HH14
MCID: HYP523
MIFTS: 29

Hypogonadotropic Hypogonadism 14 with or Without Anosmia (HH14)

Categories: Cardiovascular diseases, Ear diseases, Endocrine diseases, Fetal diseases, Genetic diseases, Rare diseases, Reproductive 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 72 29 6 15 70
Hh14 57 72
Hypogonadism, Hypogonadotropic, Type 14 with/without Anosmia 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
hypogonadotropic hypogonadism 14 with or without anosmia:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0090087
OMIM® 57 614858
OMIM Phenotypic Series 57 PS147950
MeSH 44 D007006
ICD10 32 E23.0
UMLS 70 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) (Updated 20-May-2021)

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, testes and eye, 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.

UniProtKB/Swiss-Prot : 72 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

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

31
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 31 occasional (7.5%) HP:0000028
2 anosmia 31 occasional (7.5%) HP:0000458
3 decreased testicular size 31 occasional (7.5%) HP:0008734
4 primary amenorrhea 31 HP:0000786

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Genitourinary Internal Genitalia Female:
primary amenorrhea

Chest Breasts:
delayed or absent thelarche

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

Neurologic Central Nervous System:
anosmia (in some patients)

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)
small testes (in some patients)

Genitourinary:
delayed or absent puberty

Head And Neck Nose:
anosmia (in some patients)

Clinical features from OMIM®:

614858 (Updated 20-May-2021)

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:

40
Pituitary, Testes, Eye, Heart, Bone, Brain

Publications for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

Articles related to Hypogonadotropic Hypogonadism 14 with or Without Anosmia:

(show all 28)
# Title Authors PMID Year
1
WDR11, a WD protein that interacts with transcription factor EMX1, is mutated in idiopathic hypogonadotropic hypogonadism and Kallmann syndrome. 6 57
20887964 2010
2
Reversal of idiopathic hypogonadotropic hypogonadism. 57
17761590 2007
3
Clinical and molecular characterization of a large sample of patients with hypogonadotropic hypogonadism. 57
16500342 2006
4
Kallmann syndrome in a boy with a t(1;10) translocation detected by reverse chromosome painting. 57
8825924 1995
5
Chicken embryos share mammalian patterns of apoptosis in the posterior placodal area. 61
30734277 2019
6
Isolation, characterization and germline chimera preparation of primordial germ cells from the Chinese Meiling chicken. 61
30203087 2019
7
Tissue growth constrained by extracellular matrix drives invagination during optic cup morphogenesis. 61
26984743 2016
8
SDF-1 controls the muscle and blood vessel formation of the somite. 61
26934287 2016
9
Chicken trunk neural crest migration visualized with HNK1. 61
25805416 2015
10
The Rst-Neph family of cell adhesion molecules in Gallus gallus. 61
24914768 2014
11
Chicken primordial germ cells use the anterior vitelline veins to enter the embryonic circulation. 61
23213395 2012
12
BMP signaling modulates hedgehog-induced secondary heart field proliferation. 61
20920499 2010
13
Isolation and culture of avian embryonic valvular progenitor cells. 61
21085095 2010
14
Retinoic acid is a negative physiological regulator of N-cadherin during early avian heart morphogenesis. 61
19843154 2009
15
Competence, specification and commitment to an olfactory placode fate. 61
19029046 2008
16
Early mammillary pouch specification in the course of prechordal ventralization of the forebrain tegmentum. 61
18597750 2008
17
Pattern of Wnt ligand expression during chick eye development. 61
17713656 2007
18
Expression of Lrrn1 marks the prospective site of the zona limitans thalami in the early embryonic chicken diencephalon. 61
16631417 2006
19
Ablation of the secondary heart field leads to tetralogy of Fallot and pulmonary atresia. 61
15950213 2005
20
Expression of bone morphogenetic protein-10 mRNA during chicken heart development. 61
15224399 2004
21
Distinct activities of Msx1 and Msx3 in dorsal neural tube development. 61
14973289 2004
22
Evidence for an extracellular matrix bridge guiding proepicardial cell migration to the myocardium of chick embryos. 61
12889060 2003
23
The myth of ventrally emigrating neural tube (VENT) cells and their contribution to the developing cardiovascular system. 61
12649731 2003
24
Temporal sequence of gene expression leading caudal prosencephalon to develop a midbrain/hindbrain phenotype. 61
11803577 2002
25
The caudal limit of Otx2 gene expression as a marker of the midbrain/hindbrain boundary: a study using in situ hybridisation and chick/quail homotopic grafts. 61
9012500 1996
26
Initial tract formation in the brain of the chick embryo: selective expression of the BEN/SC1/DM-GRASP cell adhesion molecule. 61
7757257 1995
27
Three monoclonal antibodies differentiate human from murine epidermis. 61
8343851 1993
28
Macrophage-like cells in the presumptive optic pathways in the floor of the diencephalon of the chick embryo. 61
2292715 1990

Variations for Hypogonadotropic Hypogonadism 14 with or Without Anosmia

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

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 WDR11 F1150L SNV Pathogenic 37308 GRCh37:
GRCh38:
2 WDR11 NM_018117.12(WDR11):c.1303G>A (p.Ala435Thr) SNV Pathogenic 37309 rs318240760 GRCh37: 10:122630690-122630690
GRCh38: 10:120871178-120871178
3 WDR11 NM_018117.12(WDR11):c.1849G>T (p.Glu617Ter) SNV Likely pathogenic 928566 GRCh37: 10:122645326-122645326
GRCh38: 10:120885814-120885814
4 WDR11 NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) SNV Uncertain significance 68842 rs139007744 GRCh37: 10:122666300-122666300
GRCh38: 10:120906788-120906788

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

72
# 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
6 WDR11 p.Pro537Leu VAR_080856 rs761599645

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 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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