MCID: KND001
MIFTS: 50

Kindler Syndrome

Categories: Genetic diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kindler Syndrome

MalaCards integrated aliases for Kindler Syndrome:

Name: Kindler Syndrome 57 12 24 53 25 59 75 37 13 55 15
Poikiloderma of Kindler 12 76 53 25 59 44 73
Kindler's Syndrome 25 29 6 40
Bullous Acrokeratotic Poikiloderma of Kindler and Weary 57 53 75
Congenital Bullous Poikiloderma 24 53 25
Hereditary Acrokeratotic Poikiloderma of Kindler-Weary 12 59
Poikiloderma, Congenital, with Bullae, Weary Type 57 53
Poikiloderma Congenital with Bullae Weary Type 76 75
Poikiloderma, Hereditary Acrokeratotic 57 53
Kndlrs 57 75
Poikiloderma Hereditary Acrokeratotic 75
Potassium Deficiency 73
K Deficiency 55
Ks 59

Characteristics:

Orphanet epidemiological data:

59
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:

57
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: 59  
Rare skin diseases


Summaries for Kindler Syndrome

NIH Rare Diseases : 53 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 and eye, and related phenotypes are finger syndactyly and dysphagia

OMIM : 57 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 : 75 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.

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.

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

Wikipedia : 76 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 113)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 30.9 COL7A1 DST ITGB4
2 skin atrophy 30.0 FBLIM1 FERMT1
3 junctional epidermolysis bullosa 29.0 DST ITGB4
4 epidermolysis bullosa simplex 28.8 DST ITGB4
5 vitamin k deficiency hemorrhagic disease 12.4
6 kaposi sarcoma 11.6
7 hypogonadotropic hypogonadism 11.5
8 kleefstra syndrome 11.5
9 kallmann syndrome 11.4
10 maxillonasal dysplasia, binder type 11.2
11 diffuse cutaneous mastocytosis 11.2
12 47, xxy 11.1
13 factor vii deficiency 11.0
14 keutel syndrome 11.0
15 kniest dysplasia 11.0
16 hereditary acrokeratotic poikiloderma, weary type 10.9
17 factor x deficiency 10.9
18 congenital disorder of glycosylation, type iil 10.9
19 prothrombin deficiency 10.9
20 protein c deficiency 10.9
21 hypogonadotropic hypogonadism 7 with or without anosmia 10.9
22 hypogonadotropic hypogonadism 2 with or without anosmia 10.9
23 hypogonadotropic hypogonadism 3 with or without anosmia 10.9
24 hypogonadotropic hypogonadism 1 with or without anosmia 10.9
25 hypogonadotropic hypogonadism 4 with or without anosmia 10.9
26 hypogonadotropic hypogonadism 5 with or without anosmia 10.9
27 hypogonadotropic hypogonadism 6 with or without anosmia 10.9
28 hypogonadotropic hypogonadism 8 with or without anosmia 10.9
29 hypogonadotropic hypogonadism 9 with or without anosmia 10.9
30 hypogonadotropic hypogonadism 10 with or without anosmia 10.9
31 hypogonadotropic hypogonadism 11 with or without anosmia 10.9
32 hypogonadotropic hypogonadism 12 with or without anosmia 10.9
33 hypogonadotropic hypogonadism 13 with or without anosmia 10.9
34 hypogonadotropic hypogonadism 14 with or without anosmia 10.9
35 hypogonadotropic hypogonadism 15 with or without anosmia 10.9
36 hypogonadotropic hypogonadism 16 with or without anosmia 10.9
37 hypogonadotropic hypogonadism 17 with or without anosmia 10.9
38 hypogonadotropic hypogonadism 18 with or without anosmia 10.9
39 hypogonadotropic hypogonadism 19 with or without anosmia 10.9
40 hypogonadotropic hypogonadism 20 with or without anosmia 10.9
41 hypogonadotropic hypogonadism 21 with or without anosmia 10.9
42 hypogonadotropic hypogonadism 22 with or without anosmia 10.9
43 kallmann syndrome with spastic paraplegia 10.7
44 sarcoma 10.3
45 leukocyte adhesion deficiency, type i 10.2 FERMT1 FERMT3
46 squamous cell carcinoma 10.1
47 periodontitis 10.1
48 mucositis 10.0
49 lichen planus pemphigoides 9.9 DST ITGB4
50 linear iga disease 9.9 DST ITGB4

