HH22
MCID: HYP820
MIFTS: 24

Hypogonadotropic Hypogonadism 22 with or Without Anosmia (HH22)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 57 12 72 29 70
Hh22 57 72
Hypogonadism, Hypogonadotropic, Type 22 with/without Anosmia 39
Hypogonadotropic Hypogonadism 22, with or Without Anosmia 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
hypogonadotropic hypogonadism 22 with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090081
OMIM® 57 616030
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 C4014988

Summaries for Hypogonadotropic Hypogonadism 22 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 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) (Updated 20-May-2021)

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, testes and bone, 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 : 72 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:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 HP:0000028
2 primary amenorrhea 31 HP:0000786
3 micropenis 31 HP:0000054
4 anosmia 31 HP:0000458
5 decreased testicular size 31 HP:0008734
6 hypogonadism 31 HP:0000135

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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 29 FEZF1

Anatomical Context for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

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

40
Pituitary, Testes, Bone, Heart

Publications for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 22 with or Without Anosmia:

(show all 31)
# Title Authors PMID Year
1
Mutations in FEZF1 cause Kallmann syndrome. 57
25192046 2014
2
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
3
miR-199 family contributes to regulation of sonic hedgehog expression during craniofacial development. 61
32391617 2020
4
Inhibition of Wnt/β-catenin pathway by Dickkopf-1 [corrected] affects midfacial morphogenesis in chick embryo. 61
24378667 2014
5
The transcription factor chicken Scratch2 is expressed in a subset of early postmitotic neural progenitors. 61
23570883 2013
6
Gene transfer into older chicken embryos by ex ovo electroporation. 61
22872055 2012
7
Comparative genomic analysis reveals significant enrichment of mobile genetic elements and genes encoding surface structure-proteins in hospital-associated clonal complex 2 Enterococcus faecalis. 61
21205308 2011
8
In vivo antibacterial activity of vertilmicin, a new aminoglycoside antibiotic. 61
19635958 2009
9
Early pretectal gene expression pattern shows a conserved anteroposterior tripartition in mouse and chicken. 61
18331887 2008
10
Signaling by bone morphogenetic proteins directs formation of an ectodermal signaling center that regulates craniofacial development. 61
18028903 2007
11
Evaluation of ceftobiprole medocaril against Enterococcus faecalis in a mouse peritonitis model. 61
17606481 2007
12
The competency of foregut mesenchyme in islet mesenchyme-to-epithelial transition during embryonic development. 61
16481249 2006
13
Expression of bone morphogenetic protein-10 mRNA during chicken heart development. 61
15224399 2004
14
The keratocan gene is expressed in both ocular and non-ocular tissues during early chick development. 61
12935817 2003
15
Contractile regulatory proteins tropomyosin and troponin-T as indicators of the modulatory role of retinoic acid. 61
14605492 2003
16
Nature of transposon-mediated high-level gentamicin resistance in Enterococcus faecalis isolated in the United Kingdom. 61
10797076 2000
17
Immunohistochemical evidence for a mesothelial contribution to the ventral wall of the avian aorta. 61
10661320 1999
18
Plasmid heterogeneity and identification of a Tn5281-like element in clinical isolates of high-level gentamicin-resistant Enterococcus faecium isolated in the UK. 61
10382883 1999
19
Modulation of alpha-actin and alpha-actinin proteins in cardiomyocytes by retinoic acid during development. 61
10352886 1999
20
Comparison of the beta-lactamase gene cluster in clonally distinct strains of Enterococcus faecalis. 61
8723460 1996
21
Insertions of IS256-like element flanking the chromosomal beta-lactamase gene of Enterococcus faecalis CX19. 61
8031032 1994
22
Genes involved in the regulation of beta-lactamase production in enterococci and staphylococci. 61
8239614 1993
23
Comparison of high-level gentamicin-resistant Enterococcus faecium isolates from different continents. 61
8098597 1993
24
Sequence analysis of the beta-lactamase repressor from Staphylococcus aureus and hybridization studies with two beta-lactamase-producing isolates of Enterococcus faecalis. 61
1444307 1992
25
Comparison of the gentamicin resistance transposon Tn5281 with regions encoding gentamicin resistance in Enterococcus faecalis isolates from diverse geographic locations. 61
1332593 1992
26
Comparison of enterococcal and staphylococcal beta-lactamase-encoding fragments. 61
1318675 1992
27
Nucleotide sequence of the beta-lactamase gene from Enterococcus faecalis HH22 and its similarity to staphylococcal beta-lactamase genes. 61
1952840 1991
28
Chemoprophylactic efficacy against experimental endocarditis caused by beta-lactamase-producing, aminoglycoside-resistant enterococci is associated with prolonged serum inhibitory activity. 61
2118323 1990
29
Modification of homogeneous resistance in a methicillin-resistant strain of Staphylococcus aureus by acquisition of a beta-lactamase encoding plasmid. 61
2499563 1989
30
Plasmids and pheromone response of the beta-lactamase producer Streptococcus (Enterococcus) faecalis HH22. 61
3132094 1988
31
Comparison of two beta-lactamase-producing strains of Streptococcus faecalis. 61
3028251 1986

Variations for Hypogonadotropic Hypogonadism 22 with or Without Anosmia

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

72
# 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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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