MCID: KRT058
MIFTS: 27

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 53 71 13
Palmoplantar Keratoderma with Deafness 24 36 69
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome 24 55
Palmoplantar Keratoderma-Hearing Loss Syndrome 24 55
Palmoplantar Hyperkeratosis-Deafness Syndrome 24 55
Palmoplantar Keratoderma-Deafness Syndrome 24 55
Keratoderma Palmoplantar Deafness 49 28
Ppk-Deafness Syndrome 24 55
Focal Palmoplantar Keratoderma with Sensorineural Deafness 49
Palmoplantar Keratoderma and Sensorineural Deafness 49
Hereditary Palmoplantar Keratoderma with Deafness 49
Diffuse Palmoplantar Keratoderma with Deafness 49
Keratoderma Palmoplantar, with Deafness 49
Ppk with Deafness 24
Ppkdfn 71

Characteristics:

Orphanet epidemiological data:

55
palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

53
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:

31
keratoderma, palmoplantar, with deafness:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 148350
Orphanet 55 ORPHA2202
MESH via Orphanet 42 C536152
UMLS via Orphanet 70 C1835672
ICD10 via Orphanet 33 Q82.8
MedGen 39 C1835672
MeSH 41 D007645
KEGG 36 H00716
UMLS 69 C1835672

Summaries for Keratoderma, Palmoplantar, with Deafness

Genetics Home Reference : 24 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 keratoderma with deafness, is related to branchiootic syndrome 1 and nonsyndromic deafness, and has symptoms including sensorineural hearing impairment, palmoplantar keratoderma and hyperkeratosis. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin.

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.

NIH Rare Diseases : 49 This condition doesn't have a summary yet. Please see our page(s) on Palmoplantar keratoderma.

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:

# Related Disease Score Top Affiliating Genes
1 branchiootic syndrome 1 10.0
2 nonsyndromic deafness 9.4 GJB2 MT-TS1

Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Ears:
hearing loss, high frequency, slowly progressive (onset in early childhood)

Skin Nails Hair Skin:
palmoplantar hyperkeratosis


Clinical features from OMIM:

148350

Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

55 31
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 palmoplantar keratoderma 55 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 hyperkeratosis 55 Very frequent (99-80%)
4 hearing impairment 31 HP:0000365
5 palmoplantar hyperkeratosis 31 HP:0000972

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:

# Genetic test Affiliating Genes
1 Keratoderma Palmoplantar Deafness 28 GJB2

Anatomical Context for Keratoderma, Palmoplantar, with Deafness

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

38
Skin

Publications for Keratoderma, Palmoplantar, with Deafness

Articles related to Keratoderma, Palmoplantar, with Deafness:

# Title Authors Year
1
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. ( 17993581 )
2008
2
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. ( 18787097 )
2008
3
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. ( 16059934 )
2005
4
Hereditary palmoplantar keratoderma with deafness. ( 8736341 )
1996
5
Diffuse palmoplantar keratoderma with deafness. ( 6213205 )
1982

Variations for Keratoderma, Palmoplantar, with Deafness

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

71
# 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 (show all 14)
# 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.71G> A (p.Trp24Ter) single nucleotide variant Pathogenic rs104894396 GRCh37 Chromosome 13, 20763650: 20763650
3 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
4 GJB2 NM_004004.5(GJB2): c.139G> T (p.Glu47Ter) single nucleotide variant Pathogenic rs104894398 GRCh37 Chromosome 13, 20763582: 20763582
5 GJB2 NM_004004.5(GJB2): c.427C> T (p.Arg143Trp) single nucleotide variant Pathogenic rs80338948 GRCh37 Chromosome 13, 20763294: 20763294
6 GJB2 NM_004004.5(GJB2): c.176G> C (p.Gly59Ala) single nucleotide variant Pathogenic rs104894404 GRCh37 Chromosome 13, 20763545: 20763545
7 GJB2 NM_004004.5(GJB2): c.269T> C (p.Leu90Pro) single nucleotide variant Pathogenic rs80338945 GRCh37 Chromosome 13, 20763452: 20763452
8 GJB2 NM_004004.5(GJB2): c.224G> A (p.Arg75Gln) single nucleotide variant Pathogenic rs28931593 GRCh37 Chromosome 13, 20763497: 20763497
9 GJB2 NM_004004.5(GJB2): c.218A> G (p.His73Arg) single nucleotide variant Pathogenic rs121912968 GRCh37 Chromosome 13, 20763503: 20763503
10 GJB2 NM_004004.5(GJB2): c.283G> A (p.Val95Met) single nucleotide variant Pathogenic/Likely pathogenic rs111033299 GRCh37 Chromosome 13, 20763438: 20763438
11 GJB2 NM_004004.5(GJB2): c.416G> A (p.Ser139Asn) single nucleotide variant Pathogenic/Likely pathogenic rs76434661 GRCh37 Chromosome 13, 20763305: 20763305
12 GJB2 NM_004004.5(GJB2): c.617A> G (p.Asn206Ser) single nucleotide variant Pathogenic rs111033294 GRCh37 Chromosome 13, 20763104: 20763104
13 GJB2 NM_004004.5(GJB2): c.131G> A (p.Trp44Ter) single nucleotide variant Pathogenic/Likely pathogenic rs104894413 GRCh37 Chromosome 13, 20763590: 20763590
14 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

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65 SNOMED-CT via HPO
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70 UMLS via Orphanet
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