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:

57
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

Human phenotypes related to Kindler Syndrome:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
3 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
4 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
5 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
6 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
7 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008066
8 short 4th metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0010044
9 short 5th metacarpal 59 32 occasional (7.5%) Occasional (29-5%) HP:0010047
10 atypical scarring of skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000987
11 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
12 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
13 turricephaly 59 32 occasional (7.5%) Occasional (29-5%) HP:0000262
14 gingivitis 59 32 frequent (33%) Frequent (79-30%) HP:0000230
15 periodontitis 59 32 frequent (33%) Frequent (79-30%) HP:0000704
16 abnormality of the ribs 59 32 occasional (7.5%) Occasional (29-5%) HP:0000772
17 cheilitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100825
18 esophagitis 59 32 frequent (33%) Frequent (79-30%) HP:0100633
19 erythema 59 32 hallmark (90%) Very frequent (99-80%) HP:0010783
20 conjunctivitis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000509
21 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
22 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
23 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
24 ectropion 59 32 occasional (7.5%) Occasional (29-5%) HP:0000656
25 recurrent skin infections 59 32 frequent (33%) Frequent (79-30%) HP:0001581
26 squamous cell carcinoma 59 32 occasional (7.5%) Occasional (29-5%) HP:0002860
27 abnormality of the anus 59 32 occasional (7.5%) Occasional (29-5%) HP:0004378
28 laryngeal stenosis 59 32 occasional (7.5%) Occasional (29-5%) HP:0001602
29 poikiloderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001029
30 premature loss of primary teeth 59 32 frequent (33%) Frequent (79-30%) HP:0006323
31 milia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001056
32 urethral stricture 59 32 occasional (7.5%) Occasional (29-5%) HP:0012227
33 phimosis 59 32 frequent (33%) Frequent (79-30%) HP:0001741
34 esophageal stricture 59 32 frequent (33%) Frequent (79-30%) HP:0002043
35 colitis 59 32 frequent (33%) Frequent (79-30%) HP:0002583
36 neoplasm of the urethra 59 32 occasional (7.5%) Occasional (29-5%) HP:0100517
37 flexion contracture 59 Occasional (29-5%)
38 hyperkeratosis 59 Occasional (29-5%)
39 corneal erosion 32 HP:0200020
40 inflammation of the large intestine 59 Occasional (29-5%)
41 abnormality of the skull 59 Occasional (29-5%)
42 abnormality of the toenails 59 Frequent (79-30%)
43 ridged nail 32 HP:0001807
44 spotty hyperpigmentation 32 HP:0005585
45 amniotic constriction ring 32 HP:0009775
46 palmoplantar hyperkeratosis 32 HP:0000972
47 dermal atrophy 32 HP:0004334
48 diffuse skin atrophy 32 HP:0007488
49 spotty hypopigmentation 32 HP:0005590
50 fragile skin 32 HP:0001030

UMLS symptoms related to Kindler Syndrome:


grooving of nail

MGI Mouse Phenotypes related to Kindler Syndrome:

46
# 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 29 FERMT1

Anatomical Context for Kindler Syndrome

MalaCards organs/tissues related to Kindler Syndrome:

41
Skin, Eye

Publications for Kindler Syndrome

Articles related to Kindler Syndrome:

