KNDLRS
MCID: KND001
MIFTS: 51

Kindler Syndrome (KNDLRS)

Categories: Gastrointestinal diseases, Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kindler Syndrome

MalaCards integrated aliases for Kindler Syndrome:

Name: Kindler Syndrome 58 12 25 54 26 60 76 38 13 56 15
Poikiloderma of Kindler 12 77 54 26 60 45 74
Congenital Bullous Poikiloderma 25 54 26 60
Kindler's Syndrome 26 30 6 41
Bullous Acrokeratotic Poikiloderma of Kindler and Weary 58 54 76
Poikiloderma, Congenital, with Bullae, Weary Type 58 54
Poikiloderma Congenital with Bullae Weary Type 77 76
Poikiloderma, Hereditary Acrokeratotic 58 54
Kndlrs 58 76
Hereditary Acrokeratotic Poikiloderma of Kindler-Weary 12
Hereditary Acrokeratotic Poikiloderma 60
Poikiloderma Hereditary Acrokeratotic 76
Potassium Deficiency 74
Weary Syndrome 60

Characteristics:

Orphanet epidemiological data:

60
kindler syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

58
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:

33
kindler syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 60  
Rare skin diseases


Summaries for Kindler Syndrome

NIH Rare Diseases : 54 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).

MalaCards based summary : Kindler Syndrome, also known as poikiloderma of kindler, is related to epidermolysis bullosa and skin atrophy, and has symptoms including grooving of nail 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 bone, and related phenotypes are ichthyosis and palmoplantar keratoderma

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

Genetics Home Reference : 26 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 : 58 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 : 76 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 : 77 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 all 36)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 31.7 ITGB4 DST COL7A1
2 skin atrophy 30.1 FERMT1 FBLIM1
3 junctional epidermolysis bullosa 29.6 ITGB4 DST
4 epidermolysis bullosa simplex 29.5 ITGB4 DST
5 squamous cell carcinoma 10.3
6 periodontitis 10.2
7 leukocyte adhesion deficiency, type i 10.1 FERMT3 FERMT1
8 aggressive periodontitis 10.1
9 periodontal disease 10.1
10 skin carcinoma 10.1
11 lichen planus pemphigoides 9.9 ITGB4 DST
12 linear iga disease 9.9 ITGB4 DST
13 neurotic excoriation 9.9 DST COL7A1
14 breast cancer 9.9
15 adermatoglyphia 9.9
16 cholangitis, primary sclerosing 9.9
17 colitis 9.9
18 cicatricial ectropion 9.9
19 sclerosing cholangitis 9.9
20 ectropion 9.9
21 dyskeratosis congenita 9.9
22 laryngeal squamous cell carcinoma 9.9
23 bilateral breast cancer 9.9
24 cholangitis 9.9
25 erosive pustular dermatosis of the scalp 9.9
26 dysphagia 9.9
27 lipoid proteinosis of urbach and wiethe 9.9 FERMT1 DST
28 aplasia cutis congenita 9.9 ITGB4 COL7A1
29 epidermolysis bullosa dystrophica 9.9 DST COL7A1
30 cicatricial pemphigoid 9.9 ITGB4 DST
31 epidermolysis bullosa junctionalis with pyloric atresia 9.9 ITGB4 DST
32 vesiculobullous skin disease 9.7 ITGB4 DST COL7A1
33 skin disease 9.7 ITGB4 DST COL7A1
34 epidermolysis bullosa acquisita 9.7 ITGB4 DST COL7A1
35 epidermolysis bullosa, junctional, non-herlitz type 9.7 ITGB4 DST COL7A1
36 bullous pemphigoid 9.6 DST ITGB4

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



Diseases related to Kindler Syndrome

Symptoms & Phenotypes for Kindler Syndrome

Human phenotypes related to Kindler Syndrome:

