MCID: HYP444
MIFTS: 20

Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Categories: Genetic diseases, Endocrine 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 57 12 75 29 13 6
Hh9 57 75
Hypogonadism, Hypogonadotropic, Type 9 with/without Anosmia 40

Characteristics:

OMIM:

57
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:

32
hypogonadotropic hypogonadism 9 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614838
Disease Ontology 12 DOID:0090085
ICD10 33 E23.0
MeSH 44 D007006

Summaries for Hypogonadotropic Hypogonadism 9 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, 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 hypogonadotrophic hypogonadism and micropenis

UniProtKB/Swiss-Prot : 75 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).

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.

Related Diseases for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
small testes

Head And Neck Nose:
hyposmia or anosmia


Clinical features from OMIM:

614838

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

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypogonadotrophic hypogonadism 32 HP:0000044
2 micropenis 32 HP:0000054
3 cleft palate 32 HP:0000175
4 anosmia 32 occasional (7.5%) HP:0000458
5 gynecomastia 32 HP:0000771
6 osteoporosis 32 HP:0000939
7 decreased testicular size 32 HP:0008734
8 clinodactyly 32 HP:0030084
9 cleft lip 32 HP:0410030

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 29 NSMF

Anatomical Context for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

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

41
Pituitary, Olfactory Bulb, Testes

Publications for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

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

75
# 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
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....