PPKDFN
MCID: KRT058
MIFTS: 33

Keratoderma, Palmoplantar, with Deafness (PPKDFN)

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

Aliases & Classifications for Keratoderma, Palmoplantar, with Deafness

MalaCards integrated aliases for Keratoderma, Palmoplantar, with Deafness:

Name: Keratoderma, Palmoplantar, with Deafness 56 73 13
Palmoplantar Keratoderma with Deafness 12 25 36 43 71
Keratoderma Palmoplantar Deafness 12 52 29 6
Palmoplantar Hyperkeratosis-Hearing Loss Syndrome 12 25 58
Palmoplantar Keratoderma-Hearing Loss Syndrome 12 25 58
Palmoplantar Hyperkeratosis-Deafness Syndrome 12 25 58
Palmoplantar Keratoderma-Deafness Syndrome 12 25 58
Ppk-Deafness Syndrome 12 25 58
Focal Palmoplantar Keratoderma with Sensorineural Deafness 52
Palmoplantar Keratoderma and Sensorineural Deafness 52
Hereditary Palmoplantar Keratoderma with Deafness 52
Diffuse Palmoplantar Keratoderma with Deafness 52
Keratoderma Palmoplantar, with Deafness 52
Keratoderma Palmoplantar, Deafness 39
Ppk with Deafness 25
Ppkdfn 73

Characteristics:

Orphanet epidemiological data:

58
palmoplantar keratoderma-deafness syndrome
Inheritance: Autosomal dominant,Mitochondrial inheritance; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood; Age of death: normal life expectancy;

OMIM:

56
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:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111505
OMIM 56 148350
KEGG 36 H00716
MESH via Orphanet 44 C536152
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1835672
Orphanet 58 ORPHA2202
MedGen 41 C1835672
UMLS 71 C1835672

Summaries for Keratoderma, Palmoplantar, with Deafness

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2202 Definition Palmoplantar keratoderma-deafness syndrome is a keratinization disorder characterized by focal or diffuse palmoplantar keratoderma. A patchy distribution is observed with accentuation on the thenars, hypothenars and the arches of the feet. The disease becomes apparent in infancy and is associated with sensorineural hearing loss that shows a variable age of onset. Due to genetic and clinical similarities, it has been proposed that palmoplantar keratoderma-deafness syndrome, knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome and keratoderma hereditarium mutilans may represent variants of one broad disorder of syndromic deafness with heterogeneous phenotype . The disease is transmitted in an autosomal dominant manner with incomplete penetrance . Visit the Orphanet disease page for more resources.

MalaCards based summary : Keratoderma, Palmoplantar, with Deafness, also known as palmoplantar keratoderma with deafness, is related to nonsyndromic deafness and sensorineural hearing loss. An important gene associated with Keratoderma, Palmoplantar, with Deafness is GJB2 (Gap Junction Protein Beta 2). Affiliated tissues include skin, and related phenotypes are sensorineural hearing impairment and palmoplantar keratoderma

Disease Ontology : 12 An autosomal dominant disease characterized by sensorineural hearing loss and progressive hyperkeratosis of the palms and soles that has material basis in heterozygous mutation in GJB2 on chromosome 13q12.11.

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. The signs and symptoms of this disorder may vary even within the same family, with some individuals developing only skin abnormalities and others developing only hearing loss.

KEGG : 36 Palmoplantar keratoderma with deafness is a Cx26 disorder characterized by sensorineural hearing loss and palmoplantar keratoderma as observed for other Cx26 syndromic deafness disorders such as Vohwinkel syndrome and Bart-Pumphrey syndrome.

UniProtKB/Swiss-Prot : 73 Keratoderma, palmoplantar, with deafness: An autosomal dominant disorder characterized by the association of palmoplantar hyperkeratosis with progressive, bilateral, high- frequency, sensorineural deafness.