(show top 50) (show all 112)
# Title Authors Year
1
Kindler Syndrome. ( 29396956 )
2018
2
Kindler syndrome in a patient with colitis and primary sclerosing cholangitis: coincidence or association? ( 29634879 )
2018
3
Natural history of Kindler syndrome and propensity for skin cancer - case report and literature review. ( 29384271 )
2018
4
Recessive mutation in tetraspanin CD151 causes Kindler syndrome-like epidermolysis bullosa with multi-systemic manifestations including nephropathy. ( 29138120 )
2017
5
Erosive pustular dermatosis of the scalp and Kindler syndrome: a new association. ( 28869804 )
2017
6
Dysphagia Due to Kindler Syndrome. ( 28745323 )
2017
7
Kindler syndrome complicated by invasive squamous cell carcinoma of the palate. ( 28641957 )
2017
8
Aggressive periodontitis associated with Kindler syndrome in a large Kindler syndrome pedigree. ( 29168364 )
2017
9
Two novel mutations in KIND1 in Indian patients with Kindler syndrome. ( 27862150 )
2017
10
Kindler syndrome: a case of two Iranian sisters. ( 27391311 )
2016
11
UV-B-induced cutaneous inflammation and prospects for antioxidant treatment in Kindler syndrome. ( 27798104 )
2016
12
Homozygous Deletion Mutation of the FERMT1 Gene in a Chinese Patient with Kindler Syndrome. ( 27489438 )
2016
13
A Novel Nonsense Mutation in Exon 5 of KIND1 Gene in an Iranian Family with Kindler Syndrome. ( 27293055 )
2016
14
A Kindler syndrome-associated squamous cell carcinoma treated with radiotherapy. ( 27660560 )
2016
15
Oral manifestations in Kindler syndrome: Case report and discussion of literature findings. ( 26815761 )
2016
16
A novel mutation in the FERMT1 gene in Turkish siblings with Kindler syndrome. ( 25865288 )
2015
17
Acral skin atrophy in an infant: an early clue to Kindler syndrome diagnosis. ( 25764106 )
2015
18
Is adermatoglyphia an additional feature of Kindler Syndrome? ( 26375235 )
2015
19
A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases. ( 26083552 )
2015
20
A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. ( 26537214 )
2015
21
Kindler syndrome with severe mucosal involvement in a large Palestinian pedigree. ( 25515598 )
2015
22
The Kindler Syndrome: A Spectrum of FERMT1 Mutations in Iranian Families. ( 25599393 )
2015
23
Kindler syndrome protein Kindlin-1 is mainly expressed in adult tissues originating from ectoderm/endoderm. ( 25591451 )
2015
24
Kindler syndrome with palmoplantar hyperhidrosis and blonde hair. ( 26500863 )
2015
25
Nailfold capillaroscopic changes in Kindler syndrome. ( 26668784 )
2015
26
A case of Kindler syndrome with severe esophageal stenosis. ( 25556422 )
2015
27
Oxidative stress and mitochondrial dysfunction in Kindler syndrome. ( 25528446 )
2014
28
FERMT1 promoter mutations in patients with Kindler syndrome. ( 25156791 )
2014
29
Kindler syndrome in mice and men. ( 24919121 )
2014
30
Kindler syndrome: a close mimic of dyskeratosis congenita and the need to distinguish the two clinical entities. ( 24715947 )
2014
31
New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome. ( 24635080 )
2014
32
Kindler syndrome with severe mucosal involvement in childhood. ( 24635075 )
2014
33
Induction of senescence pathways in Kindler syndrome primary keratinocytes. ( 23278235 )
2013
34
Sporadic Kindler Syndrome with a novel mutation. ( 24346923 )
2013
35
The Missense Mutation p.R1303Q in Type XVII Collagen Underlies Junctional Epidermolysis Bullosa Resembling Kindler Syndrome. ( 24005051 )
2013
36
Kindler Syndrome with Severe Intestinal Involvement: A 31-year Follow-up. ( 24002169 )
2013
37
Corneal erosion and Kindler syndrome. ( 23241824 )
2013
38
Cutaneous and laryngeal squamous cell carcinoma in mixed epidermolysis bullosa, kindler syndrome. ( 22807896 )
2012
39
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan. ( 22220914 )
2012
40
Revertant mosaicism in Kindler syndrome. ( 22089829 )
2012
41
Congenital bullous poikiloderma (Kindler syndrome) - new mutation. ( 23078512 )
2012
42
Kindler syndrome: report of two cases. ( 23044576 )
2012
43
Synchronous bilateral breast cancer in a patient with kindler syndrome. ( 22054710 )
2012
44
Case of Kindler syndrome resulting from mutation in the FERMT1 gene. ( 22672060 )
2012
45
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. ( 21936020 )
2011
46
Novel and recurrent FERMT1 gene mutations in Kindler syndrome. ( 21336475 )
2011
47
What is Kindler syndrome? ( 21675491 )
2011
48
Expression of exon-8-skipped kindlin-1 does not compensate for defects of Kindler syndrome. ( 21146372 )
2011
49
Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. ( 19945623 )
2010
50
Kindler syndrome. ( 19945624 )
2010

