HH12
MCID: HYP547
MIFTS: 34

Hypogonadotropic Hypogonadism 12 with or Without Anosmia (HH12)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 12 with or Without Anosmia 56 12 73 29 13 6 71
Eunuchoidism, Familial Hypogonadotropic 56 73 71
Figd 56 52 73
Gonadotropin Deficiency, Familial Idiopathic 56 73
Hh12 56 73
Hypogonadism, Hypogonadotropic, Type 12 with/without Anosmia 39
Gonadotropin Deficiency, Familial Idiopathic; Figd 56
Gonadotropin Deficiency Familial Idiopathic 52
Familial Idiopathic Gonadotrpin Deficiency 12
Familial Hypogonadotrophic Eunuchoidism 12
Eunuchoidism Familial Hypogonadotropic 52
Familial Hypogonadotropic Eunuchoidism 52

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 family (last curated october 2014)


HPO:

31
hypogonadotropic hypogonadism 12 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090072
OMIM 56 614841
OMIM Phenotypic Series 56 PS147950
MeSH 43 D007006
ICD10 32 E23.0
UMLS 71 C1856897 C3553845

Summaries for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

OMIM : 56 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is 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. Idiopathic hypogonadotropic hypogonadism can be caused by an isolated defect in gonadotropin-releasing hormone (GNRH; 152760) release, action, or both. Other associated nonreproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss, occur with variable frequency. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism has been called 'Kallmann syndrome (KS),' whereas in the presence of a normal sense of smell, it has been termed 'normosmic idiopathic hypogonadotropic hypogonadism (nIHH)' (summary by Raivio et al., 2007). Because families have been found to segregate both KS and nIHH, the disorder is here referred to as 'hypogonadotropic hypogonadism with or without anosmia (HH).' For a discussion of genetic heterogeneity of hypogonadotropic hypogonadism with or without anosmia, see 147950. (614841)

MalaCards based summary : Hypogonadotropic Hypogonadism 12 with or Without Anosmia, also known as eunuchoidism, familial hypogonadotropic, is related to gordon holmes syndrome and ataxia and polyneuropathy, adult-onset. An important gene associated with Hypogonadotropic Hypogonadism 12 with or Without Anosmia is GNRH1 (Gonadotropin Releasing Hormone 1), and among its related pathways/superpathways are Activation of cAMP-Dependent PKA and Sweet Taste Signaling. Affiliated tissues include pituitary, olfactory bulb and ovary, and related phenotypes are anosmia and delayed puberty

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.

UniProtKB/Swiss-Prot : 73 Hypogonadotropic hypogonadism 12 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 12 with or Without Anosmia

Diseases in the Hypogonadotropic Hypogonadism 7 with or Without Anosmia family:

Hypogonadotropic Hypogonadism 2 with or Without Anosmia Hypogonadotropic Hypogonadism 23 Without Anosmia
Hypogonadotropic Hypogonadism 24 Without Anosmia Hypogonadotropic Hypogonadism 3 with or Without Anosmia
Hypogonadotropic Hypogonadism 1 with or Without Anosmia Hypogonadotropic Hypogonadism 4 with or Without Anosmia
Hypogonadotropic Hypogonadism 5 with or Without Anosmia Hypogonadotropic Hypogonadism 6 with or Without Anosmia
Hypogonadotropic Hypogonadism 8 with or Without Anosmia Hypogonadotropic Hypogonadism 9 with or Without Anosmia
Hypogonadotropic Hypogonadism 10 with or Without Anosmia Hypogonadotropic Hypogonadism 11 with or Without Anosmia
Hypogonadotropic Hypogonadism 12 with or Without Anosmia Hypogonadotropic Hypogonadism 13 with or Without Anosmia
Hypogonadotropic Hypogonadism 14 with or Without Anosmia Hypogonadotropic Hypogonadism 15 with or Without Anosmia
Hypogonadotropic Hypogonadism 16 with or Without Anosmia Hypogonadotropic Hypogonadism 17 with or Without Anosmia
Hypogonadotropic Hypogonadism 18 with or Without Anosmia Hypogonadotropic Hypogonadism 19 with or Without Anosmia
Hypogonadotropic Hypogonadism 20 with or Without Anosmia Hypogonadotropic Hypogonadism 21 with or Without Anosmia
Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 gordon holmes syndrome 10.2
2 ataxia and polyneuropathy, adult-onset 10.2
3 androgen insensitivity, partial 10.2

