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KNDLRS
MCID: KND001
MIFTS: 58

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

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MalaCards integrated aliases for Kindler Syndrome:

Name: Kindler Syndrome 57 12 24 53 25 59 74 37 13 55 15
Poikiloderma of Kindler 12 75 53 25 59 44 72
Congenital Bullous Poikiloderma 24 53 25 59
Kindler's Syndrome 25 29 6 40
Bullous Acrokeratotic Poikiloderma of Kindler and Weary 57 53 74
Poikiloderma, Congenital, with Bullae, Weary Type 57 53
Poikiloderma Congenital with Bullae Weary Type 75 74
Poikiloderma, Hereditary Acrokeratotic 57 53
Kndlrs 57 74
Hereditary Acrokeratotic Poikiloderma of Kindler-Weary 12
Hereditary Acrokeratotic Poikiloderma 59
Poikiloderma Hereditary Acrokeratotic 74
Potassium Deficiency 72
Weary Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
kindler syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

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:

MalaCards categories:
Global: Genetic diseases Rare diseases
Anatomical: Skin diseases
See all MalaCards categories (disease lists)
ICD10: 34
Orphanet: 59  
Rare skin diseases


External Ids:

Disease Ontology 12 DOID:0060472
OMIM 57 173650
KEGG 37 H00588
MESH via Orphanet 45 C536321
ICD10 via Orphanet 34 Q81.8 Q82.8
UMLS via Orphanet 73 C0406556 C0406557
UMLS 72 C0032827 C0406557
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 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. The drugs Hydrochlorothiazide and Licorice 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 : 53 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 : 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)

KEGG : 37
Kinder syndrome is a rare autosomal recessive disease characterized by blister, poikiloderma, skin atrophy, and photosensitivity.

UniProtKB/Swiss-Prot : 74 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 : 75 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 95)
# Related Disease Score Top Affiliating Genes
1 epidermolysis bullosa 31.4 ITGB4 DST COL7A1 COL17A1
2 skin atrophy 31.2 FERMT1 FBLIM1
3 epidermolysis bullosa dystrophica 30.1 DST COL7A1
4 epidermolysis bullosa simplex 29.4 ITGB4 DST COL17A1
5 junctional epidermolysis bullosa 29.2 ITGB4 DST COL17A1
6 skin disease 29.2 ITGB4 DST COL7A1 COL17A1
7 bullous pemphigoid 29.2 ITGB4 DST COL17A1
8 erythrokeratoderma ''en cocardes'' 10.6
9 autosomal recessive disease 10.5
10 periodontitis 10.4
11 ectropion 10.3
12 skin carcinoma 10.3
13 keratosis 10.3
14 squamous cell carcinoma 10.3
15 gingivitis 10.3
16 rare genetic skin disease 10.3
17 leukocyte adhesion deficiency, type i 10.2 FERMT3 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 pyloric atresia 10.1 ITGB4 COL17A1
28 bullous skin disease 10.1 DST COL17A1
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 10.1 DST COL17A1
35 pemphigoid gestationis 10.0 DST COL17A1
36 epidermolysis bullosa simplex with muscular dystrophy 10.0 DST COL17A1
37 autoimmune disease of skin and connective tissue 10.0 DST COL17A1
38 lichen disease 10.0 DST COL17A1
39 ankyloglossia with or without tooth anomalies 9.9
40 autoimmune disease 9.9
41 adermatoglyphia 9.9
42 keratitis, hereditary 9.9
43 bloom syndrome 9.9
44 rothmund-thomson syndrome 9.9
45 xeroderma pigmentosum, variant type 9.9
46 yemenite deaf-blind hypopigmentation syndrome 9.9
47 cholangitis, primary sclerosing 9.9
48 deficiency anemia 9.9
49 colitis 9.9
50 corneal disease 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:

59 32 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ichthyosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0008064
2 palmoplantar keratoderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0000982
3 abnormal blistering of the skin 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0008066
4 cutaneous photosensitivity 59 32 hallmark (90%) Very frequent (99-80%) HP:0000992
5 erythema 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0010783
6 telangiectasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0100585
7 papule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200034
8 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
9 gingivitis 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0000230
10 urticaria 59 32 hallmark (90%) Very frequent (99-80%) HP:0001025
11 hypopigmented skin patches 59 32 hallmark (90%) Very frequent (99-80%) HP:0001053
12 cheilitis 59 32 hallmark (90%) Very frequent (99-80%) HP:0100825
13 aplasia/hypoplasia of the skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0008065
14 irregular hyperpigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007400
15 eczema 59 32 hallmark (90%) Very frequent (99-80%) HP:0000964
16 dystrophic toenail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001810
17 dystrophic fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0008391
18 pustule 59 32 hallmark (90%) Very frequent (99-80%) HP:0200039
19 poikiloderma 59 32 hallmark (90%) Very frequent (99-80%) HP:0001029
20 premature loss of primary teeth 59 32 hallmark (90%) Very frequent (99-80%),Frequent (79-30%) HP:0006323
21 finger syndactyly 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0006101
22 dysphagia 59 32 frequent (33%) Frequent (79-30%) HP:0002015
23 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
24 skin ulcer 59 32 frequent (33%) Frequent (79-30%) HP:0200042
25 narrow mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000160
26 xerostomia 59 32 frequent (33%) Frequent (79-30%) HP:0000217
27 gingival bleeding 59 32 frequent (33%) Frequent (79-30%) HP:0000225
28 abnormality of skin pigmentation 59 32 frequent (33%) Frequent (79-30%) HP:0001000
29 abnormality of dental enamel 59 32 frequent (33%) Frequent (79-30%) HP:0000682
30 turricephaly 59 32 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000262
31 periodontitis 59 32 frequent (33%) Frequent (79-30%) HP:0000704
32 esophagitis 59 32 frequent (33%) Frequent (79-30%) HP:0100633
33 camptodactyly of finger 59 32 occasional (7.5%) Occasional (29-5%),Frequent (79-30%) HP:0100490
34 abnormal pigmentation of the oral mucosa 59 32 frequent (33%) Frequent (79-30%) HP:0100669
35 abnormal toenail morphology 59 32 frequent (33%) Frequent (79-30%) HP:0008388
36 recurrent skin infections 59 32 frequent (33%) Frequent (79-30%) HP:0001581
37 oral leukoplakia 59 32 frequent (33%) Frequent (79-30%) HP:0002745
38 abnormality of the preputium 59 32 frequent (33%) Frequent (79-30%) HP:0100587
39 palmoplantar hyperkeratosis 59 32 frequent (33%) Frequent (79-30%) HP:0000972
40 ankyloglossia 59 32 frequent (33%) Frequent (79-30%) HP:0010296
41 colitis 59 32 frequent (33%) Frequent (79-30%) HP:0002583
42 esophageal stricture 59 32 frequent (33%) Frequent (79-30%) HP:0002043
43 phimosis 59 32 frequent (33%) Frequent (79-30%) HP:0001741
44 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
45 corneal opacity 59 32 occasional (7.5%) Occasional (29-5%) HP:0007957
46 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
47 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
48 anemia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001903
49 opacification of the corneal stroma 59 32 occasional (7.5%) Occasional (29-5%) HP:0007759
50 joint hyperflexibility 59 32 occasional (7.5%) Occasional (29-5%) HP:0005692

