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KNDLRS
MCID: KND001
MIFTS: 63

Kindler Syndrome (KNDLRS)

Categories: Genetic diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Kindler Syndrome

About this section

MalaCards integrated aliases for Kindler Syndrome:

Name: Kindler Syndrome 56 12 24 52 25 58 73 36 13 54 15
Poikiloderma of Kindler 12 74 52 25 58 43 71
Congenital Bullous Poikiloderma 24 52 25 58
Kindler's Syndrome 25 29 6 39
Bullous Acrokeratotic Poikiloderma of Kindler and Weary 56 52 73
Poikiloderma, Congenital, with Bullae, Weary Type 56 52
Poikiloderma Congenital with Bullae Weary Type 74 73
Poikiloderma, Hereditary Acrokeratotic 56 52
Kndlrs 56 73
Hereditary Acrokeratotic Poikiloderma of Kindler-Weary 12
Hereditary Acrokeratotic Poikiloderma 58
Poikiloderma Hereditary Acrokeratotic 73
Potassium Deficiency 71
Weary Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
kindler syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
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:

31
kindler syndrome:
Inheritance autosomal recessive inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases


Sources

Summaries for Kindler Syndrome

About this section
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. From early infancy, people with Kindler syndrome have skin blistering, particularly on the backs of the hands and the tops of the feet. The blisters occur less frequently over time, although repeated blistering on the hands can cause scarring that fuses the skin between the fingers and between the toes. Affected individuals also develop thin, papery skin starting on the hands and feet and later affecting other parts of the body. Other skin abnormalities that occur with Kindler syndrome include patchy changes in skin coloring and small clusters of blood vessels just under the skin (telangiectases), a combination known as poikiloderma. In some affected individuals, the skin on the palms of the hands and soles of the feet thickens and hardens (hyperkeratosis). Kindler syndrome can also cause people to be highly sensitive to ultraviolet (UV) rays from the sun and to sunburn easily. Kindler syndrome can also affect the moist lining (mucosae) of the mouth, eyes, esophagus, intestines, genitals, and urinary system, causing these tissues to be very fragile and easily damaged. Affected individuals commonly develop severe gum disease that can lead to early tooth loss. The moist tissues that line the eyelids and the white part of the eyes (the conjunctiva) can become inflamed (conjunctivitis), and damage to the clear outer covering of the eye (the cornea) can affect vision. Narrowing (stenosis) of the esophagus, which is the tube that carries food from the mouth to the stomach, causes difficulty with swallowing that worsens over time. Some affected individuals develop health problems related to inflammation of the colon (colitis) or damage to the mucosa in the vagina, the anus, or the tube that carries urine from the bladder out of the body (the urethra). Kindler syndrome increases the risk of developing a form of cancer called squamous cell carcinoma. This type of cancer arises from squamous cells, which are found in the outer layer of skin (the epidermis) and in the mucosae. In people with Kindler syndrome, squamous cell carcinoma occurs most often on the skin, lips, and the lining of the mouth (oral mucosa).

MalaCards based summary : Kindler Syndrome, also known as poikiloderma of kindler, is related to epidermolysis bullosa and bullous pemphigoid, 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 Integrin Pathway and Phospholipase-C Pathway. The drugs Mifepristone and Progesterone have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and colon, 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.

NIH Rare Diseases : 52 Kindler syndrome is 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 ).

OMIM : 56 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)

KEGG : 36 Kinder syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity.

UniProtKB/Swiss-Prot : 73 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 : 74 Kindler syndrome (also known as "bullous acrokeratotic poikiloderma of Kindler and Weary",) is a rare... more...

