PPKB
MCID: PLM135
MIFTS: 48

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 57 20 36 29 6
Diffuse Palmoplantar Keratoderma, Bothnian Type 12 20 58 71
Ppkb 57 12 20 73
Non-Epidermolytic Palmoplantar Keratoderma 58 36
Keratoderma, Palmoplantar, Bothnian Type 73 39
Bothnian Type Palmoplantar Keratoderma 12 15
Autosomal Dominant Diffuse Palmoplantar Keratoderma, Norrbotten Type 58
Palmoplantar Keratoderma, Nonepidermolytic 71
Keratoderma, Palmoplantar, Epidermolytic 44
Neppk 58

Characteristics:

Orphanet epidemiological data:

58
non-epidermolytic palmoplantar keratoderma
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 05-Mar-2021)
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® 57 600231
MeSH 44 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® : 57 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) (Updated 05-Mar-2021)

MalaCards based summary : Palmoplantar Keratoderma, Bothnian Type, also known as diffuse palmoplantar keratoderma, bothnian type, is related to palmoplantar keratoderma, nonepidermolytic, focal or diffuse and naxos disease. 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 colon, and related phenotypes are diffuse palmoplantar keratoderma and skin ulcer

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 79)
# Related Disease Score Top Affiliating Genes
1 palmoplantar keratoderma, nonepidermolytic, focal or diffuse 11.5
2 naxos disease 11.5
3 palmoplantar keratoderma, nonepidermolytic 11.3
4 unna-thost palmoplantar keratoderma 10.9
5 skin disease 10.4
6 combined hepatocellular carcinoma and cholangiocarcinoma 10.2 MTOR AKT1
7 tylosis with esophageal cancer 10.2
8 palmoplantar keratoderma, punctate type ia 10.2
9 bacterial infectious disease 10.2
10 diphtheria 10.2
11 ectodermal dysplasia 10.2
12 acute laryngopharyngitis 10.2 RPS6KB1 IRS1
13 subependymal glioma 10.1 RPS6KB1 MTOR AKT1
14 benign ependymoma 10.1 RPS6KB1 MTOR AKT1
15 donohue syndrome 10.1 IRS2 IRS1 INS
16 pyriform sinus cancer 10.1 RPS6KB1 MTOR
17 prediabetes syndrome 10.0 SLC2A4 IRS1 INS
18 palmoplantar keratoderma, nonepidermolytic, focal 1 10.0
19 palmoplantar keratosis 10.0
20 abdominal obesity-metabolic syndrome quantitative trait locus 2 10.0 SLC2A4 INS
21 insulin-like growth factor i 10.0 IRS2 IRS1 INS AKT1
22 tuberous sclerosis 1 10.0 RPS6KB1 MTOR IRS1 AKT1
23 tuberous sclerosis 2 10.0 RPS6KB1 MTOR IRS1 AKT1
24 placental choriocarcinoma 10.0 RPS6KB1 MTOR INS AKT1
25 diabetic encephalopathy 10.0 SLC2A4 IRS1 INS AKT1
26 estrogen-receptor positive breast cancer 10.0 MTOR MAPK3 AKT1
27 hypotrichosis 1 10.0 INS AKT1 ACTB
28 hair disease 10.0 INS AKT1 ACTB
29 hyperglycemia 10.0 IRS2 IRS1 INS AKT1
30 overnutrition 9.9 SLC2A4 IRS1 INS AKT1
31 acquired metabolic disease 9.9 SLC2A4 IRS1 INS AKT1
32 respiratory system benign neoplasm 9.9 MAPK3 AKT1 ACTB
33 proteus syndrome 9.9 PLEK MTOR AKT1
34 gestational diabetes 9.9 SLC2A4 IRS2 IRS1 INS
35 non-alcoholic steatohepatitis 9.9 SLC2A4 MTOR IRS1 INS
36 inherited metabolic disorder 9.9 INS AKT1 ACTB
37 toxic encephalopathy 9.9 MAPK3 AKT1 ACTB
38 esophageal cancer 9.9
39 palmoplantar keratoderma, epidermolytic 9.9
40 pachyonychia congenita 1 9.9
41 keratosis 9.9
42 ichthyosis 9.9
43 epidermolysis bullosa 9.9
44 epidermolysis bullosa simplex 9.9
45 barrett's adenocarcinoma 9.9
46 psoriasis 9.9
47 focal palmoplantar keratoderma 9.9
48 integumentary system disease 9.9 INS AKT1 ACTB
49 kidney angiomyolipoma 9.9 RPS6KB1 MTOR
50 thyroid gland follicular carcinoma 9.9 MAPK3 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 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
3 erythema 58 31 frequent (33%) Frequent (79-30%) HP:0010783
4 papule 58 31 frequent (33%) Frequent (79-30%) HP:0200034
5 pruritus 58 31 frequent (33%) Frequent (79-30%) HP:0000989
6 abnormal blistering of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0008066