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:
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
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 112)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
2
Licorice Approved Phase 4
3
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
4
Mifepristone Approved, Investigational Phase 4 84371-65-3 55245
5 Antihypertensive Agents Phase 4
6 Sodium Chloride Symporter Inhibitors Phase 4
7 Ophthalmic Solutions Phase 4
8 Pharmaceutical Solutions Phase 4
9 Plasma-lyte 148 Phase 4
10 diuretics Phase 4
11 Natriuretic Agents Phase 4
12 Hormones Phase 4
13 Diuretics, Potassium Sparing Phase 4
14 Mineralocorticoid Receptor Antagonists Phase 4
15 Mineralocorticoids Phase 4
16 Hormone Antagonists Phase 4
17 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 4
18
tannic acid Approved Phase 2 1401-55-4
19
Benzocaine Approved, Investigational Phase 2 94-09-7, 1994-09-7 2337
20 Cicletanine Investigational Phase 1, Phase 2 89943-82-8
21 Anti-Arrhythmia Agents Phase 1, Phase 2
22 insulin Phase 2
23 Insulin, Globin Zinc Phase 2
24 Hypoglycemic Agents Phase 2
25 Grape Approved Phase 1
26 Potassium Supplement Phase 1
27
Fentanyl Approved, Illicit, Investigational, Vet_approved 437-38-7 3345
28
Dexmedetomidine Approved, Vet_approved 113775-47-6 68602 5311068
29
Remifentanil Approved 132875-61-7 60815
30
Sodium citrate Approved, Investigational 68-04-2
31
Potassium Citrate Approved, Investigational, Vet_approved
32
Spironolactone Approved 1952-01-7, 52-01-7 5833
33
Ciprofloxacin Approved, Investigational 85721-33-1 2764
34
Prednisolone phosphate Approved, Vet_approved 302-25-0
35
Oxycodone Approved, Illicit, Investigational 76-42-6 5284603
36
Fosfomycin Approved 23155-02-4 446987
37
Alfentanil Approved, Illicit 71195-58-9 51263
38
Methylprednisolone Approved, Vet_approved 83-43-2 6741
39
Tazobactam Approved 89786-04-9 123630
40
Cidofovir Approved 113852-37-2 60613
41
Tranexamic Acid Approved 1197-18-8 5526
42
Molindone Approved 7416-34-4 23897
43
Cefepime Approved, Investigational 88040-23-7 5479537
44
Methylprednisolone hemisuccinate Approved 2921-57-5
45
Nifedipine Approved 21829-25-4 4485
46
Sevelamer Approved 52757-95-6
47
Aminocaproic acid Approved, Investigational 60-32-2 564
48
Amikacin Approved, Investigational, Vet_approved 37517-28-5 37768
49
Clozapine Approved 5786-21-0 2818
50
Piperacillin Approved 66258-76-2 43672

Interventional clinical trials:

(show all 17)
# 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 Effect of Licorice and Hydrochlorothiazide on Plasma Potassium Completed NCT00605202 Phase 4 Hydrochlorothiazide
4 Fluid Therapy in Acutely Ill Children - a Randomized Controlled Trial Completed NCT02926989 Phase 4 Plasmalyte Glucos 50 mg/mL;0.45% saline in 5% dextrose
5 Monocentric STUDY, Randomised Double Blinded (Healthy Subjects, or Transversal (Patients With Gitelman Syndrome) Completed NCT02297048 Phase 4
6 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
7 The Impact of 4% Sodium Bicarbonate Additive During Potassium Chloride Replacement on Pain and Incidence of Phlebitis for Adult Patients in a Medical Surgical Unit: A Randomized Double Blinded Controlled Study Enrolling by invitation NCT02082717 Phase 4 potassium chloride replacement;Experimental - 4% Sodium Bicarbonate
8 Arrhythmia Prevention in High Risk Cardiovascular Patients Using Targeted Potassium Levels Not yet recruiting NCT03833089 Phase 4
9 Cicletanine in Hypertension With Diabetes: Added Magnesium Preserves Potassium and Sodium Unknown status NCT02709031 Phase 1, Phase 2 Cicletanine + magnesium;Cicletanine
10 The Effects of Potassium on Glucose Metabolism in African Americans Completed NCT02236598 Phase 2 K+ supplement;Placebo
11 Pilot Study of Potassium Supplementation in the Treatment of Rheumatoid Arthritis: a 4-Week, Randomized, Double-Blind, Placebo-Controlled Trial Completed NCT00461448 Phase 1
12 Hypokalemia in Hospitalized Patients for Heart Failure in the Therapeutic Cardiac Failure Unit: Morbidity-mortality Impact Completed NCT03405051
13 Spironolactone to Decrease Potassium Wasting in Hypercalciuric Patients Treated With Thiazide Diuretics Completed NCT00276289 Spironolactone
14 Hypokalemia and Intravenous Patient Controlled Analgesia Completed NCT01269099 IV-PCA;Control
15 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
16 Renoprotective Effects of Potassium Supplementation in Chronic Kidney Disease (CKD) Recruiting NCT03253172
17 Pharmacokinetics of Understudied Drugs Administered to Children Per Standard of Care Recruiting NCT01431326 The POPS study is collecting PK data on children prescribed the following drugs of interest per standard of care:

