DHS
MCID: DFN313
MIFTS: 24

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 57 59 73
Deafness Hypogonadism Syndrome 53
Dhs 57

Characteristics:

Orphanet epidemiological data:

59
deafness-hypogonadism syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

OMIM 57 304350
Orphanet 59 ORPHA90646
UMLS via Orphanet 74 C1844680
MedGen 42 C1844680
UMLS 73 C1844680

Summaries for Deafness-Hypogonadism Syndrome

NIH Rare Diseases : 53 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. Affiliated tissues include t cells and b cells, and related phenotypes are hypertelorism and behavioral abnormality

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 41)
# 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 11.9
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 anosmia 10.0
12 alopecia 10.0
13 hypogonadism 10.0
14 multiple sclerosis 10.0
15 rheumatoid arthritis 9.9
16 neuroblastoma 9.9
17 persistent polyclonal b-cell lymphocytosis 9.9
18 kawasaki disease 9.9
19 b-cell expansion with nfkb and t-cell anergy 9.9
20 al-raqad syndrome 9.9
21 arthritis 9.9
22 osteonecrosis 9.9
23 dengue shock syndrome 9.9
24 common cold 9.9
25 hemopericardium 9.9
26 pericardial effusion 9.9
27 allergic hypersensitivity disease 9.9
28 diarrhea 9.9
29 vascular disease 9.9
30 melanoma 9.9
31 relapsing-remitting multiple sclerosis 9.9
32 adenocarcinoma 9.9
33 gastric adenocarcinoma 9.9
34 spindle cell hemangioma 9.9
35 pneumonia 9.9
36 peripheral nervous system disease 9.9
37 anthrax disease 9.9
38 peritonitis 9.9
39 neuropathy 9.9
40 eosinophilia-myalgia syndrome 9.9
41 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

Clinical features from OMIM:

304350

Human phenotypes related to Deafness-Hypogonadism Syndrome:

59 32 (show all 18)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000316
2 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
3 delayed skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0002750
4 cognitive impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0100543
5 delayed puberty 59 32 hallmark (90%) Very frequent (99-80%) HP:0000823
6 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
7 heterochromia iridis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001100
8 hypergonadotropic hypogonadism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000815
9 enlarged cochlear aqueduct 59 32 hallmark (90%) Very frequent (99-80%) HP:0011388
10 abnormal spermatogenesis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008669
11 congenital stationary night blindness 59 32 occasional (7.5%) Occasional (29-5%) HP:0007642
12 progressive sensorineural hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000408
13 vitamin b1 deficiency 59 32 occasional (7.5%) Occasional (29-5%) HP:0100503
14 stapes ankylosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000381
15 abnormality of the internal auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0011384
16 severe conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0012717
17 conductive hearing impairment 59 Very frequent (99-80%)
18 abnormality of the middle ear ossicles 59 Very frequent (99-80%)

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

MalaCards organs/tissues related to Deafness-Hypogonadism Syndrome:

41
T Cells, B Cells

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 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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