GeneReviews: NBK349072
Sources

Related Diseases for Kindler Syndrome

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

(show top 50) (show all 100)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 30.3 KRT15 ITGB4 ITGA6 DST COL7A1 COL17A1
2 bullous pemphigoid 29.4 ITGB4 ITGA6 DST COL17A1
3 skin disease 29.3 ITGB4 ITGA6 DST COL7A1 COL17A1
4 epidermolysis bullosa dystrophica 29.0 NAT9 FERMT1 DST COL7A1 COL17A1
5 epidermolysis bullosa simplex 28.7 KRT15 ITGB4 DST COL7A1 COL17A1
6 junctional epidermolysis bullosa 28.6 ITGB4 ITGA6 DST COL7A1 COL17A1
7 erythrokeratoderma ''en cocardes'' 10.6
8 skin atrophy 10.5
9 autosomal recessive disease 10.5
10 periodontitis 10.4
11 ectropion 10.3
12 skin carcinoma 10.3
13 rare genetic skin disease 10.3
14 keratosis 10.3
15 squamous cell carcinoma 10.3
16 gingivitis 10.3
17 leukocyte adhesion deficiency, type i 10.3 FERMT3 FERMT2 FERMT1
18 phimosis 10.2
19 dysphagia 10.2
20 inherited epidermolysis bullosa 10.2
21 dowling-degos disease 1 10.2
22 chromosome 2q35 duplication syndrome 10.2
23 telangiectasis 10.2
24 aggressive periodontitis 10.2
25 hard palate cancer 10.2
26 obsolete: hereditary acrokeratotic poikiloderma of kindler-weary 10.2
27 epidermolysis bullosa with pyloric atresia 10.2 ITGB4 ITGA6
28 neisseria meningitidis infection 10.1 MSN EZR
29 breast cancer 10.1
30 mucositis 10.1
31 dyskeratosis congenita 10.1
32 pseudoainhum 10.1
33 premature aging 10.1
34 lichen planus pemphigoides 10.1 ITGB4 DST COL17A1
35 pyloric atresia 10.1 ITGB4 ITGA6 COL17A1
36 pemphigoid gestationis 10.1 DST COL17A1
37 linear iga disease 10.0 ITGB4 DST COL17A1
38 deafness, autosomal recessive 24 10.0 RDX EZR
39 meningioma, radiation-induced 10.0 RDX MSN EZR
40 neurofibromatosis, type iv, of riccardi 9.9 RDX MSN EZR
41 paraneoplastic pemphigus 9.9 DST COL17A1
42 ankyloglossia with or without tooth anomalies 9.9
43 autoimmune disease 9.9
44 adermatoglyphia 9.9
45 keratitis, hereditary 9.9
46 bloom syndrome 9.9
47 rothmund-thomson syndrome, type 2 9.9
48 xeroderma pigmentosum, variant type 9.9
49 yemenite deaf-blind hypopigmentation syndrome 9.9
50 cholangitis, primary sclerosing 9.9

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



Diseases related to Kindler Syndrome
Sources

Symptoms & Phenotypes for Kindler Syndrome

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Human phenotypes related to Kindler Syndrome:

58 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008064
2 palmoplantar keratoderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0000982
3 abnormal blistering of the skin 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008066
4 cutaneous photosensitivity 58 31 hallmark (90%) Very frequent (99-80%) HP:0000992
5 erythema 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010783
6 telangiectasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0100585
7 papule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200034
8 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
9 gingivitis 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000230
10 urticaria 58 31 hallmark (90%) Very frequent (99-80%) HP:0001025
11 hypopigmented skin patches 58 31 hallmark (90%) Very frequent (99-80%) HP:0001053
12 cheilitis 58 31 hallmark (90%) Very frequent (99-80%) HP:0100825
13 aplasia/hypoplasia of the skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0008065
14 irregular hyperpigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007400
15 eczema 58 31 hallmark (90%) Very frequent (99-80%) HP:0000964
16 dystrophic toenail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001810
17 dystrophic fingernails 58 31 hallmark (90%) Very frequent (99-80%) HP:0008391
18 pustule 58 31 hallmark (90%) Very frequent (99-80%) HP:0200039
19 poikiloderma 58 31 hallmark (90%) Very frequent (99-80%) HP:0001029
20 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0006323
21 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0006101
22 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
23 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
24 skin ulcer 58 31 frequent (33%) Frequent (79-30%) HP:0200042
25 narrow mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000160
26 xerostomia 58 31 frequent (33%) Frequent (79-30%) HP:0000217
27 gingival bleeding 58 31 frequent (33%) Frequent (79-30%) HP:0000225
28 abnormality of skin pigmentation 58 31 frequent (33%) Frequent (79-30%) HP:0001000
29 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
30 turricephaly 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000262
31 periodontitis 58 31 frequent (33%) Frequent (79-30%) HP:0000704
32 esophagitis 58 31 frequent (33%) Frequent (79-30%) HP:0100633
33 camptodactyly of finger 58 31 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0100490
34 abnormal pigmentation of the oral mucosa 58 31 frequent (33%) Frequent (79-30%) HP:0100669
35 abnormal toenail morphology 58 31 frequent (33%) Frequent (79-30%) HP:0008388
36 recurrent skin infections 58 31 frequent (33%) Frequent (79-30%) HP:0001581
37 oral leukoplakia 58 31 frequent (33%) Frequent (79-30%) HP:0002745
38 abnormality of the preputium 58 31 frequent (33%) Frequent (79-30%) HP:0100587
39 palmoplantar hyperkeratosis 58 31 frequent (33%) Frequent (79-30%) HP:0000972
40 ankyloglossia 58 31 frequent (33%) Frequent (79-30%) HP:0010296
41 colitis 58 31 frequent (33%) Frequent (79-30%) HP:0002583
42 esophageal stricture 58 31 frequent (33%) Frequent (79-30%) HP:0002043
43 phimosis 58 31 frequent (33%) Frequent (79-30%) HP:0001741
44 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
45 corneal opacity 58 31 occasional (7.5%) Occasional (29-5%) HP:0007957
46 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
47 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
48 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
49 opacification of the corneal stroma 58 31 occasional (7.5%) Occasional (29-5%) HP:0007759
50 joint hyperflexibility 58 31 occasional (7.5%) Occasional (29-5%) HP:0005692

