HH22
MCID: HYP820
MIFTS: 22

Hypogonadotropic Hypogonadism 22 with or Without Anosmia (HH22)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Smell/Taste diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 22 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 22 with or Without Anosmia 58 12 76 30 74
Hh22 58 76
Hypogonadism, Hypogonadotropic, Type 22 with/without Anosmia 41
Hypogonadotropic Hypogonadism 22, with or Without Anosmia 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
hypogonadotropic hypogonadism 22 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090081
OMIM 58 616030
MeSH 45 D007006
ICD10 34 E23.0
UMLS 74 C4014988

Summaries for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

OMIM : 58 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 is 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. (616030)

MalaCards based summary : Hypogonadotropic Hypogonadism 22 with or Without Anosmia, is also known as hh22. An important gene associated with Hypogonadotropic Hypogonadism 22 with or Without Anosmia is FEZF1 (FEZ Family Zinc Finger 1). Affiliated tissues include pituitary, olfactory bulb and testes, and related phenotypes are cryptorchidism and primary amenorrhea

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in homozygous mutation in the FEZF1 gene on chromosome 7q31.

UniProtKB/Swiss-Prot : 76 Hypogonadotropic hypogonadism 22 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 22 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 22 with or Without Anosmia:

33 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 33 HP:0000028
2 primary amenorrhea 33 HP:0000786
3 hypogonadism 33 HP:0000135
4 decreased testicular size 33 HP:0008734
5 micropenis 33 HP:0000054
6 anosmia 33 HP:0000458

Symptoms via clinical synopsis from OMIM:

58
Genitourinary Internal Genitalia Male:
cryptorchidism
small testes

Genitourinary External Genitalia Male:
micropenis

Chest Breasts:
delayed or absent thelarche

Endocrine Features:
delayed or absent puberty
low estradiol levels in females
low testosterone levels in males
low follicle-stimulating hormone (fsh)
low luteinizing hormone (lh)

Genitourinary Internal Genitalia Female:
primary amenorrhea

Head And Neck Nose:
anosmia

Genitourinary:
delayed or absent puberty

Neurologic Central Nervous System:
aplasia of olfactory bulbs, bilateral

Clinical features from OMIM:

616030

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 22 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 30 FEZF1

Anatomical Context for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 22 with or Without Anosmia:

42
Pituitary, Olfactory Bulb, Testes

Publications for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 22 with or Without Anosmia:

76
# Symbol AA change Variation ID SNP ID
1 FEZF1 p.His278Tyr VAR_071918 rs587777739

Expression for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 22 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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