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skin:
diffuse palmoplantar keratoderma

Misc:
frequently associated with fungal infections

Clinical features from OMIM®:

600231 (Updated 05-Mar-2021)

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

26 (show top 50) (show all 55)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 10.54 MTOR
2 Decreased viability GR00055-A-2 10.54 MTOR
3 Decreased viability GR00221-A-1 10.54 AKT1 EIF2AK3 MTOR PIK3CB IRS1 RPS6KB1
4 Decreased viability GR00221-A-2 10.54 AKT1 EIF2AK3 IRS1
5 Decreased viability GR00221-A-3 10.54 AKT1 PIK3CB
6 Decreased viability GR00221-A-4 10.54 AKT1 EIF2AK3 MAPK3 MTOR PIK3CB
7 Decreased viability GR00249-S 10.54 AKT1
8 Decreased viability GR00301-A 10.54 RPS6KB1
9 Decreased viability GR00342-S-1 10.54 MTOR
10 Decreased viability GR00342-S-2 10.54 MTOR IRS1
11 Decreased viability GR00342-S-3 10.54 IRS1
12 Decreased viability GR00381-A-1 10.54 PIK3CB RPS6KB1
13 Decreased viability GR00386-A-1 10.54 IRS1
14 Decreased viability GR00402-S-2 10.54 MAPK3 PIK3CB RPS6KB1
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-11 10.52 MTOR
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-112 10.52 PIK3CB
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-15 10.52 RPS6KB1
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-16 10.52 AKT1 MTOR
19 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 10.52 MTOR
20 Decreased shRNA abundance (Z-score < -2) GR00366-A-177 10.52 AKT1
21 Decreased shRNA abundance (Z-score < -2) GR00366-A-19 10.52 EIF2AK3
22 Decreased shRNA abundance (Z-score < -2) GR00366-A-214 10.52 RPS6KB1
23 Decreased shRNA abundance (Z-score < -2) GR00366-A-27 10.52 EIF2AK3
24 Decreased shRNA abundance (Z-score < -2) GR00366-A-42 10.52 AKT1 MTOR
25 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 10.52 AKT1
26 Decreased shRNA abundance (Z-score < -2) GR00366-A-51 10.52 PIK3CB
27 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 10.52 SLC2A4
28 Decreased shRNA abundance (Z-score < -2) GR00366-A-53 10.52 MTOR
29 Decreased shRNA abundance (Z-score < -2) GR00366-A-57 10.52 PIK3CB
30 Decreased shRNA abundance (Z-score < -2) GR00366-A-73 10.52 MTOR
31 Decreased shRNA abundance (Z-score < -2) GR00366-A-79 10.52 AKT1
32 Decreased shRNA abundance (Z-score < -2) GR00366-A-86 10.52 RPS6KB1
33 Decreased shRNA abundance (Z-score < -2) GR00366-A-9 10.52 PIK3CB
34 Decreased shRNA abundance (Z-score < -2) GR00366-A-92 10.52 EIF2AK3
35 Decreased shRNA abundance (Z-score < -2) GR00366-A-93 10.52 PIK3CB
36 Increased shRNA abundance (Z-score > 2) GR00366-A-105 9.7 MTOR
37 Increased shRNA abundance (Z-score > 2) GR00366-A-134 9.7 PIK3CB
38 Increased shRNA abundance (Z-score > 2) GR00366-A-16 9.7 EIF2AK3
39 Increased shRNA abundance (Z-score > 2) GR00366-A-189 9.7 EIF2AK3 RPS6KB1
40 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.7 RPS6KB1
41 Increased shRNA abundance (Z-score > 2) GR00366-A-205 9.7 EIF2AK3
42 Increased shRNA abundance (Z-score > 2) GR00366-A-213 9.7 AKT1
43 Increased shRNA abundance (Z-score > 2) GR00366-A-214 9.7 EIF2AK3
44 Increased shRNA abundance (Z-score > 2) GR00366-A-22 9.7 PIK3CB
45 Increased shRNA abundance (Z-score > 2) GR00366-A-26 9.7 RPS6KB1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-50 9.7 RPS6KB1
47 Increased shRNA abundance (Z-score > 2) GR00366-A-58 9.7 EIF2AK3
48 Increased shRNA abundance (Z-score > 2) GR00366-A-60 9.7 AKT1 EIF2AK3 MTOR PIK3CB RPS6KB1
49 Increased shRNA abundance (Z-score > 2) GR00366-A-70 9.7 AKT1
50 Increased shRNA abundance (Z-score > 2) GR00366-A-85 9.7 AKT1 EIF2AK3 MTOR PIK3CB RPS6KB1

