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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Deafness (D003638)
..Starting node ..DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
Child Nodes:
Sister Nodes:
..Albinism deafness syndrome (C537042)
..ALPORT SYNDROME, X-LINKED (OMIM:301050)
..Arthrogryposis multiplex with deafness, inguinal hernias, and early death (C535381)
..Ayazi syndrome (C537793)
..Branchiogenic-Deafness Syndrome (C563780)
..Burn-Mckeown syndrome (C537411)
..Cardioauditory syndrome of Sanchez Cascos (C535577)
..Charcot-Marie-Tooth Disease, Demyelinating, Type 1e (C566136)
..Corneal Degeneration, Ribbonlike, with Deafness (C565157)
..Coxoauricular Syndrome (C565148)
..Davenport Donlan syndrome (C535988)
..Deaf-Blind Disorders (D054062) 26
..Deafness hyperuricemia neurologic ataxia (C535995)
..Deafness with Labyrinthine Aplasia Microtia and Microdontia (LAMM) (C548011)
..DEAFNESS, AUTOSOMAL DOMINANT 22;DFNA22 DEAFNESS, AUTOSOMAL DOMINANT 22, WITH HYPERTROPHIC CARDIOMYOPATHY, (OMIM:606346)
..DEAFNESS, AUTOSOMAL DOMINANT 27 (OMIM:612431)
..DEAFNESS, AUTOSOMAL DOMINANT 33 (OMIM:614211)
..DEAFNESS, AUTOSOMAL DOMINANT 4A (OMIM:600652)
..DEAFNESS, AUTOSOMAL DOMINANT 50 (OMIM:613074)
..DEAFNESS, AUTOSOMAL DOMINANT 51 (OMIM:613558)
..DEAFNESS, AUTOSOMAL RECESSIVE 18A (OMIM:602092)
..DEAFNESS, AUTOSOMAL RECESSIVE 25 (OMIM:613285)
..DEAFNESS, AUTOSOMAL RECESSIVE 36, WITH OR WITHOUT VESTIBULAR INVOLVEMENT (OMIM:609006)
..DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT (OMIM:600791)
..DEAFNESS, AUTOSOMAL RECESSIVE 45 (OMIM:612433)
..DEAFNESS, AUTOSOMAL RECESSIVE 74 (OMIM:613718)
..DEAFNESS, AUTOSOMAL RECESSIVE 83 (OMIM:613685)
..DEAFNESS, AUTOSOMAL RECESSIVE 84A (OMIM:613391)
..DEAFNESS, AUTOSOMAL RECESSIVE 85 (OMIM:613392)
..DEAFNESS, AUTOSOMAL RECESSIVE 89 (OMIM:613916)
..DEAFNESS, AUTOSOMAL RECESSIVE 91 (OMIM:613453)
..Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities (C567467)
..Deafness, congenital onychodystrophy, recessive form (C538204)
..Deafness, Congenital, and Familial Myoclonic Epilepsy (C565649)
..Deafness, Congenital, and Onychodystrophy, Autosomal Dominant (C567274)
..Deafness, Congenital, with Vitiligo and Achalasia (C565642)
..DEAFNESS, NONSYNDROMIC, MODIFIER 1 (OMIM:605429)
..DEAFNESS, Y-LINKED 1 (OMIM:400043)
..Dementia, familial Danish (C538209)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Emphysema, Congenital, With Deafness, Penoscrotal Web, And Mental Retardation (C566519)
..Epiphyseal Dysplasia of Femoral Head, Myopia, and Deafness (C565585)
..Fine-Lubinsky syndrome (C537933)
..Fountain syndrome (C537270)
..Herrmann syndrome (C538113)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..Hyperlipoproteinemia, Type II, and Deafness (C564170)
..HYPERTELORISM, PREAURICULAR SINUS, PUNCTAL PITS, AND DEAFNESS (OMIM:614187)
..Ichthyosiform erythroderma, corneal involvement, deafness (C537363)
..Johnson neuroectodermal syndrome (C535882)
..Jones syndrome (C535886)
..Keratitis, Ichthyosis, and Deafness (KID) Syndrome (C536168)
..Konigsmark Knox Hussels syndrome (C537214)
..Lynch Lee Murday syndrome (C537713)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Meyenburg-Altherr-Uehlinger syndrome (C537574)
..Microcephaly deafness syndrome (C537326)
..MUCKLE-WELLS SYNDROME (OMIM:191900)
..MULTIPLE SYNOSTOSES SYNDROME 1 (OMIM:186500)
..Myoclonic Epilepsy, Congenital Deafness, Macular Dystrophy, and Psychiatric Disorders (C565786)
..Myoclonus, Cerebellar Ataxia, and Deafness (C563549)
..Nasodigitoacoustic syndrome (C538337)
..Nathalie syndrome (C538342)
..Nephrosis deafness urinary tract digital malformation (C536402)
..Noninsulin-dependent diabetes mellitus with deafness (C536246)
..Nonsyndromic Deafness (C580334)
..Opticocochleodentate Degeneration (C563002)
..PERRAULT SYNDROME 3 (OMIM:614129)
..Ramos Arroyo Clark syndrome (C535286)
..Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness (C567595)
..Richards-Rundle syndrome (C535674)
..Schimke X-linked mental retardation syndrome (C536630)
..Schlegelberger Grote syndrome (C536635)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Spastic paraplegia 24 (C536860)
..Temtamy preaxial brachydactyly syndrome (C536958)
..Tibia, Absence of, with Congenital Deafness (C564764)
..Tietz syndrome (C536919)
..Wells Jankovic syndrome (C536692)
..Wright Dyck syndrome (C536749)
..X-linked mental retardation Gustavson type (C536759)
..Yemenite deaf-blind hypopigmentation syndrome (C536771)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