60 33 (show top 50) (show all 88)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0008064
2 palmoplantar keratoderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0000982
3 abnormal blistering of the skin 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008066
4 thin skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0000963
5 hypopigmented skin patches 60 33 hallmark (90%) Very frequent (99-80%) HP:0001053
6 telangiectasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0100585
7 aplasia/hypoplasia of the skin 60 33 hallmark (90%) Very frequent (99-80%) HP:0008065
8 irregular hyperpigmentation 60 33 hallmark (90%) Very frequent (99-80%) HP:0007400
9 gingivitis 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000230
10 cheilitis 60 33 hallmark (90%) Very frequent (99-80%) HP:0100825
11 erythema 60 33 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010783
12 eczema 60 33 hallmark (90%) Very frequent (99-80%) HP:0000964
13 urticaria 60 33 hallmark (90%) Very frequent (99-80%) HP:0001025
14 cutaneous photosensitivity 60 33 hallmark (90%) Very frequent (99-80%) HP:0000992
15 papule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200034
16 dystrophic toenail 60 33 hallmark (90%) Very frequent (99-80%) HP:0001810
17 dystrophic fingernails 60 33 hallmark (90%) Very frequent (99-80%) HP:0008391
18 pustule 60 33 hallmark (90%) Very frequent (99-80%) HP:0200039
19 poikiloderma 60 33 hallmark (90%) Very frequent (99-80%) HP:0001029
20 premature loss of primary teeth 60 33 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0006323
21 finger syndactyly 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0006101
22 dysphagia 60 33 frequent (33%) Frequent (79-30%) HP:0002015
23 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
24 skin ulcer 60 33 frequent (33%) Frequent (79-30%) HP:0200042
25 xerostomia 60 33 frequent (33%) Frequent (79-30%) HP:0000217
26 narrow mouth 60 33 frequent (33%) Frequent (79-30%) HP:0000160
27 abnormality of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0000682
28 turricephaly 60 33 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000262
29 periodontitis 60 33 frequent (33%) Frequent (79-30%) HP:0000704
30 esophagitis 60 33 frequent (33%) Frequent (79-30%) HP:0100633
31 gingival bleeding 60 33 frequent (33%) Frequent (79-30%) HP:0000225
32 abnormality of skin pigmentation 60 33 frequent (33%) Frequent (79-30%) HP:0001000
33 camptodactyly of finger 60 33 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0100490
34 abnormal pigmentation of the oral mucosa 60 33 frequent (33%) Frequent (79-30%) HP:0100669
35 abnormal toenail morphology 60 33 frequent (33%) Frequent (79-30%) HP:0008388
36 recurrent skin infections 60 33 frequent (33%) Frequent (79-30%) HP:0001581
37 oral leukoplakia 60 33 frequent (33%) Frequent (79-30%) HP:0002745
38 abnormality of the preputium 60 33 frequent (33%) Frequent (79-30%) HP:0100587
39 palmoplantar hyperkeratosis 60 33 frequent (33%) Frequent (79-30%) HP:0000972
40 ankyloglossia 60 33 frequent (33%) Frequent (79-30%) HP:0010296
41 phimosis 60 33 frequent (33%) Frequent (79-30%) HP:0001741
42 esophageal stricture 60 33 frequent (33%) Frequent (79-30%) HP:0002043
43 colitis 60 33 frequent (33%) Frequent (79-30%) HP:0002583
44 hearing impairment 60 33 occasional (7.5%) Occasional (29-5%) HP:0000365
45 corneal opacity 60 33 occasional (7.5%) Occasional (29-5%) HP:0007957
46 open bite 60 33 occasional (7.5%) Occasional (29-5%) HP:0010807
47 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
48 anemia 60 33 occasional (7.5%) Occasional (29-5%) HP:0001903
49 opacification of the corneal stroma 60 33 occasional (7.5%) Occasional (29-5%) HP:0007759
50 joint hyperflexibility 60 33 occasional (7.5%) Occasional (29-5%) HP:0005692

Symptoms via clinical synopsis from OMIM:

58
Genitourinary External Genitalia Male:
phimosis

Head And Neck Teeth:
dental caries
periodontal disease

Skeletal Hands:
digital webbing

Skin Nails Hair Skin:
hyperkeratosis of palms and soles
skin fragility
neonatal acral blistering
sun sensitivity
diffuse skin atrophy (especially dorsa of hands and feet)
more
Skin Nails Hair Nails:
nail ridging
nail grooving

