NIHH
MCID: NRM018
MIFTS: 45

Normosmic Congenital Hypogonadotropic Hypogonadism (NIHH)

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 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 KISS1R (KISS1 Receptor), and among its related pathways/superpathways are Signaling by GPCR and Peptide ligand-binding receptors. Affiliated tissues include ovary, uterus and breast, and related phenotypes are hypertelorism and depressivity

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 43)
# Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 7 with or without anosmia 31.7 DUSP6 FGF17 FGFR1 GNRH1 GNRHR PROKR2
2 hypogonadotropism 30.7 GNRH1 GNRHR KISS1 KISS1R
3 anosmia 29.2 ANOS1 FGF17 FGFR1 PROKR2 SPRY4
4 hypogonadotropic hypogonadism 28.3 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
5 hypogonadism 28.3 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
6 kallmann syndrome 28.0 ANOS1 CHD7 DUSP6 FGF17 FGF8 FGFR1
7 hypogonadotropic hypogonadism 2 with or without anosmia 11.6
8 hypogonadotropic hypogonadism 3 with or without anosmia 11.6
9 hypogonadotropic hypogonadism 1 with or without anosmia 11.6
10 hypogonadotropic hypogonadism 4 with or without anosmia 11.6
11 hypogonadotropic hypogonadism 5 with or without anosmia 11.6
12 hypogonadotropic hypogonadism 6 with or without anosmia 11.6
13 hypogonadotropic hypogonadism 8 with or without anosmia 11.6
14 hypogonadotropic hypogonadism 9 with or without anosmia 11.6
15 hypogonadotropic hypogonadism 10 with or without anosmia 11.6
16 hypogonadotropic hypogonadism 11 with or without anosmia 11.6
17 hypogonadotropic hypogonadism 12 with or without anosmia 11.6
18 hypogonadotropic hypogonadism 13 with or without anosmia 11.6
19 hypogonadotropic hypogonadism 14 with or without anosmia 11.6
20 hypogonadotropic hypogonadism 15 with or without anosmia 11.6
21 hypogonadotropic hypogonadism 16 with or without anosmia 11.6
22 hypogonadotropic hypogonadism 17 with or without anosmia 11.6
23 hypogonadotropic hypogonadism 18 with or without anosmia 11.6
24 hypogonadotropic hypogonadism 19 with or without anosmia 11.6
25 hypogonadotropic hypogonadism 20 with or without anosmia 11.6
26 hypogonadotropic hypogonadism 21 with or without anosmia 11.6
27 hypogonadotropic hypogonadism 22 with or without anosmia 11.6
28 isolated gonadotropin-releasing hormone deficiency 10.9
29 retinitis pigmentosa 67 10.2 TAC3 TACR3
30 hartsfield syndrome 10.2 FGF8 FGFR1
31 hypogonadotropic hypogonadism 23 without anosmia 10.1 GNRH1 GNRHR
32 lobar holoprosencephaly 10.1 FGF8 FGFR1
33 microform holoprosencephaly 10.1 FGF8 FGFR1
34 thanatophoric dysplasia, type i 10.1 FGF8 FGFR1
35 central precocious puberty 10.1 GNRH1 KISS1 KISS1R
36 precocious puberty 10.0 GNRH1 KISS1 KISS1R
37 idiopathic central precocious puberty 10.0 KISS1 KISS1R TAC3 TACR3
38 semilobar holoprosencephaly 10.0 FGF8 FGFR1
39 hypothalamic hamartomas 10.0 GNRH1 GNRHR KISS1 KISS1R
40 anosmia, isolated congenital 9.9
41 charge syndrome 9.5 ANOS1 CHD7 FGF8 FGFR1 PROK2 PROKR2
42 cryptorchidism, unilateral or bilateral 9.5 ANOS1 FGFR1 GNRH1 GNRHR PROK2 PROKR2
43 gonadal disease 9.5 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:

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

MGI Mouse Phenotypes related to Normosmic Congenital Hypogonadotropic Hypogonadism:

46 (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:

41
Ovary, Uterus, Breast, Pituitary

Publications for Normosmic Congenital Hypogonadotropic Hypogonadism

Articles related to Normosmic Congenital Hypogonadotropic Hypogonadism:

(show all 17)
# Title Authors Year
1
Targeted Gene Panel Sequencing for Molecular Diagnosis of Kallmann Syndrome and Normosmic Idiopathic Hypogonadotropic Hypogonadism. ( 30216942 )
2018
2
GNRHR biallelic and digenic mutations in patients with normosmic congenital hypogonadotropic hypogonadism. ( 28611058 )
2017
3
Triallelic digenic mutation in the prokineticin 2 and GNRH receptor genes in two brothers with normosmic congenital hypogonadotropic hypogonadism. ( 25531638 )
2015
4
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
5
Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience. ( 25883924 )
2015
6
Novel FGFR1 mutations in Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: evidence for the involvement of an alternatively spliced isoform. ( 26277103 )
2015
7
A female patient with normosmic idiopathic hypogonadotropic hypogonadism carrying a novel mutation in FGFR1. ( 25501157 )
2014
8
Normosmic idiopathic hypogonadotropic hypogonadism: update on the genetic background and future challenges. ( 23640935 )
2013
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
Familial normosmic idiopathic hypogonadotropic hypogonadism: is there a phenotypic marker for each genetic mutation? Report of three cases and review of literature. ( 23230250 )
2012
11
Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism. ( 22766261 )
2012
12
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. ( 22031817 )
2011
13
Molecular analysis of KAL-1 in a series of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism patients from Northwestern China. ( 19734936 )
2009
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
Loss-of-function mutation in the prokineticin 2 gene causes Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism. ( 17959774 )
2007
17
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 12)
# 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
12.42 FGF17 FGF8 FGFR1 GNRH1
4
Show member pathways
12.23 ANOS1 FGF17 FGF8 FGFR1
5
Show member pathways
11.94 FGF17 FGF8 FGFR1 GNRH1
6
Show member pathways
11.88 FGF17 FGF8 FGFR1
7
Show member pathways
11.77 FGF17 FGF8 FGFR1 GNRH1
8
Show member pathways
11.54 ANOS1 FGF17 FGF8 FGFR1
9
Show member pathways
11.39 FGF17 FGF8 FGFR1
10 11.36 FGF17 FGF8 FGFR1 GNRH1
11 10.8 FGF17 FGF8 FGFR1
12 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 15)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of protein kinase B signaling GO:0051897 9.72 FGF17 FGF8 FGFR1
2 MAPK cascade GO:0000165 9.71 DUSP6 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 G protein-coupled receptor signaling pathway GO:0007186 9.56 GNRH1 GNRHR KISS1 KISS1R PROK2 PROKR2
6 embryonic hindlimb morphogenesis GO:0035116 9.54 CHD7 FGF8
7 inner ear morphogenesis GO:0042472 9.5 CHD7 FGF8 FGFR1
8 aorta morphogenesis GO:0035909 9.49 CHD7 FGF8
9 generation of neurons GO:0048699 9.48 FGF8 FGFR1
10 branching involved in salivary gland morphogenesis GO:0060445 9.46 FGF8 FGFR1
11 neuropeptide signaling pathway GO:0007218 9.46 KISS1R PROK2 PROKR2 TAC3
12 organ induction GO:0001759 9.43 FGF8 FGFR1
13 phosphatidylinositol-3-phosphate biosynthetic process GO:0036092 9.43 FGF17 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

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

Sources for Normosmic Congenital Hypogonadotropic Hypogonadism

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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