HH9
MCID: HYP444
MIFTS: 24

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 56 12 73 29 13 6
Hh9 56 73
Hypogonadism, Hypogonadotropic, Type 9 with/without Anosmia 39

Characteristics:

OMIM:

56
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:

31
hypogonadotropic hypogonadism 9 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090085
OMIM 56 614838
OMIM Phenotypic Series 56 PS147950
MeSH 43 D007006
ICD10 32 E23.0

Summaries for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

OMIM : 56 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 : 73 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:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 anosmia 31 occasional (7.5%) HP:0000458
2 clinodactyly 31 HP:0030084
3 osteoporosis 31 HP:0000939
4 cleft palate 31 HP:0000175
5 hypogonadotrophic hypogonadism 31 HP:0000044
6 decreased testicular size 31 HP:0008734
7 micropenis 31 HP:0000054
8 gynecomastia 31 HP:0000771
9 hyposmia 31 HP:0004409
10 cleft lip 31 HP:0410030

Symptoms via clinical synopsis from OMIM:

56
Skeletal Hands:
clinodactyly

Head And Neck Mouth:
cleft palate
cleft lip

Chest Breasts:
gynecomastia

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

Skeletal Limbs:
eunuchoid proportions

Skeletal:
osteoporosis

Genitourinary External Genitalia Male:
micropenis

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 29 NSMF

Anatomical Context for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

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

40
Pituitary, Olfactory Bulb, Testes

Publications for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 9 with or Without Anosmia:

# Title Authors PMID Year
1
Heparan sulfate 6-O-sulfotransferase 1, a gene involved in extracellular sugar modifications, is mutated in patients with idiopathic hypogonadotrophic hypogonadism. 6 56
21700882 2011
2
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism. 6 56
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). 56 6
15362570 2004
4
Reversal of idiopathic hypogonadotropic hypogonadism. 56
17761590 2007
5
Isolated Gonadotropin-Releasing Hormone (GnRH) Deficiency 6
20301509 2007

Variations for Hypogonadotropic Hypogonadism 9 with or Without Anosmia

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

6 ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NSMF NM_015537.4(NSMF):c.1432A>G (p.Thr478Ala)SNV risk factor 2524 rs121918340 9:140344108-140344108 9:137449656-137449656
2 NSMF NM_015537.4(NSMF):c.1126-23_1126-15deldeletion risk factor 2525 rs606231136 9:140347053-140347061 9:137452601-137452609

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

73
# Symbol AA change Variation ID SNP ID
1 NSMF p.Thr480Ala VAR_023003 rs121918340
2 NSMF p.Arg196His VAR_069967 rs770597015

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 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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