3012

Name:

DEAFNESS, AUTOSOMAL DOMINANT 4A

Definition:

Alternative IDs:

ParentIDs:

MESH:D003638

TreeNumbers:

C09.218.458.341.186/600652 |C10.597.751.418.341.186/600652 |C23.888.592.763.393.341.186/600652

Synonyms:

DEAFNESS, AUTOSOMAL DOMINANT 4 |DFNA4 |DFNA4A

Slim Mappings:

Ear-nose-throat disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: 600652
MeSH: 600652
OMIM: 600652;

Genes: MYH14;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000408	Progressive sensorineural hearing impairment

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_001145809.1(MYH14):c.20C>A (p.Ser7Ter)	79784	MYH14	Pathogenic	119103279	RCV000002280;	N	MedGen:C1833503,OMIM:600652	19	50713642	50713642	NM_001145809.1:c.20C>A	NP_001139281.1:p.Ser7Ter	NC_000019.9:g.50713642C>A	OMIM Allelic Variant:608568.0001	C1833503 600652 Deafness, autosomal dominant 4
NM_001145809.1(MYH14):c.359C>T (p.Ser120Leu)	79784	MYH14	Pathogenic	119103281	RCV000002284;	N	MedGen:C1833503,OMIM:600652	19	50713981	50713981	NM_001145809.1:c.359C>T	NP_001139281.1:p.Ser120Leu	NC_000019.9:g.50713981C>T	OMIM Allelic Variant:608568.0005	C1833503 600652 Deafness, autosomal dominant 4
NM_001145809.1(MYH14):c.1150G>T (p.Gly384Cys)	79784	MYH14	Likely benign;Pathogenic	119103280	RCV000002283; RCV000037022;	N	MedGen:C1833503,OMIM:600652; MedGen:CN169374	19	50747534	50747534	NM_001145809.1:c.1150G>T	NP_001139281.1:p.Gly384Cys	NC_000019.9:g.50747534G>T	OMIM Allelic Variant:608568.0004	C1833503 600652 Deafness, autosomal dominant 4; CN169374 not specified
NM_001145809.1(MYH14):c.2299C>A (p.Arg767Ser)	79784	MYH14	Pathogenic	28940307	RCV000002282;	N	MedGen:C1833503,OMIM:600652	19	50762467	50762467	NM_001145809.1:c.2299C>A	NP_001139281.1:p.Arg767Ser	NC_000019.9:g.50762467C>A	OMIM Allelic Variant:608568.0003	C1833503 600652 Deafness, autosomal dominant 4
NM_001145809.1(MYH14):c.3049C>T (p.Leu1017Phe)	79784	MYH14	Pathogenic	28940306	RCV000002281;	N	MedGen:C1833503,OMIM:600652	19	50774681	50774681	NM_001145809.1:c.3049C>T	NP_001139281.1:p.Leu1017Phe	NC_000019.9:g.50774681C>T	OMIM Allelic Variant:608568.0002	C1833503 600652 Deafness, autosomal dominant 4
NM_001077186.1(MYH14):c.3369-3C>T	79784	MYH14	Benign	78192108	RCV000144089; RCV000037042;	N	MedGen:C1833503,OMIM:600652; MedGen:CN169374	19	50779245	50779245	NM_001077186.1:c.3369-3C>T		NC_000019.9:g.50779245C>T	-	C1833503 600652 Deafness, autosomal dominant 4; CN169374 not specified
NM_024729.3(MYH14):c.3506G>A (p.Arg1169Gln)	79784	MYH14	Uncertain significance	794729639	RCV000185540;	N	MedGen:C1833503,OMIM:600652	19	50779409	50779409	NM_024729.3:c.3506G>A	NP_079005.3:p.Arg1169Gln	NC_000019.9:g.50779409G>A	-	C1833503 600652 Deafness, autosomal dominant 4