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
phimosis

Head And Neck Teeth:
dental caries
periodontal disease

Skeletal Hands:
digital webbing

Skin Nails Hair Skin:
telangiectases in sun-exposed and nonexposed skin
hyperkeratosis of palms and soles
skin fragility
neonatal acral blistering
sun sensitivity
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

GenomeRNAi Phenotypes related to Kindler Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased G2M DNA content, increased 8N DNA content GR00098-A-1 9.17 EZR FBLIM1 FERMT1 FERMT2 ITGA6 MSN

MGI Mouse Phenotypes related to Kindler Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 digestive/alimentary MP:0005381 9.76 COL7A1 EZR FERMT1 FERMT3 ITGA6 ITGB4
2 immune system MP:0005387 9.61 CD151 EZR FBLIM1 FERMT1 FERMT3 ITGA6
3 integument MP:0010771 9.17 CD151 COL7A1 FERMT1 FERMT3 ITGA6 ITGB4
Sources

Drugs & Therapeutics for Kindler Syndrome

About this section

Drugs for Kindler Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 102)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Mifepristone Approved, Investigational Phase 4 84371-65-3 55245
2
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
3 Hormone Antagonists Phase 4
4 Hormones Phase 4
5 Contraceptives, Postcoital Phase 4
6 Contraceptive Agents Phase 4
7 Contraceptives, Oral Phase 4
8 Luteolytic Agents Phase 4
9
tannic acid Approved Phase 2 1401-55-4
10
Benzocaine Approved, Investigational Phase 2 1994-09-7, 94-09-7 2337
11 Hypoglycemic Agents Phase 2
12 Insulin, Globin Zinc Phase 2
13 insulin Phase 2
14 Grape Approved Phase 1
15 Potassium Supplement Phase 1
16
Spironolactone Approved 1952-01-7, 52-01-7 5833
17
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
18
Dexmedetomidine Approved, Vet_approved 113775-47-6 68602 5311068
19
Remifentanil Approved 132875-61-7 60815
20
Tranexamic Acid Approved 1197-18-8 5526
21
Cefepime Approved, Investigational 88040-23-7 5479537
22
Piperacillin Approved 66258-76-2 43672
23
Ciprofloxacin Approved, Investigational 85721-33-1 2764
24
Warfarin Approved 81-81-2 6691 54678486
25
Methylprednisolone Approved, Vet_approved 83-43-2 6741
26
Fosfomycin Approved 23155-02-4 446987
27
Amikacin Approved, Investigational, Vet_approved 37517-28-5 37768
28
Haloperidol Approved 52-86-8 3559
29
Labetalol Approved 36894-69-6 3869
30
Tobramycin Approved, Investigational 32986-56-4 5496 36294
31
Methylprednisolone hemisuccinate Approved 2921-57-5
32
Zolpidem Approved 82626-48-0 5732
33
Prednisolone phosphate Approved, Vet_approved 302-25-0
34
Tazobactam Approved 89786-04-9 123630
35
Nifedipine Approved 21829-25-4 4485
36
Prednisolone Approved, Vet_approved 50-24-8 5755
37
Molindone Approved 7416-34-4 23897
38 Prednisolone acetate Approved, Vet_approved 52-21-1
39
Rocuronium Approved 119302-91-9, 143558-00-3 441290
40
Sevelamer Approved 52757-95-6
41
Alfentanil Approved, Illicit 71195-58-9 51263
42
Ziprasidone Approved 146939-27-7 60854
43
Bosentan Approved, Investigational 147536-97-8 104865
44
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
45
Clozapine Approved 5786-21-0 2818
46
Pentobarbital Approved, Investigational, Vet_approved 76-74-4 4737
47
Cidofovir Approved 113852-37-2 60613
48
Nafcillin Approved, Investigational 147-52-4, 985-16-0 8982
49
Aminocaproic acid Approved, Investigational 60-32-2 564
50
Vancomycin Approved 1404-90-6 441141 14969

