PPKB
MCID: PLM135
MIFTS: 51

Palmoplantar Keratoderma, Bothnian Type (PPKB)

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Palmoplantar Keratoderma, Bothnian Type

MalaCards integrated aliases for Palmoplantar Keratoderma, Bothnian Type:

Name: Palmoplantar Keratoderma, Bothnian Type 56 52 36 29 6
Diffuse Palmoplantar Keratoderma, Bothnian Type 12 52 58 71
Ppkb 56 12 52 73
Non-Epidermolytic Palmoplantar Keratoderma 58 36
Keratoderma, Palmoplantar, Bothnian Type 73 39
Bothnian Type Palmoplantar Keratoderma 12 15
Neppk 58 54
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type 58
Palmoplantar Keratoderma, Nonepidermolytic 71
Keratoderma, Palmoplantar, Epidermolytic 43

Characteristics:

Orphanet epidemiological data:

58
non-epidermolytic palmoplantar keratoderma
Inheritance: Autosomal dominant;

OMIM:

56
Inheritance:
autosomal dominant (12q11-q13)


HPO:

31
palmoplantar keratoderma, bothnian type:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0111707
OMIM 56 600231
MeSH 43 D053546
ICD10 via Orphanet 33 Q82.8
UMLS via Orphanet 72 C1833030 C1838359
Orphanet 58 ORPHA2337
MedGen 41 C1838359
UMLS 71 C1833030 C1838359

Summaries for Palmoplantar Keratoderma, Bothnian Type

OMIM : 56 Hereditary palmoplantar keratoderma is characterized by hyperkeratosis of the skin of palms and soles. Lind et al. (1994) described an autosomal dominant form of diffuse nonepidermolytic PPK, designated PPK type Bothnia, which has a high prevalence of 0.3 to 0.55% in the 2 northernmost provinces of Sweden, situated to the west and the northwest of the Gulf of Bothnia. The Bothnian form is frequently complicated by fungal infections and lacks the histopathologic features distinctive of epidermolytic PPK (144200). For discussion of phenotypic and genetic heterogeneity of palmoplantar keratoderma (PPK), see epidermolytic PPK (144200). (600231)

MalaCards based summary : Palmoplantar Keratoderma, Bothnian Type, also known as diffuse palmoplantar keratoderma, bothnian type, is related to focal palmoplantar keratoderma and palmoplantar keratoderma, nonepidermolytic, focal 1. An important gene associated with Palmoplantar Keratoderma, Bothnian Type is AQP5 (Aquaporin 5), and among its related pathways/superpathways are TGF-Beta Pathway and Developmental Biology. Affiliated tissues include skin, colon and adipocyte, and related phenotypes are diffuse palmoplantar keratoderma and pruritus

Disease Ontology : 12 A nonepidermolytic palmoplantar keratoderma characterized by a diffuse nonepidermolytic form of palmoplantar keratoderma where the affected areas take on a white, spongy appearance upon exposure to water that has material basis in heterozygous mutation in AQP5 on chromosome 12q13.12.

KEGG : 36 Nonepidermolytic palmoplantar keratoderma (NEPPK) is an autosomal dominant skin disorder that manifests as keratosis of the palmar and plantar surfaces surrounded by erythema. NEPPK is divided into the focal form (FNEPPK), the focal or diffuse form (PPKNEFD), the diffuse Bothnian form (PPKB), Nagashima form (PPKN), and so on.

UniProtKB/Swiss-Prot : 73 Keratoderma, palmoplantar, Bothnian type: A dermatological disorder characterized by diffuse non-epidermolytic hyperkeratosis of the skin of palms and soles. PPKB is frequently complicated by fungal infections.