MGI Mouse Phenotypes related to Palmoplantar Keratoderma, Bothnian Type:

46 (show all 12)
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 10.27 ACTB AKT1 AQP5 EIF2AK3 INS IRS1
2 cellular MP:0005384 10.26 AKT1 EIF2AK3 INS IRS1 IRS2 MAPK3
3 growth/size/body region MP:0005378 10.25 ACTB AKT1 AQP5 EIF2AK3 INS IRS1
4 cardiovascular system MP:0005385 10.24 ACTB AKT1 INS IRS1 IRS2 MAPK3
5 homeostasis/metabolism MP:0005376 10.21 ACTB AKT1 AQP5 EIF2AK3 INS IRS1
6 adipose tissue MP:0005375 10.11 ACTB AKT1 INS IRS1 IRS2 MTOR
7 hematopoietic system MP:0005397 10.1 ACTB AKT1 INS IRS1 MAPK3 MTOR
8 immune system MP:0005387 10.06 ACTB AKT1 EIF2AK3 INS IRS1 IRS2
9 liver/biliary system MP:0005370 10 ACTB AKT1 EIF2AK3 INS IRS1 IRS2
10 mortality/aging MP:0010768 9.97 ACTB AKT1 AQP5 EIF2AK3 INS IRS1
11 muscle MP:0005369 9.65 ACTB AKT1 AQP5 INS IRS1 IRS2
12 neoplasm MP:0002006 9.17 ACTB AKT1 EIF2AK3 MAPK3 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
Colon

Publications for Palmoplantar Keratoderma, Bothnian Type

Articles related to Palmoplantar Keratoderma, Bothnian Type:

# Title Authors PMID Year
1
Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. 57 6
23830519 2013
2
The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13. 6 57
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

