HH11
MCID: HYP522
MIFTS: 28

Hypogonadotropic Hypogonadism 11 with or Without Anosmia (HH11)

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

Aliases & Classifications for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 11 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 11 with or Without Anosmia 57 12 72 29 13 6 70
Hh11 57 72
Hypogonadism, Hypogonadotropic, Type 11 with/without Anosmia 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
neuroendocrine recovery occurs in some patients


HPO:

31
hypogonadotropic hypogonadism 11 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090071
OMIM® 57 614840
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C3553844

Summaries for Hypogonadotropic Hypogonadism 11 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. (614840) (Updated 05-Apr-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 11 with or Without Anosmia, is also known as hh11. An important gene associated with Hypogonadotropic Hypogonadism 11 with or Without Anosmia is TACR3 (Tachykinin Receptor 3). Affiliated tissues include pituitary, testes and hypothalamus, and related phenotypes are cryptorchidism and primary amenorrhea

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the TACR3 gene on chromosome 4q24.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 11 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 11 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 11 with or Without Anosmia:

31 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 HP:0000028
2 primary amenorrhea 31 HP:0000786
3 micropenis 31 HP:0000054
4 decreased testicular size 31 HP:0008734
5 absence of pubertal development 31 HP:0008197
6 microphallus 31 HP:0030260
7 hypogonadotropic hypogonadism 31 HP:0000044

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Genitourinary Internal Genitalia Male:
cryptorchidism
small testes

Genitourinary External Genitalia Male:
microphallus

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

Genitourinary Internal Genitalia Female:
primary amenorrhea

Chest Breasts:
delayed or absent thelarche

Clinical features from OMIM®:

614840 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 11 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 11 with or Without Anosmia 29 TACR3

Anatomical Context for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 11 with or Without Anosmia:

40
Pituitary, Testes, Hypothalamus

Publications for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 11 with or Without Anosmia:

(show all 23)
# 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. 57 6
19079066 2009
3
The prevalence of digenic mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 6
22035731 2011
4
Nasal embryonic LHRH factor (NELF) mutations in patients with normosmic hypogonadotropic hypogonadism and Kallmann syndrome. 6
21300340 2011
5
Normosmic congenital hypogonadotropic hypogonadism due to TAC3/TACR3 mutations: characterization of neuroendocrine phenotypes and novel mutations. 6
22031817 2011
6
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
7
Quail-chick grafting experiments corroborate that Tbr1-positive eminential prethalamic neurons migrate along three streams into hypothalamus, subpallium and septocommissural areas. 61
33544184 2021
8
Transient increase in VEGF-A leads to cardiac tube anomalies and increased risk of congenital heart malformations. 61
33620155 2021
9
Micro-indentation and optical coherence tomography for the mechanical characterization of embryos: Experimental setup and measurements on chicken embryos. 61
31377425 2019
10
Contraction and stress-dependent growth shape the forebrain of the early chicken embryo. 61
27639481 2017
11
Sedimentary records of hydroxylated and methoxylated polybrominated diphenyl ethers in the southern Yellow Sea. 61
24910183 2014
12
Transcriptomic analysis of midbrain and individual hindbrain rhombomeres in the chick embryo. 61
25977772 2014
13
Funny current channel HCN4 delineates the developing cardiac conduction system in chicken heart. 61
21421080 2011
14
Birth of ophthalmic trigeminal neurons initiates early in the placodal ectoderm. 61
19266562 2009
15
Expression and regulation of HTRA1 during chick and early mouse development. 61
18570253 2008
16
Differential expression of Eya1 and Eya2 during chick early embryonic development. 61
18316249 2008
17
A model of early molecular regionalization in the chicken embryonic pretectum. 61
17912743 2007
18
Locus coeruleus neurons originate in alar rhombomere 1 and migrate into the basal plate: Studies in chick and mouse embryos. 61
16628617 2006
19
Serotypes and anti-microbial susceptibility of Plesiomonas shigelloides isolates from humans, animals and aquatic environments in different countries. 61
14690722 2004
20
Temporal restriction of migratory and lineage potential in rhombomere 1 and 2 neural crest. 61
12618134 2003
21
Transient expression of TIP60 protein during early chick heart development. 61
11891991 2002
22
Asymmetric mRNA expression in the retinal neuroepithelium of the chick embryo assessed by differential display polymerase chain reaction. 61
9694236 1998
23
Development of the pharyngeal arch system related to the pulmonary and bronchial vessels in the avian embryo. With a concept on systemic-pulmonary collateral artery formation. 61
8462154 1993

Variations for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 11 with or Without Anosmia:

