MCID: BRN125
MIFTS: 20

Branchiogenic-Deafness Syndrome

Categories: Ear diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Branchiogenic-Deafness Syndrome

MalaCards integrated aliases for Branchiogenic-Deafness Syndrome:

Name: Branchiogenic-Deafness Syndrome 56 71
Branchiogenic Hearing Loss Syndrome 58
Branchiogenic Deafness Syndrome 58
Megarbane-Loiselet Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
branchiogenic deafness syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
branchiogenic-deafness syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare otorhinolaryngological diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 609166
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1836673
Orphanet 58 ORPHA50815
MedGen 41 C1836673
UMLS 71 C1836673

Summaries for Branchiogenic-Deafness Syndrome

MalaCards based summary : Branchiogenic-Deafness Syndrome, also known as branchiogenic hearing loss syndrome, is related to strabismus and branchiootic syndrome 1. An important gene associated with Branchiogenic-Deafness Syndrome is EYA1 (EYA Transcriptional Coactivator And Phosphatase 1). Affiliated tissues include skin and eye, and related phenotypes are short stature and strabismus

More information from OMIM: 609166

Related Diseases for Branchiogenic-Deafness Syndrome

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

# Related Disease Score Top Affiliating Genes
1 strabismus 10.2
2 branchiootic syndrome 1 10.2
3 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.2
4 learning disability 10.2
5 mechanical strabismus 10.2

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



Diseases related to Branchiogenic-Deafness Syndrome

Symptoms & Phenotypes for Branchiogenic-Deafness Syndrome

Human phenotypes related to Branchiogenic-Deafness Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
2 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
3 overfolded helix 58 31 hallmark (90%) Very frequent (99-80%) HP:0000396
4 preauricular skin tag 58 31 hallmark (90%) Very frequent (99-80%) HP:0000384
5 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
6 atresia of the external auditory canal 58 31 hallmark (90%) Very frequent (99-80%) HP:0000413
7 abnormality of the middle ear ossicles 58 31 hallmark (90%) Very frequent (99-80%) HP:0004452
8 branchial cyst 58 31 hallmark (90%) Very frequent (99-80%) HP:0009796
9 preauricular pit 58 31 hallmark (90%) Very frequent (99-80%) HP:0004467
10 branchial fistula 58 31 hallmark (90%) Very frequent (99-80%) HP:0009795
11 astigmatism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000483
12 mixed hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000410
13 underdeveloped tragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0011272
14 aplasia/hypoplasia of the inner ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0008774
15 osteolytic defects of the distal phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009839
16 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
17 specific learning disability 58 31 frequent (33%) Frequent (79-30%) HP:0001328
18 reticulated skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0007427
19 sensorineural hearing impairment 58 31 Very frequent (99-80%) HP:0000407
20 conductive hearing impairment 58 Very frequent (99-80%)
21 abnormality of the foot 31 HP:0001760
22 trismus 31 HP:0000211
23 submucous cleft hard palate 31 HP:0000176
24 abnormality of the pinna 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

56
Growth Height:
short stature

Head And Neck Mouth:
trismus
submucosal cleft palate

Head And Neck Neck:
branchial cleft cysts
branchial cleft fistulae

Skeletal Feet:
short distal phalanges (toes 2-4)

Head And Neck Eyes:
strabismus

Head And Neck Ears:
conductive hearing loss
preauricular tags
preauricular pits
sensorineural hearing loss
mixed hearing loss
more
Skeletal Hands:
short distal phalanx (5th finger)
pointed phalanx (5th finger)
bony erosions (5th finger)

Clinical features from OMIM:

609166

Drugs & Therapeutics for Branchiogenic-Deafness Syndrome

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

Genetic Tests for Branchiogenic-Deafness Syndrome

Anatomical Context for Branchiogenic-Deafness Syndrome

MalaCards organs/tissues related to Branchiogenic-Deafness Syndrome:

40
Skin, Eye

Publications for Branchiogenic-Deafness Syndrome

Articles related to Branchiogenic-Deafness Syndrome:

# Title Authors PMID Year
1
A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities. 56 61
12833414 2003

Variations for Branchiogenic-Deafness Syndrome

Expression for Branchiogenic-Deafness Syndrome

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

Pathways for Branchiogenic-Deafness Syndrome

GO Terms for Branchiogenic-Deafness Syndrome

Sources for Branchiogenic-Deafness 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
49 NCIt
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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