Related Diseases for Palmoplantar Keratoderma, Bothnian Type

Diseases related to Palmoplantar Keratoderma, Bothnian Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 75)
# Related Disease Score Top Affiliating Genes
1 focal palmoplantar keratoderma 31.1 KRT17 KRT16
2 palmoplantar keratoderma, nonepidermolytic, focal 1 31.0 KRT9 KRT16 KRT1
3 palmoplantar keratosis 30.8 KRT9 KRT17 KRT16 KRT1
4 keratosis 30.8 KRT9 KRT17 KRT1
5 epidermolysis bullosa simplex 30.6 KRT17 KRT16 KRT1
6 pachyonychia congenita 1 30.6 KRT9 KRT17 KRT16 KRT1
7 palmoplantar keratoderma, epidermolytic 30.6 KRT9 KRT17 KRT16 KRT1
8 palmoplantar keratoderma, nonepidermolytic 11.9
9 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.8
10 naxos disease 11.8
11 unna-thost palmoplantar keratoderma 11.2
12 skin disease 10.5
13 acrokeratoderma, hereditary papulotranslucent 10.4 KRT9 KRT1 AQP5
14 tylosis with esophageal cancer 10.4
15 palmoplantar keratoderma, punctate type ia 10.4
16 bacterial infectious disease 10.4
17 diphtheria 10.4
18 ectodermal dysplasia 10.4
19 median rhomboid glossitis 10.4 KRT17 KRT16
20 steatocystoma multiplex 10.3 KRT17 KRT16 KRT1
21 pachyonychia congenita 2 10.3 KRT17 KRT16
22 acanthoma 10.3 MTOR KRT17 KRT1
23 skin squamous cell carcinoma 10.3 KRT17 KRT1 AKT1
24 diffuse palmoplantar keratoderma 10.2 KRT9 KRT1
25 subependymal glioma 10.2 RPS6KB1 MTOR AKT1
26 placental choriocarcinoma 10.2 RPS6KB1 INS AKT1
27 epidermolytic hyperkeratosis 10.2 KRT9 KRT17 KRT16 KRT1
28 tuberous sclerosis 1 10.2 RPS6KB1 MTOR AKT1
29 prediabetes syndrome 10.1 SLC2A4 IRS1 INS
30 esophageal cancer 10.1
31 ichthyosis 10.1
32 epidermolysis bullosa 10.1
33 barrett's adenocarcinoma 10.1
34 psoriasis 10.1
35 large cell acanthoma 10.1 MTOR KRT17
36 pre-malignant neoplasm 10.1 KRT17 AKT1 ACTB
37 tuberous sclerosis 2 10.1 RPS6KB1 MTOR IRS1 AKT1
38 cardiomyopathy, familial hypertrophic, 25 10.1 MAPK8 EIF2AK3 ACTB
39 insulin-like growth factor i 10.1 IRS2 IRS1 INS AKT1
40 proteus syndrome 10.1 PLEK MTOR AKT1
41 diabetic encephalopathy 10.1 SLC2A4 IRS1 INS AKT1
42 skin papilloma 10.0 MAPK8 KRT1 AKT1 ACTB
43 integumentary system disease 10.0 KRT1 INS AKT1 ACTB
44 hair disease 10.0 INS AKT1 ACTB
45 glucose metabolism disease 10.0 SLC2A4 IRS1 INS AKT1
46 epidermolytic acanthoma 10.0 KRT9 KRT1
47 gestational diabetes 10.0 SLC2A4 IRS2 IRS1 INS
48 acquired metabolic disease 10.0 SLC2A4 IRS1 INS AKT1
49 leptin deficiency or dysfunction 10.0 SLC2A4 IRS2 IRS1 INS
50 retinal vascular disease 10.0 INS AKT1 ACTB

Graphical network of the top 20 diseases related to Palmoplantar Keratoderma, Bothnian Type:



Diseases related to Palmoplantar Keratoderma, Bothnian Type

Symptoms & Phenotypes for Palmoplantar Keratoderma, Bothnian Type

Human phenotypes related to Palmoplantar Keratoderma, Bothnian 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 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
3 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066
4 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
5 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
6 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042

Symptoms via clinical synopsis from OMIM:

56
Skin:
diffuse palmoplantar keratoderma

Misc:
frequently associated with fungal infections

Clinical features from OMIM:

600231

GenomeRNAi Phenotypes related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

