MCID: KND001
MIFTS: 52

Kindler Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kindler Syndrome

MalaCards integrated aliases for Kindler Syndrome:

Name: Kindler Syndrome 54 12 23 50 24 25 56 71 13 52 14
Poikiloderma of Kindler 12 50 25 56 42 69
Congenital Bullous Poikiloderma 23 50 25
Bullous Acrokeratotic Poikiloderma of Kindler and Weary 50 71
Hereditary Acrokeratotic Poikiloderma of Kindler-Weary 12 56
Kindler's Syndrome 25 29
Poikiloderma, Congenital, with Bullae, Weary Type 50
Poikiloderma Congenital with Bullae Weary Type 71
Hereditary Acrokeratotic Poikiloderma of Weary 69
Poikiloderma, Hereditary Acrokeratotic 50
Hereditary Acrokeratotic Poikiloderma 24
Poikiloderma Hereditary Acrokeratotic 71
Potassium Deficiency 69
K Deficiency 52
Kndlrs 71
Ks 56

Characteristics:

Orphanet epidemiological data:

56
kindler syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;
hereditary acrokeratotic poikiloderma of kindler-weary
Inheritance: Autosomal dominant,Autosomal recessive; Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency in the ngobe-bugle tribe in the boca del toro province, on the northwestern caribbean coast of panama
skin blistering and photosensitivity improve in adulthood
telangiectases persist in adulthood


HPO:

32
kindler syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 56  
Rare skin diseases


Summaries for Kindler Syndrome

NIH Rare Diseases : 50 kindler syndromeis a rare type of epidermolysis bullosa, a group of inherited conditions that cause fragile and blistering skin. kindler syndrome causes skin to blister beginning in early infancy. other symptoms may include increased sensitivity to light (photosensitivity); patchy discoloration of the the skin and small clusters of blood vessels (poikiloderma); thickening and hardening of the skin on the palms of the hands and soles of the feet (hyperkeratosis); and an increased risk for squamous cell carcinoma. the condition can also affect the moist lining of the mouth, eyes, esophagus, intestines, genitals, and urinary system. kindler syndrome is caused by mutations in the fermt1 gene (also called the kind1 gene) and is inherited in an autosomal recessive manner. treatment consists of avoiding skin injury, limiting sun exposure, and carefully tending to blisters (often with antibiotics). last updated: 11/30/2016

MalaCards based summary : Kindler Syndrome, also known as poikiloderma of kindler, is related to vitamin k deficiency hemorrhagic disease and hereditary acrokeratotic poikiloderma, weary type, and has symptoms including dysphagia, palmoplantar keratoderma and anemia. An important gene associated with Kindler Syndrome is FERMT1 (Fermitin Family Member 1), and among its related pathways/superpathways are Collagen chain trimerization and Degradation of the extracellular matrix. Affiliated tissues include skin, eye and myeloid, and related phenotype is digestive/alimentary.

Disease Ontology : 12 A skin disease characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling.

Genetics Home Reference : 25 Kindler syndrome is a rare type of epidermolysis bullosa, which is a group of genetic conditions that cause the skin to be very fragile and to blister easily.

OMIM : 54
Kindler syndrome is an autosomal recessive dermatosis characterized by congenital blistering, skin atrophy, photosensitivity, skin fragility, and scaling (summary by Jobard et al., 2003). (173650)

UniProtKB/Swiss-Prot : 71 Kindler syndrome: An autosomal recessive skin disorder characterized by skin blistering, photosensitivity, progressive poikiloderma, and extensive skin atrophy. Additional clinical features include gingival erosions, ocular, esophageal, gastrointestinal and urogenital involvement, and an increased risk of mucocutaneous malignancy.

Wikipedia : 72 Kindler syndrome (also known as \"bullous acrokeratotic poikiloderma of kindler and weary\", is a rare... more...

