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 58 60 74
Deafness Hypogonadism Syndrome 54
Dhs 58

Characteristics:

Orphanet epidemiological data:

60
deafness-hypogonadism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 58 304350
UMLS via Orphanet 75 C1844680
Orphanet 60 ORPHA90646
MedGen 43 C1844680
UMLS 74 C1844680

Summaries for Deafness-Hypogonadism Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 90646Disease definitionThis 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.EpidemiologyIt has been described in five related males.EtiologyInheritance 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 genedeletion 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

Description 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 all 49)
# Related Disease Score Top Affiliating Genes
1 retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 12.2
2 cataract-deafness-hypogonadism syndrome 12.2
3 dehydrated hereditary stomatocytosis 1 with or without pseudohyperkalemia and/or perinatal edema 12.1
4 dermatitis herpetiformis 12.0
5 dermatitis herpetiformis, familial 11.4
6 johnson neuroectodermal syndrome 11.4
7 crandall syndrome 11.3
8 retinitis pigmentosa, deafness, mental retardation, and hypogonadism 11.2
9 dehydrated hereditary stomatocytosis 2 11.1
10 dermatitis 10.1
11 alopecia 10.0
12 hypogonadism 10.0
13 hypogonadotropism 10.0
14 multiple sclerosis 10.0
15 deficiency anemia 10.0
16 spindle cell hemangioma 10.0
17 rheumatoid arthritis 9.9
18 neuroblastoma 9.9
19 persistent polyclonal b-cell lymphocytosis 9.9
20 coronary heart disease 1 9.9
21 malaria 9.9
22 kawasaki disease 9.9
23 b-cell expansion with nfkb and t-cell anergy 9.9
24 al-raqad syndrome 9.9
25 arthritis 9.9
26 osteonecrosis 9.9
27 dengue shock syndrome 9.9
28 common cold 9.9
29 borderline personality disorder 9.9
30 heart disease 9.9
31 hemopericardium 9.9
32 pericardial effusion 9.9
33 allergic hypersensitivity disease 9.9
34 optic neuritis 9.9
35 diarrhea 9.9
36 personality disorder 9.9
37 vascular disease 9.9
38 neuritis 9.9
39 melanoma 9.9
40 relapsing-remitting multiple sclerosis 9.9
41 adenocarcinoma 9.9
42 gastric adenocarcinoma 9.9
43 scrapie 9.9
44 pneumonia 9.9
45 peripheral nervous system disease 9.9
46 anthrax disease 9.9
47 peritonitis 9.9
48 neuropathy 9.9
49 hypoxia 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:

60 33 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002750
2 delayed puberty 60 33 hallmark (90%) Very frequent (99-80%) HP:0000823
3 hypergonadotropic hypogonadism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000815
4 enlarged cochlear aqueduct 60 33 hallmark (90%) Very frequent (99-80%) HP:0011388
5 abnormal spermatogenesis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008669
6 progressive sensorineural hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000408
7 stapes ankylosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000381
8 abnormality of the internal auditory canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0011384
9 severe conductive hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0012717
10 behavioral abnormality 60 33 frequent (33%) Frequent (79-30%) HP:0000708
11 hypertelorism 60 33 occasional (7.5%) Occasional (29-5%) HP:0000316
12 cognitive impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0100543
13 epicanthus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000286
14 heterochromia iridis 60 33 occasional (7.5%) Occasional (29-5%) HP:0001100
15 congenital stationary night blindness 60 33 occasional (7.5%) Occasional (29-5%) HP:0007642
16 vitamin b1 deficiency 60 33 occasional (7.5%) Occasional (29-5%) HP:0100503
17 conductive hearing impairment 60 Very frequent (99-80%)
18 abnormality of the middle ear ossicles 60 Very frequent (99-80%)

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 Year
1
Alopecia-anosmia-deafness-hypogonadism syndrome revisited: report of a new case. ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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