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Efficacy of KCl Plus 0.9%NaCl Compare With KCl Plus 0.45%NaCl for Correction of Hypokalemia in Hospitalized Patients Unknown status NCT02721095 Phase 4
2 Comparison of Enteral Versus Intravenous Potassium Supplementation in Hypokalemia in Post Cardiac Surgery Pediatric Cardiac Intensive Care Patients - Prospective Open Label Randomized Control Trial Unknown status NCT02015962 Phase 4 Intravenous potassium chloride;Oral potassium chloride
3 Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome) Completed NCT02297048 Phase 4
4 Assessing the Safety of a Continuous Potassium Chloride Infusion in Critical Care: A Randomised Controlled Trial Completed NCT00718068 Phase 4 Sterile Potassium Chloride Concentrate;Sterile Potassium Chloride Concentrate
5 The Effects of Potassium on Glucose Metabolism in African Americans Completed NCT02236598 Phase 2 K+ supplement;Placebo
6 Pilot Study of Potassium Supplementation in the Treatment of Rheumatoid Arthritis: a 4-Week, Randomized, Double-Blind, Placebo-Controlled Trial Completed NCT00461448 Phase 1
7 Hypokalemia in Hospitalized Patients for Heart Failure in the Therapeutic Cardiac Failure Unit: Morbidity-mortality Impact Completed NCT03405051
8 Spironolactone to Decrease Potassium Wasting in Hypercalciuric Patients Treated With Thiazide Diuretics Completed NCT00276289 Spironolactone
9 Hypokalemia and Intravenous Patient Controlled Analgesia Completed NCT01269099 IV-PCA;Control
10 The Comparison of Serum Potassium Concentration, Antiarrhythmic Effect, and Myocardial Protective Effect Between Dexmedetomidine and Remifentanil Infusion in Patients Undergoing Coronary Artery Bypass Surgery Completed NCT01572454 Dexmedetomidine infusion;Remifentanil infusion
11 Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care Completed NCT01431326 The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:
12 Renoprotective Effects of Potassium Supplementation in Chronic Kidney Disease (CKD) Recruiting NCT03253172

Search NIH Clinical Center for Kindler Syndrome

Cochrane evidence based reviews: poikiloderma of kindler

Sources

Genetic Tests for Kindler Syndrome

About this section

Genetic tests related to Kindler Syndrome:

# Genetic test Affiliating Genes
1 Kindler's Syndrome 29 FERMT1
Sources

Anatomical Context for Kindler Syndrome

About this section

MalaCards organs/tissues related to Kindler Syndrome:

40
Skin, Eye, Colon, Breast, Bone, Heart, Kidney
Sources

Publications for Kindler Syndrome

About this section

Articles related to Kindler Syndrome:

(show top 50) (show all 210)
# Title Authors PMID Year
1
Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome. 54 61 24 56 6
12789646 2003
2
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. 61 24 56 6
12668616 2003
3
Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. 61 24 56
9301588 1997
4
[Bullous and hereditary Weary-Kindler's acrokeratotic poikiloderma (author's transl)]. 24 56
7015974 1981
5
Hereditary acrokeratotic poikiloderma. 24 56
4253719 1971
6
Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. 24 56
13149722 1954
7
Kindler Syndrome 61 6
26937547 2016
8
Induction of phenotype modifying cytokines by FERMT1 mutations. 61 56
21309038 2011
9
Kindlins: essential regulators of integrin signalling and cell-matrix adhesion. 54 61 24
18997731 2008
10
Molecular basis of Kindler syndrome in Italy: novel and recurrent Alu/Alu recombination, splice site, nonsense, and frameshift mutations in the KIND1 gene. 54 61 24
16675959 2006
11
Recurrent mutations in kindlin-1, a novel keratinocyte focal contact protein, in the autosomal recessive skin fragility and photosensitivity disorder, Kindler syndrome. 54 61 24
14962093 2004
12
Kindler syndrome in a Saudi kindred. 61 56
12472544 2002
13
A Japanese case of Kindler syndrome. 61 56
10809978 2000
14
Kindler syndrome. Clinical and ultrastructural findings. 61 56
8961879 1996
15
Early-onset periodontitis associated with Weary-Kindler syndrome: a case report. 61 56
8910840 1996
16
Kindler syndrome in two related Kurdish families. 61 56
3970073 1985
17
Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment. 61 24
26827766 2016
18
A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases. 61 24
26083552 2015
19
A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. 61 24
26537214 2015
20
Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran. 61 24
26220012 2015
21
FERMT1 promoter mutations in patients with Kindler syndrome. 61 24
25156791 2015
22
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 61 24
25599393 2015
23
New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome. 61 24
24635080 2014
24
Induction of senescence pathways in Kindler syndrome primary keratinocytes. 61 24
23278235 2013
25
Corneal erosion and Kindler syndrome. 61 24
23241824 2013
26
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan. 61 24
22220914 2012
27
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. 61 24
21936020 2011
28
Kindler syndrome causing severe cicatricial ectropion. 61 24
20592640 2010
29
Kindler syndrome. 61 24
19945624 2010
30
Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer. 61 24
20938162 2010
31
A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome. 61 24
19292718 2009
32
Kindler syndrome: a focal adhesion genodermatosis. 61 24
19120339 2009
33
A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. 61 24
18835760 2008
34
Pregnancy and delivery with Kindler syndrome. 61 24
17284921 2007
35
Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement. 61 24
17989907 2007
36
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. 61 24
17178989 2006
37
Aggressive squamous cell carcinoma in Kindler syndrome. 61 24
17086002 2006
38
Kindler syndrome in native Americans from Panama: report of 26 cases. 61 24
15313809 2004
39
Kindler syndrome complicated by squamous cell carcinoma of the hard palate: successful treatment with high-dose radiation therapy and granulocyte-macrophage colony-stimulating factor. 61 24
11422071 2001
40
[Poikiloderma congenitale with bullae, of the Weary type]. 56
7015975 1981
41
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. 24
24690439 2014
42
Hereditary sclerosing poikiloderma. 24
22323875 2012
43
The role of kindlins in cell biology and relevance to human disease. 54 61
19854292 2010
44
Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. 54 61
19945623 2010
45
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. 54 61
19762710 2009
46
Localization and potential function of kindlin-1 in periodontal tissues. 54 61
19758247 2009
47
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. 54 61
19762715 2009
48
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. 54 61
18528435 2008
49
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 24
18374450 2008
50
Kindlin-3 is essential for integrin activation and platelet aggregation. 24
18278053 2008
Sources