GeneReviews: NBK349072

Related Diseases for Kindler Syndrome

Diseases related to Kindler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
id Related Disease Score Top Affiliating Genes
1 vitamin k deficiency hemorrhagic disease 12.3
2 hereditary acrokeratotic poikiloderma, weary type 12.2
3 kaposi sarcoma 11.5
4 kleefstra syndrome 11.4
5 kallmann syndrome 11.3
6 epidermolysis bullosa 11.2
7 hypogonadotropic hypogonadism 10.9
8 keutel syndrome 10.9
9 kniest dysplasia 10.8
10 congenital disorder of glycosylation, type iil 10.8
11 factor x deficiency 10.8
12 maxillonasal dysplasia, binder type 10.8
13 protein c deficiency 10.8
14 hypogonadotropic hypogonadism 17 with or without anosmia 10.8
15 hypogonadotropic hypogonadism 19 with or without anosmia 10.8
16 hypogonadotropic hypogonadism 16 with or without anosmia 10.8
17 hypogonadotropic hypogonadism 8 with or without anosmia 10.8
18 hypogonadotropic hypogonadism 22, with or without anosmia 10.8
19 hypogonadotropic hypogonadism 3 with or without anosmia 10.8
20 hypogonadotropic hypogonadism 20 with or without anosmia 10.8
21 hypogonadotropic hypogonadism 21 with anosmia 10.8
22 hypogonadotropic hypogonadism 12 with or without anosmia 10.8
23 hypogonadotropic hypogonadism 1 with or without anosmia 10.8
24 hypogonadotropic hypogonadism 13 with or without anosmia 10.8
25 hypogonadotropic hypogonadism 2 with or without anosmia 10.8
26 hypogonadotropic hypogonadism 15 with or without anosmia 10.8
27 hypogonadotropic hypogonadism 5 with or without anosmia 10.8
28 hypogonadotropic hypogonadism 9 with or without anosmia 10.8
29 hypogonadotropic hypogonadism 4 with or without anosmia 10.8
30 hypogonadotropic hypogonadism 6 with or without anosmia 10.8
31 hypogonadotropic hypogonadism 18 with or without anosmia 10.8
32 hypogonadotropic hypogonadism 14 with or without anosmia 10.8
33 hypogonadotropic hypogonadism 7 without anosmia 10.8
34 hypogonadotropic hypogonadism 10 with or without anosmia 10.8
35 hypogonadotropic hypogonadism 11 with or without anosmia 10.8
36 auditory system disease 10.3 FBLIM1 FERMT1
37 sarcoma 10.2
38 squamous cell carcinoma 10.1
39 dental anomalies and short stature 10.0 FERMT1 FERMT3
40 ligneous conjunctivitis 10.0 DST ITGB4
41 lip and oral cavity cancer 10.0 DST ITGB4
42 rectum carcinoma in situ 9.9 COL7A1 DST
43 mucositis 9.9
44 periodontitis 9.9
45 nemaline myopathy 9 9.9 DST ITGB4
46 aplasia cutis congenita recessive 9.9 COL7A1 ITGB4
47 familial nephrotic syndrome 9.9 COL7A1 DST
48 hiv-1 9.8
49 nephrosclerosis 9.8 DST ITGB4
50 hemorrhagic disease 9.8

Graphical network of the top 20 diseases related to Kindler Syndrome:



Diseases related to Kindler Syndrome

Symptoms & Phenotypes for Kindler Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Teeth:
periodontal disease
dental caries

Skin Nails & Hair- Nails:
nail ridging
nail grooving

Skeletal- Hands:
digital webbing

Skin Nails & Hair- Skin:
patchy hypopigmentation
skin fragility
sun sensitivity
patchy hyperpigmentation
hyperkeratosis of palms and soles
more
Genitourinary- External Genitalia Male:
phimosis

Skeletal- Feet:
pseudoainhum of toes


Clinical features from OMIM:

173650

Human phenotypes related to Kindler Syndrome:

56 32 (show top 50) (show all 52)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dysphagia 56 32 frequent (33%) Frequent (79-30%) HP:0002015
2 palmoplantar keratoderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 anemia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001903
4 short 4th metacarpal 56 32 occasional (7.5%) Occasional (29-5%) HP:0010044
5 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
6 milia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001056
7 recurrent skin infections 56 32 frequent (33%) Frequent (79-30%) HP:0001581
8 gingivitis 56 32 frequent (33%) Frequent (79-30%) HP:0000230
9 conjunctivitis 56 32 occasional (7.5%) Occasional (29-5%) HP:0000509
10 squamous cell carcinoma 56 32 occasional (7.5%) Occasional (29-5%) HP:0002860
11 ectropion 56 32 occasional (7.5%) Occasional (29-5%) HP:0000656
12 laryngeal stenosis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001602
13 erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0010783
14 colitis 56 32 frequent (33%) Frequent (79-30%) HP:0002583
15 corneal opacity 56 32 occasional (7.5%) Occasional (29-5%) HP:0007957
16 turricephaly 56 32 occasional (7.5%) Occasional (29-5%) HP:0000262
17 poikiloderma 56 32 hallmark (90%) Very frequent (99-80%) HP:0001029
18 periodontitis 56 32 frequent (33%) Frequent (79-30%) HP:0000704
19 carious teeth 56 32 frequent (33%) Frequent (79-30%) HP:0000670
20 esophagitis 56 32 frequent (33%) Frequent (79-30%) HP:0100633
21 premature loss of primary teeth 56 32 frequent (33%) Frequent (79-30%) HP:0006323
22 short 5th metacarpal 56 32 occasional (7.5%) Occasional (29-5%) HP:0010047
23 phimosis 56 32 frequent (33%) Frequent (79-30%) HP:0001741
24 cutaneous photosensitivity 56 32 hallmark (90%) Very frequent (99-80%) HP:0000992
25 urethral stricture 56 32 occasional (7.5%) Occasional (29-5%) HP:0012227
26 esophageal stricture 56 32 frequent (33%) Frequent (79-30%) HP:0002043
27 abnormal blistering of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008066
28 atypical scarring of skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000987
29 aplasia/hypoplasia of the skin 56 32 hallmark (90%) Very frequent (99-80%) HP:0008065
30 abnormality of dental enamel 56 32 frequent (33%) Frequent (79-30%) HP:0000682
31 abnormality of the ribs 56 32 occasional (7.5%) Occasional (29-5%) HP:0000772
32 cheilitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0100825
33 abnormality of skin pigmentation 56 32 frequent (33%) Frequent (79-30%) HP:0001000
34 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
35 abnormality of the toenails 56 32 frequent (33%) Frequent (79-30%) HP:0008388
36 abnormality of the anus 56 32 occasional (7.5%) Occasional (29-5%) HP:0004378
37 neoplasm of the urethra 56 32 occasional (7.5%) Occasional (29-5%) HP:0100517
38 hyperkeratosis 56 Occasional (29-5%)
39 fragile skin 32 HP:0001030
40 palmoplantar hyperkeratosis 32 HP:0000972
41 spotty hypopigmentation 32 HP:0005590
42 spotty hyperpigmentation 32 HP:0005585
43 telangiectases in sun-exposed and nonexposed skin 32 HP:0007561
44 flexion contracture 56 Occasional (29-5%)
45 corneal erosion 32 HP:0200020
46 inflammation of the large intestine 56 Occasional (29-5%)
47 abnormality of the skull 56 Occasional (29-5%)
48 ridged nail 32 HP:0001807
49 amniotic constriction ring 32 HP:0009775
50 dermal atrophy 32 HP:0004334

UMLS symptoms related to Kindler Syndrome:


grooving of nail

MGI Mouse Phenotypes related to Kindler Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 COL7A1 FERMT1 FERMT3 ITGB4

