HH9
MCID: HYP444
MIFTS: 25

Hypogonadotropic Hypogonadism 9 with or Without Anosmia (HH9)

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

Aliases & Classifications for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 9 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 9 with or Without Anosmia 58 12 76 30 13 6
Hh9 58 76
Hypogonadism, Hypogonadotropic, Type 9 with/without Anosmia 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
based on report of 3 unrelated patients, 2 of whom also had mutations in other known hypogonadotropic hypogonadism-associated genes (fgfr1, )


HPO:

33
hypogonadotropic hypogonadism 9 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090085
OMIM 58 614838
MeSH 45 D007006
ICD10 34 E23.0

Summaries for Hypogonadotropic Hypogonadism 9 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 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. (614838)

MalaCards based summary : Hypogonadotropic Hypogonadism 9 with or Without Anosmia, is also known as hh9. An important gene associated with Hypogonadotropic Hypogonadism 9 with or Without Anosmia is NSMF (NMDA Receptor Synaptonuclear Signaling And Neuronal Migration Factor). Affiliated tissues include pituitary, olfactory bulb and testes, and related phenotypes are anosmia and clinodactyly

Disease Ontology : 12 A hypogonadotropic hypogonadism that is characterized by autosomal dominant inheritance and has material basis in heterozygous mutation in the NELF gene on chromosome 9q34, sometimes in association with mutation in another gene.

UniProtKB/Swiss-Prot : 76 Hypogonadotropic hypogonadism 9 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 9 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Human phenotypes related to Hypogonadotropic Hypogonadism 9 with or Without Anosmia:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 anosmia 33 occasional (7.5%) HP:0000458
2 clinodactyly 33 HP:0030084
3 osteoporosis 33 HP:0000939
4 cleft palate 33 HP:0000175
5 hypogonadotrophic hypogonadism 33 HP:0000044
6 decreased testicular size 33 HP:0008734
7 gynecomastia 33 HP:0000771
8 micropenis 33 HP:0000054
9 cleft lip 33 HP:0410030

Symptoms via clinical synopsis from OMIM:

58
Skeletal Hands:
clinodactyly

Head And Neck Mouth:
cleft palate
cleft lip

Genitourinary External Genitalia Male:
micropenis

Endocrine Features:
delayed or absent puberty
low testosterone
low inhibin b levels
low or undetectable gonadotropin levels

Skeletal Limbs:
eunuchoid proportions

Skeletal:
osteoporosis

Chest Breasts:
gynecomastia

Genitourinary Internal Genitalia Male:
small testes

Head And Neck Nose:
hyposmia or anosmia

Clinical features from OMIM:

614838

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 9 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 9 with or Without Anosmia 30 NSMF

Anatomical Context for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 9 with or Without Anosmia:

42
Pituitary, Olfactory Bulb, Testes, Lymph Node

Publications for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 9 with or Without Anosmia:

# Title Authors Year
1
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. ( 21700882 )
2011
2
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. ( 17235395 )
2007
3
Characterization of the human nasal embryonic LHRH factor gene, NELF, and a mutation screening among 65 patients with idiopathic hypogonadotropic hypogonadism (IHH). ( 15362570 )
2004
4
Macrophages and T lymphocytes infiltrating the rat mammary carcinoma HH9-cl 14 in progressive and regressive tumor growth. An immunohistological study. ( 3485100 )
1986
5
Early local reaction and lymph node permeation of rat carcinoma HH9-cl 14 cells. An immunohistological approach. ( 3920647 )
1985

Variations for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 9 with or Without Anosmia:

76
# Symbol AA change Variation ID SNP ID
1 NSMF p.Thr480Ala VAR_023003 rs121918340
2 NSMF p.Arg196His VAR_069967 rs770597015

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 9 with or Without Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NSMF NM_001130969.1(NSMF): c.1438A> G (p.Thr480Ala) single nucleotide variant risk factor rs121918340 GRCh37 Chromosome 9, 140344108: 140344108
2 NSMF NM_001130969.1(NSMF): c.1438A> G (p.Thr480Ala) single nucleotide variant risk factor rs121918340 GRCh38 Chromosome 9, 137449656: 137449656
3 NSMF NM_015537.4(NSMF): c.1126-23_1126-15delTTGTGGCCT deletion risk factor rs606231136 GRCh38 Chromosome 9, 137452601: 137452609
4 NSMF NM_015537.4(NSMF): c.1126-23_1126-15delTTGTGGCCT deletion risk factor rs606231136 GRCh37 Chromosome 9, 140347053: 140347061

Expression for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 9 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

3 CDC
7 CNVD
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10 dbSNP
11 DGIdb
17 EFO
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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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