26 (show all 43)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.41 MTOR ACTB
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.41 PIK3CB
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-145 10.41 KRT17
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10.41 RPS6KB1
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.41 AKT1 MTOR
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-166 10.41 KRT17
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.41 MTOR
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.41 AKT1
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10.41 EIF2AK3
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-201 10.41 ACTB
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.41 RPS6KB1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.41 EIF2AK3
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.41 AKT1 MTOR
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.41 AKT1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-51 10.41 PIK3CB
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 10.41 ACTB
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.41 MTOR
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.41 PIK3CB ACTB
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.41 MTOR
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.41 AKT1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-82 10.41 KRT1
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.41 RPS6KB1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-87 10.41 KRT1
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 10.41 PIK3CB
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-92 10.41 EIF2AK3
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.41 PIK3CB
27 Decreased viability GR00055-A-1 10.17 MTOR
28 Decreased viability GR00055-A-2 10.17 MTOR
29 Decreased viability GR00221-A-1 10.17 AKT1 EIF2AK3 IRS1 MAPK8 MTOR PIK3CB
30 Decreased viability GR00221-A-2 10.17 AKT1 EIF2AK3 IRS1 MAPK8
31 Decreased viability GR00221-A-3 10.17 AKT1 PIK3CB
32 Decreased viability GR00221-A-4 10.17 AKT1 EIF2AK3 MTOR PIK3CB
33 Decreased viability GR00249-S 10.17 AKT1
34 Decreased viability GR00301-A 10.17 RPS6KB1
35 Decreased viability GR00342-S-1 10.17 MTOR
36 Decreased viability GR00342-S-2 10.17 IRS1 MAPK8 MTOR
37 Decreased viability GR00342-S-3 10.17 IRS1 MAPK8
38 Decreased viability GR00381-A-1 10.17 PIK3CB RPS6KB1
39 Decreased viability GR00386-A-1 10.17 IRS1
40 Decreased viability GR00402-S-2 10.17 MAPK8 PIK3CB RPS6KB1
41 Decreased viability with paclitaxel GR00179-A-1 9.02 MTOR RPS6KB1
42 Decreased viability with paclitaxel GR00179-A-2 9.02 MTOR
43 Decreased viability with paclitaxel GR00179-A-3 9.02 MTOR RPS6KB1

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Bothnian Type:

45 (show all 11)
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.28 ACTB AKT1 AQP5 EIF2AK3 INS IRS1
2 cellular MP:0005384 10.27 AKT1 EIF2AK3 INS IRS1 IRS2 KRT16
3 homeostasis/metabolism MP:0005376 10.27 ACTB AKT1 AQP5 EIF2AK3 INS IRS1
4 cardiovascular system MP:0005385 10.26 ACTB AKT1 INS IRS1 IRS2 KRT1
5 endocrine/exocrine gland MP:0005379 10.25 ACTB AKT1 AQP5 EIF2AK3 INS IRS1
6 adipose tissue MP:0005375 10.15 ACTB AKT1 INS IRS1 IRS2 MAPK8
7 immune system MP:0005387 10.1 ACTB AKT1 EIF2AK3 INS IRS1 IRS2
8 mortality/aging MP:0010768 10.06 ACTB AKT1 AQP5 EIF2AK3 INS IRS1
9 liver/biliary system MP:0005370 9.96 ACTB AKT1 EIF2AK3 INS IRS1 IRS2
10 muscle MP:0005369 9.65 ACTB AKT1 AQP5 INS IRS1 IRS2
11 neoplasm MP:0002006 9.17 ACTB AKT1 EIF2AK3 MAPK8 NCOA5 PIK3CB

Drugs & Therapeutics for Palmoplantar Keratoderma, Bothnian Type

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

Cochrane evidence based reviews: keratoderma, palmoplantar, epidermolytic

Genetic Tests for Palmoplantar Keratoderma, Bothnian Type

Genetic tests related to Palmoplantar Keratoderma, Bothnian Type:

# Genetic test Affiliating Genes
1 Palmoplantar Keratoderma, Bothnian Type 29 AQP5

Anatomical Context for Palmoplantar Keratoderma, Bothnian Type

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

40
Skin, Colon, Adipocyte

Publications for Palmoplantar Keratoderma, Bothnian Type

Articles related to Palmoplantar Keratoderma, Bothnian Type:

(show all 13)
# Title Authors PMID Year
1
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. 6 56
23830519 2013
2
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. 6 56
7531539 1994
3
PKB-mediated PHF20 phosphorylation on Ser291 is required for p53 function in DNA damage. 61
22975685 2013
4
Dietary supplementation of lutein reduces colon carcinogenesis in DMH-treated rats by modulating K-ras, PKB, and β-catenin proteins. 61
21128180 2011
5
Inhibition of glycolysis enhances cisplatin-induced apoptosis in ovarian cancer cells. 61
20138251 2010
6
Insulin-induced formation of macromolecular complexes involved in activation of cyclic nucleotide phosphodiesterase 3B (PDE3B) and its interaction with PKB. 61
17324123 2007
7
Insulin resistance induced by high glucose and high insulin precedes insulin receptor substrate 1 protein depletion in human adipocytes. 61
17224332 2007
8
Resveratrol modulates the phosphoinositide 3-kinase pathway through an estrogen receptor alpha-dependent mechanism: relevance in cell proliferation. 61
14750165 2004
9
Effects of the epidermal growth factor receptor inhibitor OSI-774, Tarceva, on downstream signaling pathways and apoptosis in human pancreatic adenocarcinoma. 61
12492110 2002
10
High-resolution transcript map of the region spanning D12S1629 and D12S312 at chromosome 12q13: triple A syndrome-linked region. 61
11042153 2000
11
Mutations in the 1A rod domain segment of the keratin 9 gene in epidermolytic palmoplantar keratoderma. 54
9833037 1998
12
Human keratin diseases: hereditary fragility of specific epithelial tissues. 54
9028791 1996
13
Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity. 54
7544664 1995

Variations for Palmoplantar Keratoderma, Bothnian Type

ClinVar genetic disease variations for Palmoplantar Keratoderma, Bothnian Type:

