MCID: HYP552
MIFTS: 23

Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 6 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 6 with or Without Anosmia 57 12 75 13
Kallmann Syndrome 6 75 73
Hh6 57 75
Hypogonadotropic Hypogonadism, Type 6 with/without Anosmia 40
Kal6 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
intrafamilial phenotypic variability


HPO:

32
hypogonadotropic hypogonadism 6 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 612702
Disease Ontology 12 DOID:0090086
ICD10 33 E23.0
MeSH 44 D017436
UMLS 73 C2675188

Summaries for Hypogonadotropic Hypogonadism 6 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. (612702)

MalaCards based summary : Hypogonadotropic Hypogonadism 6 with or Without Anosmia, also known as kallmann syndrome 6, is related to kallmann syndrome 6. An important gene associated with Hypogonadotropic Hypogonadism 6 with or Without Anosmia is FGF8 (Fibroblast Growth Factor 8). Affiliated tissues include pituitary, olfactory bulb and bone, and related phenotypes are high palate and delayed skeletal maturation

Disease Ontology : 12 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has material basis in heterozygous mutation in the FGF8 gene on chromosome 10q24, sometimes in association with mutation in another gene.

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 6 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 6 with or Without Anosmia

Diseases related to Hypogonadotropic Hypogonadism 6 with or Without Anosmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 kallmann syndrome 6 12.1

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Genitourinary Internal Genitalia Female:
primary amenorrhea
small ovaries
prepubertal uterus

Neurologic Central Nervous System:
small pituitary gland
partial empty sella
hypoplastic olfactory bulbs and tracts (in some patients)

Skeletal:
delayed bone age
low bone density

GenitourinaryInternal GenitaliaMale:
undescended testes
low testicular volume

Chest Breasts:
no breast development

Skeletal Hands:
hyperlaxity of digits

Genitourinary External Genitalia Male:
hypogonadism
micropenis

Head And Neck Mouth:
high-arched palate
cleft lip and palate

Endocrine Features:
delayed or absent puberty
low or undetectable serum estradiol (e2) levels
apulsatile luteinizing hormone (lh) secretion pattern
undetectable lh levels
low or undetectable follicle-stimulating hormone (fsh) levels
more
Head And Neck Nose:
anosmia (in some patients)
hyposmia (in some patients)

Skeletal Limbs:
eunuchoidal proportions


Clinical features from OMIM:

612702

Human phenotypes related to Hypogonadotropic Hypogonadism 6 with or Without Anosmia:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
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 anosmia 32 occasional (7.5%) HP:0000458
7 hyposmia 32 occasional (7.5%) HP:0004409
8 micropenis 32 HP:0000054
9 small pituitary gland 32 HP:0012506

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Anatomical Context for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 6 with or Without Anosmia:

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

Publications for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 6 with or Without Anosmia:

75
# Symbol AA change Variation ID SNP ID
1 FGF8 p.His14Asn VAR_057962 rs137852659
2 FGF8 p.Pro26Leu VAR_057963 rs137852660
3 FGF8 p.Phe40Leu VAR_057964 rs137852661
4 FGF8 p.Lys89Glu VAR_057965 rs137852662
5 FGF8 p.Arg116Gly VAR_057966 rs137852663
6 FGF8 p.Thr218Met VAR_057967 rs137852664

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 6 with or Without Anosmia:

6
(show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 FGF8 NM_033163.3(FGF8): c.40C> A (p.His14Asn) single nucleotide variant Pathogenic rs137852659 GRCh37 Chromosome 10, 103535526: 103535526
2 FGF8 NM_033163.3(FGF8): c.40C> A (p.His14Asn) single nucleotide variant Pathogenic rs137852659 GRCh38 Chromosome 10, 101775769: 101775769
3 FGF8 NM_033163.3(FGF8): c.118T> C (p.Phe40Leu) single nucleotide variant Pathogenic rs137852661 GRCh37 Chromosome 10, 103534925: 103534925
4 FGF8 NM_033163.3(FGF8): c.118T> C (p.Phe40Leu) single nucleotide variant Pathogenic rs137852661 GRCh38 Chromosome 10, 101775168: 101775168
5 FGF8 NM_033163.3(FGF8): c.298A> G (p.Lys100Glu) single nucleotide variant Pathogenic rs137852662 GRCh37 Chromosome 10, 103534528: 103534528
6 FGF8 NM_033163.3(FGF8): c.298A> G (p.Lys100Glu) single nucleotide variant Pathogenic rs137852662 GRCh38 Chromosome 10, 101774771: 101774771
7 FGF8 NM_033163.3(FGF8): c.379C> G (p.Arg127Gly) single nucleotide variant Pathogenic rs137852663 GRCh37 Chromosome 10, 103531285: 103531285
8 FGF8 NM_033163.3(FGF8): c.379C> G (p.Arg127Gly) single nucleotide variant Pathogenic rs137852663 GRCh38 Chromosome 10, 101771528: 101771528
9 FGF8 NM_033163.3(FGF8): c.451G> A (p.Gly151Ser) single nucleotide variant Likely pathogenic rs606231407 GRCh38 Chromosome 10, 101770613: 101770613
10 FGF8 NM_033163.3(FGF8): c.451G> A (p.Gly151Ser) single nucleotide variant Likely pathogenic rs606231407 GRCh37 Chromosome 10, 103530370: 103530370
11 FGF8 NM_033163.3(FGF8): c.237C> G (p.Leu79=) single nucleotide variant Likely pathogenic rs606231408 GRCh38 Chromosome 10, 101774832: 101774832
12 FGF8 NM_033163.3(FGF8): c.237C> G (p.Leu79=) single nucleotide variant Likely pathogenic rs606231408 GRCh37 Chromosome 10, 103534589: 103534589
13 FGF8 NM_033163.3(FGF8): c.628_629dup (p.His211Alafs) duplication Likely pathogenic GRCh38 Chromosome 10, 101770435: 101770436
14 FGF8 NM_033163.3(FGF8): c.628_629dup (p.His211Alafs) duplication Likely pathogenic GRCh37 Chromosome 10, 103530192: 103530193

Expression for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 6 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 6 with or Without Anosmia

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74 UMLS via Orphanet
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