More information from OMIM: 148350

Related Diseases for Keratoderma, Palmoplantar, with Deafness

Graphical network of the top 20 diseases related to Keratoderma, Palmoplantar, with Deafness:



Diseases related to Keratoderma, Palmoplantar, with Deafness

Symptoms & Phenotypes for Keratoderma, Palmoplantar, with Deafness

Human phenotypes related to Keratoderma, Palmoplantar, with Deafness:

58 31 (showing 5, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 hearing impairment 31 HP:0000365
4 hyperkeratosis 58 Very frequent (99-80%)
5 palmoplantar hyperkeratosis 31 HP:0000972

Symptoms via clinical synopsis from OMIM:

56
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

Drugs & Therapeutics for Keratoderma, Palmoplantar, with Deafness

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

Cochrane evidence based reviews: palmoplantar keratoderma 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 29 GJB2

Anatomical Context for Keratoderma, Palmoplantar, with Deafness

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

40
Skin

Publications for Keratoderma, Palmoplantar, with Deafness

Articles related to Keratoderma, Palmoplantar, with Deafness:

(showing 24, show less)
# Title Authors PMID Year
1
The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family. 6 56
12372058 2002
2
A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350). 6 56
10633135 2000
3
A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness. 61 56
17993581 2008
4
The GJB2 mutation R75Q can cause nonsyndromic hearing loss DFNA3 or hereditary palmoplantar keratoderma with deafness. 61 6
16059934 2005
5
Hereditary palmoplantar keratoderma with deafness. 56 61
8736341 1996
6
Diffuse palmoplantar keratoderma with deafness. 6 61
6213205 1982
7
Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss. 6
15996214 2005
8
Maternally inherited hearing impairment in a family with the mitochondrial DNA A7445G mutation. 6
11175301 2001
9
Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome. 6
11069477 2000
10
Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling. 6
10218527 1999
11
The deafness-associated mitochondrial DNA mutation at position 7445, which affects tRNASer(UCN) precursor processing, has long-range effects on NADH dehydrogenase subunit ND6 gene expression. 6
9742104 1998
12
Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. 6
9450881 1998
13
Connexin 26 mutations in hereditary non-syndromic sensorineural deafness. 56
9139825 1997
14
Mitochondrial mutation associated with nonsyndromic deafness. 6
8572257 1995
15
Complete mtDNA sequence of a patient in a maternal pedigree with sensorineural deafness. 6
7987332 1994
16
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. 6
8019558 1994
17
Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations. 56
1532426 1992
18
Palmoplantar keratoderma, deafness and atopy. 56
2956987 1987
19
Sequence and organization of the human mitochondrial genome. 6
7219534 1981
20
Familial hereditary, progressive sensori-neural hearing loss with keratosis palmaris and plantaris. 6
127819 1975
21
Connexin channels in congenital skin disorders. 61
26775130 2016
22
Overview of skin diseases linked to connexin gene mutations. 61
23675785 2014
23
Autosomal dominant prelingual hearing loss with palmoplantar keratoderma syndrome: Variability in clinical expression from mutations of R75W and R75Q in the GJB2 gene. 61
20583176 2010
24
A novel missense mutation in the second extracellular domain of GJB2, p.Ser183Phe, causes a syndrome of focal palmoplantar keratoderma with deafness. 61
18787097 2008