6 (show all 47) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KRT1 NM_006121.4(KRT1):c.221A>T (p.Lys74Ile)SNV Pathogenic 15910 rs57977969 12:53073912-53073912 12:52680128-52680128
2 KRT1 KRT1, IVS1, T-A, +2SNV Pathogenic 15916
3 KRT1 KRT1, 24-BP DEL, NT1376deletion Pathogenic 15917
4 AQP5 NM_001651.4(AQP5):c.113C>A (p.Ala38Glu)SNV Pathogenic 65478 rs398123054 12:50355913-50355913 12:49962130-49962130
5 AQP5 NM_001651.4(AQP5):c.562C>T (p.Arg188Cys)SNV Pathogenic 65479 rs368292687 12:50357908-50357908 12:49964125-49964125
6 AQP5 NM_001651.4(AQP5):c.134T>G (p.Ile45Ser)SNV Pathogenic 65480 rs398123055 12:50355934-50355934 12:49962151-49962151
7 AQP5 NM_001651.4(AQP5):c.529A>T (p.Ile177Phe)SNV Pathogenic 65481 rs398123056 12:50357875-50357875 12:49964092-49964092
8 AQP5 NM_001651.4(AQP5):c.367A>G (p.Asn123Asp)SNV Pathogenic 65482 rs398123057 12:50357278-50357278 12:49963495-49963495
9 KRT1 NM_006121.4(KRT1):c.982A>T (p.Thr328Ser)SNV Conflicting interpretations of pathogenicity 309648 rs139428176 12:53071246-53071246 12:52677462-52677462
10 KRT1 NM_006121.4(KRT1):c.*372G>ASNV Uncertain significance 309631 rs886049633 12:53068605-53068605 12:52674821-52674821
11 KRT1 NM_006121.4(KRT1):c.374G>A (p.Gly125Asp)SNV Uncertain significance 309653 rs886049636 12:53073759-53073759 12:52679975-52679975
12 KRT1 NM_006121.4(KRT1):c.302G>T (p.Gly101Val)SNV Uncertain significance 309654 rs147840212 12:53073831-53073831 12:52680047-52680047
13 KRT1 NM_006121.4(KRT1):c.*72G>TSNV Uncertain significance 883407 12:53068905-53068905 12:52675121-52675121
14 KRT1 NM_006121.4(KRT1):c.1666G>A (p.Gly556Ser)SNV Uncertain significance 881053 12:53069246-53069246 12:52675462-52675462
15 KRT1 NM_006121.4(KRT1):c.1564G>A (p.Gly522Ser)SNV Uncertain significance 881054 12:53069348-53069348 12:52675564-52675564
16 KRT1 NM_006121.4(KRT1):c.1358A>C (p.Gln453Pro)SNV Uncertain significance 883452 12:53070176-53070176 12:52676392-52676392
17 KRT1 NM_006121.4(KRT1):c.1002T>C (p.Asn334=)SNV Uncertain significance 881095 12:53071226-53071226 12:52677442-52677442
18 KRT1 NM_006121.4(KRT1):c.729C>T (p.Asp243=)SNV Uncertain significance 881567 12:53072403-53072403 12:52678619-52678619
19 KRT1 NM_006121.4(KRT1):c.*275G>ASNV Uncertain significance 309633 rs886049634 12:53068702-53068702 12:52674918-52674918
20 KRT1 NM_006121.4(KRT1):c.477G>C (p.Gln159His)SNV Uncertain significance 309652 rs886049635 12:53073656-53073656 12:52679872-52679872
21 KRT1 NM_006121.4(KRT1):c.257G>A (p.Arg86His)SNV Uncertain significance 309655 rs886049637 12:53073876-53073876 12:52680092-52680092
22 KRT1 NM_006121.4(KRT1):c.1475+14G>ASNV Likely benign 309643 rs369324638 12:53070045-53070045 12:52676261-52676261
23 KRT1 NM_006121.4(KRT1):c.1074C>T (p.Tyr358=)SNV Benign/Likely benign 309645 rs150503977 12:53071154-53071154 12:52677370-52677370
