Disease browser and phenotype portal

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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

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

Disease Browser
Parent Node: Keratosis (D007642)
Parent Node: Skin Diseases, Genetic (D012873)
..Starting node ..Keratoderma, Palmoplantar (D007645)
Child 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)
Sister Nodes:
..Actinic Prurigo (C566780)
..Albinism (D000417) 30
..Amyloidosis IX (C562643)
..Amyloidosis, Cutaneous Bullous (C562644)
..Amyloidosis, Primary Cutaneous (C562642)
..Annular Erythema (C562461)
..Arterial Tortuosity Syndrome (C565942)
..Atrophia Maculosa Varioliformis Cutis, Familial (C563349)
..Basaloid Follicular Hamartoma Syndrome, Generalized, Autosomal Dominant (C565284)
..Buschke-Ollendorff syndrome (C537415)
..Collagenosis, Familial Reactive Perforating (C565687)
..Cutis Laxa (D003483) 17
..Darier Disease (D007644) 7
..Dermatitis, Atopic (D003876) 9
..dowling-degos disease (C562924)
..Dyschromatosis universalis hereditaria (C535730)
..Dyschromatosis Universalis Hereditaria 1 (C567273)
..Dyschromatosis Universalis Hereditaria 2 (C567194)
..Dyskeratosis Congenita (D019871) 3
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Erythrokeratodermia Variabilis (D056266) 3
..Erythrokeratodermia with ataxia (C535738)
..Exfoliative Ichthyosis, Autosomal Recessive, Ichthyosis Bullosa of Siemens-like (C564309)
..Fingerprints, Absence of (C565010)
..Follicular Atrophoderma, Perioral Pigmented, with Milia and Epidermoid Cysts (C566360)
..Gerodermia osteodysplastica (C537799)
..Hereditary Autoinflammatory Diseases (D056660) 10
..Histiocytic Dermatoarthritis (C564183)
..Hyalinosis, Systemic (D057770)
..Hyaluronan Metabolism, Defect in (C565742)
..Ichthyosiform Erythroderma, Congenital (D016113) 18
..Ichthyosis Bullosa of Siemens (D053560)
..Ichthyosis Vulgaris (D016112) 1
..Ichthyosis, X-Linked (D016114) 2
..Incontinentia Pigmenti (D007184) 2
..Juvenile Spring Eruption of Ears (C566781)
..Keratoderma, Palmoplantar (D007645) 45
..Keratolytic winter erythema (C536155)
..Keratosis Follicularis Spinulosa Decalvans, X-Linked (C536159)
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Leukokeratosis, Hereditary Mucosal (D053529)
..Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis (C565440)
..Lipoid Proteinosis of Urbach and Wiethe (D008065)
..Monilethrix (D056734) 1
..Muir-Torre Syndrome (D055653)
..Netherton Syndrome (D056770)
..Noduli Cutanei, Multiple, with Urinary Tract Abnormalities (C563512)
..Oculotrichodysplasia (C564934)
..Onychogryposis, Pedal, with Keratosis Plantaris and Coarse Hair (C563506)
..Orofaciodigital syndrome 9 (C557818)
..Osseous Heteroplasia, Progressive (C562735)
..Osteopoikilosis, Isolated (C563484)
..Parana Hard Skin Syndrome (C564905)
..Peeling Skin Syndrome (C564818)
..Pemphigus, Benign Familial (D016506)
..Perifolliculitis Capitis Abscedens Et Suffodiens, Familial (C562486)
..Pigmentary Disorder, Reticulate, with Systemic Manifestations (C564461)
..Plasminogen Deficiency, Type I (C566897)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Porokeratosis (D017499) 7
..Porphyria, Erythropoietic (D017092)
..Porphyrias, Hepatic (D017094) 14
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Rothmund-Thomson Syndrome (D011038) 5
..Sjogren-Larsson Syndrome (D016111) 1
..Skin Fragility-Woolly Hair Syndrome (C564359)
..Stiff Skin Syndrome (C566112)
..Storm Syndrome (C566109)
..Trichothiodystrophy Syndromes (D054463) 5
..Vitiligo, Progressive, with Mental Retardation and Urethral Duplication (C564739)
..Vohwinkel Syndrome, Variant Form (C565826)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6062

Name:

Keratoderma, Palmoplantar

Definition:

Group of mostly hereditary disorders characterized by thickening of the palms and soles as a result of excessive keratin formation leading to hypertrophy of the stratum corneum (hyperkeratosis).

