MCID: HYP557
MIFTS: 19

Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Categories: Genetic diseases, Endocrine 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 75 29 6 73
Hh19 57 75
Hypogonadism, Hypogonadotropic, Type 19 with/without Anosmia 40

Characteristics:

OMIM:

57
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:

32
hypogonadotropic hypogonadism 19 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615269
Disease Ontology 12 DOID:0090090
ICD10 33 E23.0
MeSH 44 D007006
UMLS 73 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)

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 and olfactory bulb, 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss (in some patients)

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

Skeletal:
osteopenia (in some patients)
osteoporosis (in some patients)
fractures (in some patients)

Endocrine Features:
delayed or absent puberty

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

Genitourinary:
delayed or absent puberty

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


Clinical features from OMIM:

615269

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

32
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 occasional (7.5%) HP:0000938
2 hearing impairment 32 occasional (7.5%) HP:0000365
3 abnormality of the dentition 32 occasional (7.5%) HP:0000164
4 osteoporosis 32 occasional (7.5%) HP:0000939

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:

41
Pituitary, Olfactory Bulb

Publications for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 19 with or Without Anosmia

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

75
# 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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DUSP6 NM_001946.3(DUSP6): c.566A> G (p.Asn189Ser) single nucleotide variant Pathogenic rs143946794 GRCh37 Chromosome 12, 89744637: 89744637
2 DUSP6 NM_001946.3(DUSP6): c.566A> G (p.Asn189Ser) single nucleotide variant Pathogenic rs143946794 GRCh38 Chromosome 12, 89350860: 89350860
3 DUSP6 NM_001946.3(DUSP6): c.545C> T (p.Ser182Phe) single nucleotide variant risk factor rs139318648 GRCh37 Chromosome 12, 89744658: 89744658
4 DUSP6 NM_001946.3(DUSP6): c.545C> T (p.Ser182Phe) single nucleotide variant risk factor rs139318648 GRCh38 Chromosome 12, 89350881: 89350881
5 DUSP6 NM_001946.3(DUSP6): c.1037C> T (p.Thr346Met) single nucleotide variant risk factor rs146089505 GRCh37 Chromosome 12, 89743140: 89743140
6 DUSP6 NM_001946.3(DUSP6): c.1037C> T (p.Thr346Met) single nucleotide variant risk factor rs146089505 GRCh38 Chromosome 12, 89349363: 89349363
7 DUSP6 NM_001946.3(DUSP6): c.229T> A (p.Phe77Ile) single nucleotide variant Pathogenic rs587776978 GRCh37 Chromosome 12, 89745588: 89745588
8 DUSP6 NM_001946.3(DUSP6): c.229T> A (p.Phe77Ile) single nucleotide variant Pathogenic rs587776978 GRCh38 Chromosome 12, 89351811: 89351811

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

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74 UMLS via Orphanet
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