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 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:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

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: ⁵⁹

Rare eye diseases

Rare otorhinolaryngological diseases

Developmental anomalies during embryogenesis

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

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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 sensorineural hearing impairment and short stature

Description from OMIM: 609166

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Related Diseases for Branchiogenic-Deafness Syndrome

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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

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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:

⁴¹

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 )		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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