Skeletal Feet:
pseudoainhum of toes

Clinical features from OMIM:

173650

UMLS symptoms related to Kindler Syndrome:


grooving of nail

MGI Mouse Phenotypes related to Kindler Syndrome:

47
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 8.92 COL7A1 FERMT1 FERMT3 ITGB4

Drugs & Therapeutics for Kindler Syndrome

Search Clinical Trials , NIH Clinical Center for Kindler Syndrome

Cochrane evidence based reviews: poikiloderma of kindler

Genetic Tests for Kindler Syndrome

Genetic tests related to Kindler Syndrome:

# Genetic test Affiliating Genes
1 Kindler's Syndrome 30 FERMT1

Anatomical Context for Kindler Syndrome

MalaCards organs/tissues related to Kindler Syndrome:

42
Skin, Eye, Bone, Breast

Publications for Kindler Syndrome

Articles related to Kindler Syndrome:

(show top 50) (show all 116)
# Title Authors Year
1
Kindler syndrome: a rare case report from Greece. ( 30838128 )
2019
2
Kindler Syndrome. ( 29396956 )
2018
3
Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association? ( 29634879 )
2018
4
Natural history of Kindler syndrome and propensity for skin cancer - case report and literature review. ( 29384271 )
2018
5
A case of Kindler syndrome in a young Indian female with exon deletion. ( 30414177 )
2018
6
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. ( 29138120 )
2017
7
Erosive pustular dermatosis of the scalp and Kindler syndrome: a new association. ( 28869804 )
2017
8
Dysphagia Due to Kindler Syndrome. ( 28745323 )
2017
9
Kindler syndrome complicated by invasive squamous cell carcinoma of the palate. ( 28641957 )
2017
10
Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree. ( 29168364 )
2017
11
Two novel mutations in KIND1 in Indian patients with Kindler syndrome. ( 27862150 )
2017
12
Kindler syndrome: a case of two Iranian sisters. ( 27391311 )
2016
13
UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome. ( 27798104 )
2016
14
Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome. ( 27489438 )
2016
15
A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome. ( 27293055 )
2016
16
A Kindler syndrome-associated squamous cell carcinoma treated with radiotherapy. ( 27660560 )
2016
17
Oral manifestations in Kindler syndrome: Case report and discussion of literature findings. ( 26815761 )
2016
18
A novel mutation in the FERMT1 gene in Turkish siblings with Kindler syndrome. ( 25865288 )
2015
19
Acral skin atrophy in an infant: an early clue to Kindler syndrome diagnosis. ( 25764106 )
2015
20
Is adermatoglyphia an additional feature of Kindler Syndrome? ( 26375235 )
2015
21
A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases. ( 26083552 )
2015
22
A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. ( 26537214 )
2015
23
Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree. ( 25515598 )
2015
24
The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families. ( 25599393 )
2015
25
Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm. ( 25591451 )
2015
26
Kindler syndrome with palmoplantar hyperhidrosis and blonde hair. ( 26500863 )
2015
27
Nailfold capillaroscopic changes in Kindler syndrome. ( 26668784 )
2015
28
A case of Kindler syndrome with severe esophageal stenosis. ( 25556422 )
2015
29
Oxidative stress and mitochondrial dysfunction in Kindler syndrome. ( 25528446 )
2014
30
FERMT1 promoter mutations in patients with Kindler syndrome. ( 25156791 )
2014
31
Kindler syndrome in mice and men. ( 24919121 )
2014
32
Kindler syndrome: a close mimic of dyskeratosis congenita and the need to distinguish the two clinical entities. ( 24715947 )
2014
33
New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome. ( 24635080 )
2014
34
Kindler syndrome with severe mucosal involvement in childhood. ( 24635075 )
2014
35
Induction of senescence pathways in Kindler syndrome primary keratinocytes. ( 23278235 )
2013
36
Sporadic Kindler Syndrome with a novel mutation. ( 24346923 )
2013
37
The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome. ( 24005051 )
2013
38
Kindler Syndrome with Severe Intestinal Involvement: A 31-year Follow-up. ( 24002169 )
2013
39
Corneal erosion and Kindler syndrome. ( 23241824 )
2013
40
Cutaneous and laryngeal squamous cell carcinoma in mixed epidermolysis bullosa, kindler syndrome. ( 22807896 )
2012
41
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan. ( 22220914 )
2012
42
Revertant mosaicism in Kindler syndrome. ( 22089829 )
2012
43
Congenital bullous poikiloderma (Kindler syndrome) - new mutation. ( 23078512 )
2012
44
Kindler syndrome: report of two cases. ( 23044576 )
2012
45
Synchronous bilateral breast cancer in a patient with kindler syndrome. ( 22054710 )
2012
46
Case of Kindler syndrome resulting from mutation in the FERMT1 gene. ( 22672060 )
2012
47
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. ( 21936020 )
2011
48
Novel and recurrent FERMT1 gene mutations in Kindler syndrome. ( 21336475 )
2011
49
What is Kindler syndrome? ( 21675491 )
2011
50
Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome. ( 21146372 )
2011

