MCID: HYP522
MIFTS: 20

Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Categories: Genetic diseases, Endocrine 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 75 29 13 6 73
Hh11 57 75
Hypogonadism, Hypogonadotropic, Type 11 with/without Anosmia 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
neuroendocrine recovery occurs in some patients


HPO:

32
hypogonadotropic hypogonadism 11 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614840
Disease Ontology 12 DOID:0090071
ICD10 33 E23.0
MeSH 44 D007006
UMLS 73 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)

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, olfactory bulb and testes, 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Chest Breasts:
delayed or absent thelarche

GenitourinaryInternal GenitaliaMale:
small testes
cryptorchidism

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

Genitourinary External Genitalia Male:
microphallus

Genitourinary Internal Genitalia Female:
primary amenorrhea


Clinical features from OMIM:

614840

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 primary amenorrhea 32 HP:0000786
3 hypogonadotrophic hypogonadism 32 HP:0000044
4 decreased testicular size 32 HP:0008734
5 micropenis 32 HP:0000054
6 absence of pubertal development 32 HP:0008197
7 microphallus 32 HP:0030260

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:

41
Pituitary, Olfactory Bulb, Testes

Publications for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 11 with or Without Anosmia

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 TACR3 NM_001059.2(TACR3): c.278G> A (p.Gly93Asp) single nucleotide variant Pathogenic rs121918124 GRCh37 Chromosome 4, 104640555: 104640555
2 TACR3 NM_001059.2(TACR3): c.278G> A (p.Gly93Asp) single nucleotide variant Pathogenic rs121918124 GRCh38 Chromosome 4, 103719398: 103719398
3 TACR3 NM_001059.2(TACR3): c.1057C> T (p.Pro353Ser) single nucleotide variant Pathogenic rs121918125 GRCh37 Chromosome 4, 104512672: 104512672
4 TACR3 NM_001059.2(TACR3): c.1057C> T (p.Pro353Ser) single nucleotide variant Pathogenic rs121918125 GRCh38 Chromosome 4, 103591515: 103591515
5 TACR3 NM_001059.2(TACR3): c.824G> A (p.Trp275Ter) single nucleotide variant Likely pathogenic rs144292455 GRCh37 Chromosome 4, 104577415: 104577415
6 TACR3 NM_001059.2(TACR3): c.824G> A (p.Trp275Ter) single nucleotide variant Likely pathogenic rs144292455 GRCh38 Chromosome 4, 103656258: 103656258
7 TACR3 NM_001059.2(TACR3): c.766T> C (p.Tyr256His) single nucleotide variant Pathogenic rs397515483 GRCh37 Chromosome 4, 104577473: 104577473
8 TACR3 NM_001059.2(TACR3): c.766T> C (p.Tyr256His) single nucleotide variant Pathogenic rs397515483 GRCh38 Chromosome 4, 103656316: 103656316
9 TACR3 NM_001059.2(TACR3): c.692C> T (p.Thr231Ile) single nucleotide variant Likely pathogenic rs764659822 GRCh37 Chromosome 4, 104579417: 104579417
10 TACR3 NM_001059.2(TACR3): c.692C> T (p.Thr231Ile) single nucleotide variant Likely pathogenic rs764659822 GRCh38 Chromosome 4, 103658260: 103658260

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 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
Content
Loading form....