Drugs & Therapeutics for Kindler Syndrome

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Registry Study on Patient Characteristics, Biological Disease Profile and Clinical Outcome in Acute Myeloid Leukemia and Related Neoplasms, and Higher Risk Myelodysplastic Syndrome - The Biology and Outcome (BiO)-Project Recruiting NCT01252485

Search NIH Clinical Center for Kindler Syndrome

Cochrane evidence based reviews: poikiloderma of kindler

Genetic Tests for Kindler Syndrome

Genetic tests related to Kindler Syndrome:

id Genetic test Affiliating Genes
1 Kindler's Syndrome 29
2 Kindler Syndrome 24 FERMT1

Anatomical Context for Kindler Syndrome

MalaCards organs/tissues related to Kindler Syndrome:

39
Skin, Eye, Myeloid, Breast

Publications for Kindler Syndrome

Articles related to Kindler Syndrome:

(show top 50) (show all 107)
id Title Authors Year
1
Dysphagia Due to Kindler Syndrome. ( 28745323 )
2017
2
Kindler syndrome complicated by invasive squamous cell carcinoma of the palate. ( 28641957 )
2017
3
Erosive pustular dermatosis of the scalp and Kindler syndrome: a new association. ( 28869804 )
2017
4
Two novel mutations in KIND1 in Indian patients with Kindler syndrome. ( 27862150 )
2017
5
Oral manifestations in Kindler syndrome: Case report and discussion of literature findings. ( 26815761 )
2016
6
UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome. ( 27798104 )
2016
7
A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome. ( 27293055 )
2016
8
Kindler syndrome: a case of two Iranian sisters. ( 27391311 )
2016
9
A Kindler syndrome-associated squamous cell carcinoma treated with radiotherapy. ( 27660560 )
2016
10
Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome. ( 27489438 )
2016
11
Acral skin atrophy in an infant: an early clue to Kindler syndrome diagnosis. ( 25764106 )
2015
12
A case of Kindler syndrome with severe esophageal stenosis. ( 25556422 )
2015
13
A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. ( 26537214 )
2015
14
Is adermatoglyphia an additional feature of Kindler Syndrome? ( 26375235 )
2015
15
The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families. ( 25599393 )
2015
16
A novel mutation in the FERMT1 gene in Turkish siblings with Kindler syndrome. ( 25865288 )
2015
17
A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases. ( 26083552 )
2015
18
Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm. ( 25591451 )
2015
19
Kindler syndrome with palmoplantar hyperhidrosis and blonde hair. ( 26500863 )
2015
20
Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree. ( 25515598 )
2015
21
Nailfold capillaroscopic changes in Kindler syndrome. ( 26668784 )
2015
22
FERMT1 promoter mutations in patients with Kindler syndrome. ( 25156791 )
2014
23
Oxidative stress and mitochondrial dysfunction in Kindler syndrome. ( 25528446 )
2014
24
Kindler syndrome in mice and men. ( 24919121 )
2014
25
Kindler syndrome: a close mimic of dyskeratosis congenita and the need to distinguish the two clinical entities. ( 24715947 )
2014
26
New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome. ( 24635080 )
2014
27
Kindler syndrome with severe mucosal involvement in childhood. ( 24635075 )
2014
28
Induction of senescence pathways in Kindler syndrome primary keratinocytes. ( 23278235 )
2013
29
The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome. ( 24005051 )
2013
30
Kindler Syndrome with Severe Intestinal Involvement: A 31-year Follow-up. ( 24002169 )
2013
31
Corneal erosion and Kindler syndrome. ( 23241824 )
2013
32
Sporadic Kindler Syndrome with a novel mutation. ( 24346923 )
2013
33
Case of Kindler syndrome resulting from mutation in the FERMT1 gene. ( 22672060 )
2012
34
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan. ( 22220914 )
2012
35
Cutaneous and laryngeal squamous cell carcinoma in mixed epidermolysis bullosa, kindler syndrome. ( 22807896 )
2012
36
Synchronous bilateral breast cancer in a patient with kindler syndrome. ( 22054710 )
2012
37
Congenital bullous poikiloderma (Kindler syndrome) - new mutation. ( 23078512 )
2012
38
Kindler syndrome: report of two cases. ( 23044576 )
2012
39
Revertant mosaicism in Kindler syndrome. ( 22089829 )
2012
40
Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome. ( 21146372 )
2011
41
Novel and recurrent FERMT1 gene mutations in Kindler syndrome. ( 21336475 )
2011
42
What is Kindler syndrome? ( 21675491 )
2011
43
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. ( 21936020 )
2011
44
Picture of the month--quiz case. Kindler syndrome. ( 20819971 )
2010
45
Kindler syndrome. ( 19945624 )
2010
46
Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. ( 19945623 )
2010
47
Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer. ( 20938162 )
2010
48
Kindler syndrome causing severe cicatricial ectropion. ( 20592640 )
2010
49
Invasive squamous cell carcinoma of the hand in a patient with Kindler syndrome: Case report and literature review. ( 21886433 )
2010
50
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. ( 19762710 )
2009

