MCID: HYP547
MIFTS: 23

Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Categories: Genetic diseases, Rare diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 12 with or Without Anosmia 57 12 75 29 13 6 73
Eunuchoidism, Familial Hypogonadotropic 57 75 73
Figd 57 53 75
Gonadotropin Deficiency, Familial Idiopathic 57 75
Hh12 57 75
Hypogonadism, Hypogonadotropic, Type 12 with/without Anosmia 40
Gonadotropin Deficiency, Familial Idiopathic; Figd 57
Gonadotropin Deficiency Familial Idiopathic 53
Familial Idiopathic Gonadotrpin Deficiency 12
Familial Hypogonadotrophic Eunuchoidism 12
Eunuchoidism Familial Hypogonadotropic 53
Familial Hypogonadotropic Eunuchoidism 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
based on report of 1 family (last curated october 2014)


HPO:

32
hypogonadotropic hypogonadism 12 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Hypogonadotropic Hypogonadism 12 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. (614841)

MalaCards based summary : Hypogonadotropic Hypogonadism 12 with or Without Anosmia, is also known as eunuchoidism, familial hypogonadotropic. An important gene associated with Hypogonadotropic Hypogonadism 12 with or Without Anosmia is GNRH1 (Gonadotropin Releasing Hormone 1). Affiliated tissues include pituitary, olfactory bulb and uterus, and related phenotypes are hypoplasia of the uterus and cryptorchidism

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the GNRH1 gene on chromosome 8p21.

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 12 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 12 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
cryptorchidism
micropenis
small testes

Endocrine Features:
hypogonadotropic hypogonadism
delayed or absent puberty
low to undetectable gonadotropin levels
low testosterone level
low estradiol level

Skin Nails Hair Hair:
absence of pubic hair

Genitourinary Internal Genitalia Female:
primary amenorrhea
small uterus
small ovaries
few to no follicles on ultrasonography

Chest Breasts:
delayed or absent thelarche


Clinical features from OMIM:

614841

Human phenotypes related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

32 (show all 13)
# Description HPO Frequency HPO Source Accession
1 hypoplasia of the uterus 32 HP:0000013
2 cryptorchidism 32 HP:0000028
3 hypogonadotrophic hypogonadism 32 HP:0000044
4 micropenis 32 HP:0000054
5 anosmia 32 frequent (33%) HP:0000458
6 primary amenorrhea 32 HP:0000786
7 delayed puberty 32 HP:0000823
8 absent pubic hair 32 HP:0002555
9 decreased serum estradiol 32 HP:0008214
10 hypoplasia of the ovary 32 HP:0008724
11 decreased testicular size 32 HP:0008734
12 decreased circulating gonadotropin level 32 HP:0030339
13 decreased serum testosterone level 32 HP:0040171

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 12 with or Without Anosmia 29 GNRH1

Anatomical Context for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

41
Pituitary, Olfactory Bulb, Uterus, Ovary, Testes

Publications for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 12 with or Without Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 GNRH1 NM_001083111.1(GNRH1): c.18dupA (p.Leu7Thrfs) duplication Pathogenic rs587777758 GRCh37 Chromosome 8, 25280829: 25280829
2 GNRH1 NM_001083111.1(GNRH1): c.18dupA (p.Leu7Thrfs) duplication Pathogenic rs587777758 GRCh38 Chromosome 8, 25423313: 25423313

Expression for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 12 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 12 with or Without Anosmia

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74 UMLS via Orphanet
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