Alternative IDs:

OMIM:248300

ParentIDs:

MESH:D007642|MESH:D012873

TreeNumbers:

C16.320.850.475 |C17.800.428.435 |C17.800.827.475

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Skin disease

Reference:

MedGen: D007645
MeSH: D007645
OMIM: 248300;

Genes: SLURP1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003593	Infantile onset
3	HP:0000153	Abnormality of the mouth
4	HP:0001156	Brachydactyly
5	HP:0007553	Congenital symmetrical palmoplantar keratosis
6	HP:0010783	Erythema
7	HP:0001808	Fragile nails
8	HP:0000975	Hyperhidrosis
9	HP:0008064	Ichthyosis

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_020427.2(SLURP1):c.296G>A (p.Cys99Tyr)	57152	SLURP1	Pathogenic	121908320	RCV000004870;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143822577	143822577	NM_020427.2:c.296G>A	NP_065160.1:p.Cys99Tyr	NC_000008.10:g.143822577C>T	OMIM Allelic Variant:606119.0009	C0025221 248300 Acroerythrokeratoderma
NM_020427.2(SLURP1):c.286C>T (p.Arg96Ter)	57152	SLURP1	Pathogenic	121908317	RCV000004864;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143822587	143822587	NM_020427.2:c.286C>T	NP_065160.1:p.Arg96Ter	NC_000008.10:g.143822587G>A	OMIM Allelic Variant:606119.0003	C0025221 248300 Acroerythrokeratoderma
NM_020427.2(SLURP1):c.256G>A (p.Gly86Arg)	57152	SLURP1	Pathogenic	28937888	RCV000004865;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143822617	143822617	NM_020427.2:c.256G>A	NP_065160.1:p.Gly86Arg	NC_000008.10:g.143822617C>G,NC_000008.10:g.143822617C>T	OMIM Allelic Variant:606119.0004	C0025221 248300 Acroerythrokeratoderma
NM_020427.2(SLURP1):c.256G>C (p.Gly86Arg)	57152	SLURP1	Pathogenic	28937888	RCV000004866;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143822617	143822617	NM_020427.2:c.256G>C	NP_065160.1:p.Gly86Arg	NC_000008.10:g.143822617C>G,NC_000008.10:g.143822617C>T	OMIM Allelic Variant:606119.0005	C0025221 248300 Acroerythrokeratoderma
NM_020427.2(SLURP1):c.229T>C (p.Cys77Arg)	57152	SLURP1	Pathogenic	121908319	RCV000004869;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143822644	143822644	NM_020427.2:c.229T>C	NP_065160.1:p.Cys77Arg	NC_000008.10:g.143822644A>G	OMIM Allelic Variant:606119.0008	C0025221 248300 Acroerythrokeratoderma
NM_020427.2(SLURP1):c.178+1G>A	57152	SLURP1	Pathogenic	587776602	RCV000004863;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143823220	143823220	NM_020427.2:c.178+1G>A		8:g.143823220C>T	OMIM Allelic Variant:606119.0002	C0025221 248300 Acroerythrokeratoderma
NM_020427.2(SLURP1):c.82delT (p.Cys28Alafs)	57152	SLURP1	Pathogenic	587776601	RCV000004862;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143823317	143823317	NM_020427.2:c.82delT	NP_065160.1:p.Cys28Alafs	NC_000008.10:g.143823317delA	OMIM Allelic Variant:606119.0001	C0025221 248300 Acroerythrokeratoderma
NM_020427.2(SLURP1):c.43T>C (p.Trp15Arg)	57152	SLURP1	Pathogenic	121908318	RCV000004868;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143823761	143823761	NM_020427.2:c.43T>C	NP_065160.1:p.Trp15Arg	NC_000008.10:g.143823761A>G	OMIM Allelic Variant:606119.0007	C0025221 248300 Acroerythrokeratoderma
NM_020427.2(SLURP1):c.1A>C (p.Met1Leu)	57152	SLURP1	Pathogenic	28937889	RCV000004867;	N	MedGen:C0025221,OMIM:248300,ORPHA:87503,SNOMED CT:239069005	8	143823803	143823803	NM_020427.2:c.1A>C	NP_065160.1:p.Met1Leu	NC_000008.10:g.143823803T>G	OMIM Allelic Variant:606119.0006	C0025221 248300 Acroerythrokeratoderma