PPKNR
MCID: PLM154
MIFTS: 15

Palmoplantar Keratoderma, Norrbotten Recessive Type (PPKNR)

Categories: Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Norrbotten Recessive Type

MalaCards integrated aliases for Palmoplantar Keratoderma, Norrbotten Recessive Type:

Name: Palmoplantar Keratoderma, Norrbotten Recessive Type 57
Hereditary Palmoplantar Hyperkeratosis, Gamborg-Nielsen Type 58
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type 58
Keratoderma, Palmoplantar, Norrbotten Recessive Type 70
Ppk, Gamborg-Nielsen Type 58
Ppknr 57

Characteristics:

Orphanet epidemiological data:

58

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
obligatory heterozygotes are clinically unaffected


HPO:

31
palmoplantar keratoderma, norrbotten recessive type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

OMIM® 57 244850
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 71 C1855644
Orphanet 58 ORPHA86923
MedGen 41 C1855644
UMLS 70 C1855644

Summaries for Palmoplantar Keratoderma, Norrbotten Recessive Type

MalaCards based summary : Palmoplantar Keratoderma, Norrbotten Recessive Type, is also known as hereditary palmoplantar hyperkeratosis, gamborg-nielsen type. An important gene associated with Palmoplantar Keratoderma, Norrbotten Recessive Type is SLURP1 (Secreted LY6/PLAUR Domain Containing 1). Related phenotypes are diffuse palmoplantar keratoderma and hyperkeratosis with erythema

More information from OMIM: 244850

Related Diseases for Palmoplantar Keratoderma, Norrbotten Recessive Type

Symptoms & Phenotypes for Palmoplantar Keratoderma, Norrbotten Recessive Type

Human phenotypes related to Palmoplantar Keratoderma, Norrbotten Recessive Type:

58 31 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diffuse palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0007435
2 hyperkeratosis with erythema 58 31 hallmark (90%) Very frequent (99-80%) HP:0007390
3 palmoplantar keratoderma 31 very rare (1%) HP:0000982
4 recurrent cutaneous fungal infections 31 very rare (1%) HP:0011370
5 hyperkeratosis 31 HP:0000962
6 papule 31 HP:0200034

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Skin Nails Hair Skin:
palmoplantar keratoderma
bluish-red border demarcating transition to normal skin
transgression of hyperkeratosis to dorsum of hands and feet (in some patients)
knuckle pads on dorsal finger and toe joints

Skin Nails Hair Skin Electron Microscopy:
tonofibrils increased
thickened granular layer
variation in amount, size, and ultrastructure of keratohyaline granules
desmosomal disks observed in upper granular layers

Skin Nails Hair Skin Histology:
acanthosis, marked
granular layer focally broadened
tonofibrils increased
orthohyperkeratosis of horny layer

Clinical features from OMIM®:

244850 (Updated 20-May-2021)

Drugs & Therapeutics for Palmoplantar Keratoderma, Norrbotten Recessive Type

Search Clinical Trials , NIH Clinical Center for Palmoplantar Keratoderma, Norrbotten Recessive Type

Genetic Tests for Palmoplantar Keratoderma, Norrbotten Recessive Type

Anatomical Context for Palmoplantar Keratoderma, Norrbotten Recessive Type

Publications for Palmoplantar Keratoderma, Norrbotten Recessive Type

Articles related to Palmoplantar Keratoderma, Norrbotten Recessive Type:

# Title Authors PMID Year
1
Hereditary palmoplantar keratosis of the Gamborg Nielsen type. Clinical and ultrastructural characteristics of a new type of autosomal recessive palmoplantar keratosis. 57
2260881 1990
2
Two different clinical and genetic forms of hereditary palmoplantar keratoderma in the northernmost county of Sweden. 57
2935332 1985

Variations for Palmoplantar Keratoderma, Norrbotten Recessive Type

Expression for Palmoplantar Keratoderma, Norrbotten Recessive Type

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

Pathways for Palmoplantar Keratoderma, Norrbotten Recessive Type

GO Terms for Palmoplantar Keratoderma, Norrbotten Recessive Type

Sources for Palmoplantar Keratoderma, Norrbotten Recessive Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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