Variations for Palmoplantar Keratoderma, Bothnian Type

ClinVar genetic disease variations for Palmoplantar Keratoderma, Bothnian Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 AQP5 NM_001651.4(AQP5):c.113C>A (p.Ala38Glu) SNV Pathogenic 65478 rs398123054 12:50355913-50355913 12:49962130-49962130
2 AQP5 NM_001651.4(AQP5):c.562C>T (p.Arg188Cys) SNV Pathogenic 65479 rs368292687 12:50357908-50357908 12:49964125-49964125
3 AQP5 NM_001651.4(AQP5):c.134T>G (p.Ile45Ser) SNV Pathogenic 65480 rs398123055 12:50355934-50355934 12:49962151-49962151
4 AQP5 NM_001651.4(AQP5):c.529A>T (p.Ile177Phe) SNV Pathogenic 65481 rs398123056 12:50357875-50357875 12:49964092-49964092
5 AQP5 NM_001651.4(AQP5):c.367A>G (p.Asn123Asp) SNV Pathogenic 65482 rs398123057 12:50357278-50357278 12:49963495-49963495

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 140)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.61 RPS6KB1 PIK3CB MTOR MAPK3 IRS2 IRS1
2
Show member pathways
13.58 SLC2A4 PIK3CB MAPK3 IRS2 IRS1 INS
3
Show member pathways
13.54 PIK3CB MTOR MAPK3 IRS2 IRS1 INS
4
Show member pathways
13.53 THEM4 PIK3CB MTOR MAPK3 IRS2 IRS1
5
Show member pathways
13.48 THEM4 SLC2A4 RPS6KB1 MTOR IRS1 AKT1
6
Show member pathways
13.38 RPS6KB1 PIK3CB MTOR IRS2 IRS1 INS
7
Show member pathways
13.33 RPS6KB1 MAPK3 EIF2AK3 AQP5 AKT1 ACTB
8
Show member pathways
13.3 SLC2A4 RPS6KB1 MTOR MAPK3 IRS2 IRS1
9
Show member pathways
13.22 THEM4 PIK3CB MTOR MAPK3 IRS2 IRS1
10
Show member pathways
13.16 RPS6KB1 PIK3CB MTOR MAPK3 IRS1 AKT1
11
Show member pathways
13.13 RPS6KB1 MTOR MAPK3 IRS1 INS AKT1
12
Show member pathways
13.08 THEM4 RPS6KB1 PIK3CB MTOR MAPK3 IRS1
13
Show member pathways
12.99 RPS6KB1 PIK3CB MTOR MAPK3 AKT1
14
Show member pathways
12.98 RPS6KB1 PIK3CB MTOR MAPK3 IRS1 INS
15 12.91 RPS6KB1 PIK3CB MTOR MAPK3 AKT1
16
Show member pathways
12.9 PIK3CB MAPK3 EIF2AK3 AKT1 ACTB
17
Show member pathways
12.9 SLC2A4 RPS6KB1 PIK3CB MTOR MAPK3 IRS2
