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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: Abnormalities, Multiple (D000015)
Parent Node: Hearing Loss, Sensorineural (D006319)
Parent Node: Keratoderma, Palmoplantar (D007645)
..Starting node ..Knuckle pads, leuconychia and sensorineural deafness (C537210)
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:

6126

Name:

Knuckle pads, leuconychia and sensorineural deafness

Definition:

Alternative IDs:

OMIM:149200

ParentIDs:

MESH:D000015|MESH:D006319|MESH:D007645

TreeNumbers:

C09.218.458.341.887/C537210 |C10.597.751.418.341.887/C537210 |C16.131.077/C537210 |C16.320.850.475/C537210 |C17.800.428.435/C537210 |C17.800.827.475/C537210 |C23.888.592.763.393.341.887/C537210

Synonyms:

Bart Pumphrey syndrome |Bart-Pumphrey Syndrome |Knuckle Pads, Leukonychia, and Sensorineural Deafness |Knuckle pads, leukonychia, deafness, and keratosis palmoplantaris

Slim Mappings:

Reference:

MedGen: C537210
MeSH: C537210
OMIM: 149200;

Genes: GJB2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0000365	Hearing impairment
3	HP:0001820	Leukonychia

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_004004.5(GJB2):c.175G>A (p.Gly59Ser)	2706	GJB2	Pathogenic	104894410	RCV000018562;	N	MedGen:C0266004,OMIM:149200,ORPHA:2698,SNOMED CT:1271009	13	20763546	20763546	NM_004004.5:c.175G>A	NP_003995.2:p.Gly59Ser	NC_000013.10:g.20763546C>T	OMIM Allelic Variant:121011.0035	C1851994 127100 Dwarfism Levi type; C0266004 149200 Knuckle pads, deafness AND leukonychia syndrome
NM_004004.5(GJB2):c.162C>A (p.Asn54Lys)	2706	GJB2	Pathogenic	104894412	RCV000018558;	N	MedGen:C0266004,OMIM:149200,ORPHA:2698,SNOMED CT:1271009	13	20763559	20763559	NM_004004.5:c.162C>A	NP_003995.2:p.Asn54Lys	NC_000013.10:g.20763559G>T	OMIM Allelic Variant:121011.0030	C1851994 127100 Dwarfism Levi type; C0266004 149200 Knuckle pads, deafness AND leukonychia syndrome