HH19
MCID: HYP557
MIFTS: 25

Hypogonadotropic Hypogonadism 19 with or Without Anosmia (HH19)

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

Aliases & Classifications for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 19 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 19 with or Without Anosmia 57 12 72 29 6 70
Hh19 57 72
Hypogonadism, Hypogonadotropic, Type 19 with/without Anosmia 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant (see miscellaneous below)

Miscellaneous:
phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene


HPO:

31
hypogonadotropic hypogonadism 19 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090090
OMIM® 57 615269
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C3808981

Summaries for Hypogonadotropic Hypogonadism 19 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 as well as a discussion of oligogenicity of this disorder, see 147950. (615269) (Updated 05-Apr-2021)

MalaCards based summary : Hypogonadotropic Hypogonadism 19 with or Without Anosmia, is also known as hh19. An important gene associated with Hypogonadotropic Hypogonadism 19 with or Without Anosmia is DUSP6 (Dual Specificity Phosphatase 6). Affiliated tissues include pituitary, eye and endothelial, and related phenotypes are osteopenia and hearing impairment

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the DUSP6 gene on chromosome 12q22, sometimes in association with mutations in other genes.

UniProtKB/Swiss-Prot : 72 Hypogonadotropic hypogonadism 19 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 19 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 19 with or Without Anosmia:

31
# Description HPO Frequency HPO Source Accession
1 osteopenia 31 occasional (7.5%) HP:0000938
2 hearing impairment 31 occasional (7.5%) HP:0000365
3 abnormality of the dentition 31 occasional (7.5%) HP:0000164
4 osteoporosis 31 occasional (7.5%) HP:0000939

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
osteopenia (in some patients)
osteoporosis (in some patients)
fractures (in some patients)

Endocrine Features:
delayed or absent puberty

Neurologic Central Nervous System:
hyposmia/anosmia (in some patients)

Head And Neck Teeth:
abnormal dentition (in some patients)

Genitourinary:
delayed or absent puberty

Head And Neck Nose:
hyposmia/anosmia (in some patients)

Head And Neck Ears:
hearing loss (in some patients)

Clinical features from OMIM®:

615269 (Updated 05-Apr-2021)

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 19 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 19 with or Without Anosmia 29 DUSP6

Anatomical Context for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 19 with or Without Anosmia:

40
Pituitary, Eye, Endothelial

Publications for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 19 with or Without Anosmia:

(show all 13)
# Title Authors PMID Year
1
Mutations in FGF17, IL17RD, DUSP6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism. 57 6
23643382 2013
2
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
3
In ovo technique for cell injection in the CPM followed by bead implantation in the BA2 of chicken embryos. 61
32021827 2020
4
Study on differentiation during embryonic development across selective and ancestral breeds. 61
27709729 2017
5
Matrix Gla Protein expression pattern in the early avian embryo. 61
26934291 2016
6
Chicken trunk neural crest migration visualized with HNK1. 61
25805416 2015
7
Interactions between FGF18 and retinoic acid regulate differentiation of chick embryo limb myoblasts. 61
25446536 2014
8
Versican G1 domain and V3 isoform overexpression results in increased chondrogenesis in the developing chick limb in ovo. 61
20730861 2010
9
Pattern of Wnt ligand expression during chick eye development. 61
17713656 2007
10
Myocardial heterogeneity in permissiveness for epicardium-derived cells and endothelial precursor cells along the developing heart tube at the onset of coronary vascularization. 61
15627984 2005
11
Temporal restriction of migratory and lineage potential in rhombomere 1 and 2 neural crest. 61
12618134 2003
12
Further observations on the susceptibility of diencephalic prosomeres to En-2 induction and on the resulting histogenetic capabilities. 61
8887316 1996
13
Isomyosin expression in developing chicken atria: a marker for the development of conductive tissue? 61
3318555 1987

Variations for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 19 with or Without Anosmia:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DUSP6 NM_001946.4(DUSP6):c.566A>G (p.Asn189Ser) SNV Pathogenic 50854 rs143946794 GRCh37: 12:89744637-89744637
GRCh38: 12:89350860-89350860
2 DUSP6 NM_001946.4(DUSP6):c.117C>A (p.Cys39Ter) SNV Pathogenic 1033462 GRCh37: 12:89745700-89745700
GRCh38: 12:89351923-89351923
3 DUSP6 NM_001946.4(DUSP6):c.545C>T (p.Ser182Phe) SNV risk factor 50855 rs139318648 GRCh37: 12:89744658-89744658
GRCh38: 12:89350881-89350881
4 DUSP6 NM_001946.4(DUSP6):c.1037C>T (p.Thr346Met) SNV risk factor 50856 rs146089505 GRCh37: 12:89743140-89743140
GRCh38: 12:89349363-89349363
5 DUSP6 NM_001946.4(DUSP6):c.229T>A (p.Phe77Ile) SNV Uncertain significance 50857 rs587776978 GRCh37: 12:89745588-89745588
GRCh38: 12:89351811-89351811
6 DUSP6 NM_001946.4(DUSP6):c.169G>A (p.Ala57Thr) SNV Uncertain significance 1029551 GRCh37: 12:89745648-89745648
GRCh38: 12:89351871-89351871
7 DUSP6 NM_001946.4(DUSP6):c.340G>T (p.Val114Leu) SNV Benign 802882 rs2279574 GRCh37: 12:89745477-89745477
GRCh38: 12:89351700-89351700

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 19 with or Without Anosmia:

72
# Symbol AA change Variation ID SNP ID
1 DUSP6 p.Phe77Ile VAR_069943 rs587776978
2 DUSP6 p.Ser182Phe VAR_069944 rs139318648
3 DUSP6 p.Asn189Ser VAR_069945 rs143946794
4 DUSP6 p.Thr346Met VAR_069946 rs146089505

Expression for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 19 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 19 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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