MCID: HYP523
MIFTS: 20

Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

MalaCards integrated aliases for Hypogonadotropic Hypogonadism 14 with or Without Anosmia:

Name: Hypogonadotropic Hypogonadism 14 with or Without Anosmia 57 12 75 29 6 73
Hh14 57 75
Hypogonadism, Hypogonadotropic, Type 14 with/without Anosmia 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
hypogonadotropic hypogonadism 14 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 614858
Disease Ontology 12 DOID:0090087
ICD10 33 E23.0
MeSH 44 D007006
UMLS 73 C3540450

Summaries for Hypogonadotropic Hypogonadism 14 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. (614858)

MalaCards based summary : Hypogonadotropic Hypogonadism 14 with or Without Anosmia, is also known as hh14. An important gene associated with Hypogonadotropic Hypogonadism 14 with or Without Anosmia is WDR11 (WD Repeat Domain 11). Affiliated tissues include pituitary, olfactory bulb and testes, and related phenotypes are cryptorchidism and anosmia

Disease Ontology : 12 A hypogonadotropic hypogonadism that has material basis in heterozygous mutation in the WDR11 gene on chromosome 10q26.\n

UniProtKB/Swiss-Prot : 75 Hypogonadotropic hypogonadism 14 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 14 with or Without Anosmia

Symptoms & Phenotypes for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Nose:
anosmia (in some patients)

Genitourinary:
delayed or absent puberty

Genitourinary Internal Genitalia Female:
primary amenorrhea

Endocrine Features:
patients have normal pituitary function
delayed or absent puberty
low testosterone levels in males
low estradiol levels in females
low or normal serum gonadotropins

Chest Breasts:
delayed or absent thelarche

GenitourinaryInternal GenitaliaMale:
small testes (in some patients)
cryptorchidism (in some patients)

Neurologic Central Nervous System:
anosmia (in some patients)


Clinical features from OMIM:

614858

Human phenotypes related to Hypogonadotropic Hypogonadism 14 with or Without Anosmia:

32
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 occasional (7.5%) HP:0000028
2 anosmia 32 occasional (7.5%) HP:0000458
3 primary amenorrhea 32 HP:0000786
4 decreased testicular size 32 occasional (7.5%) HP:0008734

Drugs & Therapeutics for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Search Clinical Trials , NIH Clinical Center for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Genetic Tests for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Genetic tests related to Hypogonadotropic Hypogonadism 14 with or Without Anosmia:

# Genetic test Affiliating Genes
1 Hypogonadotropic Hypogonadism 14 with or Without Anosmia 29 WDR11

Anatomical Context for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

MalaCards organs/tissues related to Hypogonadotropic Hypogonadism 14 with or Without Anosmia:

41
Pituitary, Olfactory Bulb, Testes

Publications for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Variations for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

UniProtKB/Swiss-Prot genetic disease variations for Hypogonadotropic Hypogonadism 14 with or Without Anosmia:

75
# Symbol AA change Variation ID SNP ID
1 WDR11 p.Arg395Trp VAR_069194 rs201051480
2 WDR11 p.Ala435Thr VAR_069195 rs318240760
3 WDR11 p.Arg448Gln VAR_069196 rs144440500
4 WDR11 p.His690Gln VAR_069197 rs318240761
5 WDR11 p.Phe1150Leu VAR_069199 rs139007744

ClinVar genetic disease variations for Hypogonadotropic Hypogonadism 14 with or Without Anosmia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 WDR11 WDR11, PHE1150LEU single nucleotide variant Pathogenic
2 WDR11 NM_018117.11(WDR11): c.1303G> A (p.Ala435Thr) single nucleotide variant Pathogenic rs318240760 GRCh37 Chromosome 10, 122630690: 122630690
3 WDR11 NM_018117.11(WDR11): c.1303G> A (p.Ala435Thr) single nucleotide variant Pathogenic rs318240760 GRCh38 Chromosome 10, 120871178: 120871178

Expression for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Search GEO for disease gene expression data for Hypogonadotropic Hypogonadism 14 with or Without Anosmia.

Pathways for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

GO Terms for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Sources for Hypogonadotropic Hypogonadism 14 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
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