MCID: HYP817
MIFTS: 20

Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 21 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 21 with or Without Anosmia 57 12 75 29 6 73
Hh21 57 75
Hypogonadotropic Hypogonadism 21 with Anosmia, Susceptibility to 6
Hypogonadism, Hypogonadotropic, Type 21 with/without Anosmia 40
Hypogonadotropic Hypogonadism 21 with Anosmia 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant (see miscellaneous below)

Miscellaneous:
phenotypic variability within families and among patients carrying the same mutation appears to be due to the oligogenic nature of the disorder, with some patients having mutations in more than 1 neuroendocrine-related gene


HPO:

32
hypogonadotropic hypogonadism 21 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 615271
Disease Ontology 12 DOID:0090093
ICD10 33 E23.0
MeSH 44 D007006
UMLS 73 C3808986

Summaries for Hypogonadotropic Hypogonadism 21 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. (615271)

MalaCards based summary : Hypogonadotropic Hypogonadism 21 with or Without Anosmia, is also known as hh21. An important gene associated with Hypogonadotropic Hypogonadism 21 with or Without Anosmia is FLRT3 (Fibronectin Leucine Rich Transmembrane Protein 3). Affiliated tissues include pituitary and olfactory bulb, and related phenotypes are hearing impairment and osteopenia

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the FLRT3 gene on 20p11, sometimes in association with mutations in other genes.

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 21 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 21 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
hearing loss (in some patients)

Head And Neck Mouth:
cleft lip and/or palate (in some patients)

Skeletal:
osteopenia (in some patients)
osteoporosis (in some patients)
fractures (in some patients)

Endocrine Features:
delayed or absent puberty

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

Genitourinary:
delayed or absent puberty

Neurologic Central Nervous System:
hyposmia/anosmia (in some patients)


Clinical features from OMIM:

615271

Human phenotypes related to Hypogonadotropic Hypogonadism 21 with or Without Anosmia:

32
# Description HPO Frequency HPO Source Accession
1 hearing impairment 32 occasional (7.5%) HP:0000365
2 osteopenia 32 occasional (7.5%) HP:0000938
3 osteoporosis 32 occasional (7.5%) HP:0000939

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 21 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 21 with or Without Anosmia 29 FLRT3

Anatomical Context for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 21 with or Without Anosmia:

41
Pituitary, Olfactory Bulb

Publications for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 21 with or Without Anosmia:

75
# Symbol AA change Variation ID SNP ID
1 FLRT3 p.Gln69Lys VAR_069950 rs398124653
2 FLRT3 p.Glu97Gly VAR_069951 rs398124651
3 FLRT3 p.Ser144Ile VAR_069952 rs398124652
4 FLRT3 p.Lys339Arg VAR_069953 rs398124654

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 21 with or Without Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 FLRT3 NM_013281.3(FLRT3): c.290A> G (p.Glu97Gly) single nucleotide variant risk factor rs398124651 GRCh37 Chromosome 20, 14307863: 14307863
2 FLRT3 NM_013281.3(FLRT3): c.290A> G (p.Glu97Gly) single nucleotide variant risk factor rs398124651 GRCh38 Chromosome 20, 14327217: 14327217
3 FLRT3 NM_013281.3(FLRT3): c.431G> T (p.Ser144Ile) single nucleotide variant risk factor rs398124652 GRCh37 Chromosome 20, 14307722: 14307722
4 FLRT3 NM_013281.3(FLRT3): c.431G> T (p.Ser144Ile) single nucleotide variant risk factor rs398124652 GRCh38 Chromosome 20, 14327076: 14327076
5 FLRT3 NM_013281.3(FLRT3): c.205C> A (p.Gln69Lys) single nucleotide variant risk factor rs398124653 GRCh37 Chromosome 20, 14307948: 14307948
6 FLRT3 NM_013281.3(FLRT3): c.205C> A (p.Gln69Lys) single nucleotide variant risk factor rs398124653 GRCh38 Chromosome 20, 14327302: 14327302
7 FLRT3 NM_013281.3(FLRT3): c.1016A> G (p.Lys339Arg) single nucleotide variant Pathogenic rs398124654 GRCh37 Chromosome 20, 14307137: 14307137
8 FLRT3 NM_013281.3(FLRT3): c.1016A> G (p.Lys339Arg) single nucleotide variant Pathogenic rs398124654 GRCh38 Chromosome 20, 14326491: 14326491

Expression for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 21 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 21 with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....