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 anosmia 31 frequent (33%) HP:0000458
2 delayed puberty 31 HP:0000823
3 cryptorchidism 31 HP:0000028
4 primary amenorrhea 31 HP:0000786
5 micropenis 31 HP:0000054
6 decreased testicular size 31 HP:0008734
7 absent pubic hair 31 HP:0002555
8 decreased serum estradiol 31 HP:0008214
9 hypoplasia of the uterus 31 HP:0000013
10 hypoplasia of the ovary 31 HP:0008724
11 decreased serum testosterone level 31 HP:0040171
12 decreased circulating gonadotropin level 31 HP:0030339
13 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
cryptorchidism
micropenis
small testes

Endocrine Features:
hypogonadotropic hypogonadism
delayed or absent puberty
low to undetectable gonadotropin levels
low testosterone level
low estradiol level

Skin Nails Hair Hair:
absence of pubic hair

Genitourinary Internal Genitalia Female:
primary amenorrhea
small uterus
small ovaries
few to no follicles on ultrasonography

Chest Breasts:
delayed or absent thelarche

Clinical features from OMIM:

614841

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 29 GNRH1

Anatomical Context for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

40
Pituitary, Olfactory Bulb, Ovary, Uterus, Testes, Heart

Publications for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

(show all 29)
# Title Authors PMID Year
1
Isolated familial hypogonadotropic hypogonadism and a GNRH1 mutation. 56 6
19535795 2009
2
A needle in a haystack: mutations in GNRH1 as a rare cause of isolated GnRH deficiency. 56
21722705 2011
3
GNRH1 mutations in patients with idiopathic hypogonadotropic hypogonadism. 56
19567835 2009
4
Reversal of idiopathic hypogonadotropic hypogonadism. 56
17761590 2007
5
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 6
20301509 2007
6
Bench and bedside--the G protein-coupled receptor GPR54 and puberty. 56
14573729 2003
7
The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human. 56
8954047 1996
8
Familial idiopathic gonadotropin deficiency: a hypothalamic form of hypogonadism. 56
6410916 1983
9
Familial idiopathic hypogonadotrophic hypogonadism. 56
319614 1977
10
Isolated gonadotropin deficiency. A heterogenous syndrome. 56
4586101 1974
11
Familial monotropic pituitary gonadotropin insufficiency. 56
5656436 1968
12
Familial hypogonadotropic eunuchoidism. 56
13242646 1955
13
Congenital hypogonadotrophic hypogonadism in five members of a family, three brothers and two sisters. 56
13177550 1954
14
A 3D molecular atlas of the chick embryonic heart. 61
31283921 2019
15
Micro-indentation and optical coherence tomography for the mechanical characterization of embryos: Experimental setup and measurements on chicken embryos. 61
31377425 2019
16
Contraction and stress-dependent growth shape the forebrain of the early chicken embryo. 61
27639481 2017
17
Depletion of Essential Fatty Acids in the Food Source Affects Aerobic Capacities of the Golden Grey Mullet Liza aurata in a Warming Seawater Context. 61
26030666 2015
18
Sedimentary records of hydroxylated and methoxylated polybrominated diphenyl ethers in the southern Yellow Sea. 61
24910183 2014
19
Chicken primordial germ cells use the anterior vitelline veins to enter the embryonic circulation. 61
23213395 2012
20
Comprehensive gene-expression survey identifies wif1 as a modulator of cardiomyocyte differentiation. 61
21179454 2010
21
Expression of class I histone deacetylases during chick and mouse development. 61
20979029 2010
22
Dynamic expression of Endoglin, a TGF-beta co-receptor, during pre-circulation vascular development in chick. 61
20209444 2010
23
Detection of acetyl monoglyceride as a metabolite of newly isolated glycerol-assimilating bacteria. 61
19202313 2009
24
Spatiotemporally separated cardiac neural crest subpopulations that target the outflow tract septum and pharyngeal arch arteries. 61
14533175 2003
25
Temporal restriction of migratory and lineage potential in rhombomere 1 and 2 neural crest. 61
12618134 2003
26
Influence of the neural tube/notochord complex on MyoD expression and cellular proliferation in chicken embryos. 61
12563520 2003
27
In normal development pulmonary veins are connected to the sinus venosus segment in the left atrium. 61
8540635 1995
28
Regional specification during cerebellar development. 61
8087538 1993
29
Shaping, invagination, and closure of the chick embryo otic vesicle: scanning electron microscopic and quantitative study. 61
2260786 1990

