39 FGF17 FGF8 FGFR1
9 11.36 FGF17 FGF8 FGFR1 GNRH1
10 10.78 FGF17 FGF8 FGFR1
11 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 13)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.7 FGF17 FGF8 FGFR1
2 response to organic cyclic compound GO:0014070 9.67 DUSP6 FGF8 GNRH1
3 MAPK cascade GO:0000165 9.67 DUSP6 FGF17 FGF8 FGFR1
4 G protein-coupled receptor signaling pathway GO:0007186 9.56 GNRH1 GNRHR KISS1 KISS1R PROK2 PROKR2
5 embryonic hindlimb morphogenesis GO:0035116 9.51 CHD7 FGF8
6 aorta morphogenesis GO:0035909 9.48 CHD7 FGF8
7 generation of neurons GO:0048699 9.46 FGF8 FGFR1
8 neuropeptide signaling pathway GO:0007218 9.46 KISS1R PROK2 PROKR2 TAC3
9 branching involved in salivary gland morphogenesis GO:0060445 9.43 FGF8 FGFR1
10 inner ear morphogenesis GO:0042472 9.43 CHD7 FGF8 FGFR1
11 organ induction GO:0001759 9.4 FGF8 FGFR1
12 tachykinin receptor signaling pathway GO:0007217 9.32 TAC3 TACR3
13 fibroblast growth factor receptor signaling pathway GO:0008543 8.92 ANOS1 FGF17 FGF8 FGFR1

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

# Name GO ID Score Top Affiliating Genes
1 protein tyrosine kinase activity GO:0004713 8.65 FGFR1
2 fibroblast growth factor receptor binding GO:0005104 8.62 FGF17 FGF8

Sources for Normosmic Congenital Hypogonadotropic Hypogonadism

3 CDC
7 CNVD
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10 dbSNP
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59 OMIM via Orphanet
63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
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75 UMLS via Orphanet
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