DHS
MCID: DFN313
MIFTS: 23

Deafness-Hypogonadism Syndrome (DHS)

Categories: Ear diseases, Endocrine diseases, Fetal diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Deafness-Hypogonadism Syndrome

MalaCards integrated aliases for Deafness-Hypogonadism Syndrome:

Name: Deafness-Hypogonadism Syndrome 56 58 71
Deafness Hypogonadism Syndrome 52
Dhs 56

Characteristics:

Orphanet epidemiological data:

58
deafness-hypogonadism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare infertility disorders
Rare otorhinolaryngological diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 304350
UMLS via Orphanet 72 C1844680
Orphanet 58 ORPHA90646
MedGen 41 C1844680
UMLS 71 C1844680

Summaries for Deafness-Hypogonadism Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 90646 Definition This syndrome is characterized by the association of congenital mixed hearing loss with perilymphatic gusher (Gusher syndrome or DFN3; see this term), hypogonadism and abnormal behavior. Epidemiology It has been described in five related males. Etiology Inheritance appeared to be X-linked recessive and a microdeletion, encompassing the POU3F4 gene (DFN3 locus ), was detected in one of the patients leading to the suggestion that deafness - hypogonadism is a contiguous gene deletion syndrome. Visit the Orphanet disease page for more resources.

MalaCards based summary : Deafness-Hypogonadism Syndrome, also known as deafness hypogonadism syndrome, is related to retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome and cataract-deafness-hypogonadism syndrome. Related phenotypes are delayed skeletal maturation and delayed puberty

More information from OMIM: 304350

Related Diseases for Deafness-Hypogonadism Syndrome

Diseases related to Deafness-Hypogonadism Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.3
2 cataract-deafness-hypogonadism syndrome 12.3
3 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 12.3
4 dermatitis herpetiformis 12.2
5 johnson neuroectodermal syndrome 11.9
6 dermatitis herpetiformis, familial 11.6
7 crandall syndrome 11.5
8 hereditary stomatocytosis 11.5
9 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.3
10 dehydrated hereditary stomatocytosis 2 11.2
11 hemimelia 10.4
12 generalized epilepsy with febrile seizures plus 10.3
13 allergic hypersensitivity disease 10.3
14 osteoporosis 10.2
15 bone mineral density quantitative trait locus 8 10.2
16 bone mineral density quantitative trait locus 15 10.2
17 avascular necrosis 10.2
18 branchiootic syndrome 1 10.2
19 hypogonadism 10.2
20 hypogonadotropism 10.2
21 alopecia 10.2
22 autoimmune disease 10.1
23 coxa vara 10.1
24 dermatitis 10.1
25 burkitt lymphoma 10.1
26 thrombophilia due to thrombin defect 10.1
27 leprosy 3 10.1
28 pancreatic cancer 10.1
29 malaria 10.1
30 helix syndrome 10.1
31 tetanus 10.1
32 leukemia 10.1
33 neuroblastoma 10.1
34 hansen's disease 10.1
35 anhidrosis 10.0
36 atherosclerosis susceptibility 9.9
37 craniofacial-deafness-hand syndrome 9.9
38 diabetes mellitus, noninsulin-dependent 9.9
39 hand skill, relative 9.9
40 ovarian cancer 9.9
41 arterial calcification, generalized, of infancy, 1 9.9
42 autism 9.9
43 tibial hemimelia 9.9
44 yemenite deaf-blind hypopigmentation syndrome 9.9
45 persistent polyclonal b-cell lymphocytosis 9.9
46 nasopharyngeal carcinoma 9.9
47 coronary heart disease 1 9.9
48 human immunodeficiency virus type 1 9.9
49 kawasaki disease 9.9
50 cerebellar ataxia, neuropathy, and vestibular areflexia syndrome 9.9

Graphical network of the top 20 diseases related to Deafness-Hypogonadism Syndrome:



Diseases related to Deafness-Hypogonadism Syndrome

Symptoms & Phenotypes for Deafness-Hypogonadism Syndrome

Human phenotypes related to Deafness-Hypogonadism Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 delayed puberty 58 31 hallmark (90%) Very frequent (99-80%) HP:0000823
3 hypergonadotropic hypogonadism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000815
4 enlarged cochlear aqueduct 58 31 hallmark (90%) Very frequent (99-80%) HP:0011388
5 abnormal spermatogenesis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008669
6 progressive sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000408
7 stapes ankylosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000381
8 severe conductive hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0012717
9 abnormality of the internal auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0011384
10 behavioral abnormality 58 31 frequent (33%) Frequent (79-30%) HP:0000708
11 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
12 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
13 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
14 heterochromia iridis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001100
15 congenital stationary night blindness 58 31 occasional (7.5%) Occasional (29-5%) HP:0007642
16 low levels of vitamin b1 31 occasional (7.5%) HP:0100503
17 conductive hearing impairment 58 Very frequent (99-80%)
18 abnormality of the middle ear ossicles 58 Very frequent (99-80%)
19 vitamin b1 deficiency 58 Occasional (29-5%)

Clinical features from OMIM:

304350

Drugs & Therapeutics for Deafness-Hypogonadism Syndrome

Search Clinical Trials , NIH Clinical Center for Deafness-Hypogonadism Syndrome

Genetic Tests for Deafness-Hypogonadism Syndrome

Anatomical Context for Deafness-Hypogonadism Syndrome

Publications for Deafness-Hypogonadism Syndrome

Articles related to Deafness-Hypogonadism Syndrome:

# Title Authors PMID Year
1
Microdeletions in patients with gusher-associated, X-linked mixed deafness (DFN3). 56
1609803 1992
2
Molecular genetics of X-linked hearing impairment. 56
1683204 1991
3
Congenital deafness and hypogonadism: a new X-linked recessive disorder. 56
6819099 1982
4
[Alopecia-anosmia-deafness-hypogonadism syndrome (Johnson type)]. 61
11462383 2001
5
Alopecia-anosmia-deafness-hypogonadism syndrome revisited: report of a new case. 61
3591836 1987

Variations for Deafness-Hypogonadism Syndrome

Expression for Deafness-Hypogonadism Syndrome

Search GEO for disease gene expression data for Deafness-Hypogonadism Syndrome.

Pathways for Deafness-Hypogonadism Syndrome

GO Terms for Deafness-Hypogonadism Syndrome

Sources for Deafness-Hypogonadism Syndrome

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
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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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