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:

41
Skin, Eye, Colon, Bone, Heart, Kidney, Breast
Sources

Publications for Kindler Syndrome

About this section

Articles related to Kindler Syndrome:

(show top 50) (show all 205)
# 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. 9 38 4 8 71
12789646 2003
2
Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome. 38 4 8 71
12668616 2003
3
Immunohistochemical, ultrastructural, and molecular features of Kindler syndrome distinguish it from dystrophic epidermolysis bullosa. 38 4 8
9301588 1997
4
[Bullous and hereditary Weary-Kindler's acrokeratotic poikiloderma (author's transl)]. 4 8
7015974 1981
5
Hereditary acrokeratotic poikiloderma. 4 8
4253719 1971
6
Congenital poikiloderma with traumatic bulla formation and progressive cutaneous atrophy. 4 8
13149722 1954
7
Kindler Syndrome 38 71
26937547 2016
8
Induction of phenotype modifying cytokines by FERMT1 mutations. 38 8
21309038 2011
9
Kindlins: essential regulators of integrin signalling and cell-matrix adhesion. 9 38 4
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. 9 38 4
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. 9 38 4
14962093 2004
12
Kindler syndrome in a Saudi kindred. 38 8
12472544 2002
13
A Japanese case of Kindler syndrome. 38 8
10809978 2000
14
Kindler syndrome. Clinical and ultrastructural findings. 38 8
8961879 1996
15
Early-onset periodontitis associated with Weary-Kindler syndrome: a case report. 38 8
8910840 1996
16
Kindler syndrome in two related Kurdish families. 38 8
3970073 1985
17
Single Amino Acid Deletion in Kindlin-1 Results in Partial Protein Degradation Which Can Be Rescued by Chaperone Treatment. 38 4
26827766 2016
18
A novel large deletion mutation of FERMT1 gene in a Chinese patient with Kindler syndrome. 38 4
26537214 2015
19
A Deep-Intronic FERMT1 Mutation Causes Kindler Syndrome: An Explanation for Genetically Unsolved Cases. 38 4
26083552 2015
20
Using immunofluorescence (antigen) mapping in the diagnosis and classification of epidermolysis bullosa: a first report from Iran. 38 4
26220012 2015
21
FERMT1 promoter mutations in patients with Kindler syndrome. 38 4
25156791 2015
22
The Kindler syndrome: a spectrum of FERMT1 mutations in Iranian families. 38 4
25599393 2015
23
New intragenic and promoter region deletion mutations in FERMT1 underscore genetic homogeneity in Kindler syndrome. 38 4
24635080 2014
24
Induction of senescence pathways in Kindler syndrome primary keratinocytes. 38 4
23278235 2013
25
Corneal erosion and Kindler syndrome. 38 4
23241824 2013
26
Founder mutation c.676insC in three unrelated Kindler syndrome families belonging to a particular clan from Pakistan. 38 4
22220914 2012
27
Kindler syndrome: extension of FERMT1 mutational spectrum and natural history. 38 4
21936020 2011
28
Kindler syndrome causing severe cicatricial ectropion. 38 4
20592640 2010
29
Mild clinical phenotype of Kindler syndrome associated with late diagnosis and skin cancer. 38 4
20938162 2010
30
Kindler syndrome. 38 4
19945624 2010
31
A novel 3017-bp deletion mutation in the FERMT1 (KIND1) gene in a Chinese family with Kindler syndrome. 38 4
19292718 2009
32
Kindler syndrome: a focal adhesion genodermatosis. 38 4
19120339 2009
33
A novel large FERMT1 (KIND1) gene deletion in Kindler syndrome. 38 4
18835760 2008
34
Novel and recurrent KIND1 mutations in two patients with Kindler syndrome and severe mucosal involvement. 38 4
17989907 2007
35
Pregnancy and delivery with Kindler syndrome. 38 4
17284921 2007
36
Novel KIND1 gene mutation in Kindler syndrome with severe gastrointestinal tract involvement. 38 4
17178989 2006
37
Aggressive squamous cell carcinoma in Kindler syndrome. 38 4
17086002 2006
38
Kindler syndrome in native Americans from Panama: report of 26 cases. 38 4
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. 38 4
11422071 2001
40
[Poikiloderma congenitale with bullae, of the Weary type]. 8
7015975 1981
41
Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. 4
24690439 2014
42
Hereditary sclerosing poikiloderma. 4
22323875 2012
43
The role of kindlins in cell biology and relevance to human disease. 9 38
19854292 2010
44
Kindler syndrome pathogenesis and fermitin family homologue 1 (kindlin-1) function. 9 38
19945623 2010
45
Loss-of-function FERMT1 mutations in kindler syndrome implicate a role for fermitin family homolog-1 in integrin activation. 9 38
19762710 2009
46
Localization and potential function of kindlin-1 in periodontal tissues. 9 38
19758247 2009
47
Kindlin-1 Is required for RhoGTPase-mediated lamellipodia formation in keratinocytes. 9 38
19762715 2009
48
Colocalization of kindlin-1, kindlin-2, and migfilin at keratinocyte focal adhesion and relevance to the pathophysiology of Kindler syndrome. 9 38
18528435 2008
49
The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB. 4
18374450 2008
50
Kindlin-3 is essential for integrin activation and platelet aggregation. 4
18278053 2008
Sources

