Branchiogenic-Deafness Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Fetal diseases Rare diseases
Anatomical: Eye diseases Ear diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁶⁰

Rare eye diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

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

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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

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Related Diseases for Branchiogenic-Deafness Syndrome

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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

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Drugs & Therapeutics for Branchiogenic-Deafness Syndrome

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

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Genetic Tests for Branchiogenic-Deafness Syndrome

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Anatomical Context for Branchiogenic-Deafness Syndrome

MalaCards organs/tissues related to Branchiogenic-Deafness Syndrome:

⁴²

Skin, Eye

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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 )	MAcgarbanAc A....Loiselet J.	2003

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Genes for Branchiogenic-Deafness Syndrome

Genes related to Branchiogenic-Deafness Syndrome (0 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	EYA1	EYA Transcriptional Coactivator And Phosphatase 1	Protein Coding	17.33	GeneCards inferred via : Publications (show sections)

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Variations for Branchiogenic-Deafness Syndrome

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Expression for Branchiogenic-Deafness Syndrome

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

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Pathways for Branchiogenic-Deafness Syndrome

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GO Terms for Branchiogenic-Deafness Syndrome

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