MCID: KDS001
MIFTS: 57

Kid Syndrome

Categories: Rare diseases, Genetic diseases, Eye diseases, Ear diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Kid Syndrome

MalaCards integrated aliases for Kid Syndrome:

Name: Kid Syndrome 50 56
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 50 24 29
Senter Syndrome 50 56 69
Keratitis-Ichthyosis-Deafness/hystrix-Like Ichthyosis-Deafness Syndrome 50 56
Kid Syndrome, Autosomal Dominant 50 24
Kid/hid Syndrome 50 56
Keratitis, Ichthyosis, and Deafness Syndrome 50
Keratitis-Ichthyosis-Deafness Syndrome 69

Characteristics:

Orphanet epidemiological data:

56
kid syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: any age;

Classifications:



Summaries for Kid Syndrome

NIH Rare Diseases : 50 keratitis-ichthyosis-deafness (kid) syndrome is a rare disorder that causes skin abnormalities, eye problems, and hearing loss. skin abnormalities include thick, hard skin on the underside of the hands and feet (palmoplantar keratoderma); thick, red patches of skin (erythrokeratoderma); and dry, scaly skin (ichthyosis). eye problems are caused by keratitis (inflammation of the cornea) which can lead to pain; sensitivity to light; extra blood vessel growth; scarring; and eventual vision loss or blindness. kid syndrome is caused by mutations in the gjb2 gene. most cases are sporadic but familial cases with autosomal dominant inheritance have been reported. treatment focuses on the specific symptoms present. last updated: 12/12/2016

MalaCards based summary : Kid Syndrome, also known as keratitis-ichthyosis-deafness syndrome, autosomal dominant, is related to keratitis-ichthyosis-deafness syndrome and ichthyosiform erythroderma, corneal involvement, deafness, and has symptoms including cryptorchidism, furrowed tongue and sensorineural hearing impairment. An important gene associated with Kid Syndrome is GJB2 (Gap Junction Protein Beta 2), and among its related pathways/superpathways are Vesicle-mediated transport and Myometrial Relaxation and Contraction Pathways. The drugs Methylprednisolone and Mycophenolate mofetil have been mentioned in the context of this disorder. Affiliated tissues include bone, bone marrow and lung, and related phenotype is no phenotypic analysis.

Related Diseases for Kid Syndrome

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

(show top 50) (show all 54)
id Related Disease Score Top Affiliating Genes
1 keratitis-ichthyosis-deafness syndrome 11.6
2 ichthyosiform erythroderma, corneal involvement, deafness 10.8
3 ichthyosis histrix, curth-macklin type 10.8
4 hystrix-like ichthyosis with deafness 10.8
5 ichthyosis follicularis atrichia photophobia syndrome 10.8
6 keratitis 10.4
7 ichthyosis 10.4
8 myocardial infarction 2 10.0 GJB2 GJB6
9 myopia 22, autosomal dominant 10.0 GJB2 GJB6
10 congenital disorder of glycosylation with developmental anomaly 10.0 GJB2 GJB6
11 psoriatic arthritis 10.0 GJB2 GJB3
12 diabetes persistent mullerian ducts 10.0 GJB2 GJB6
13 keratoderma, palmoplantar, with deafness 9.9 GJB2 GJB6
14 nonsyndromic hydrocephalus, ccdc88c-related 9.9 GJB2 GJB6
15 candidiasis 9.9
16 microcephaly and chorioretinopathy, autosomal recessive, 3 9.8 GJB2 GJB6
17 deafness, autosomal dominant 2a 9.8 GJB2 GJB6
18 ausems wittebol-post hennekam syndrome 9.7 GJB2 GJB6
19 cutaneous candidiasis 9.7
20 corneal disease 9.7
21 keratosis 9.7
22 squamous cell carcinoma 9.7
23 cerebral artery occlusion 9.7 GJB2 GJB6
24 carotid artery disease 9.7 GJB2 GJB3
25 syndactyly, type iii 9.7 GJB2 GJB4
26 deafness, autosomal dominant 3a 9.6 GJB2 GJB3 GJB6
27 cerebellar hypoplasia 9.6
28 ectodermal dysplasia 9.6
29 hepatitis 9.6
30 sensorineural hearing loss 9.6
31 corneal neovascularization 9.6
32 ventricular septal defect 9.6
33 chronic mucocutaneous candidiasis 9.6
34 lactic acidosis 9.6
35 arthropathy 9.6
36 dermatophytosis 9.6
37 fascioliasis 9.6 GJB2 GJB3 GJB6
38 viral laryngitis 9.5 GJB2 GJB3 GJB6
39 nodular lichen myxedematosus 9.5 GJB2 GJB3 GJB6
40 narcissistic personality disorder 9.5 GJB2 GJB3 GJB6
41 mixed lacrimal gland cancer 9.5 GJB2 GJB3 GJB6
42 deafness, autosomal recessive 9.5 GJB2 GJB3
43 dihydrolipoamide dehydrogenase deficiency 9.5 GJB2 GJB3 GJB6
44 discrete papular lichen myxedematosus 9.5 GJB2 GJB3 GJB6
45 endometritis 9.5 GJB2 GJB3 GJB6
46 autosomal recessive nonsyndromic deafness 9.5 GJB2 GJB3 GJB6
47 transient neonatal multiple acyl-coa dehydrogenase deficiency 9.4 GJB2 GJB3 GJB4
48 spastic paraplegia 50, autosomal recessive 9.3 GJB2 GJB3 GJB4
49 troyer syndrome 9.2 GJB2 GJB4 GJB6
50 kikuchi disease 8.8 GJB2 GJB3 GJB4 GJB6

