HH22
MCID: HYP590
MIFTS: 22

Hypogonadotropic Hypogonadism with or Without Anosmia (HH22) malady

Categories: Genetic diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism with or Without Anosmia

Aliases & Descriptions for Hypogonadotropic Hypogonadism with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism with or Without Anosmia 54 29
Hypogonadotropic Hypogonadism 22 with or Without Anosmia 66 29 69
Hh22 66

Characteristics:

HPO:

32
hypogonadotropic hypogonadism with or without anosmia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 54 616030
MedGen 40 CN219577
MeSH 42 D007006

Summaries for Hypogonadotropic Hypogonadism with or Without Anosmia

OMIM : 54 Congenital idiopathic hypogonadotropic hypogonadism (IHH) is a disorder characterized by absent or incomplete sexual... (616030) more...

MalaCards based summary : Hypogonadotropic Hypogonadism with or Without Anosmia, also known as hypogonadotropic hypogonadism 22 with or without anosmia, is related to hypogonadotropic hypogonadism 2 with or without anosmia and hypogonadotropic hypogonadism 9 with or without anosmia, and has symptoms including anosmia, cryptorchidism and primary amenorrhea. An important gene associated with Hypogonadotropic Hypogonadism with or Without Anosmia is FEZF1 (FEZ Family Zinc Finger 1). The drug Hormones has been mentioned in the context of this disorder. Affiliated tissues include pituitary and olfactory bulb.

UniProtKB/Swiss-Prot : 66 Hypogonadotropic hypogonadism 22 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 with or Without Anosmia

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

(show all 21)
id Related Disease Score Top Affiliating Genes
1 hypogonadotropic hypogonadism 2 with or without anosmia 11.4
2 hypogonadotropic hypogonadism 9 with or without anosmia 11.3
3 hypogonadotropic hypogonadism 6 with or without anosmia 11.3
4 hypogonadotropic hypogonadism 14 with or without anosmia 11.3
5 hypogonadotropic hypogonadism 10 with or without anosmia 11.3
6 hypogonadotropic hypogonadism 13 with or without anosmia 11.3
7 hypogonadotropic hypogonadism 19 with or without anosmia 11.3
8 hypogonadotropic hypogonadism 15 with or without anosmia 11.3
9 hypogonadotropic hypogonadism 8 with or without anosmia 11.3
10 hypogonadotropic hypogonadism 4 with or without anosmia 11.3
11 hypogonadotropic hypogonadism 3 with or without anosmia 11.3
12 hypogonadotropic hypogonadism 18 with or without anosmia 11.3
13 hypogonadotropic hypogonadism 21 with anosmia 11.3
14 hypogonadotropic hypogonadism 7 without anosmia 11.3
15 hypogonadotropic hypogonadism 1 with or without anosmia 11.3
16 hypogonadotropic hypogonadism 11 with or without anosmia 11.3
17 hypogonadotropic hypogonadism 17 with or without anosmia 11.3
18 hypogonadotropic hypogonadism 16 with or without anosmia 11.3
19 hypogonadotropic hypogonadism 20 with or without anosmia 11.3
20 hypogonadotropic hypogonadism 12 with or without anosmia 11.3
21 hypogonadotropic hypogonadism 5 with or without anosmia 11.1

Graphical network of the top 20 diseases related to Hypogonadotropic Hypogonadism with or Without Anosmia:



Diseases related to Hypogonadotropic Hypogonadism with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism with or Without Anosmia

Symptoms by clinical synopsis from OMIM:

616030

Clinical features from OMIM:

616030

Human phenotypes related to Hypogonadotropic Hypogonadism with or Without Anosmia:

32 (show all 6)
id Description HPO Frequency HPO Source Accession
1 anosmia 32 HP:0000458
2 cryptorchidism 32 HP:0000028
3 primary amenorrhea 32 HP:0000786
4 hypogonadism 32 HP:0000135
5 decreased testicular size 32 HP:0008734
6 micropenis 32 HP:0000054

UMLS symptoms related to Hypogonadotropic Hypogonadism with or Without Anosmia:


anosmia

Drugs & Therapeutics for Hypogonadotropic Hypogonadism with or Without Anosmia

Drugs for Hypogonadotropic Hypogonadism with or Without Anosmia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Hormones

Interventional clinical trials:


id Name Status NCT ID Phase
1 Investigation of the Genetic Causes of Kallmann Syndrome and Reproductive Disorders Recruiting NCT00494169
2 The Genetic Investigation of Reproductive Disorders (Including Kallmann Syndrome) Recruiting NCT01601171
3 Detailed Clinical, Biochemical and Genetic Characterization in Gonadotropin-releasing Hormone (GnRH) Deficiency Disorders Terminated NCT01165619

Search NIH Clinical Center for Hypogonadotropic Hypogonadism with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism with or Without Anosmia:

id Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 22 with or Without Anosmia 29
2 Hypogonadotropic Hypogonadism with or Without Anosmia 29

Anatomical Context for Hypogonadotropic Hypogonadism with or Without Anosmia

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

39
Pituitary, Olfactory Bulb

Publications for Hypogonadotropic Hypogonadism with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism with or Without Anosmia

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

66
id Symbol AA change Variation ID SNP ID
1 FEZF1 p.His278Tyr VAR_071918 rs587777739

Expression for Hypogonadotropic Hypogonadism with or Without Anosmia

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

Pathways for Hypogonadotropic Hypogonadism with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism with or Without Anosmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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