Variations for Kindler Syndrome

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

76
# 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 top 50) (show all 263)
# 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 NM_017671.4(FERMT1): c.787C> T (p.Gln263Ter) single nucleotide variant Pathogenic rs121918292 GRCh38 Chromosome 20, 6107594: 6107594
4 FERMT1 NM_017671.4(FERMT1): c.1714_1715insA (p.Val572Aspfs) insertion Pathogenic GRCh37 Chromosome 20, 6064690: 6064691
5 FERMT1 NM_017671.4(FERMT1): c.1714_1715insA (p.Val572Aspfs) insertion Pathogenic GRCh38 Chromosome 20, 6084043: 6084044
6 FERMT1 NM_017671.4(FERMT1): c.464delA (p.Asn155Ilefs) deletion Pathogenic GRCh37 Chromosome 20, 6093192: 6093192
7 FERMT1 NM_017671.4(FERMT1): c.464delA (p.Asn155Ilefs) deletion Pathogenic GRCh38 Chromosome 20, 6112545: 6112545
8 FERMT1 NM_017671.4(FERMT1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs121918293 GRCh37 Chromosome 20, 6088217: 6088217
9 FERMT1 NM_017671.4(FERMT1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs121918293 GRCh38 Chromosome 20, 6107570: 6107570
10 FERMT1 NM_017671.4(FERMT1): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121918294 GRCh37 Chromosome 20, 6078266: 6078266
11 FERMT1 NM_017671.4(FERMT1): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121918294 GRCh38 Chromosome 20, 6097619: 6097619
12 FERMT1 NM_017671.4(FERMT1): c.1867_1869del (p.Ile623del) deletion Pathogenic rs869312721 GRCh38 Chromosome 20, 6077338: 6077340
13 FERMT1 NM_017671.4(FERMT1): c.1867_1869del (p.Ile623del) deletion Pathogenic rs869312721 GRCh37 Chromosome 20, 6057985: 6057987
14 FERMT1 NM_017671.4(FERMT1): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs869312731 GRCh37 Chromosome 20, 6060095: 6060095
15 FERMT1 NM_017671.4(FERMT1): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs869312731 GRCh38 Chromosome 20, 6079448: 6079448
16 FERMT1 NM_017671.4(FERMT1): c.1675T> C (p.Trp559Arg) single nucleotide variant Pathogenic rs869312719 GRCh38 Chromosome 20, 6084083: 6084083
17 FERMT1 NM_017671.4(FERMT1): c.1675T> C (p.Trp559Arg) single nucleotide variant Pathogenic rs869312719 GRCh37 Chromosome 20, 6064730: 6064730
18 FERMT1 NM_017671.4(FERMT1): c.1383C> A (p.Tyr461Ter) single nucleotide variant Pathogenic rs142328166 GRCh37 Chromosome 20, 6065923: 6065923
19 FERMT1 NM_017671.4(FERMT1): c.1383C> A (p.Tyr461Ter) single nucleotide variant Pathogenic rs142328166 GRCh38 Chromosome 20, 6085276: 6085276
20 FERMT1 NM_017671.4(FERMT1): c.1198T> C (p.Ser400Pro) single nucleotide variant Pathogenic rs869312718 GRCh38 Chromosome 20, 6089031: 6089031
21 FERMT1 NM_017671.4(FERMT1): c.1198T> C (p.Ser400Pro) single nucleotide variant Pathogenic rs869312718 GRCh37 Chromosome 20, 6069678: 6069678
22 FERMT1 NM_017671.4(FERMT1): c.1176T> G (p.Tyr392Ter) single nucleotide variant Pathogenic rs869312730 GRCh38 Chromosome 20, 6089053: 6089053
23 FERMT1 NM_017671.4(FERMT1): c.1176T> G (p.Tyr392Ter) single nucleotide variant Pathogenic rs869312730 GRCh37 Chromosome 20, 6069700: 6069700
24 FERMT1 NM_017671.4(FERMT1): c.1161delA (p.Ala388Leufs) deletion Pathogenic rs869312729 GRCh37 Chromosome 20, 6069715: 6069715
25 FERMT1 NM_017671.4(FERMT1): c.1161delA (p.Ala388Leufs) deletion Pathogenic rs869312729 GRCh38 Chromosome 20, 6089068: 6089068
