MCID: PLM104
MIFTS: 18

Palmoplantar Keratoderma, Nagashima Type

Categories: Genetic diseases, Skin diseases, Rare diseases

Aliases & Classifications for Palmoplantar Keratoderma, Nagashima Type

MalaCards integrated aliases for Palmoplantar Keratoderma, Nagashima Type:

Name: Palmoplantar Keratoderma, Nagashima Type 57 59 29 6 73
Keratoderma, Palmoplantar, Nagashima Type 75 40
Ppkn 57 75
Palmoplantar Hyperkeratosis, Nagashima Type 59
Ppk, Nagashima Type 59

Characteristics:

Orphanet epidemiological data:

59
palmoplantar keratoderma, nagashima type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
skin manifestations appear in infancy or childhood and are gradually progressive until the mid-to-late second decade of life


HPO:

32
palmoplantar keratoderma, nagashima type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 615598
Orphanet 59 ORPHA140966
ICD10 via Orphanet 34 Q82.8
MeSH 44 D007645
UMLS 73 C3810072

Summaries for Palmoplantar Keratoderma, Nagashima Type

OMIM : 57 Nagashima-type palmoplantar keratoderma is an autosomal recessive nonsyndromic diffuse palmoplantar keratosis, first described by Nagashima (1977) in the Japanese literature. It is characterized by well-demarcated diffuse erythematous hyperkeratosis that extends onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Involvement of the elbows and knees has also been reported, and there is a high frequency of hyperhidrosis on the palms and soles. In contrast to other types of transgressive diffuse hyperkeratosis such as mal de Meleda (248300) and the Gamborg Nielsen type of recessive PPK (PPK Norrbotten; 244850), PPKN shows only mild hyperkeratosis that is nonprogressive after the second decade and does not involve flexion contractures or constricting bands (summary by Kubo et al., 2013). For a discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma, see epidermolytic PPK (144200). (615598)

MalaCards based summary : Palmoplantar Keratoderma, Nagashima Type, is also known as keratoderma, palmoplantar, nagashima type. An important gene associated with Palmoplantar Keratoderma, Nagashima Type is SERPINB7 (Serpin Family B Member 7). Affiliated tissues include skin, and related phenotypes are hyperhidrosis and palmoplantar keratoderma

UniProtKB/Swiss-Prot : 75 Keratoderma, palmoplantar, Nagashima type: An autosomal recessive, non-syndromic, diffuse palmoplantar keratosis characterized by well-demarcated diffuse erythematous hyperkeratosis expanding onto the dorsal surfaces of the palms and feet and the Achilles tendon area. Hyperkeratosis is mild and non-progressive.

Related Diseases for Palmoplantar Keratoderma, Nagashima Type

Symptoms & Phenotypes for Palmoplantar Keratoderma, Nagashima Type

Symptoms via clinical synopsis from OMIM:

57
Skin Nails Hair Skin:
erythematous palmoplantar hyperkeratosis, progressive extending onto dorsum of hands and achilles tendon area
hyperhidrosis of palms and soles
maceration of palms and soles
distinct odor of palms and soles

Skin Nails Hair Skin Histology:
orthokeratotic hyperkeratosis
acanthosis
hypergranulosis
perivascular inflammatory infiltrate, mild
lymphocytic infiltrate in upper dermis, mild to moderate


Clinical features from OMIM:

615598

Human phenotypes related to Palmoplantar Keratoderma, Nagashima Type:

59 32 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperhidrosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000975
2 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 palmoplantar hyperhidrosis 32 HP:0007410
4 orthokeratotic hyperkeratosis 32 HP:0025080
5 epidermal acanthosis 32 HP:0025092
6 hypergranulosis 32 HP:0025114

Drugs & Therapeutics for Palmoplantar Keratoderma, Nagashima Type

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Nagashima Type

Genetic Tests for Palmoplantar Keratoderma, Nagashima Type

Genetic tests related to Palmoplantar Keratoderma, Nagashima Type:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Nagashima Type 29 SERPINB7

Anatomical Context for Palmoplantar Keratoderma, Nagashima Type

MalaCards organs/tissues related to Palmoplantar Keratoderma, Nagashima Type:

41
Skin

Publications for Palmoplantar Keratoderma, Nagashima Type

Variations for Palmoplantar Keratoderma, Nagashima Type

ClinVar genetic disease variations for Palmoplantar Keratoderma, Nagashima Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SERPINB7 NM_003784.3(SERPINB7): c.796C> T (p.Arg266Ter) single nucleotide variant Pathogenic rs142859678 GRCh38 Chromosome 18, 63804288: 63804288
2 SERPINB7 NM_003784.3(SERPINB7): c.796C> T (p.Arg266Ter) single nucleotide variant Pathogenic rs142859678 GRCh37 Chromosome 18, 61471522: 61471522
3 SERPINB7 NM_001040147.2(SERPINB7): c.218_219delAGinsTAAACTTTACCT (p.Gln73Leufs) indel Pathogenic rs797044479 GRCh38 Chromosome 18, 63792442: 63792443
4 SERPINB7 NM_001040147.2(SERPINB7): c.218_219delAGinsTAAACTTTACCT (p.Gln73Leufs) indel Pathogenic rs797044479 GRCh37 Chromosome 18, 61459676: 61459677
5 SERPINB7 NM_001040147.2(SERPINB7): c.455-1G> A single nucleotide variant Pathogenic rs577442939 GRCh38 Chromosome 18, 63798603: 63798603
6 SERPINB7 NM_001040147.2(SERPINB7): c.455-1G> A single nucleotide variant Pathogenic rs577442939 GRCh37 Chromosome 18, 61465837: 61465837
7 SERPINB7 NM_003784.3(SERPINB7): c.522dupT (p.Val175Cysfs) duplication Pathogenic rs672601344 GRCh37 Chromosome 18, 61465905: 61465905
8 SERPINB7 NM_003784.3(SERPINB7): c.522dupT (p.Val175Cysfs) duplication Pathogenic rs672601344 GRCh38 Chromosome 18, 63798671: 63798671

Expression for Palmoplantar Keratoderma, Nagashima Type

Search GEO for disease gene expression data for Palmoplantar Keratoderma, Nagashima Type.

Pathways for Palmoplantar Keratoderma, Nagashima Type

GO Terms for Palmoplantar Keratoderma, Nagashima Type

Sources for Palmoplantar Keratoderma, Nagashima Type

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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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