Variations for Keratoderma, Palmoplantar, with Deafness

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

6 (showing 28, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GJB2 NM_004004.6(GJB2):c.427C>T (p.Arg143Trp)SNV Pathogenic 17009 rs80338948 13:20763294-20763294 13:20189155-20189155
2 GJB2 NM_004004.6(GJB2):c.167del (p.Leu56fs)deletion Pathogenic 17010 rs80338942 13:20763554-20763554 13:20189415-20189415
3 GJB2 NM_004004.6(GJB2):c.176G>C (p.Gly59Ala)SNV Pathogenic 17015 rs104894404 13:20763545-20763545 13:20189406-20189406
4 GJB2 NM_004004.6(GJB2):c.269T>C (p.Leu90Pro)SNV Pathogenic 17016 rs80338945 13:20763452-20763452 13:20189313-20189313
5 GJB2 NM_004004.6(GJB2):c.109G>A (p.Val37Ile)SNV Pathogenic 17023 rs72474224 13:20763612-20763612 13:20189473-20189473
6 GJB2 NM_004004.6(GJB2):c.224G>A (p.Arg75Gln)SNV Pathogenic 17027 rs28931593 13:20763497-20763497 13:20189358-20189358
7 GJB2 NM_004004.6(GJB2):c.-23+1G>ASNV Pathogenic 17029 rs80338940 13:20766921-20766921 13:20192782-20192782
8 GJB2 NM_004004.6(GJB2):c.218A>G (p.His73Arg)SNV Pathogenic 17037 rs121912968 13:20763503-20763503 13:20189364-20189364
9 MT-TS1 NC_012920.1:m.7445A>GSNV Pathogenic 9563 rs199474818 MT:7445-7445 MT:7445-7445
10 GJB2 NM_004004.6(GJB2):c.231G>A (p.Trp77Ter)SNV Pathogenic 17001 rs80338944 13:20763490-20763490 13:20189351-20189351
11 GJB2 NM_004004.6(GJB2):c.71G>A (p.Trp24Ter)SNV Pathogenic 17002 rs104894396 13:20763650-20763650 13:20189511-20189511
12 GJB2 NM_004004.6(GJB2):c.35del (p.Gly12fs)deletion Pathogenic 17004 rs80338939 13:20763686-20763686 13:20189547-20189547
13 GJB2 NM_004004.6(GJB2):c.139G>T (p.Glu47Ter)SNV Pathogenic 17005 rs104894398 13:20763582-20763582 13:20189443-20189443
14 GJB2 NM_004004.6(GJB2):c.617A>G (p.Asn206Ser)SNV Pathogenic 44763 rs111033294 13:20763104-20763104 13:20188965-20188965
15 GJB2 NM_004004.6(GJB2):c.66G>T (p.Lys22Asn)SNV Pathogenic 242831 rs879253741 13:20763655-20763655 13:20189516-20189516
16 GJB2 NM_004004.6(GJB2):c.506G>A (p.Cys169Tyr)SNV Pathogenic 265481 rs774518779 13:20763215-20763215 13:20189076-20189076
17 GJB2 NM_004004.6(GJB2):c.175G>C (p.Gly59Arg)SNV Pathogenic 496215 rs104894410 13:20763546-20763546 13:20189407-20189407
18 GJB2 NM_004004.6(GJB2):c.94C>A (p.Arg32Ser)SNV Pathogenic/Likely pathogenic 550195 rs371024165 13:20763627-20763627 13:20189488-20189488
19 GJB2 NM_004004.6(GJB2):c.416G>A (p.Ser139Asn)SNV Pathogenic/Likely pathogenic 44749 rs76434661 13:20763305-20763305 13:20189166-20189166
20 GJB2 NM_004004.6(GJB2):c.131G>A (p.Trp44Ter)SNV Pathogenic/Likely pathogenic 188830 rs104894413 13:20763590-20763590 13:20189451-20189451
21 GJB2 NM_004004.6(GJB2):c.379C>T (p.Arg127Cys)SNV Pathogenic/Likely pathogenic 163514 rs727503066 13:20763342-20763342 13:20189203-20189203
22 GJB2 NM_004004.6(GJB2):c.551G>C (p.Arg184Pro)SNV Pathogenic/Likely pathogenic 17007 rs80338950 13:20763170-20763170 13:20189031-20189031
23 GJB2 NM_004004.6(GJB2):c.1A>G (p.Met1Val)SNV Pathogenic/Likely pathogenic 44729 rs111033293 13:20763720-20763720 13:20189581-20189581
24 GJB2 NM_004004.6(GJB2):c.283G>A (p.Val95Met)SNV Pathogenic/Likely pathogenic 44735 rs111033299 13:20763438-20763438 13:20189299-20189299
25 GJB2 NM_004004.6(GJB2):c.34G>T (p.Gly12Cys)SNV Likely pathogenic 44740 rs104894408 13:20763687-20763687 13:20189548-20189548
26 GJB2 NM_004004.6(GJB2):c.188T>C (p.Val63Ala)SNV Uncertain significance 177751 rs727504309 13:20763533-20763533 13:20189394-20189394
27 GJB2 NM_004004.6(GJB2):c.663G>C (p.Lys221Asn)SNV Uncertain significance 44764 rs375599392 13:20763058-20763058 13:20188919-20188919
28 GJB2 NM_004004.6(GJB2):c.670A>C (p.Lys224Gln)SNV Uncertain significance 44765 rs111033194 13:20763051-20763051 13:20188912-20188912

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

73 (showing 5, show less)
# 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

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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61 PubMed
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68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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