18
Show member pathways
12.88 SLC2A4 RPS6KB1 MTOR MAPK3 IRS2 IRS1
19
Show member pathways
12.87 PIK3CB MAPK3 AKT1 ACTB
20
Show member pathways
12.87 RPS6KB1 PIK3CB MTOR MAPK3 AKT1 ACTB
21
Show member pathways
12.82 PIK3CB MAPK3 INS AKT1 ACTB
22
Show member pathways
12.81 PIK3CB MTOR MAPK3 IRS1 AKT1
23
Show member pathways
12.8 PIK3CB MAPK3 EIF2AK3 AKT1 ACTB
24
Show member pathways
12.79 RPS6KB1 PIK3CB MTOR MAPK3 IRS1 AKT1
25
Show member pathways
12.79 THEM4 PIK3CB MTOR MAPK3 IRS2 IRS1
26
Show member pathways
12.79 SLC2A4 RPS6KB1 PIK3CB MTOR MAPK3 IRS2
27
Show member pathways
12.78 PIK3CB MTOR MAPK3 IRS2 IRS1 AKT1
28
Show member pathways
12.74 RPS6KB1 PIK3CB MTOR MAPK3 AKT1
29
Show member pathways
12.73 SLC2A4 RPS6KB1 PIK3CB MTOR MAPK3 IRS2
30
Show member pathways
12.72 RPS6KB1 PIK3CB MTOR MAPK3 AKT1
31
Show member pathways
12.7 RPS6KB1 PIK3CB MTOR MAPK3 AKT1
32
Show member pathways
12.69 RPS6KB1 PIK3CB MAPK3 IRS2 AKT1
33 12.68 PIK3CB MAPK3 INS ACTB
34
Show member pathways
12.67 RPS6KB1 PIK3CB MAPK3 IRS1 AKT1
35
Show member pathways
12.65 MAPK3 IRS2 IRS1 INS AKT1
36 12.64 PIK3CB MTOR MAPK3 IRS2 IRS1
37
Show member pathways
12.63 RPS6KB1 PIK3CB MAPK3 AKT1
38 12.63 SLC2A4 IRS2 IRS1 INS AKT1
39
Show member pathways
12.61 RPS6KB1 PIK3CB MTOR MAPK3 IRS1 INS
40
Show member pathways
12.59 MTOR MAPK3 IRS2 IRS1 AKT1
41
Show member pathways
12.56 PIK3CB MTOR MAPK3 AKT1
42
Show member pathways
12.56 RPS6KB1 PIK3CB MTOR MAPK3 AKT1
43
Show member pathways
12.54 SLC2A4 RPS6KB1 PIK3CB MTOR IRS2 IRS1
44 12.53 RPS6KB1 PIK3CB MTOR MAPK3 AKT1 ACTB
45
Show member pathways
12.53 RPS6KB1 PIK3CB MTOR MAPK3 INS AKT1
46
Show member pathways
12.5 THEM4 RPS6KB1 PIK3CB MTOR IRS2 IRS1
47
Show member pathways
12.49 RPS6KB1 PIK3CB MTOR MAPK3 IRS2 IRS1
48
Show member pathways
12.48 PIK3CB MAPK3 AKT1 ACTB
49
Show member pathways
12.47 PIK3CB MAPK3 AKT1 ACTB
50
Show member pathways
12.46 RPS6KB1 PIK3CB MTOR MAPK3 IRS2 IRS1