26 FERMT1 NM_017671.4(FERMT1): c.1139+740G> A single nucleotide variant Pathogenic rs869312728 GRCh38 Chromosome 20, 6094199: 6094199
27 FERMT1 NM_017671.4(FERMT1): c.1139+740G> A single nucleotide variant Pathogenic rs869312728 GRCh37 Chromosome 20, 6074846: 6074846
28 FERMT1 NM_017671.4(FERMT1): c.1139+2T> C single nucleotide variant Pathogenic rs869312727 GRCh38 Chromosome 20, 6094937: 6094937
29 FERMT1 NM_017671.4(FERMT1): c.1139+2T> C single nucleotide variant Pathogenic rs869312727 GRCh37 Chromosome 20, 6075584: 6075584
30 FERMT1 NM_017671.4(FERMT1): c.994_995delCA (p.Gln332Glyfs) deletion Pathogenic rs866141540 GRCh38 Chromosome 20, 6096996: 6096997
31 FERMT1 NM_017671.4(FERMT1): c.994_995delCA (p.Gln332Glyfs) deletion Pathogenic rs866141540 GRCh37 Chromosome 20, 6077643: 6077644
32 FERMT1 NM_017671.4(FERMT1): c.958-1G> A single nucleotide variant Pathogenic rs869312726 GRCh38 Chromosome 20, 6097034: 6097034
33 FERMT1 NM_017671.4(FERMT1): c.958-1G> A single nucleotide variant Pathogenic rs869312726 GRCh37 Chromosome 20, 6077681: 6077681
34 FERMT1 NM_017671.4(FERMT1): c.957+1G> A single nucleotide variant Pathogenic rs869312725 GRCh38 Chromosome 20, 6097523: 6097523
35 FERMT1 NM_017671.4(FERMT1): c.957+1G> A single nucleotide variant Pathogenic rs869312725 GRCh37 Chromosome 20, 6078170: 6078170
36 FERMT1 NM_017671.4(FERMT1): c.910G> T (p.Glu304Ter) single nucleotide variant Pathogenic rs146180696 GRCh38 Chromosome 20, 6097571: 6097571
37 FERMT1 NM_017671.4(FERMT1): c.910G> T (p.Glu304Ter) single nucleotide variant Pathogenic rs146180696 GRCh37 Chromosome 20, 6078218: 6078218
38 FERMT1 NM_017671.4(FERMT1): c.889A> G (p.Arg297Gly) single nucleotide variant Pathogenic rs779612399 GRCh37 Chromosome 20, 6078239: 6078239
39 FERMT1 NM_017671.4(FERMT1): c.889A> G (p.Arg297Gly) single nucleotide variant Pathogenic rs779612399 GRCh38 Chromosome 20, 6097592: 6097592
40 FERMT1 NM_017671.4(FERMT1): c.550_551insA (p.Ser184Lysfs) duplication Pathogenic rs869312724 GRCh37 Chromosome 20, 6091141: 6091141
41 FERMT1 NM_017671.4(FERMT1): c.550_551insA (p.Ser184Lysfs) duplication Pathogenic rs869312724 GRCh38 Chromosome 20, 6110494: 6110494
42 FERMT1 NM_017671.4(FERMT1): c.373delT (p.Cys125Alafs) deletion Pathogenic rs869312723 GRCh37 Chromosome 20, 6096470: 6096470
43 FERMT1 NM_017671.4(FERMT1): c.373delT (p.Cys125Alafs) deletion Pathogenic rs869312723 GRCh38 Chromosome 20, 6115823: 6115823
44 FERMT1 NM_017671.4(FERMT1): c.299_301del (p.Arg100del) deletion Pathogenic rs869312720 GRCh38 Chromosome 20, 6115895: 6115897
45 FERMT1 NM_017671.4(FERMT1): c.299_301del (p.Arg100del) deletion Pathogenic rs869312720 GRCh37 Chromosome 20, 6096542: 6096544
46 FERMT1 NM_017671.4(FERMT1): c.-20A> G single nucleotide variant Pathogenic rs869312722 GRCh37 Chromosome 20, 6103422: 6103422
47 FERMT1 NM_017671.4(FERMT1): c.-20A> G single nucleotide variant Pathogenic rs869312722 GRCh38 Chromosome 20, 6122775: 6122775
48 FERMT1 NM_017671.4: c.676insC insertion Pathogenic
49 FERMT1 NM_017671.4(FERMT1): c.-1501_-19+470del deletion Pathogenic GRCh38 Chromosome 20, 6122304: 6124256
50 FERMT1 NM_017671.4(FERMT1): c.-1501_-19+470del deletion Pathogenic GRCh37 Chromosome 20, 6102951: 6104903