6 (show all 44)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TACR3 NM_001059.3(TACR3):c.278G>A (p.Gly93Asp) SNV Pathogenic 14025 rs121918124 GRCh37: 4:104640555-104640555
GRCh38: 4:103719398-103719398
2 TACR3 NM_001059.3(TACR3):c.1057C>T (p.Pro353Ser) SNV Pathogenic 14026 rs121918125 GRCh37: 4:104512672-104512672
GRCh38: 4:103591515-103591515
3 TACR3 NM_001059.3(TACR3):c.766T>C (p.Tyr256His) SNV Pathogenic 66085 rs397515483 GRCh37: 4:104577473-104577473
GRCh38: 4:103656316-103656316
4 TACR3 NM_001059.3(TACR3):c.737+1G>A SNV Pathogenic 818214 rs760022956 GRCh37: 4:104579371-104579371
GRCh38: 4:103658214-103658214
5 TACR3 NM_001059.3(TACR3):c.824G>A (p.Trp275Ter) SNV Pathogenic 66084 rs144292455 GRCh37: 4:104577415-104577415
GRCh38: 4:103656258-103656258
6 TACR3 NM_001059.3(TACR3):c.692C>T (p.Thr231Ile) SNV Likely pathogenic 183684 rs764659822 GRCh37: 4:104579417-104579417
GRCh38: 4:103658260-103658260
7 TACR3 NM_001059.3(TACR3):c.579C>T (p.Pro193=) SNV Uncertain significance 347113 rs62340657 GRCh37: 4:104579530-104579530
GRCh38: 4:103658373-103658373
8 TACR3 NM_001059.3(TACR3):c.-20G>C SNV Uncertain significance 347116 rs201377092 GRCh37: 4:104640852-104640852
GRCh38: 4:103719695-103719695
9 TACR3 NM_001059.3(TACR3):c.1290G>A (p.Thr430=) SNV Uncertain significance 347106 rs138661164 GRCh37: 4:104510947-104510947
GRCh38: 4:103589790-103589790
10 TACR3 NM_001059.3(TACR3):c.737C>T (p.Thr246Ile) SNV Uncertain significance 347111 rs200991185 GRCh37: 4:104579372-104579372
GRCh38: 4:103658215-103658215
11 TACR3 NM_001059.3(TACR3):c.114G>T (p.Glu38Asp) SNV Uncertain significance 347114 rs886058977 GRCh37: 4:104640719-104640719
GRCh38: 4:103719562-103719562
12 TACR3 NM_001059.3(TACR3):c.1188G>A (p.Arg396=) SNV Uncertain significance 347109 rs886058974 GRCh37: 4:104511049-104511049
GRCh38: 4:103589892-103589892
13 TACR3 NM_001059.3(TACR3):c.-111C>A SNV Uncertain significance 347120 rs371989130 GRCh37: 4:104640943-104640943
GRCh38: 4:103719786-103719786
14 TACR3 NM_001059.3(TACR3):c.688C>T (p.Arg230Cys) SNV Uncertain significance 901512 GRCh37: 4:104579421-104579421
GRCh38: 4:103658264-103658264
15 TACR3 NM_001059.3(TACR3):c.150C>T (p.Asn50=) SNV Uncertain significance 901513 GRCh37: 4:104640683-104640683
GRCh38: 4:103719526-103719526
16 TACR3 NM_001059.3(TACR3):c.138C>T (p.Asp46=) SNV Uncertain significance 726953 rs181951458 GRCh37: 4:104640695-104640695
GRCh38: 4:103719538-103719538
17 TACR3 NM_001059.3(TACR3):c.*143G>A SNV Uncertain significance 902026 GRCh37: 4:104510696-104510696
GRCh38: 4:103589539-103589539
18 TACR3 NM_001059.3(TACR3):c.*138G>A SNV Uncertain significance 902027 GRCh37: 4:104510701-104510701
GRCh38: 4:103589544-103589544
19 TACR3 NM_001059.3(TACR3):c.*125A>G SNV Uncertain significance 902028 GRCh37: 4:104510714-104510714
GRCh38: 4:103589557-103589557
20 TACR3 NM_001059.3(TACR3):c.*94T>G SNV Uncertain significance 902029 GRCh37: 4:104510745-104510745
GRCh38: 4:103589588-103589588
21 TACR3 NM_001059.3(TACR3):c.*87T>C SNV Uncertain significance 902030 GRCh37: 4:104510752-104510752
GRCh38: 4:103589595-103589595
22 TACR3 NM_001059.3(TACR3):c.1345G>T (p.Ala449Ser) SNV Uncertain significance 436936 rs17033889 GRCh37: 4:104510892-104510892
GRCh38: 4:103589735-103589735
23 TACR3 NM_001059.3(TACR3):c.-93A>G SNV Uncertain significance 902090 GRCh37: 4:104640925-104640925
GRCh38: 4:103719768-103719768
24 TACR3 NM_001059.3(TACR3):c.1321C>T (p.Arg441Cys) SNV Uncertain significance 586774 rs146482011 GRCh37: 4:104510916-104510916
GRCh38: 4:103589759-103589759