Variations for Kindler Syndrome

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ClinVar genetic disease variations for Kindler Syndrome:

6 (show top 50) (show all 135) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 FERMT1 NM_017671.4(FERMT1):c.1867_1869del (p.Ile623del)deletion Pathogenic 224168 rs869312721 20:6057985-6057987 20:6077338-6077340
2 FERMT1 NM_017671.4(FERMT1):c.1848G>A (p.Trp616Ter)SNV Pathogenic 224182 rs869312731 20:6060095-6060095 20:6079448-6079448
3 FERMT1 NM_017671.4(FERMT1):c.1675T>C (p.Trp559Arg)SNV Pathogenic 224166 rs869312719 20:6064730-6064730 20:6084083-6084083
4 FERMT1 NM_017671.4(FERMT1):c.1383C>A (p.Tyr461Ter)SNV Pathogenic 224181 rs142328166 20:6065923-6065923 20:6085276-6085276
5 FERMT1 NM_017671.4(FERMT1):c.1198T>C (p.Ser400Pro)SNV Pathogenic 224165 rs869312718 20:6069678-6069678 20:6089031-6089031
6 FERMT1 NM_017671.4(FERMT1):c.1176T>G (p.Tyr392Ter)SNV Pathogenic 224180 rs869312730 20:6069700-6069700 20:6089053-6089053
7 FERMT1 NM_017671.4(FERMT1):c.1161del (p.Ala388fs)deletion Pathogenic 224179 rs869312729 20:6069715-6069715 20:6089068-6089068
8 FERMT1 NM_017671.4(FERMT1):c.1139+740G>ASNV Pathogenic 224178 rs869312728 20:6074846-6074846 20:6094199-6094199
9 FERMT1 NM_017671.4(FERMT1):c.1139+2T>CSNV Pathogenic 224177 rs869312727 20:6075584-6075584 20:6094937-6094937
10 FERMT1 NM_017671.4(FERMT1):c.992_993CA[1] (p.Gln332fs)short repeat Pathogenic 224176 rs866141540 20:6077643-6077644 20:6096996-6096997
11 FERMT1 NM_017671.4(FERMT1):c.958-1G>ASNV Pathogenic 224175 rs869312726 20:6077681-6077681 20:6097034-6097034
12 FERMT1 NM_017671.4(FERMT1):c.957+1G>ASNV Pathogenic 224174 rs869312725 20:6078170-6078170 20:6097523-6097523
13 FERMT1 NM_017671.4(FERMT1):c.910G>T (p.Glu304Ter)SNV Pathogenic 224173 rs146180696 20:6078218-6078218 20:6097571-6097571
14 FERMT1 NM_017671.4(FERMT1):c.889A>G (p.Arg297Gly)SNV Pathogenic 224164 rs779612399 20:6078239-6078239 20:6097592-6097592
15 FERMT1 NM_017671.4(FERMT1):c.550dup (p.Ser184fs)duplication Pathogenic 224171 rs869312724 20:6091140-6091141 20:6110493-6110494
16 FERMT1 NM_017671.4(FERMT1):c.373del (p.Cys125fs)deletion Pathogenic 224170 rs869312723 20:6096470-6096470 20:6115823-6115823
17 FERMT1 NM_017671.4(FERMT1):c.299_301del (p.Arg100del)deletion Pathogenic 224167 rs869312720 20:6096542-6096544 20:6115895-6115897
18 FERMT1 NM_017671.4(FERMT1):c.-20A>GSNV Pathogenic 224169 rs869312722 20:6103422-6103422 20:6122775-6122775
19 FERMT1 NM_017671.4:c.676insCinsertion Pathogenic 224172
20 FERMT1 NM_017671.4(FERMT1):c.0_-19+470deldeletion Pathogenic 224183 20:6102951-6104903 20:6122304-6124256
21 FERMT1 NM_017671.4(FERMT1):c.850-272_1139+53deldeletion Pathogenic 224184 20:6075533-6078550 20:6094886-6097903
22 FERMT1 g.6116239_6120157delundetermined variant Pathogenic 224185
23 FERMT1 g.6109607_6112272delundetermined variant Pathogenic 224186
24 FERMT1 FERMT1, IVS3DS, T-C, +2SNV Pathogenic 2713
25 FERMT1 NM_017671.4(FERMT1):c.787C>T (p.Gln263Ter)SNV Pathogenic 2714 rs121918292 20:6088241-6088241 20:6107594-6107594
26 FERMT1 NM_017671.4(FERMT1):c.1714_1715insA (p.Val572fs)insertion Pathogenic 2715 rs1568654138 20:6064690-6064691 20:6084043-6084044