Variations for Kindler Syndrome

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

75
# 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 260)
# 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 FERMT1, 1-BP INS, 1714A insertion Pathogenic
5 FERMT1 FERMT1, 1-BP DEL, 464A deletion Pathogenic
6 FERMT1 NM_017671.4(FERMT1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs121918293 GRCh37 Chromosome 20, 6088217: 6088217
7 FERMT1 NM_017671.4(FERMT1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs121918293 GRCh38 Chromosome 20, 6107570: 6107570
8 FERMT1 NM_017671.4(FERMT1): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121918294 GRCh37 Chromosome 20, 6078266: 6078266
9 FERMT1 NM_017671.4(FERMT1): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121918294 GRCh38 Chromosome 20, 6097619: 6097619
10 FERMT1 NM_017671.4(FERMT1): c.1867_1869delATC (p.Ile623del) deletion Pathogenic rs869312721 GRCh38 Chromosome 20, 6077338: 6077340
11 FERMT1 NM_017671.4(FERMT1): c.1867_1869delATC (p.Ile623del) deletion Pathogenic rs869312721 GRCh37 Chromosome 20, 6057985: 6057987
12 FERMT1 NM_017671.4(FERMT1): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs869312731 GRCh37 Chromosome 20, 6060095: 6060095
13 FERMT1 NM_017671.4(FERMT1): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs869312731 GRCh38 Chromosome 20, 6079448: 6079448
14 FERMT1 NM_017671.4(FERMT1): c.1675T> C (p.Trp559Arg) single nucleotide variant Pathogenic rs869312719 GRCh38 Chromosome 20, 6084083: 6084083
15 FERMT1 NM_017671.4(FERMT1): c.1675T> C (p.Trp559Arg) single nucleotide variant Pathogenic rs869312719 GRCh37 Chromosome 20, 6064730: 6064730
16 FERMT1 NM_017671.4(FERMT1): c.1383C> A (p.Tyr461Ter) single nucleotide variant Pathogenic rs142328166 GRCh37 Chromosome 20, 6065923: 6065923
17 FERMT1 NM_017671.4(FERMT1): c.1383C> A (p.Tyr461Ter) single nucleotide variant Pathogenic rs142328166 GRCh38 Chromosome 20, 6085276: 6085276
18 FERMT1 NM_017671.4(FERMT1): c.1198T> C (p.Ser400Pro) single nucleotide variant Pathogenic rs869312718 GRCh38 Chromosome 20, 6089031: 6089031
19 FERMT1 NM_017671.4(FERMT1): c.1198T> C (p.Ser400Pro) single nucleotide variant Pathogenic rs869312718 GRCh37 Chromosome 20, 6069678: 6069678
20 FERMT1 NM_017671.4(FERMT1): c.1176T> G (p.Tyr392Ter) single nucleotide variant Pathogenic rs869312730 GRCh38 Chromosome 20, 6089053: 6089053
21 FERMT1 NM_017671.4(FERMT1): c.1176T> G (p.Tyr392Ter) single nucleotide variant Pathogenic rs869312730 GRCh37 Chromosome 20, 6069700: 6069700
22 FERMT1 NM_017671.4(FERMT1): c.1161delA (p.Ala388Leufs) deletion Pathogenic rs869312729 GRCh37 Chromosome 20, 6069715: 6069715
23 FERMT1 NM_017671.4(FERMT1): c.1161delA (p.Ala388Leufs) deletion Pathogenic rs869312729 GRCh38 Chromosome 20, 6089068: 6089068
24 FERMT1 NM_017671.4(FERMT1): c.1139+740G> A single nucleotide variant Pathogenic rs869312728 GRCh38 Chromosome 20, 6094199: 6094199
25 FERMT1 NM_017671.4(FERMT1): c.1139+740G> A single nucleotide variant Pathogenic rs869312728 GRCh37 Chromosome 20, 6074846: 6074846
26 FERMT1 NM_017671.4(FERMT1): c.1139+2T> C single nucleotide variant Pathogenic rs869312727 GRCh38 Chromosome 20, 6094937: 6094937
27 FERMT1 NM_017671.4(FERMT1): c.1139+2T> C single nucleotide variant Pathogenic rs869312727 GRCh37 Chromosome 20, 6075584: 6075584