Variations for Kindler Syndrome

About this section

ClinVar genetic disease variations for Kindler Syndrome:

6 (show top 50) (show all 135)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 FERMT1 NM_017671.4(FERMT1): c.676dup (p.Gln226fs) duplication Pathogenic rs748240859 20:6091015-6091015 20:6110368-6110368
2 FERMT1 FERMT1, IVS3DS, T-C, +2 single nucleotide variant Pathogenic
3 FERMT1 NM_017671.4(FERMT1): c.787C> T (p.Gln263Ter) single nucleotide variant Pathogenic rs121918292 20:6088241-6088241 20:6107594-6107594
4 FERMT1 NM_017671.4(FERMT1): c.1714_1715insA (p.Val572fs) insertion Pathogenic 20:6064690-6064691 20:6084043-6084044
5 FERMT1 NM_017671.4(FERMT1): c.464del (p.Asn155fs) deletion Pathogenic 20:6093192-6093192 20:6112545-6112545
6 FERMT1 NM_017671.4(FERMT1): c.811C> T (p.Arg271Ter) single nucleotide variant Pathogenic rs121918293 20:6088217-6088217 20:6107570-6107570
7 FERMT1 NM_017671.4(FERMT1): c.862C> T (p.Arg288Ter) single nucleotide variant Pathogenic rs121918294 20:6078266-6078266 20:6097619-6097619
8 FERMT1 NM_017671.4(FERMT1): c.1867_1869del (p.Ile623del) deletion Pathogenic rs869312721 20:6057985-6057987 20:6077338-6077340
9 FERMT1 NM_017671.4(FERMT1): c.1848G> A (p.Trp616Ter) single nucleotide variant Pathogenic rs869312731 20:6060095-6060095 20:6079448-6079448
10 FERMT1 NM_017671.4(FERMT1): c.1675T> C (p.Trp559Arg) single nucleotide variant Pathogenic rs869312719 20:6064730-6064730 20:6084083-6084083
11 FERMT1 NM_017671.4(FERMT1): c.1383C> A (p.Tyr461Ter) single nucleotide variant Pathogenic rs142328166 20:6065923-6065923 20:6085276-6085276
12 FERMT1 NM_017671.4(FERMT1): c.1198T> C (p.Ser400Pro) single nucleotide variant Pathogenic rs869312718 20:6069678-6069678 20:6089031-6089031
13 FERMT1 NM_017671.4(FERMT1): c.1176T> G (p.Tyr392Ter) single nucleotide variant Pathogenic rs869312730 20:6069700-6069700 20:6089053-6089053
14 FERMT1 NM_017671.4(FERMT1): c.1161del (p.Ala388fs) deletion Pathogenic rs869312729 20:6069715-6069715 20:6089068-6089068
15 FERMT1 NM_017671.4(FERMT1): c.1139+740G> A single nucleotide variant Pathogenic rs869312728 20:6074846-6074846 20:6094199-6094199
16 FERMT1 NM_017671.4(FERMT1): c.1139+2T> C single nucleotide variant Pathogenic rs869312727 20:6075584-6075584 20:6094937-6094937
17 FERMT1 NM_017671.4(FERMT1): c.992_993CA[1] (p.Gln332fs) short repeat Pathogenic rs866141540 20:6077643-6077644 20:6096996-6096997
18 FERMT1 NM_017671.4(FERMT1): c.958-1G> A single nucleotide variant Pathogenic rs869312726 20:6077681-6077681 20:6097034-6097034
19 FERMT1 NM_017671.4(FERMT1): c.957+1G> A single nucleotide variant Pathogenic rs869312725 20:6078170-6078170 20:6097523-6097523
20 FERMT1 NM_017671.4(FERMT1): c.910G> T (p.Glu304Ter) single nucleotide variant Pathogenic rs146180696 20:6078218-6078218 20:6097571-6097571
21 FERMT1 NM_017671.4(FERMT1): c.889A> G (p.Arg297Gly) single nucleotide variant Pathogenic rs779612399 20:6078239-6078239 20:6097592-6097592
22 FERMT1 NM_017671.4(FERMT1): c.550dup (p.Ser184fs) duplication Pathogenic rs869312724 20:6091141-6091141 20:6110494-6110494
23 FERMT1 NM_017671.4(FERMT1): c.373del (p.Cys125fs) deletion Pathogenic rs869312723 20:6096470-6096470 20:6115823-6115823
24 FERMT1 NM_017671.4(FERMT1): c.299_301del (p.Arg100del) deletion Pathogenic rs869312720 20:6096542-6096544 20:6115895-6115897