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 cytoplasm GO:0005737 9.93 THEM4 SLC2A4 RPS6KB1 PLEK PIK3CB MTOR
2 cytosol GO:0005829 9.4 THEM4 SLC2A4 RPS6KB1 PLEK PIK3CB MTOR
3 protein-containing complex GO:0032991 9.35 MTOR MAPK3 IRS2 AKT1 ACTB

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

(show all 44)
# Name GO ID Score Top Affiliating Genes
1 phosphorylation GO:0016310 10.08 RPS6KB1 PIK3CB MTOR MAPK3 EIF2AK3 AKT1
2 protein phosphorylation GO:0006468 10.07 RPS6KB1 MTOR MAPK3 EIF2AK3 AKT1
3 positive regulation of gene expression GO:0010628 10 PIK3CB MTOR MAPK3 INS EIF2AK3 AKT1
4 cellular response to hypoxia GO:0071456 9.87 SLC2A4 MTOR AKT1
5 positive regulation of phosphatidylinositol 3-kinase signaling GO:0014068 9.84 PIK3CB IRS2 INS
6 positive regulation of translation GO:0045727 9.83 RPS6KB1 MTOR MAPK3
7 positive regulation of protein kinase B signaling GO:0051897 9.83 PIK3CB MTOR IRS2 IRS1 INS
8 response to insulin GO:0032868 9.82 RPS6KB1 MTOR IRS1
9 negative regulation of protein kinase B signaling GO:0051898 9.81 THEM4 PIK3CB AKT1
10 glucose metabolic process GO:0006006 9.81 IRS2 INS AKT1
11 positive regulation of smooth muscle cell proliferation GO:0048661 9.8 RPS6KB1 MTOR AKT1
12 platelet aggregation GO:0070527 9.8 PLEK PIK3CB ACTB
13 insulin receptor signaling pathway GO:0008286 9.8 IRS2 IRS1 INS AKT1
14 peptidyl-serine phosphorylation GO:0018105 9.8 RPS6KB1 MTOR MAPK3 EIF2AK3 AKT1
15 cellular response to amino acid starvation GO:0034198 9.79 MTOR MAPK3 EIF2AK3
16 protein kinase B signaling GO:0043491 9.77 THEM4 RPS6KB1 AKT1
17 negative regulation of insulin receptor signaling pathway GO:0046627 9.77 RPS6KB1 NCOA5 IRS1
18 germ cell development GO:0007281 9.76 RPS6KB1 MTOR AKT1
19 phosphatidylinositol 3-kinase signaling GO:0014065 9.75 PIK3CB IRS1 AKT1
20 activation of protein kinase B activity GO:0032148 9.74 MTOR INS AKT1
21 positive regulation of protein localization to nucleus GO:1900182 9.73 INS EIF2AK3 AKT1
22 long-term memory GO:0007616 9.72 SLC2A4 RPS6KB1 MTOR
23 positive regulation of nitric-oxide synthase activity GO:0051000 9.71 PIK3CB INS AKT1
24 cellular response to peptide GO:1901653 9.69 IRS2 AKT1
25 positive regulation of cellular protein metabolic process GO:0032270 9.69 INS AKT1
26 TOR signaling GO:0031929 9.69 RPS6KB1 MTOR AKT1
27 negative regulation of macroautophagy GO:0016242 9.68 MTOR AKT1
28 sphingosine-1-phosphate receptor signaling pathway GO:0003376 9.68 PIK3CB AKT1
29 negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway GO:1902176 9.68 INS AKT1
30 ruffle organization GO:0031529 9.68 PLEK MTOR
31 regulation of glycogen biosynthetic process GO:0005979 9.67 MTOR AKT1
32 phosphatidylinositol-mediated signaling GO:0048015 9.67 RPS6KB1 PIK3CB IRS2 IRS1
33 anoikis GO:0043276 9.66 MTOR AKT1
34 negative regulation of cell size GO:0045792 9.66 MTOR AKT1
35 positive regulation of fatty acid beta-oxidation GO:0032000 9.65 IRS2 IRS1
36 positive regulation of lipid biosynthetic process GO:0046889 9.65 MTOR INS AKT1
37 regulation of transmembrane transporter activity GO:0022898 9.64 INS ACTB
38 insulin-like growth factor receptor signaling pathway GO:0048009 9.63 IRS1 EIF2AK3 AKT1
39 negative regulation of plasma membrane long-chain fatty acid transport GO:0010748 9.62 IRS2 AKT1
40 positive regulation of glucose import GO:0046326 9.56 IRS2 IRS1 INS AKT1
41 glucose homeostasis GO:0042593 9.55 SLC2A4 NCOA5 IRS1 INS AKT1
42 positive regulation of glucose metabolic process GO:0010907 9.5 IRS2 IRS1 AKT1
43 cellular response to insulin stimulus GO:0032869 9.35 SLC2A4 RPS6KB1 IRS2 IRS1 AKT1
44 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 nucleotide binding GO:0000166 10 RPS6KB1 PIK3CB MTOR MAPK3 EIF2AK3 AKT1
2 ATP binding GO:0005524 9.95 RPS6KB1 PIK3CB MTOR MAPK3 EIF2AK3 AKT1
3 protein kinase activity GO:0004672 9.77 RPS6KB1 MTOR MAPK3 EIF2AK3 AKT1
4 protein serine/threonine kinase activity GO:0004674 9.65 RPS6KB1 MTOR MAPK3 EIF2AK3 AKT1
5 kinase activity GO:0016301 9.63 RPS6KB1 PIK3CB MTOR MAPK3 EIF2AK3 AKT1
6 identical protein binding GO:0042802 9.56 RPS6KB1 MTOR MAPK3 INS EIF2AK3 AQP5
7 protein kinase C binding GO:0005080 9.5 PLEK IRS1 AKT1
8 insulin-like growth factor receptor binding GO:0005159 9.43 IRS1 INS
9 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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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