Copy number variations for Kindler Syndrome from CNVD:

7
# 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

Pathways related to Kindler Syndrome according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 COL7A1 DST ITGB4
2
Show member pathways
11.99 COL7A1 DST ITGB4
3
Show member pathways
11.75 DST FBLIM1 ITGB4
4
Show member pathways
11.65 COL7A1 ITGB4 RDX
5 10.89 FERMT1 FERMT3 ITGB4
6 10.4 COL7A1 ITGB4 RDX

GO Terms for Kindler Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.67 DST FBLIM1 FERMT1 RDX
2 cell projection GO:0042995 9.56 DST FERMT1 FERMT3 RDX
3 basement membrane GO:0005604 9.4 COL7A1 DST
4 cell junction GO:0030054 9.35 DST FBLIM1 FERMT1 FERMT3 ITGB4
5 cell leading edge GO:0031252 9.32 DST ITGB4
6 hemidesmosome GO:0030056 9.16 DST ITGB4
7 focal adhesion GO:0005925 9.02 DST FBLIM1 FERMT1 ITGB4 RDX

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

# Name GO ID Score Top Affiliating Genes
1 response to wounding GO:0009611 9.32 DST ITGB4
2 cell motility GO:0048870 9.26 DST ITGB4
3 integrin-mediated signaling pathway GO:0007229 9.26 DST FERMT1 FERMT3 ITGB4
4 hemidesmosome assembly GO:0031581 9.16 DST ITGB4
5 cell adhesion GO:0007155 9.1 COL7A1 DST FBLIM1 FERMT1 FERMT3 ITGB4

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 8.96 DST RDX
2 integrin binding GO:0005178 8.8 DST FERMT3 ITGB4

Sources for Kindler Syndrome

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
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47 MGI
50 NCI
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52 NDF-RT
55 NINDS
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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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