Variations for Kindler Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Kindler Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 FERMT1 p.Ser400Pro VAR_066943 rs869312718
2 FERMT1 p.Trp559Arg VAR_066944 rs869312719

ClinVar genetic disease variations for Kindler Syndrome:

6 (show all 29)
id Gene Variation Type Significance SNP ID Assembly Location
1 FERMT1 FERMT1, IVS3DS, T-C, +2 single nucleotide variant Pathogenic
2 FERMT1 NM_017671.4(FERMT1): c.787C> T (p.Gln263Ter) single nucleotide variant Pathogenic rs121918292 GRCh37 Chromosome 20, 6088241: 6088241
3 FERMT1 FERMT1, 1-BP INS, 1714A insertion Pathogenic
4 FERMT1 FERMT1, 1-BP DEL, 464A deletion Pathogenic
5 FERMT1 NM_017671.4(FERMT1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs121918293 GRCh37 Chromosome 20, 6088217: 6088217
6 FERMT1 NM_017671.4(FERMT1): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121918294 GRCh37 Chromosome 20, 6078266: 6078266
7 FERMT1 NM_017671.4(FERMT1): c.1867_1869delATC (p.Ile623del) deletion Pathogenic rs869312721 GRCh38 Chromosome 20, 6077338: 6077340
8 FERMT1 NM_017671.4(FERMT1): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs869312731 GRCh37 Chromosome 20, 6060095: 6060095
9 FERMT1 NM_017671.4(FERMT1): c.1675T> C (p.Trp559Arg) single nucleotide variant Pathogenic rs869312719 GRCh38 Chromosome 20, 6084083: 6084083
10 FERMT1 NM_017671.4(FERMT1): c.1383C> A (p.Tyr461Ter) single nucleotide variant Pathogenic rs142328166 GRCh37 Chromosome 20, 6065923: 6065923
11 FERMT1 NM_017671.4(FERMT1): c.1198T> C (p.Ser400Pro) single nucleotide variant Pathogenic rs869312718 GRCh38 Chromosome 20, 6089031: 6089031
12 FERMT1 NM_017671.4(FERMT1): c.1176T> G (p.Tyr392Ter) single nucleotide variant Pathogenic rs869312730 GRCh38 Chromosome 20, 6089053: 6089053
13 FERMT1 NM_017671.4(FERMT1): c.1161delA (p.Ala388Leufs) deletion Pathogenic rs869312729 GRCh37 Chromosome 20, 6069715: 6069715
14 FERMT1 NM_017671.4(FERMT1): c.1139+740G> A single nucleotide variant Pathogenic rs869312728 GRCh38 Chromosome 20, 6094199: 6094199
15 FERMT1 NM_017671.4(FERMT1): c.1139+2T> C single nucleotide variant Pathogenic rs869312727 GRCh38 Chromosome 20, 6094937: 6094937
16 FERMT1 NM_017671.4(FERMT1): c.994_995delCA (p.Gln332Glyfs) deletion Pathogenic rs866141540 GRCh38 Chromosome 20, 6096996: 6096997
17 FERMT1 NM_017671.4(FERMT1): c.958-1G> A single nucleotide variant Pathogenic rs869312726 GRCh38 Chromosome 20, 6097034: 6097034
18 FERMT1 NM_017671.4(FERMT1): c.957+1G> A single nucleotide variant Pathogenic rs869312725 GRCh38 Chromosome 20, 6097523: 6097523
