MCID: HYP514
MIFTS: 23

Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 8 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 8 with or Without Anosmia 57 12 75 29 13 6
Hh8 57 75
Hypogonadism, Hypogonadotropic, Type 8 with/without Anosmia 40
Hypogonadotropic Hypogonadism 8 Without Anosmia 6

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable expressivity within a family


HPO:

32
hypogonadotropic hypogonadism 8 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypogonadotropic Hypogonadism 8 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. (614837)

MalaCards based summary : Hypogonadotropic Hypogonadism 8 with or Without Anosmia, is also known as hh8. An important gene associated with Hypogonadotropic Hypogonadism 8 with or Without Anosmia is KISS1R (KISS1 Receptor). Affiliated tissues include pituitary, olfactory bulb and uterus, and related phenotypes are osteopenia and delayed skeletal maturation

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous or compound heterozygous mutation in the KISS1R gene on chromosome 19p13, sometimes in association with mutation in other genes.

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 8 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 8 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
osteopenia
delayed bone age

Genitourinary Internal Genitalia Female:
primary amenorrhea
hypoplastic uterus
small ovaries (in some patients)
reduced number of follicles seen on ultrasound

Endocrine Features:
delayed or absent puberty
eunuchoid appearance of males
partial or complete serum gonadotropin deficiency
low estradiol in females
low testosterone in males

Genitourinary External Genitalia Male:
cryptorchidism
azoospermia
micropenis
small testes

Chest Breasts:
delayed or absent thelarche
gynecomastia (in untreated males)

Skin Nails Hair Hair:
near-normal pubic hair


Clinical features from OMIM:

614837

Human phenotypes related to Hypogonadotropic Hypogonadism 8 with or Without Anosmia:

32 (show all 11)
# Description HPO Frequency HPO Source Accession
1 osteopenia 32 HP:0000938
2 delayed skeletal maturation 32 HP:0002750
3 cryptorchidism 32 HP:0000028
4 primary amenorrhea 32 HP:0000786
5 hypogonadotrophic hypogonadism 32 HP:0000044
6 decreased testicular size 32 HP:0008734
7 azoospermia 32 HP:0000027
8 gynecomastia 32 HP:0000771
9 anosmia 32 occasional (7.5%) HP:0000458
10 micropenis 32 HP:0000054
11 hypoplasia of the uterus 32 HP:0000013

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 8 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 8 with or Without Anosmia 29 KISS1R

Anatomical Context for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 8 with or Without Anosmia:

41
Pituitary, Olfactory Bulb, Uterus, Bone, Testes, Ovary

Publications for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 8 with or Without Anosmia:

75
# Symbol AA change Variation ID SNP ID
1 KISS1R p.Leu148Ser VAR_021392 rs28939719
2 KISS1R p.Cys223Arg VAR_021393
3 KISS1R p.Arg297Leu VAR_021394 rs144670595
4 KISS1R p.Leu102Pro VAR_043906 rs104894703
5 KISS1R p.Ala189Thr VAR_069961 rs73507527
6 KISS1R p.Ala194Asp VAR_069962 rs397514699
7 KISS1R p.Ser262Leu VAR_072975 rs745580229

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 8 with or Without Anosmia:

6
(show all 13)
# Gene Variation Type Significance SNP ID Assembly Location
1 KISS1R NM_032551.4(KISS1R): c.443T> C (p.Leu148Ser) single nucleotide variant Pathogenic rs28939719 GRCh37 Chromosome 19, 919563: 919563
2 KISS1R NM_032551.4(KISS1R): c.443T> C (p.Leu148Ser) single nucleotide variant Pathogenic rs28939719 GRCh38 Chromosome 19, 919563: 919563
3 KISS1R NM_032551.4(KISS1R): c.991C> T (p.Arg331Ter) single nucleotide variant Pathogenic rs104894701 GRCh37 Chromosome 19, 920542: 920542
4 KISS1R NM_032551.4(KISS1R): c.991C> T (p.Arg331Ter) single nucleotide variant Pathogenic rs104894701 GRCh38 Chromosome 19, 920542: 920542
5 KISS1R NM_032551.4(KISS1R): c.1195T> A (p.Ter399Arg) single nucleotide variant Pathogenic rs104894702 GRCh37 Chromosome 19, 920746: 920746
6 KISS1R NM_032551.4(KISS1R): c.1195T> A (p.Ter399Arg) single nucleotide variant Pathogenic rs104894702 GRCh38 Chromosome 19, 920746: 920746
7 KISS1R KISS1R, 155-BP DEL deletion Pathogenic
8 KISS1R NM_032551.4(KISS1R): c.305T> C (p.Leu102Pro) single nucleotide variant Pathogenic rs104894703 GRCh37 Chromosome 19, 918604: 918604
9 KISS1R NM_032551.4(KISS1R): c.305T> C (p.Leu102Pro) single nucleotide variant Pathogenic rs104894703 GRCh38 Chromosome 19, 918604: 918604
10 KISS1R NM_032551.4(KISS1R): c.581C> A (p.Ala194Asp) single nucleotide variant risk factor rs397514699 GRCh37 Chromosome 19, 919949: 919949
11 KISS1R NM_032551.4(KISS1R): c.581C> A (p.Ala194Asp) single nucleotide variant risk factor rs397514699 GRCh38 Chromosome 19, 919949: 919949
12 KISS1R NM_032551.4(KISS1R): c.937T> C (p.Tyr313His) single nucleotide variant Pathogenic rs587777844 GRCh38 Chromosome 19, 920488: 920488
13 KISS1R NM_032551.4(KISS1R): c.937T> C (p.Tyr313His) single nucleotide variant Pathogenic rs587777844 GRCh37 Chromosome 19, 920488: 920488

Expression for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 8 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 8 with or Without Anosmia

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