MCID: BRN125
MIFTS: 19

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 58 74
Branchiogenic Deafness Syndrome 60
Mégarbané-Loiselet Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
branchiogenic deafness syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
branchiogenic-deafness syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 609166
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C1836673
Orphanet 60 ORPHA50815
MedGen 43 C1836673
UMLS 74 C1836673

Summaries for Branchiogenic-Deafness Syndrome

MalaCards based summary : Branchiogenic-Deafness Syndrome, is also known as branchiogenic deafness syndrome. 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

Description from OMIM: 609166

Related Diseases for Branchiogenic-Deafness Syndrome

Symptoms & Phenotypes for Branchiogenic-Deafness Syndrome

Human phenotypes related to Branchiogenic-Deafness Syndrome:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
2 strabismus 60 33 hallmark (90%) Very frequent (99-80%) HP:0000486
3 overfolded helix 60 33 hallmark (90%) Very frequent (99-80%) HP:0000396
4 short distal phalanx of finger 60 33 hallmark (90%) Very frequent (99-80%) HP:0009882
5 preauricular skin tag 60 33 hallmark (90%) Very frequent (99-80%) HP:0000384
6 atresia of the external auditory canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0000413
7 abnormality of the middle ear ossicles 60 33 hallmark (90%) Very frequent (99-80%) HP:0004452
8 branchial cyst 60 33 hallmark (90%) Very frequent (99-80%) HP:0009796
9 preauricular pit 60 33 hallmark (90%) Very frequent (99-80%) HP:0004467
10 astigmatism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000483
11 branchial fistula 60 33 hallmark (90%) Very frequent (99-80%) HP:0009795
12 osteolytic defects of the distal phalanges of the hand 60 33 hallmark (90%) Very frequent (99-80%) HP:0009839
13 aplasia/hypoplasia of the inner ear 60 33 hallmark (90%) Very frequent (99-80%) HP:0008774
14 mixed hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000410
15 underdeveloped tragus 60 33 hallmark (90%) Very frequent (99-80%) HP:0011272
16 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
17 specific learning disability 60 33 frequent (33%) Frequent (79-30%) HP:0001328
18 reticulated skin pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0007427
19 sensorineural hearing impairment 60 33 Very frequent (99-80%) HP:0000407
20 abnormality of the foot 33 HP:0001760
21 abnormality of the pinna 60 Very frequent (99-80%)
22 conductive hearing impairment 60 Very frequent (99-80%)
23 trismus 33 HP:0000211
24 submucous cleft hard palate 33 HP:0000176

Symptoms via clinical synopsis from OMIM:

58
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:

42
Skin, Eye

Publications for Branchiogenic-Deafness Syndrome

Articles related to Branchiogenic-Deafness Syndrome:

# Title Authors Year
1
A new dominant branchiogenic-deafness syndrome with internal auditory canal hypoplasia and abnormal extremities. ( 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
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
Content
Loading form....