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 57 73
Branchiogenic Deafness Syndrome 59
Mégarbané-Loiselet Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
branchiogenic deafness syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
branchiogenic-deafness syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 609166
Orphanet 59 ORPHA50815
ICD10 via Orphanet 34 Q87.0
UMLS via Orphanet 74 C1836673
MedGen 42 C1836673
UMLS 73 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 sensorineural hearing impairment and short stature

Description from OMIM: 609166

Related Diseases for Branchiogenic-Deafness Syndrome

Symptoms & Phenotypes for Branchiogenic-Deafness Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Branchiogenic-Deafness Syndrome:

59 32 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 59 32 Very frequent (99-80%) HP:0000407
2 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
3 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
4 strabismus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000486
5 specific learning disability 59 32 frequent (33%) Frequent (79-30%) HP:0001328
6 overfolded helix 59 32 hallmark (90%) Very frequent (99-80%) HP:0000396
7 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
8 preauricular skin tag 59 32 hallmark (90%) Very frequent (99-80%) HP:0000384
9 atresia of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000413
10 abnormality of the middle ear ossicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0004452
11 branchial cyst 59 32 hallmark (90%) Very frequent (99-80%) HP:0009796
12 preauricular pit 59 32 hallmark (90%) Very frequent (99-80%) HP:0004467
13 astigmatism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000483
14 branchial fistula 59 32 hallmark (90%) Very frequent (99-80%) HP:0009795
15 osteolytic defects of the distal phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009839
16 aplasia/hypoplasia of the inner ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0008774
17 reticulated skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0007427
18 mixed hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000410
19 underdeveloped tragus 59 32 hallmark (90%) Very frequent (99-80%) HP:0011272
20 abnormality of the foot 32 HP:0001760
21 abnormality of the pinna 59 Very frequent (99-80%)
22 conductive hearing impairment 59 Very frequent (99-80%)
23 trismus 32 HP:0000211
24 submucous cleft hard palate 32 HP:0000176

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:

41
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 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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