27 FERMT1 NM_017671.4(FERMT1):c.464del (p.Asn155fs)deletion Pathogenic 2716 rs1568664492 20:6093192-6093192 20:6112545-6112545
28 FERMT1 NM_017671.4(FERMT1):c.811C>T (p.Arg271Ter)SNV Pathogenic 2717 rs121918293 20:6088217-6088217 20:6107570-6107570
29 FERMT1 NM_017671.4(FERMT1):c.862C>T (p.Arg288Ter)SNV Pathogenic 2718 rs121918294 20:6078266-6078266 20:6097619-6097619
30 FERMT1 NM_017671.4(FERMT1):c.676dup (p.Gln226fs)duplication Pathogenic 419593 rs748240859 20:6091014-6091015 20:6110367-6110368
31 FERMT1 NM_017671.4(FERMT1):c.1416G>A (p.Ser472=)SNV Conflicting interpretations of pathogenicity 339215 rs148992845 20:6065890-6065890 20:6085243-6085243
32 FERMT1 NM_017671.4(FERMT1):c.1014C>T (p.Ser338=)SNV Conflicting interpretations of pathogenicity 339221 rs138986656 20:6077624-6077624 20:6096977-6096977
33 FERMT1 NM_017671.4(FERMT1):c.1600G>A (p.Ala534Thr)SNV Conflicting interpretations of pathogenicity 339211 rs2232078 20:6064805-6064805 20:6084158-6084158
34 FERMT1 NM_017671.4(FERMT1):c.1861-8T>CSNV Conflicting interpretations of pathogenicity 339207 rs2232082 20:6058001-6058001 20:6077354-6077354
35 FERMT1 NM_017671.4(FERMT1):c.1594-6G>ASNV Conflicting interpretations of pathogenicity 339212 rs6053893 20:6064817-6064817 20:6084170-6084170
36 FERMT1 NM_017671.4(FERMT1):c.1575_1577delinsGAA (p.Arg526Lys)indel Uncertain significance 339213 rs386812146 20:6065729-6065731 20:6085082-6085084
37 FERMT1 NM_017671.4(FERMT1):c.*1472G>ASNV Uncertain significance 339179 rs41282954 20:6056348-6056348 20:6075701-6075701
38 FERMT1 NM_017671.4(FERMT1):c.*1035C>TSNV Uncertain significance 339188 rs578179571 20:6056785-6056785 20:6076138-6076138
39 FERMT1 NM_017671.4(FERMT1):c.*932C>TSNV Uncertain significance 339192 rs781104279 20:6056888-6056888 20:6076241-6076241
40 FERMT1 NM_017671.4(FERMT1):c.*896G>CSNV Uncertain significance 339194 rs886056897 20:6056924-6056924 20:6076277-6076277
41 FERMT1 NM_017671.4(FERMT1):c.*438C>TSNV Uncertain significance 339197 rs576410071 20:6057382-6057382 20:6076735-6076735
42 FERMT1 NM_017671.4(FERMT1):c.*251C>GSNV Uncertain significance 339199 rs368493929 20:6057569-6057569 20:6076922-6076922
43 FERMT1 NM_017671.4(FERMT1):c.-514T>GSNV Uncertain significance 339251 rs73604924 20:6103916-6103916 20:6123269-6123269
44 FERMT1 NM_017671.4(FERMT1):c.-606G>CSNV Uncertain significance 339254 rs192668028 20:6104008-6104008 20:6123361-6123361
45 FERMT1 NM_017671.4(FERMT1):c.-655C>TSNV Uncertain significance 339258 rs188963072 20:6104057-6104057 20:6123410-6123410
46 FERMT1 NM_017671.4(FERMT1):c.*2204T>CSNV Uncertain significance 339166 rs369543395 20:6055616-6055616 20:6074969-6074969
47 FERMT1 NM_017671.4(FERMT1):c.*2127dupduplication Uncertain significance 339167 rs139990090 20:6055692-6055693 20:6075045-6075046
48 FERMT1 NM_017671.4(FERMT1):c.*2124_*2125deldeletion Uncertain significance 339168 rs886056892 20:6055695-6055696 20:6075048-6075049
49 FERMT1 NM_017671.4(FERMT1):c.1074A>G (p.Lys358=)SNV Uncertain significance 339219 rs758819322 20:6077564-6077564 20:6096917-6096917
50 FERMT1 NM_017671.4(FERMT1):c.780A>G (p.Gln260=)SNV Uncertain significance 339223 rs754424986 20:6088248-6088248 20:6107601-6107601