24 KRT1 NM_006121.4(KRT1):c.1912A>G (p.Thr638Ala)SNV Benign/Likely benign 309636 rs140098565 12:53069000-53069000 12:52675216-52675216
25 KRT1 NM_006121.4(KRT1):c.1482T>C (p.Ser494=)SNV Benign/Likely benign 309642 rs181516749 12:53069522-53069522 12:52675738-52675738
26 KRT1 NM_006121.4(KRT1):c.1527C>T (p.His509=)SNV Benign/Likely benign 309640 rs371428130 12:53069385-53069385 12:52675601-52675601
27 KRT1 NM_006121.4(KRT1):c.1107C>T (p.Ala369=)SNV Benign/Likely benign 309644 rs183980482 12:53071121-53071121 12:52677337-52677337
28 KRT1 NM_006121.4(KRT1):c.45G>A (p.Gly15=)SNV Benign/Likely benign 883502 12:53074088-53074088 12:52680304-52680304
29 KRT1 NM_006121.4(KRT1):c.1511-11T>CSNV Benign/Likely benign 881514 12:53069412-53069412 12:52675628-52675628
30 KRT1 NM_006121.4(KRT1):c.113G>A (p.Arg38His)SNV Benign/Likely benign 309656 rs34787940 12:53074020-53074020 12:52680236-52680236
31 KRT1 NM_006121.4(KRT1):c.*95G>ASNV Benign 309634 rs144520865 12:53068882-53068882 12:52675098-52675098
32 KRT1 NM_006121.4(KRT1):c.1898A>G (p.Lys633Arg)SNV Benign 309637 rs14024 12:53069014-53069014 12:52675230-52675230
33 KRT1 NM_006121.4(KRT1):c.-21C>TSNV Benign 309657 rs189087382 12:53074153-53074153 12:52680369-52680369
34 KRT1 NM_006121.4(KRT1):c.1294C>T (p.Arg432Cys)SNV Benign 883453 12:53070240-53070240 12:52676456-52676456
35 KRT1 NM_006121.4(KRT1):c.1360G>T (p.Ala454Ser)SNV Benign 66621 rs17678945 12:53070174-53070174 12:52676390-52676390
36 KRT1 NM_006121.4(KRT1):c.1389C>T (p.Arg463=)SNV Benign 66623 rs936958 12:53070145-53070145 12:52676361-52676361
37 KRT1 NM_006121.4(KRT1):c.75C>T (p.Ile25=)SNV Benign 66664 rs828367 12:53074058-53074058 12:52680274-52680274
38 KRT1 NM_006121.4(KRT1):c.*91T>CSNV Benign 309635 rs560913567 12:53068886-53068886 12:52675102-52675102
39 KRT1 NM_006121.4(KRT1):c.592-8G>ASNV Benign 309651 rs147622831 12:53072548-53072548 12:52678764-52678764
40 KRT1 NM_006121.4(KRT1):c.741T>C (p.Ser247=)SNV Benign 309650 rs56895471 12:53072391-53072391 12:52678607-52678607
41 KRT1 NM_006121.4(KRT1):c.*344C>TSNV Benign 309632 rs11170231 12:53068633-53068633 12:52674849-52674849
42 KRT1 NM_006121.4(KRT1):c.1677C>T (p.Tyr559=)SNV Benign 309638 rs11170232 12:53069235-53069235 12:52675451-52675451
43 KRT1 NM_006121.4(KRT1):c.1506T>C (p.Ser502=)SNV Benign 309641 rs34154891 12:53069498-53069498 12:52675714-52675714
44 KRT1 NM_006121.4(KRT1):c.1669A>G (p.Ser557Gly)SNV Benign 309639 rs77846840 12:53069243-53069243 12:52675459-52675459
45 KRT1 NM_006121.4(KRT1):c.1035C>T (p.Leu345=)SNV Benign 309646 rs192365492 12:53071193-53071193 12:52677409-52677409
46 KRT1 NM_006121.4(KRT1):c.1031G>A (p.Ser344Asn)SNV Benign 309647 rs769218372 12:53071197-53071197 12:52677413-52677413
47 KRT1 NM_006121.4(KRT1):c.762G>A (p.Ser254=)SNV Benign 309649 rs2741155 12:53072370-53072370 12:52678586-52678586