25 TACR3 NM_001059.3(TACR3):c.1225A>G (p.Met409Val) SNV Uncertain significance 902915 GRCh37: 4:104511012-104511012
GRCh38: 4:103589855-103589855
26 TACR3 NM_001059.3(TACR3):c.1206C>T (p.Thr402=) SNV Uncertain significance 900359 GRCh37: 4:104511031-104511031
GRCh38: 4:103589874-103589874
27 TACR3 NM_001059.3(TACR3):c.-10A>T SNV Uncertain significance 347115 rs200498239 GRCh37: 4:104640842-104640842
GRCh38: 4:103719685-103719685
28 TACR3 NM_001059.3(TACR3):c.703G>A (p.Val235Met) SNV Uncertain significance 347112 rs886058976 GRCh37: 4:104579406-104579406
GRCh38: 4:103658249-103658249
29 TACR3 NM_001059.3(TACR3):c.-86C>A SNV Uncertain significance 347118 rs886058978 GRCh37: 4:104640918-104640918
GRCh38: 4:103719761-103719761
30 TACR3 NM_001059.3(TACR3):c.*202G>C SNV Uncertain significance 347102 rs886058970 GRCh37: 4:104510637-104510637
GRCh38: 4:103589480-103589480
31 TACR3 NM_001059.3(TACR3):c.1311T>C (p.Asn437=) SNV Uncertain significance 347105 rs886058972 GRCh37: 4:104510926-104510926
GRCh38: 4:103589769-103589769
32 TACR3 NM_001059.3(TACR3):c.1230A>T (p.Thr410=) SNV Uncertain significance 347108 rs886058973 GRCh37: 4:104511007-104511007
GRCh38: 4:103589850-103589850
33 TACR3 NM_001059.3(TACR3):c.548+2T>A SNV Uncertain significance 631933 rs772508077 GRCh37: 4:104640283-104640283
GRCh38: 4:103719126-103719126
34 TACR3 NM_001059.3(TACR3):c.-20G>A SNV Uncertain significance 347117 rs201377092 GRCh37: 4:104640852-104640852
GRCh38: 4:103719695-103719695
35 TACR3 NM_001059.3(TACR3):c.1246A>T (p.Asn416Tyr) SNV Uncertain significance 347107 rs143073792 GRCh37: 4:104510991-104510991
GRCh38: 4:103589834-103589834
36 TACR3 NM_001059.3(TACR3):c.1289C>T (p.Thr430Met) SNV Uncertain significance 450930 rs200736098 GRCh37: 4:104510948-104510948
GRCh38: 4:103589791-103589791
37 TACR3 NM_001059.3(TACR3):c.918G>A (p.Met306Ile) SNV Uncertain significance 419840 rs201088165 GRCh37: 4:104512811-104512811
GRCh38: 4:103591654-103591654
38 TACR3 NM_001059.3(TACR3):c.921A>C (p.Thr307=) SNV Likely benign 709734 rs34550211 GRCh37: 4:104512808-104512808
GRCh38: 4:103591651-103591651
39 TACR3 NM_001059.3(TACR3):c.1344C>T (p.Ser448=) SNV Likely benign 516718 rs76121575 GRCh37: 4:104510893-104510893
GRCh38: 4:103589736-103589736
40 TACR3 NM_001059.3(TACR3):c.873A>G (p.Leu291=) SNV Benign 516717 rs35085919 GRCh37: 4:104577366-104577366
GRCh38: 4:103656209-103656209
41 TACR3 NM_001059.3(TACR3):c.857A>G (p.Lys286Arg) SNV Benign 445619 rs2276973 GRCh37: 4:104577382-104577382
GRCh38: 4:103656225-103656225
42 TACR3 NM_001059.3(TACR3):c.1345G>A (p.Ala449Thr) SNV Benign 379526 rs17033889 GRCh37: 4:104510892-104510892
GRCh38: 4:103589735-103589735
43 TACR3 NM_001059.3(TACR3):c.-103T>C SNV Benign 347119 rs3733632 GRCh37: 4:104640935-104640935
GRCh38: 4:103719778-103719778
44 TACR3 NM_001059.3(TACR3):c.*73C>T SNV Benign 347104 rs2765 GRCh37: 4:104510766-104510766
GRCh38: 4:103589609-103589609

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 11 with or Without Anosmia:

72
# Symbol AA change Variation ID SNP ID
1 TACR3 p.Gly93Asp VAR_069177 rs121918124
2 TACR3 p.Pro353Ser VAR_069178 rs121918125
3 TACR3 p.Arg364Gln VAR_069963 rs150288991
4 TACR3 p.Phe137Val VAR_072976
5 TACR3 p.Met346Val VAR_072977 rs200148989

Expression for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 11 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 11 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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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