25 FERMT1 NM_017671.4(FERMT1): c.-20A> G single nucleotide variant Pathogenic rs869312722 20:6103422-6103422 20:6122775-6122775
26 FERMT1 NM_017671.4: c.676insC insertion Pathogenic
27 FERMT1 NM_017671.4(FERMT1): c.0_-19+470del deletion Pathogenic 20:6102951-6104903 20:6122304-6124256
28 FERMT1 NM_017671.4(FERMT1): c.850-272_1139+53del deletion Pathogenic 20:6075533-6078550 20:6094886-6097903
29 FERMT1 g.6116239_6120157del undetermined variant Pathogenic
30 FERMT1 g.6109607_6112272del undetermined variant Pathogenic
31 FERMT1 NM_017671.4(FERMT1): c.*2204T> C single nucleotide variant Uncertain significance rs369543395 20:6055616-6055616 20:6074969-6074969
32 FERMT1 NM_017671.4(FERMT1): c.*2127dup duplication Uncertain significance rs139990090 20:6055693-6055693 20:6075046-6075046
33 FERMT1 NM_017671.4(FERMT1): c.*2124_*2125del deletion Uncertain significance rs886056892 20:6055695-6055696 20:6075048-6075049
34 FERMT1 NM_017671.4(FERMT1): c.*1472G> A single nucleotide variant Uncertain significance rs41282954 20:6056348-6056348 20:6075701-6075701
35 FERMT1 NM_017671.4(FERMT1): c.*1035C> T single nucleotide variant Uncertain significance rs578179571 20:6056785-6056785 20:6076138-6076138
36 FERMT1 NM_017671.4(FERMT1): c.*932C> T single nucleotide variant Uncertain significance rs781104279 20:6056888-6056888 20:6076241-6076241
37 FERMT1 NM_017671.4(FERMT1): c.*896G> C single nucleotide variant Uncertain significance rs886056897 20:6056924-6056924 20:6076277-6076277
38 FERMT1 NM_017671.4(FERMT1): c.*438C> T single nucleotide variant Uncertain significance rs576410071 20:6057382-6057382 20:6076735-6076735
39 FERMT1 NM_017671.4(FERMT1): c.*251C> G single nucleotide variant Uncertain significance rs368493929 20:6057569-6057569 20:6076922-6076922
40 FERMT1 NM_017671.4(FERMT1): c.1861-8T> C single nucleotide variant Uncertain significance rs2232082 20:6058001-6058001 20:6077354-6077354
41 FERMT1 NM_017671.4(FERMT1): c.1594-6G> A single nucleotide variant Uncertain significance rs6053893 20:6064817-6064817 20:6084170-6084170
42 FERMT1 NM_017671.4(FERMT1): c.1575_1577delinsGAA (p.Arg526Lys) indel Uncertain significance rs386812146 20:6065729-6065731 20:6085082-6085084
43 FERMT1 NM_017671.4(FERMT1): c.1014C> T (p.Ser338=) single nucleotide variant Uncertain significance rs138986656 20:6077624-6077624 20:6096977-6096977
44 FERMT1 NM_017671.4(FERMT1): c.606_608del (p.Met203del) deletion Uncertain significance rs150175364 20:6091083-6091085 20:6110436-6110438
45 FERMT1 NM_017671.4(FERMT1): c.240T> C (p.Tyr80=) single nucleotide variant Uncertain significance rs550863008 20:6096603-6096603 20:6115956-6115956
46 FERMT1 NM_017671.4(FERMT1): c.-116A> G single nucleotide variant Uncertain significance rs886056900 20:6103518-6103518 20:6122871-6122871
47 FERMT1 NM_017671.4(FERMT1): c.-136C> T single nucleotide variant Uncertain significance rs112748672 20:6103538-6103538 20:6122891-6122891
48 FERMT1 NM_017671.4(FERMT1): c.-154_-152GCC[2] short repeat Uncertain significance rs536347157 20:6103548-6103550 20:6122901-6122903
49 FERMT1 NM_017671.4(FERMT1): c.-189C> A single nucleotide variant Uncertain significance rs533749473 20:6103591-6103591 20:6122944-6122944
50 FERMT1 NM_017671.4(FERMT1): c.-609G> A single nucleotide variant Uncertain significance rs184246100 20:6104011-6104011 20:6123364-6123364

