MCID: HYP549
MIFTS: 23

Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 5 with or Without Anosmia 57 12 75 13
Kallmann Syndrome 5 75 73
Hh5 57 75
Hypogonadism, Hypogonadotropic, Type 5 with/without Anosmia 40
Hypogonadotropic Hypogonadism 5 Without Anosmia 6
Kal5 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypogonadotropic hypogonadism 5 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612370
Disease Ontology 12 DOID:0090084
ICD10 33 E23.0
MeSH 44 D017436
UMLS 73 C2675302

Summaries for Hypogonadotropic Hypogonadism 5 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. (612370)

MalaCards based summary : Hypogonadotropic Hypogonadism 5 with or Without Anosmia, also known as kallmann syndrome 5, is related to kallmann syndrome 5. An important gene associated with Hypogonadotropic Hypogonadism 5 with or Without Anosmia is CHD7 (Chromodomain Helicase DNA Binding Protein 7). Affiliated tissues include pituitary, olfactory bulb and brain, and related phenotypes are cryptorchidism and hypogonadotrophic hypogonadism

Disease Ontology : 12 A hypogonadotropic hypogonadism that is characterised by autosomal dominant inheritance and has material basis in heterozygous mutation in the CHD7 gene on chromosome 8q12.

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 5 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 5 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kallmann syndrome 5 10.9

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
sensorineural deafness

Head And Neck Mouth:
cleft lip
cleft palate

Genitourinary Internal Genitalia Female:
hypoestrogenic amenorrhea

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Endocrine Features:
absent puberty
low serum gonadotropins
low serum testosterone


Clinical features from OMIM:

612370

Human phenotypes related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypogonadotrophic hypogonadism 32 HP:0000044
3 cleft palate 32 HP:0000175
4 sensorineural hearing impairment 32 HP:0000407
5 anosmia 32 frequent (33%) HP:0000458
6 cleft lip 32 HP:0410030

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Hypernatremia for the Prevention and Treatment of Cerebral Edema in Traumatic Brain Injury Withdrawn NCT01605357 Phase 1, Phase 2 Induced, sustained hypernatremia using hypertonic saline;Standard of care (hypertonic saline and mannitol; serum sodium)

Search NIH Clinical Center for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Anatomical Context for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

41
Pituitary, Olfactory Bulb, Brain

Publications for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

75 (show all 17)
# Symbol AA change Variation ID SNP ID
1 CHD7 p.His55Arg VAR_054623 rs121434345
2 CHD7 p.Ser834Phe VAR_054624 rs121434344
3 CHD7 p.Pro2880Leu VAR_054626 rs113938624
4 CHD7 p.Lys2948Glu VAR_054627
5 CHD7 p.Gly1684Ser VAR_068134
6 CHD7 p.Gly2108Arg VAR_068144 rs121434343
7 CHD7 p.Arg758His VAR_072956 rs202208393
8 CHD7 p.Arg886Trp VAR_072957
9 CHD7 p.Arg944Ser VAR_072958 rs587783435
10 CHD7 p.Asn1030Ser VAR_072959 rs886041167
11 CHD7 p.Lys1291Glu VAR_072960
12 CHD7 p.Leu1375Phe VAR_072962
13 CHD7 p.Met1838Val VAR_072965 rs759918327
14 CHD7 p.Arg1912Gly VAR_072966
15 CHD7 p.Arg2065Cys VAR_072967
16 CHD7 p.Arg2398Gly VAR_072968
17 CHD7 p.Gln2833Pro VAR_072969

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 5 with or Without Anosmia:

6
(show all 15)
# Gene Variation Type Significance SNP ID Assembly Location
1 CHD7 NM_017780.3(CHD7): c.2501C> T (p.Ser834Phe) single nucleotide variant Pathogenic rs121434344 GRCh37 Chromosome 8, 61728948: 61728948
2 CHD7 NM_017780.3(CHD7): c.2501C> T (p.Ser834Phe) single nucleotide variant Pathogenic rs121434344 GRCh38 Chromosome 8, 60816389: 60816389
3 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh37 Chromosome 8, 61714157: 61714157
4 CHD7 NM_017780.3(CHD7): c.2442+5G> C single nucleotide variant Pathogenic rs387906271 GRCh38 Chromosome 8, 60801598: 60801598
5 CHD7 CHD7, IVS8, G-A, +5 single nucleotide variant Pathogenic
6 CHD7 NM_017780.3(CHD7): c.164A> G (p.His55Arg) single nucleotide variant Pathogenic rs121434345 GRCh37 Chromosome 8, 61654155: 61654155
7 CHD7 NM_017780.3(CHD7): c.164A> G (p.His55Arg) single nucleotide variant Pathogenic rs121434345 GRCh38 Chromosome 8, 60741596: 60741596
8 CHD7 NM_017780.3(CHD7): c.2731C> T (p.Leu911Phe) single nucleotide variant Likely pathogenic rs886039881 GRCh38 Chromosome 8, 60821823: 60821823
9 CHD7 NM_017780.3(CHD7): c.2731C> T (p.Leu911Phe) single nucleotide variant Likely pathogenic rs886039881 GRCh37 Chromosome 8, 61734382: 61734382
10 CHD7 NM_017780.3(CHD7): c.8458_8459delCT (p.Leu2820Valfs) deletion Pathogenic rs886040962 GRCh38 Chromosome 8, 60865397: 60865398
11 CHD7 NM_017780.3(CHD7): c.8458_8459delCT (p.Leu2820Valfs) deletion Pathogenic rs886040962 GRCh37 Chromosome 8, 61777956: 61777957
12 CHD7 NM_017780.3(CHD7): c.5401C> A (p.His1801Asn) single nucleotide variant Likely pathogenic rs1131692039 GRCh37 Chromosome 8, 61761710: 61761710
13 CHD7 NM_017780.3(CHD7): c.5401C> A (p.His1801Asn) single nucleotide variant Likely pathogenic rs1131692039 GRCh38 Chromosome 8, 60849151: 60849151
14 CHD7 NM_017780.3(CHD7): c.1740_1744delAGTGAinsTC (p.Val581_Lys582delinsGln) indel Uncertain significance GRCh37 Chromosome 8, 61693633: 61693637
15 CHD7 NM_017780.3(CHD7): c.1740_1744delAGTGAinsTC (p.Val581_Lys582delinsGln) indel Uncertain significance GRCh38 Chromosome 8, 60781074: 60781078

Expression for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 5 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 5 with or Without Anosmia

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