MCID: PLM154
MIFTS: 15

Palmoplantar Keratoderma, Norrbotten Recessive Type

Categories: Skin diseases, Rare 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 59
Hereditary Palmoplantar Keratoderma, Gamborg-Nielsen Type 59
Keratoderma, Palmoplantar, Norrbotten Recessive Type 73
Ppk, Gamborg-Nielsen Type 59
Ppknr 57

Characteristics:

Orphanet epidemiological data:

59

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
obligatory heterozygotes are clinically unaffected


HPO:

32
palmoplantar keratoderma, norrbotten recessive type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 59  
Rare skin diseases


External Ids:

OMIM 57 244850
Orphanet 59 ORPHA86923
UMLS via Orphanet 74 C1855644
ICD10 via Orphanet 34 Q82.8
MedGen 42 C1855644
SNOMED-CT via HPO 69 258211005 706885006 400123002
UMLS 73 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 hyperkeratosis with erythema and diffuse palmoplantar keratoderma

Description from OMIM: 244850

Related Diseases for Palmoplantar Keratoderma, Norrbotten Recessive Type

Symptoms & Phenotypes for Palmoplantar Keratoderma, Norrbotten Recessive Type

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Palmoplantar Keratoderma, Norrbotten Recessive Type:

59 32
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hyperkeratosis with erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0007390
2 diffuse palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0007435
3 palmoplantar keratoderma 32 HP:0000982

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:

41
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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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