UniProtKB/Swiss-Prot genetic disease variations for Palmoplantar Keratoderma, Bothnian Type:

73
# Symbol AA change Variation ID SNP ID
1 AQP5 p.Ala38Glu VAR_070442 rs398123054
2 AQP5 p.Ile45Ser VAR_070443 rs398123055
3 AQP5 p.Asn123Asp VAR_070444 rs398123057
4 AQP5 p.Ile177Phe VAR_070445 rs398123056
5 AQP5 p.Arg188Cys VAR_070446 rs368292687

Expression for Palmoplantar Keratoderma, Bothnian Type

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

Pathways for Palmoplantar Keratoderma, Bothnian Type

Pathways related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

(show top 50) (show all 116)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.62 RPS6KB1 PIK3CB MTOR MAPK8 IRS2 IRS1
2
Show member pathways
13.56 SLC2A4 PIK3CB KRT9 KRT17 KRT16 KRT1
3
Show member pathways
13.48 SLC2A4 RPS6KB1 MTOR MAPK8 IRS1 AKT1
4
Show member pathways
13.37 RPS6KB1 PIK3CB MTOR MAPK8 IRS2 IRS1
5
Show member pathways
13.3 SLC2A4 RPS6KB1 MTOR MAPK8 IRS2 IRS1
6
Show member pathways
13.26 PIK3CB MTOR MAPK8 IRS2 IRS1 INS
7
Show member pathways
13.19 PIK3CB MTOR IRS2 IRS1 INS AKT1
8
Show member pathways
13.16 RPS6KB1 PIK3CB MTOR MAPK8 IRS1 AKT1
9
Show member pathways
13.13 RPS6KB1 MTOR MAPK8 IRS1 INS AKT1
10
Show member pathways
13.07 RPS6KB1 PIK3CB MTOR IRS1 INS AKT1
11
Show member pathways
12.97 RPS6KB1 PIK3CB MTOR MAPK8 IRS1 INS
12
Show member pathways
12.92 SLC2A4 RPS6KB1 PIK3CB MTOR MAPK8 IRS2
13 12.91 RPS6KB1 PIK3CB MTOR MAPK8 AKT1
14
Show member pathways
12.89 SLC2A4 RPS6KB1 MTOR MAPK8 IRS2 IRS1
15
Show member pathways
12.88 PIK3CB MAPK8 EIF2AK3 AKT1 ACTB
16
Show member pathways
12.85 SLC2A4 RPS6KB1 PIK3CB MTOR IRS2 IRS1
17
Show member pathways
12.84 RPS6KB1 PIK3CB MTOR AKT1 ACTB
18
Show member pathways
12.81 PIK3CB MAPK8 INS AKT1 ACTB
19
Show member pathways
12.81 PIK3CB MTOR IRS2 IRS1 INS AKT1
20
Show member pathways
12.79 PIK3CB MTOR MAPK8 IRS1 AKT1
21
Show member pathways
12.79 SLC2A4 RPS6KB1 PIK3CB MTOR MAPK8 IRS2
22
Show member pathways
12.78 PIK3CB MAPK8 EIF2AK3 AKT1 ACTB
23
Show member pathways
12.77 RPS6KB1 PIK3CB MTOR MAPK8 IRS1 AKT1
24
Show member pathways
12.73 RPS6KB1 PIK3CB MTOR MAPK8 AKT1
25
Show member pathways
12.71 RPS6KB1 PIK3CB MTOR MAPK8 AKT1
26
Show member pathways
12.69 RPS6KB1 PIK3CB MTOR MAPK8 AKT1
27
Show member pathways
12.68 RPS6KB1 PIK3CB MAPK8 IRS2 AKT1
28
Show member pathways
12.66 RPS6KB1 PIK3CB MAPK8 IRS1 AKT1
29 12.62 SLC2A4 IRS2 IRS1 INS AKT1
30
Show member pathways
12.62 PIK3CB MTOR MAPK8 KRT9 KRT17 KRT16
31
Show member pathways
12.61 RPS6KB1 PIK3CB MTOR IRS1 INS AKT1
32
Show member pathways
12.56 PIK3CB MTOR MAPK8 AKT1
33
Show member pathways
12.55 MTOR IRS2 IRS1 AKT1
34
Show member pathways
12.55 SLC2A4 RPS6KB1 PIK3CB MTOR IRS2 IRS1
35
Show member pathways
12.54 KRT9 KRT17 KRT16 KRT1
36
Show member pathways
12.54 RPS6KB1 PIK3CB MTOR MAPK8 AKT1
37
Show member pathways
12.53 RPS6KB1 PIK3CB MTOR IRS2 IRS1 AKT1
38
Show member pathways
12.53 RPS6KB1 PIK3CB MTOR MAPK8 IRS2 IRS1
39
Show member pathways
12.52 RPS6KB1 PIK3CB MTOR MAPK8 INS AKT1
40
Show member pathways
12.51 PIK3CB MTOR MAPK8 AKT1
41 12.51 RPS6KB1 PIK3CB MTOR MAPK8 AKT1 ACTB
42
Show member pathways
12.5 RPS6KB1 PIK3CB MTOR IRS2 IRS1 AKT1
43
Show member pathways
12.43 PIK3CB MAPK8 INS AKT1
44 12.41 RPS6KB1 PIK3CB MTOR AKT1 ACTB
45
Show member pathways
12.39 RPS6KB1 MTOR IRS1 AKT1
46
Show member pathways
12.39 SLC2A4 RPS6KB1 PIK3CB MTOR MAPK8 IRS2
47
Show member pathways
12.38 MTOR MAPK8 IRS1 AKT1
48
Show member pathways
12.33 RPS6KB1 PIK3CB MTOR IRS1 AKT1
49
Show member pathways
12.31 PIK3CB MAPK8 IRS2 IRS1 AKT1
50
Show member pathways
12.3 MAPK8 IRS1 AKT1 ACTB

GO Terms for Palmoplantar Keratoderma, Bothnian Type

Cellular components related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.47 SLC2A4 RPS6KB1 PLEK PIK3CB MTOR MAPK8
2 intermediate filament GO:0005882 9.26 KRT9 KRT17 KRT16 KRT1

Biological processes related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

