PPKNR
MCID: PLM154
MIFTS: 16

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 58
Hereditary Palmoplantar Hyperkeratosis, Gamborg-Nielsen Type 60
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type 60
Keratoderma, Palmoplantar, Norrbotten Recessive Type 74
Ppk, Gamborg-Nielsen Type 60
Ppknr 58

Characteristics:

Orphanet epidemiological data:

60

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
obligatory heterozygotes are clinically unaffected


HPO:

33
palmoplantar keratoderma, norrbotten recessive type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


External Ids:

OMIM 58 244850
ICD10 via Orphanet 35 Q82.8
UMLS via Orphanet 75 C1855644
Orphanet 60 ORPHA86923
MedGen 43 C1855644
UMLS 74 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). Affiliated tissues include skin, and related phenotypes are diffuse palmoplantar keratoderma and hyperkeratosis with erythema

Description 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:

60 33 (show all 6)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 diffuse palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0007435
2 hyperkeratosis with erythema 60 33 hallmark (90%) Very frequent (99-80%) HP:0007390
3 palmoplantar keratoderma 33 very rare (1%) HP:0000982
4 recurrent cutaneous fungal infections 33 very rare (1%) HP:0011370
5 hyperkeratosis 33 HP:0000962
6 papule 33 HP:0200034

Symptoms via clinical synopsis from OMIM:

58
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

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

MalaCards organs/tissues related to Palmoplantar Keratoderma, Norrbotten Recessive Type:

42
Skin

Publications for Palmoplantar Keratoderma, Norrbotten Recessive Type

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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