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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: Dystonia Musculorum Deformans (D004422)
Parent Node: Voice Disorders (D014832)
..Starting node ..Whispering dysphonia, hereditary (C536698)
Child Nodes:
Sister Nodes:
..Aphonia (D001044)
..Dysphonia (D055154) 1
..Hoarseness (D006685) 2
..Whispering dysphonia, hereditary (C536698)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11740

Name:

Whispering dysphonia, hereditary

Definition:

Alternative IDs:

OMIM:128101

ParentIDs:

MESH:D004422|MESH:D014832

TreeNumbers:

C08.360.940/C536698 |C09.400.940/C536698 |C10.228.140.079.357/C536698 |C10.228.662.300.200/C536698 |C10.574.500.393/C536698 |C10.597.975/C536698 |C16.320.400.330/C536698 |C23.888.592.979/C536698

Synonyms:

DYSTONIA 4, TORSION, AUTOSOMAL DOMINANT |DYSTONIA MUSCULORUM DEFORMANS 4 |DYT4 |Hereditary whispering dysphonia |WHISPERING DYSPHONIA, HEREDITARY

Slim Mappings:

Ear-nose-throat disease|Genetic disease (inborn)|Nervous system disease|Respiratory tract disease|Signs and symptoms

Reference:

MedGen: C536698
MeSH: C536698
OMIM: 128101;

Genes: TUBB4A;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002015	Dysphagia
3	HP:0001618	Dysphonia
4	HP:0002066	Gait ataxia
5	HP:0007325	Generalized dystonia
6	HP:0002451	Limb dystonia
7	HP:0000275	Narrow face
8	HP:0009938	Sunken cheeks
9	HP:0001304	Torsion dystonia
10	HP:0000473	Torticollis

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	Disease_hgmd
NM_001289123.1(TUBB4A):c.964G>A (p.Ala322Thr)	10382	TUBB4A	Pathogenic	587777074	RCV000077783;	N	MedGen:C1851943,OMIM:128101,ORPHA:98805	19	6495699	6495699	NM_001289123.1:c.964G>A	NP_001276052.1:p.Ala322Thr	NC_000019.9:g.6495699C>T	OMIM Allelic Variant:602662.0003	C1851943 128101 Autosomal dominant torsion dystonia 4
NM_001289123.1(TUBB4A):c.157C>G (p.Arg53Gly)	10382	TUBB4A	Pathogenic	587776983	RCV000043680;	N	MedGen:C1851943,OMIM:128101,ORPHA:98805	19	6502220	6502220	NM_001289123.1:c.157C>G	NP_001276052.1:p.Arg53Gly	NC_000019.9:g.6502220G>C	OMIM Allelic Variant:602662.0001	C1851943 128101 Autosomal dominant torsion dystonia 4