Variations for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

6 (show all 18) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 GNRH1 NM_001083111.2(GNRH1):c.141G>C (p.Glu47Asp)SNV Conflicting interpretations of pathogenicity 734969 8:25280706-25280706 8:25423190-25423190
3 GNRH1 NM_001083111.2(GNRH1):c.177A>G (p.Gln59=)SNV Conflicting interpretations of pathogenicity 362651 rs368837931 8:25279149-25279149 8:25421633-25421633
4 GNRH1 NM_001083111.2(GNRH1):c.-1-110A>GSNV Uncertain significance 362654 rs886062837 8:25280957-25280957 8:25423441-25423441
5 GNRH1 NM_001083111.2(GNRH1):c.-1-140G>ASNV Uncertain significance 362655 rs886062838 8:25280987-25280987 8:25423471-25423471
6 GNRH1 NM_001083111.2(GNRH1):c.210T>A (p.Ser70=)SNV Uncertain significance 911829 8:25279116-25279116 8:25421600-25421600
7 GNRH1 NM_001083111.2(GNRH1):c.-2+59G>TSNV Uncertain significance 908878 8:25281658-25281658 8:25424142-25424142
8 GNRH1 NM_000825.3(GNRH1):c.-984C>GSNV Uncertain significance 908879 8:25281842-25281842 8:25424326-25424326
9 GNRH1 NM_000825.3(GNRH1):c.-1198G>ASNV Uncertain significance 908880 8:25282056-25282056 8:25424540-25424540
10 GNRH1 NM_000825.3(GNRH1):c.-1316C>TSNV Uncertain significance 909738 8:25282174-25282174 8:25424658-25424658
11 GNRH1 NM_000825.3(GNRH1):c.-1624G>ASNV Uncertain significance 909739 8:25282482-25282482 8:25424966-25424966
12 GNRH1 NM_001083111.2(GNRH1):c.-2+194C>ASNV Uncertain significance 362658 rs534899690 8:25281523-25281523 8:25424007-25424007
13 GNRH1 NM_001083111.2(GNRH1):c.238-12T>CSNV Uncertain significance 362649 rs550878484 8:25276988-25276988 8:25419472-25419472
14 GNRH1 NM_001083111.2(GNRH1):c.237+8A>CSNV Uncertain significance 362650 rs751932727 8:25279081-25279081 8:25421565-25421565
15 GNRH1 NM_001083111.2(GNRH1):c.-2+5A>CSNV Likely benign 362659 rs78322917 8:25281712-25281712 8:25424196-25424196
16 GNRH1 NM_001083111.2(GNRH1):c.-2+388T>CSNV Likely benign 362657 rs17790824 8:25281329-25281329 8:25423813-25423813
17 GNRH1 NM_001083111.2(GNRH1):c.47G>C (p.Trp16Ser)SNV Benign 362652 rs6185 8:25280800-25280800 8:25423284-25423284
18 GNRH1 NM_001083111.2(GNRH1):c.183C>T (p.Phe61=)SNV Benign 788272 8:25279143-25279143 8:25421627-25421627

Expression for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 12 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Pathways related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.21 KCTD9 GNRH1
2
Show member pathways
11.51 KCTD9 GNRH1

GO Terms for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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