28 FERMT1 NM_017671.4(FERMT1): c.994_995delCA (p.Gln332Glyfs) deletion Pathogenic rs866141540 GRCh38 Chromosome 20, 6096996: 6096997
29 FERMT1 NM_017671.4(FERMT1): c.994_995delCA (p.Gln332Glyfs) deletion Pathogenic rs866141540 GRCh37 Chromosome 20, 6077643: 6077644
30 FERMT1 NM_017671.4(FERMT1): c.958-1G> A single nucleotide variant Pathogenic rs869312726 GRCh38 Chromosome 20, 6097034: 6097034
31 FERMT1 NM_017671.4(FERMT1): c.958-1G> A single nucleotide variant Pathogenic rs869312726 GRCh37 Chromosome 20, 6077681: 6077681
32 FERMT1 NM_017671.4(FERMT1): c.957+1G> A single nucleotide variant Pathogenic rs869312725 GRCh38 Chromosome 20, 6097523: 6097523
33 FERMT1 NM_017671.4(FERMT1): c.957+1G> A single nucleotide variant Pathogenic rs869312725 GRCh37 Chromosome 20, 6078170: 6078170
34 FERMT1 NM_017671.4(FERMT1): c.910G> T (p.Glu304Ter) single nucleotide variant Pathogenic rs146180696 GRCh38 Chromosome 20, 6097571: 6097571
35 FERMT1 NM_017671.4(FERMT1): c.910G> T (p.Glu304Ter) single nucleotide variant Pathogenic rs146180696 GRCh37 Chromosome 20, 6078218: 6078218
36 FERMT1 NM_017671.4(FERMT1): c.889A> G (p.Arg297Gly) single nucleotide variant Pathogenic rs779612399 GRCh37 Chromosome 20, 6078239: 6078239
37 FERMT1 NM_017671.4(FERMT1): c.889A> G (p.Arg297Gly) single nucleotide variant Pathogenic rs779612399 GRCh38 Chromosome 20, 6097592: 6097592
38 FERMT1 NM_017671.4(FERMT1): c.550_551insA (p.Ser184Lysfs) duplication Pathogenic rs869312724 GRCh37 Chromosome 20, 6091141: 6091141
39 FERMT1 NM_017671.4(FERMT1): c.550_551insA (p.Ser184Lysfs) duplication Pathogenic rs869312724 GRCh38 Chromosome 20, 6110494: 6110494
40 FERMT1 NM_017671.4(FERMT1): c.373delT (p.Cys125Alafs) deletion Pathogenic rs869312723 GRCh37 Chromosome 20, 6096470: 6096470
41 FERMT1 NM_017671.4(FERMT1): c.373delT (p.Cys125Alafs) deletion Pathogenic rs869312723 GRCh38 Chromosome 20, 6115823: 6115823
42 FERMT1 NM_017671.4(FERMT1): c.299_301delGTC (p.Arg100del) deletion Pathogenic rs869312720 GRCh38 Chromosome 20, 6115895: 6115897
43 FERMT1 NM_017671.4(FERMT1): c.299_301delGTC (p.Arg100del) deletion Pathogenic rs869312720 GRCh37 Chromosome 20, 6096542: 6096544
44 FERMT1 NM_017671.4(FERMT1): c.-20A> G single nucleotide variant Pathogenic rs869312722 GRCh37 Chromosome 20, 6103422: 6103422
45 FERMT1 NM_017671.4(FERMT1): c.-20A> G single nucleotide variant Pathogenic rs869312722 GRCh38 Chromosome 20, 6122775: 6122775
46 FERMT1 NM_017671.4: c.676insC insertion Pathogenic
47 FERMT1 g.-711-1241del undetermined variant Pathogenic
48 FERMT1 g.6109589_6112605del undetermined variant Pathogenic
49 FERMT1 g.6116239_6120157del undetermined variant Pathogenic
50 FERMT1 g.6109607_6112272del undetermined variant Pathogenic

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

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 focal adhesion GO:0005925 9.46 DST FBLIM1 FERMT1 RDX
4 basement membrane GO:0005604 9.4 COL7A1 DST
5 cell leading edge GO:0031252 9.32 DST ITGB4
6 cell junction GO:0030054 9.02 DST FBLIM1 FERMT1 FERMT3 ITGB4
7 hemidesmosome GO:0030056 8.96 DST ITGB4

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 9.26 DST ITGB4
2 integrin-mediated signaling pathway GO:0007229 9.26 DST FERMT1 FERMT3 ITGB4
3 cell motility GO:0048870 9.16 DST 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:

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