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

73
# Symbol AA change Variation ID SNP ID
1 FERMT1 p.Ser400Pro VAR_066943 rs869312718
2 FERMT1 p.Trp559Arg VAR_066944 rs869312719

Copy number variations for Kindler Syndrome from CNVD:

7
# CNVD ID Chromosome 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
Sources

Expression for Kindler Syndrome

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Search GEO for disease gene expression data for Kindler Syndrome.
Sources

Pathways for Kindler Syndrome

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

(show all 20)
# Super pathways Score Top Affiliating Genes
1
Integrin Pathway 63
Show member pathways
 13.17 TGFB1 RDX MSN ITGB4 ITGA6 EZR
2
Phospholipase-C Pathway 63
Show member pathways
 12.86 TGFB1 ITGB4 ITGA6 COL7A1 COL17A1
3
Collagen chain trimerization 65
Show member pathways
 12.61 ITGB4 ITGA6 DST COL7A1 COL17A1 CD151
4
Regulation of actin cytoskeleton 36 1
12.46 RDX MSN ITGB4 ITGA6 EZR
5
Degradation of the extracellular matrix 65
Show member pathways
 12.45 TGFB1 ITGB4 ITGA6 DST COL7A1 COL17A1
6
Cell junction organization 65
Show member pathways
 12.32 ITGB4 ITGA6 FERMT2 FBLIM1 DST COL17A1
7
Cytoskeletal Signaling 4
12.29 RDX MSN FERMT2 FERMT1 EZR CD151
8
Proteoglycans in cancer 36
12.12 TGFB1 RDX MSN EZR
9
Tight junction 36
12 RDX MSN EZR
10
L1CAM interactions 65
Show member pathways
 11.83 RDX MSN EZR
11
Reelin Pathway (Cajal-Retzius cells) 63
11.76 ITGB4 ITGA6 EZR
12
Endocytic Trafficking of EGFR 63
Show member pathways
 11.6 RDX MSN EZR
13
Primary Focal Segmental Glomerulosclerosis FSGS 1
11.57 TGFB1 ITGB4 CD151
14
G-protein signaling_RhoA regulation pathway 22
11.54 TGFB1 ITGB4 ITGA6 EZR
15
Cytoskeleton remodeling_RalA regulation pathway 22
11.31 RDX MSN ITGB4 ITGA6 EZR
16
RhoA signaling pathway 1
11.27 RDX MSN EZR
17
Adhesion 4
11.19 ITGB4 ITGA6 FERMT3 FERMT2 FERMT1 CD151
18
a6b1 and a6b4 Integrin signaling 1
11.12 ITGB4 ITGA6 COL17A1
20
G-protein signaling_Rap2B regulation pathway 22
10.46 TGFB1 RDX MSN ITGB4 ITGA6 EZR
Sources

