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Hello! Guest! Please Login or Register! Clinician Mode

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: Hearing Loss, Sensorineural (D006319)
Parent Node: Keratoderma, Palmoplantar (D007645)
..Starting node ..Keratoderma palmoplantar deafness (C536152)
Child Nodes:
Sister Nodes:
..Acrokeratoelastoidosis of Costa (C535653)
..Alopecia congenita keratosis palmoplantaris (C537050)
..Basaran Yilmaz syndrome (C537660)
..Cardiomyopathy dilated with Woolly hair and keratoderma (C535581)
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Corneodermatoosseous syndrome (C536444)
..Fitzsimmons-McLachlan-Gilbert syndrome (C537058)
..Hyperkeratosis-Hyperpigmentation Syndrome (C564172)
..Hypotrichosis-Osteolysis-Periodontitis-Palmoplantar Keratoderma Syndrome (C564357)
..Judge Misch Wright syndrome (C537692)
..Keratoderma palmoplantar deafness (C536152)
..Keratoderma palmoplantar spastic paralysis (C536153)
..Keratoderma, Palmoplantar, Diffuse (D015776) 7
..Keratoderma, Palmoplantar, Norrbotten Recessive Type (C565454)
..Keratosis focal palmoplantar gingival (C536157)
..Keratosis Palmaris et Plantaris with Clinodactyly (C563646)
..Keratosis palmoplantaris papulosa (C536161)
..Keratosis palmoplantaris striata 1 (C536162)
..Keratosis palmoplantaris striata 3 (C536163)
..Keratosis Palmoplantaris Striata II (C565102)
..Keratosis palmoplantaris with esophageal cancer (C536164)
..Knuckle pads, leuconychia and sensorineural deafness (C537210)
..Naegeli syndrome (C538331)
..Naxos disease (C538346)
..Palmoplantar Hyperkeratosis And True Hermaphroditism (C567165)
..PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND 46,XX SEX REVERSAL (OMIM:610644)
..Palmoplantar Hyperkeratosis with Squamous Cell Carcinoma of Skin and Sex Reversal (C565693)
..Palmoplantar Keratoderma with Deafness (C580359)
..Palmoplantar Keratoderma, Epidermolytic, with Knuckle Pads (C564171)
..Papillon-Lefevre Disease (D010214) 2
..Patel Bixler syndrome (C536306)
..Porokeratosis punctata palmaris et plantaris (C536338)
..Powell Venencie Gordon syndrome (C538358)
..Schopf-Schulz-Passarge Syndrome (C565607)
..Stern Lubinsky Durrie syndrome (C537488)
..Vohwinkel syndrome (C536457)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6063

Name:

Keratoderma palmoplantar deafness

Definition:

Alternative IDs:

OMIM:148350

ParentIDs:

MESH:D006319|MESH:D007645

TreeNumbers:

C09.218.458.341.887/C536152 |C10.597.751.418.341.887/C536152 |C16.320.850.475/C536152 |C17.800.428.435/C536152 |C17.800.827.475/C536152 |C23.888.592.763.393.341.887/C536152

Synonyms:

Diffuse palmoplantar keratoderma with deafness |Focal palmoplantar keratoderma with sensorineural deafness |Hereditary palmoplantar keratoderma with deafness |Keratoderma palmoplantar, with deafness |Keratoderma, Palmoplantar, With Deafness |Palmoplantar kera

Slim Mappings:

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

Reference:

MedGen: C536152
MeSH: C536152
OMIM: 148350;

Genes: GJB2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000365	Hearing impairment
3	HP:0000972	Palmoplantar hyperkeratosis

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
m.7445A>G	-1	-	Pathogenic	199474818	RCV000010176; RCV000010177;	Y	MedGen:C1835672,OMIM:148350,ORPHA:2202; MedGen:C3151897,OMIM:500008	M	7445	7445	-	-	NC_012920.1:m.7445A>G	OMIM Allelic Variant:590080.0002	C3151897 500008 Deafness, nonsyndromic sensorineural, mitochondrial; C1835672 148350 Keratoderma palmoplantar deafness
NM_004004.5(GJB2):c.224G>A (p.Arg75Gln)	2706	GJB2	Pathogenic	28931593	RCV000018554; RCV000210858; RCV000018555; RCV000211764;	N	MedGen:C1835672,OMIM:148350,ORPHA:2202; MedGen:C2673759,OMIM:220290; MedGen:C2675750,OMIM:601544; MedGen:CN043648, Orphanet:ORPHA87884	13	20763497	20763497	NM_004004.5:c.224G>A	NP_003995.2:p.Arg75Gln	NC_000013.10:g.20763497C>T	OMIM Allelic Variant:121011.0026	C2675750 601544 Deafness, autosomal dominant 3a; C2673759 220290 Deafness, autosomal recessive 1A; C1835672 148350 Keratoderma palmoplantar deafness; CN043648 Non-syndromic genetic deafness
NM_004004.5(GJB2):c.218A>G (p.His73Arg)	2706	GJB2	Pathogenic	121912968	RCV000018565;	N	MedGen:C1835672,OMIM:148350,ORPHA:2202	13	20763503	20763503	NM_004004.5:c.218A>G	NP_003995.2:p.His73Arg	NC_000013.10:g.20763503T>C	OMIM Allelic Variant:121011.0038	C1835672 148350 Keratoderma palmoplantar deafness
NM_004004.5(GJB2):c.176G>C (p.Gly59Ala)	2706	GJB2	Pathogenic	104894404	RCV000018540;	N	MedGen:C1835672,OMIM:148350,ORPHA:2202	13	20763545	20763545	NM_004004.5:c.176G>C	NP_003995.2:p.Gly59Ala	NC_000013.10:g.20763545C>G,NC_000013.10:g.20763545C>T	OMIM Allelic Variant:121011.0015	C1835672 148350 Keratoderma palmoplantar deafness