19 FERMT1 NM_017671.4(FERMT1): c.910G> T (p.Glu304Ter) single nucleotide variant Pathogenic rs146180696 GRCh38 Chromosome 20, 6097571: 6097571
20 FERMT1 NM_017671.4(FERMT1): c.889A> G (p.Arg297Gly) single nucleotide variant Pathogenic rs779612399 GRCh37 Chromosome 20, 6078239: 6078239
21 FERMT1 NM_017671.4(FERMT1): c.550_551insA (p.Ser184Lysfs) duplication Pathogenic rs869312724 GRCh37 Chromosome 20, 6091141: 6091141
22 FERMT1 NM_017671.4(FERMT1): c.373delT (p.Cys125Alafs) deletion Pathogenic rs869312723 GRCh37 Chromosome 20, 6096470: 6096470
23 FERMT1 NM_017671.4(FERMT1): c.299_301delGTC (p.Arg100del) deletion Pathogenic rs869312720 GRCh38 Chromosome 20, 6115895: 6115897
24 FERMT1 NM_017671.4(FERMT1): c.-20A> G single nucleotide variant Pathogenic rs869312722 GRCh37 Chromosome 20, 6103422: 6103422
25 FERMT1 NM_017671.4: c.676insC insertion Pathogenic
26 FERMT1 g.-711-1241del undetermined variant Pathogenic
27 FERMT1 g.6109589_6112605del undetermined variant Pathogenic
28 FERMT1 g.6116239_6120157del undetermined variant Pathogenic
29 FERMT1 g.6109607_6112272del undetermined variant Pathogenic

Copy number variations for Kindler Syndrome from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 156039 20 6003491 6052191 Loss FERMT1 Kindler syndrome
2 156091 20 6023977 6036281 Deletion KIND1 Kindler syndrome

Expression for Kindler Syndrome

Search GEO for disease gene expression data for Kindler Syndrome.

Pathways for Kindler Syndrome

GO Terms for Kindler Syndrome

Cellular components related to Kindler Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.62 DST FBLIM1 FERMT1 RDX
2 focal adhesion GO:0005925 9.46 DST FBLIM1 FERMT1 RDX
3 basement membrane GO:0005604 9.37 COL7A1 DST
4 cell leading edge GO:0031252 9.26 DST ITGB4
5 cell junction GO:0030054 9.02 DST FBLIM1 FERMT1 FERMT3 ITGB4
6 hemidesmosome GO:0030056 8.96 DST ITGB4

Biological processes related to Kindler Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 response to wounding GO:0009611 9.26 DST ITGB4
2 cell motility GO:0048870 9.16 DST ITGB4
3 integrin-mediated signaling pathway GO:0007229 9.13 DST FERMT3 ITGB4
4 cell adhesion GO:0007155 9.1 COL7A1 DST FBLIM1 FERMT1 FERMT3 ITGB4

Molecular functions related to Kindler Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 integrin binding GO:0005178 8.96 DST FERMT3
2 cytoskeletal protein binding GO:0008092 8.62 DST RDX

Sources for Kindler Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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