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

74
# 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 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
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:

# Super pathways Score Top Affiliating Genes
1
Collagen chain trimerization 66
Show member pathways
 12.28 ITGB4 DST COL7A1 COL17A1
2
Degradation of the extracellular matrix 66
Show member pathways
 12.11 ITGB4 DST COL7A1 COL17A1
3
G-protein signaling Regulation of p38 and JNK signaling mediated by G-proteins 22
Show member pathways
 11.77 RDX ITGB4 COL7A1 COL17A1
4
Cell junction organization 66
Show member pathways
 11.54 ITGB4 FBLIM1 DST COL17A1
5
Adhesion 4
11.22 ITGB4 FERMT3 FERMT1
6
a6b1 and a6b4 Integrin signaling 1
10.9 ITGB4 COL17A1
7
G-protein signaling_Rap2B regulation pathway 22
10.53 RDX ITGB4 COL7A1 COL17A1
Sources

GO Terms for Kindler Syndrome

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

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.73 RDX FERMT1 FBLIM1 DST
2 cell projection GO:0042995 9.67 RDX FERMT3 FERMT1 DST
3 focal adhesion GO:0005925 9.55 RDX ITGB4 FERMT1 FBLIM1 DST
4 basement membrane GO:0005604 9.43 DST COL7A1 COL17A1
5 cell junction GO:0030054 9.43 ITGB4 FERMT3 FERMT1 FBLIM1 DST COL17A1
6 collagen trimer GO:0005581 9.4 COL7A1 COL17A1
7 cell leading edge GO:0031252 9.32 ITGB4 DST
8 hemidesmosome GO:0030056 8.8 ITGB4 DST COL17A1

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

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix organization GO:0030198 9.5 ITGB4 COL7A1 COL17A1
2 integrin-mediated signaling pathway GO:0007229 9.46 ITGB4 FERMT3 FERMT1 DST
3 cell-matrix adhesion GO:0007160 9.4 ITGB4 COL17A1
4 response to wounding GO:0009611 9.37 ITGB4 DST
5 cell motility GO:0048870 9.26 ITGB4 DST
6 hemidesmosome assembly GO:0031581 9.13 ITGB4 DST COL17A1
7 cell adhesion GO:0007155 9.1 ITGB4 FERMT3 FERMT1 FBLIM1 DST COL7A1

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 9.16 RDX DST
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.96 COL7A1 COL17A1
3 integrin binding GO:0005178 8.8 ITGB4 FERMT3 DST
Sources

Sources for Kindler Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 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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