GO Terms for Kindler Syndrome

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

(show all 18)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.29 TGFB1 RDX MSN ITGB4 ITGA6 FERMT2
2 cytoskeleton GO:0005856 10.02 RDX MSN FERMT2 FERMT1 FBLIM1 EZR
3 cell projection GO:0042995 9.95 RDX MSN FERMT3 FERMT2 FERMT1 EZR
4 cell surface GO:0009986 9.91 TGFB1 MSN ITGB4 ITGA6 FERMT2 CD151
5 cell junction GO:0030054 9.91 ITGB4 FERMT3 FERMT2 FERMT1 FBLIM1 DST
6 cell cortex GO:0005938 9.75 FERMT2 EZR DST
7 apical part of cell GO:0045177 9.7 RDX MSN EZR
8 cell periphery GO:0071944 9.67 RDX MSN EZR
9 filopodium GO:0030175 9.62 RDX MSN ITGA6 EZR
10 integrin complex GO:0008305 9.57 ITGB4 ITGA6
11 microvillus membrane GO:0031528 9.56 MSN EZR
12 microvillus GO:0005902 9.56 TGFB1 RDX MSN EZR
13 basement membrane GO:0005604 9.55 ITGA6 DST COL7A1 COL17A1 CD151
14 uropod GO:0001931 9.54 MSN EZR
15 invadopodium GO:0071437 9.51 MSN EZR
16 cell tip GO:0051286 9.46 RDX EZR
17 focal adhesion GO:0005925 9.32 RDX MSN ITGB4 ITGA6 FERMT2 FERMT1
18 hemidesmosome GO:0030056 9.26 ITGB4 ITGA6 DST COL17A1

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

(show all 32)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.96 TGFB1 RDX MSN EZR
2 positive regulation of cell migration GO:0030335 9.88 TGFB1 RDX ITGA6 FERMT3 CD151
3 extracellular matrix organization GO:0030198 9.87 ITGB4 ITGA6 COL7A1 COL17A1
4 cytoskeleton organization GO:0007010 9.83 MSN KRT15 DST
5 cell adhesion GO:0007155 9.81 ITGB4 ITGA6 FERMT3 FERMT2 FERMT1 FBLIM1
6 cell-matrix adhesion GO:0007160 9.8 ITGB4 ITGA6 FERMT2 COL17A1
7 regulation of cell shape GO:0008360 9.8 RDX MSN FERMT2 FBLIM1 EZR
8 epidermis development GO:0008544 9.79 KRT15 COL7A1 COL17A1
9 response to wounding GO:0009611 9.75 TGFB1 ITGB4 DST
10 digestive tract development GO:0048565 9.71 TGFB1 ITGB4 ITGA6
11 leukocyte cell-cell adhesion GO:0007159 9.7 MSN FERMT3 EZR
12 regulation of cell size GO:0008361 9.69 RDX MSN EZR
13 cell motility GO:0048870 9.65 ITGB4 DST
14 T cell proliferation GO:0042098 9.64 MSN CD151
15 filopodium assembly GO:0046847 9.64 ITGA6 EZR
16 cell junction assembly GO:0034329 9.63 FERMT2 FBLIM1
17 microvillus assembly GO:0030033 9.63 RDX EZR
18 establishment of endothelial barrier GO:0061028 9.63 RDX MSN EZR
19 establishment of epithelial cell apical/basal polarity GO:0045198 9.62 MSN EZR
20 protein kinase A signaling GO:0010737 9.61 RDX EZR
21 amelogenesis GO:0097186 9.61 ITGB4 ITGA6
22 positive regulation of cellular protein catabolic process GO:1903364 9.61 RDX MSN EZR
23 renal system development GO:0072001 9.6 ITGB4 ITGA6
24 integrin activation GO:0033622 9.59 FERMT3 FERMT2
25 gland morphogenesis GO:0022612 9.58 MSN EZR
26 nail development GO:0035878 9.56 ITGB4 ITGA6
27 membrane to membrane docking GO:0022614 9.55 MSN EZR
28 positive regulation of early endosome to late endosome transport GO:2000643 9.54 RDX MSN EZR
29 positive regulation of protein localization to early endosome GO:1902966 9.5 RDX MSN EZR
30 regulation of organelle assembly GO:1902115 9.43 RDX MSN EZR
31 integrin-mediated signaling pathway GO:0007229 9.43 ITGB4 ITGA6 FERMT3 FERMT2 FERMT1 DST
32 hemidesmosome assembly GO:0031581 9.02 ITGB4 ITGA6 DST COL17A1 CD151

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

# Name GO ID Score Top Affiliating Genes
1 actin binding GO:0003779 9.62 RDX MSN EZR DST
2 protein kinase A binding GO:0051018 9.37 RDX EZR
3 insulin-like growth factor I binding GO:0031994 9.26 ITGB4 ITGA6
4 integrin binding GO:0005178 9.26 ITGB4 FERMT3 DST CD151
5 neuregulin binding GO:0038132 9.16 ITGB4 ITGA6
6 cytoskeletal protein binding GO:0008092 8.92 RDX MSN EZR DST
Sources

Sources for Kindler Syndrome

About this section
3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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