MCID: KRT058
MIFTS: 25

Keratoderma, Palmoplantar, with Deafness

Categories: Genetic diseases, Rare diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Keratoderma, Palmoplantar, with Deafness

MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:

Name: Keratoderma, Palmoplantar, with Deafness 54 71 13
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome 25 56
Palmoplantar Keratoderma-Hearing Loss Syndrome 25 56
Palmoplantar Hyperkeratosis-Deafness Syndrome 25 56
Palmoplantar Keratoderma-Deafness Syndrome 25 56
Palmoplantar Keratoderma with Deafness 25 69
Keratoderma Palmoplantar Deafness 50 29
Ppk-Deafness Syndrome 25 56
Focal Palmoplantar Keratoderma with Sensorineural Deafness 50
Palmoplantar Keratoderma and Sensorineural Deafness 50
Hereditary Palmoplantar Keratoderma with Deafness 50
Diffuse Palmoplantar Keratoderma with Deafness 50
Keratoderma Palmoplantar, with Deafness 50
Ppk with Deafness 25
Ppkdfn 71

Characteristics:

Orphanet epidemiological data:

56
palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
allelic to deafness, autosomal recessive 1, , deafness, autosomal dominant 3, , vohwinkel syndrome, , keratitis-ichthyosis-deafness syndrome, , hystrix-like ichthyosis with deafness, , bart-pumphrey syndrome,


HPO:

32
keratoderma, palmoplantar, with deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 148350
Orphanet 56 ORPHA2202
MESH via Orphanet 43 C536152
UMLS via Orphanet 70 C1835672
ICD10 via Orphanet 34 Q82.8
MedGen 40 C1835672
MeSH 42 D007645

Summaries for Keratoderma, Palmoplantar, with Deafness

Genetics Home Reference : 25 Palmoplantar keratoderma with deafness is a disorder characterized by skin abnormalities and hearing loss. Affected individuals develop unusually thick skin on the palms of the hands and soles of the feet (palmoplantar keratoderma) beginning in childhood. Hearing loss ranges from mild to profound. It begins in early childhood and gets worse over time. Affected individuals have particular trouble hearing high-pitched sounds.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar hyperkeratosis-hearing loss syndrome, is related to autosomal recessive nonsyndromic deafness and keratitis-ichthyosis-deafness syndrome, and has symptoms including palmoplantar hyperkeratosis and hearing impairment. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin.

NIH Rare Diseases : 50 this condition doesn't have a summary yet. please see our page(s) on palmoplantar keratoderma.

UniProtKB/Swiss-Prot : 71 Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

Description from OMIM: 148350

Related Diseases for Keratoderma, Palmoplantar, with Deafness

Diseases related to Keratoderma, Palmoplantar, with Deafness via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 autosomal recessive nonsyndromic deafness 9.5 GJB2 MT-TS1
2 keratitis-ichthyosis-deafness syndrome 9.2 GJB2 MT-TS1

Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

Symptoms via clinical synopsis from OMIM:

54

Skin Nails & Hair- Skin:
palmoplantar hyperkeratosis

Head And Neck- Ears:
hearing loss, high frequency, slowly progressive (onset in early childhood)


Clinical features from OMIM:

148350

Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

32
id Description HPO Frequency HPO Source Accession
1 palmoplantar hyperkeratosis 32 HP:0000972
2 hearing impairment 32 HP:0000365

Drugs & Therapeutics for Keratoderma, Palmoplantar, with Deafness

Search Clinical Trials , NIH Clinical Center for Keratoderma, Palmoplantar, with Deafness

Genetic Tests for Keratoderma, Palmoplantar, with Deafness

Genetic tests related to Keratoderma, Palmoplantar, with Deafness:

id Genetic test Affiliating Genes
1 Keratoderma Palmoplantar Deafness 29

Anatomical Context for Keratoderma, Palmoplantar, with Deafness

MalaCards organs/tissues related to Keratoderma, Palmoplantar, with Deafness:

39
Skin

Publications for Keratoderma, Palmoplantar, with Deafness

Variations for Keratoderma, Palmoplantar, with Deafness

UniProtKB/Swiss-Prot genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

71
id Symbol AA change Variation ID SNP ID
1 GJB2 p.Arg75Trp VAR_002140 rs104894402
2 GJB2 p.Asp66His VAR_008710 rs104894403
3 GJB2 p.Gly59Ala VAR_009965 rs104894404
4 GJB2 p.Arg75Gln VAR_015936 rs28931593
5 GJB2 p.His73Arg VAR_060799 rs121912968

ClinVar genetic disease variations for Keratoderma, Palmoplantar, with Deafness:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 MT-TS1 m.7445A> G single nucleotide variant Pathogenic rs199474818 GRCh37 Chromosome MT, 7445: 7445
2 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
3 GJB2 NM_004004.5(GJB2): c.176G> C (p.Gly59Ala) single nucleotide variant Pathogenic rs104894404 GRCh37 Chromosome 13, 20763545: 20763545
4 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
5 GJB2 NM_004004.5(GJB2): c.218A> G (p.His73Arg) single nucleotide variant Pathogenic rs121912968 GRCh37 Chromosome 13, 20763503: 20763503
6 GJB2 NM_004004.5(GJB2): c.66G> T (p.Lys22Asn) single nucleotide variant Pathogenic rs879253741 GRCh38 Chromosome 13, 20189516: 20189516

Expression for Keratoderma, Palmoplantar, with Deafness

Search GEO for disease gene expression data for Keratoderma, Palmoplantar, with Deafness.

Pathways for Keratoderma, Palmoplantar, with Deafness

GO Terms for Keratoderma, Palmoplantar, with Deafness

Sources for Keratoderma, Palmoplantar, with Deafness

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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