HH10
MCID: HYP521
MIFTS: 26

Hypogonadotropic Hypogonadism 10 with or Without Anosmia (HH10)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 10 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 10 with or Without Anosmia 57 12 72 29 13 6 70
Hh10 57 72
Hypogonadism, Hypogonadotropic, Type 10 with/without Anosmia 39
Hypogonadotropic Hypogonadism 10 Without Anosmia 6

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
neuroendocrine recovery occurs in some patients
only female patients reported (last curated october 2013)


HPO:

31
hypogonadotropic hypogonadism 10 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090089
OMIM® 57 614839
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C3553843

Summaries for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

OMIM® : 57 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. (614839) (Updated 20-May-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 10 with or Without Anosmia, is also known as hh10. An important gene associated with Hypogonadotropic Hypogonadism 10 with or Without Anosmia is TAC3 (Tachykinin Precursor 3). Affiliated tissues include pituitary, eye and heart, and related phenotypes are intellectual disability, mild and anosmia

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the TAC3 gene on chromosome 12q13.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 10 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 10 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 10 with or Without Anosmia:

31
# Description HPO Frequency HPO Source Accession
1 intellectual disability, mild 31 occasional (7.5%) HP:0001256
2 anosmia 31 occasional (7.5%) HP:0000458
3 primary amenorrhea 31 HP:0000786
4 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea

Chest Breasts:
delayed or absent thelarche

Head And Neck Nose:
anosmia (in some patients)

Neurologic Central Nervous System:
mental retardation, mild (in some patients)
anosmia (in some patients)

Endocrine Features:
delayed or absent puberty
patients have normal pituitary function
low estradiol levels in females
low or normal serum gonadotropins

Clinical features from OMIM®:

614839 (Updated 20-May-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 10 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 10 with or Without Anosmia 29 TAC3

Anatomical Context for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 10 with or Without Anosmia:

40
Pituitary, Eye, Heart, Hypothalamus, Medulla Oblongata, Bone, Brain

Publications for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 10 with or Without Anosmia:

(show top 50) (show all 54)
# Title Authors PMID Year
1
TAC3/TACR3 mutations reveal preferential activation of gonadotropin-releasing hormone release by neurokinin B in neonatal life followed by reversal in adulthood. 6 57
20332248 2010
2
TAC3 and TACR3 mutations in familial hypogonadotropic hypogonadism reveal a key role for Neurokinin B in the central control of reproduction. 6 57
19079066 2009
3
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
4
Quail-chick grafting experiments corroborate that Tbr1-positive eminential prethalamic neurons migrate along three streams into hypothalamus, subpallium and septocommissural areas. 61
33544184 2021
5
Baicalin rescues hyperglycemia-induced neural tube defects via targeting on retinoic acid signaling. 61
32774702 2020
6
In ovo technique for cell injection in the CPM followed by bead implantation in the BA2 of chicken embryos. 61
32021827 2020
7
Zika virus induces abnormal cranial osteogenesis by negatively affecting cranial neural crest development. 61
30665021 2019
8
RNA-Seq analysis in an avian model of maternal phenylketonuria. 61
30600150 2019
9
Role of FGF signalling in neural crest cell migration during early chick embryo development. 61
30520400 2018
10
High salt-induced excess reactive oxygen species production resulted in heart tube malformation during gastrulation. 61
29574800 2018
11
The expression dynamics of mechanosensitive genes in extra-embryonic vasculature after heart starts to beat in chick embryo. 61
26889656 2016
12
Matrix Gla Protein expression pattern in the early avian embryo. 61
26934291 2016
13
Why is cytoskeletal contraction required for cardiac fusion before but not after looping begins? 61
25635663 2015
14
Origin and early development of the chicken adenohypophysis. 61
25741242 2015
15
Temporal and Spatial Expression Patterns of miR-302 and miR-367 During Early Embryonic Chick Development. 61
25473455 2014
16
The effects of an environmentally relevant 58-congener polychlorinated biphenyl (PCB) mixture on cardiac development in the chick embryo. 61
23417652 2013
17
Slit/Robo1 signaling regulates neural tube development by balancing neuroepithelial cell proliferation and differentiation. 61
23438940 2013
18
Origin and plasticity of the subdivisions of the inferior olivary complex. 61
22960232 2012
19
Analysis of neural crest migration and differentiation by cross-species transplantation. 61
22349214 2012
20
Forced notch signaling inhibits commissural axon outgrowth in the developing chick central nerve system. 61
21283742 2011
21
Decorin developmental expression and function in the early avian embryo. 61
21948712 2011
22
Dynamic expression of Endoglin, a TGF-beta co-receptor, during pre-circulation vascular development in chick. 61
20209444 2010
23
Retinoic acid is a negative physiological regulator of N-cadherin during early avian heart morphogenesis. 61
19843154 2009
24
Incipient forebrain boundaries traced by differential gene expression and fate mapping in the chick neural plate. 61
19699194 2009
25
Dynamic expression of neurogenic markers in the developing chick olfactory epithelium. 61
19441054 2009
26
Fate map of the chick embryo neural tube. 61
19379273 2009
27
Association energetics of cross-reactive and specific antibodies. 61
19166328 2009
28
Competence, specification and commitment to an olfactory placode fate. 61
19029046 2008
29
Signaling by bone morphogenetic proteins directs formation of an ectodermal signaling center that regulates craniofacial development. 61
18028903 2007
30
A model of early molecular regionalization in the chicken embryonic pretectum. 61
17912743 2007
31
Sustained interactive Wnt and FGF signaling is required to maintain isthmic identity. 61
17383629 2007
32
Spatial and temporal expression of perlecan in the early chick embryo. 61
17785960 2007
33
Understanding antibody-antigen associations by molecular dynamics simulations: detection of important intra- and inter-molecular salt bridges. 61
17652781 2007
34
Expression of Lrrn1 marks the prospective site of the zona limitans thalami in the early embryonic chicken diencephalon. 61
16631417 2006
35
[Cloning and expression analysis of human N-acetyltransferase doman containing gene hNATL]. 61
16944568 2006
36
Entactin and laminin gamma 1-chain gene expression in the early chick embryo. 61
15744670 2005
37
Expression of bone morphogenetic protein-10 mRNA during chicken heart development. 61
15224399 2004
38
Dynamic patterns of expression of BMP isoforms 2, 4, 5, 6, and 7 during chicken heart development. 61
15224405 2004
39
Binding and dissociation kinetics using fractals: an analysis of electrostatic effects and randomly coupled and oriented coupled receptors on biosensor surfaces. 61
15128113 2004
40
Distinct activities of Msx1 and Msx3 in dorsal neural tube development. 61
14973289 2004
41
Modeling the binding sites of anti-hen egg white lysozyme antibodies HyHEL-8 and HyHEL-26: an insight into the molecular basis of antibody cross-reactivity and specificity. 61
14581222 2003
42
Retinoid receptors and vitamin A deficiency: differential patterns of transcription during early avian development and the rapid induction of RARs by retinoic acid. 61
12921748 2003
43
Differences in electrostatic properties at antibody-antigen binding sites: implications for specificity and cross-reactivity. 61
12496069 2002
44
Transient expression of TIP60 protein during early chick heart development. 61
11891991 2002
45
Rostrocaudal nuclear relationships in the avian medulla oblongata: a fate map with quail chick chimeras. 61
11056462 2000
46
Differential expression of laminin genes in early chick embryo. 61
11128577 2000
47
[Formation of the boundary between the midbrain and the hindbrain: involvement of Otx2 and Gbx2 genes]. 61
11324311 2000
48
Structural differences among monoclonal antibodies with distinct fine specificities and kinetic properties. 61
10698321 1999
49
Fgf8 and Gbx2 induction concomitant with Otx2 repression is correlated with midbrain-hindbrain fate of caudal prosencephalon. 61
10375509 1999
50
Comparative analysis of Otx2, Gbx2, Pax2, Fgf8 and Wnt1 gene expressions during the formation of the chick midbrain/hindbrain domain. 61
10330495 1999

Variations for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 10 with or Without Anosmia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TAC3 NM_013251.4(TAC3):c.269T>C (p.Met90Thr) SNV Pathogenic 14027 rs121918123 GRCh37: 12:57406629-57406629
GRCh38: 12:57012845-57012845
2 TAC3 NM_013251.4(TAC3):c.61del (p.Ala21fs) Deletion Pathogenic 66083 rs398122393 GRCh37: 12:57409521-57409521
GRCh38: 12:57015737-57015737

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 10 with or Without Anosmia:

72
# Symbol AA change Variation ID SNP ID
1 TAC3 p.Met90Thr VAR_069176 rs121918123
2 TAC3 p.Arg80Ser VAR_069969 rs727505372

Expression for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 10 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 10 with or Without Anosmia

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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