(show all 38)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.09 RPS6KB1 PIK3CB MTOR MAPK8 EIF2AK3 AKT1
2 positive regulation of gene expression GO:0010628 10.01 PIK3CB MTOR MAPK8 INS EIF2AK3 AKT1
3 keratinization GO:0031424 9.92 KRT9 KRT17 KRT16 KRT1
4 cornification GO:0070268 9.85 KRT9 KRT17 KRT16 KRT1
5 positive regulation of protein kinase B signaling GO:0051897 9.85 PIK3CB MTOR IRS2 IRS1 INS
6 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.84 PIK3CB IRS2 INS
7 positive regulation of cell growth GO:0030307 9.83 KRT17 INS AKT1
8 positive regulation of translation GO:0045727 9.83 RPS6KB1 MTOR KRT17
9 negative regulation of protein binding GO:0032091 9.82 MAPK8 AKT1 ACTB
10 regulation of protein localization GO:0032880 9.81 MAPK8 INS AKT1
11 insulin receptor signaling pathway GO:0008286 9.81 IRS2 IRS1 INS AKT1
12 peptidyl-threonine phosphorylation GO:0018107 9.8 MTOR MAPK8 AKT1
13 glucose metabolic process GO:0006006 9.8 IRS2 INS AKT1
14 peptidyl-serine phosphorylation GO:0018105 9.8 RPS6KB1 MTOR MAPK8 EIF2AK3 AKT1
15 platelet aggregation GO:0070527 9.77 PLEK PIK3CB ACTB
16 cellular response to amino acid starvation GO:0034198 9.77 MTOR MAPK8 EIF2AK3
17 phosphatidylinositol 3-kinase signaling GO:0014065 9.75 PIK3CB IRS1 AKT1
18 negative regulation of insulin receptor signaling pathway GO:0046627 9.74 RPS6KB1 NCOA5 IRS1
19 activation of protein kinase B activity GO:0032148 9.73 MTOR INS AKT1
20 positive regulation of protein localization to nucleus GO:1900182 9.7 INS EIF2AK3 AKT1
21 negative regulation of macroautophagy GO:0016242 9.68 MTOR AKT1
22 ruffle organization GO:0031529 9.67 PLEK MTOR
23 negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902176 9.67 INS AKT1
24 TOR signaling GO:0031929 9.67 RPS6KB1 MTOR AKT1
25 phosphatidylinositol-mediated signaling GO:0048015 9.67 RPS6KB1 PIK3CB IRS2 IRS1
26 regulation of glycogen biosynthetic process GO:0005979 9.66 MTOR AKT1
27 anoikis GO:0043276 9.65 MTOR AKT1
28 positive regulation of lipid biosynthetic process GO:0046889 9.65 MTOR INS AKT1
29 glucose homeostasis GO:0042593 9.65 SLC2A4 NCOA5 IRS1 INS AKT1
30 negative regulation of cell size GO:0045792 9.64 MTOR AKT1
31 positive regulation of fatty acid beta-oxidation GO:0032000 9.64 IRS2 IRS1
32 regulation of transmembrane transporter activity GO:0022898 9.61 INS ACTB
33 insulin-like growth factor receptor signaling pathway GO:0048009 9.61 IRS1 EIF2AK3 AKT1
34 negative regulation of plasma membrane long-chain fatty acid transport GO:0010748 9.58 IRS2 AKT1
35 positive regulation of glucose metabolic process GO:0010907 9.5 IRS2 IRS1 AKT1
36 positive regulation of glucose import GO:0046326 9.46 IRS2 IRS1 INS AKT1
37 cellular response to insulin stimulus GO:0032869 9.35 SLC2A4 RPS6KB1 IRS2 IRS1 AKT1
38 positive regulation of glycogen biosynthetic process GO:0045725 8.92 IRS2 IRS1 INS AKT1

Molecular functions related to Palmoplantar Keratoderma, Bothnian Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.72 RPS6KB1 MTOR MAPK8 EIF2AK3 AKT1
2 protein serine/threonine kinase activity GO:0004674 9.65 RPS6KB1 MTOR MAPK8 EIF2AK3 AKT1
3 structural constituent of cytoskeleton GO:0005200 9.54 KRT9 KRT16 ACTB
4 kinase activity GO:0016301 9.43 RPS6KB1 PIK3CB MTOR MAPK8 EIF2AK3 AKT1
5 protein kinase C binding GO:0005080 9.33 PLEK IRS1 AKT1
6 insulin receptor binding GO:0005158 8.8 IRS2 IRS1 INS

Sources for Palmoplantar Keratoderma, Bothnian Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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