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



Diseases related to Kid Syndrome

Symptoms & Phenotypes for Kid Syndrome

Human phenotypes related to Kid Syndrome:

56 32 (show all 46)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 56 32 occasional (7.5%) Occasional (29-5%) HP:0000028
2 furrowed tongue 56 32 frequent (33%) Frequent (79-30%) HP:0000221
3 sensorineural hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000407
4 keratitis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000491
5 abnormality of the eyelashes 56 32 hallmark (90%) Very frequent (99-80%) HP:0000499
6 visual impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000505
7 progressive visual loss 56 32 occasional (7.5%) Occasional (29-5%) HP:0000529
8 photophobia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000613
9 carious teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000670
10 delayed eruption of teeth 56 32 occasional (7.5%) Occasional (29-5%) HP:0000684
11 hypohidrosis 56 32 frequent (33%) Frequent (79-30%) HP:0000966
12 palmoplantar keratoderma 56 32 frequent (33%) Frequent (79-30%) HP:0000982
13 urticaria 56 32 occasional (7.5%) Occasional (29-5%) HP:0001025
14 intellectual disability 56 32 occasional (7.5%) Occasional (29-5%) HP:0001249
15 reduced tendon reflexes 56 32 occasional (7.5%) Occasional (29-5%) HP:0001315
16 cerebellar hypoplasia 56 32 occasional (7.5%) Occasional (29-5%) HP:0001321
17 arthritis 56 32 occasional (7.5%) Occasional (29-5%) HP:0001369
18 alopecia 56 32 frequent (33%) Frequent (79-30%) HP:0001596
19 hypoplastic toenails 56 32 frequent (33%) Frequent (79-30%) HP:0001800
20 hypoplastic fingernail 56 32 frequent (33%) Frequent (79-30%) HP:0001804
21 dystrophic toenail 56 32 frequent (33%) Frequent (79-30%) HP:0001810
22 fine hair 56 32 frequent (33%) Frequent (79-30%) HP:0002213
23 aganglionic megacolon 56 32 occasional (7.5%) Occasional (29-5%) HP:0002251
24 oral leukoplakia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002745
25 delayed skeletal maturation 56 32 occasional (7.5%) Occasional (29-5%) HP:0002750
26 osteolysis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002797
27 short stature 56 32 occasional (7.5%) Occasional (29-5%) HP:0004322
28 hemiplegia/hemiparesis 56 32 occasional (7.5%) Occasional (29-5%) HP:0004374
29 recurrent bacterial skin infections 56 32 hallmark (90%) Very frequent (99-80%) HP:0005406
30 generalized hyperkeratosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0005595
31 squamous cell carcinoma of the skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0006739
32 ichthyosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0008064
33 sparse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0008070
34 dystrophic fingernails 56 32 frequent (33%) Frequent (79-30%) HP:0008391
35 erythema 56 32 hallmark (90%) Very frequent (99-80%) HP:0010783
36 severe global developmental delay 56 32 occasional (7.5%) Occasional (29-5%) HP:0011344
37 corneal neovascularization 56 32 hallmark (90%) Very frequent (99-80%) HP:0011496
38 macule 56 32 hallmark (90%) Very frequent (99-80%) HP:0012733
39 aplasia/hypoplasia of the eyebrow 56 32 hallmark (90%) Very frequent (99-80%) HP:0100840
40 corneal erosion 56 32 occasional (7.5%) Occasional (29-5%) HP:0200020
41 skin ulcer 56 32 hallmark (90%) Very frequent (99-80%) HP:0200042
42 abnormality of the tongue 56 Frequent (79-30%)
43 abnormality of the teeth 56 Occasional (29-5%)
44 hearing impairment 56 Occasional (29-5%)
45 thickened skin 56 Occasional (29-5%)
46 neoplasm 56 Occasional (29-5%)

UMLS symptoms related to Kid Syndrome:


photophobia

MGI Mouse Phenotypes related to Kid Syndrome:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 no phenotypic analysis MP:0003012 8.8 GJB2 GJB3 GJB6

Drugs & Therapeutics for Kid Syndrome

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

(show top 50) (show all 1318)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylprednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 83-43-2 6741
2
Mycophenolate mofetil Approved, Investigational Phase 4,Phase 3,Phase 1,Phase 2 128794-94-5 5281078
3
Mycophenolic acid Approved Phase 4,Phase 3,Phase 1,Phase 2 24280-93-1 446541
4
Prednisolone Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-24-8 5755
5
Clonidine Approved Phase 4,Phase 3,Phase 2,Phase 1 4205-90-7 2803
6
Prednisone Approved, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1 53-03-2 5865
7
Aripiprazole Approved, Investigational Phase 4,Phase 3,Phase 2 129722-12-9 60795
8
Midazolam Approved, Illicit Phase 4,Phase 3,Phase 2 59467-70-8 4192
9
Propofol Approved, Investigational, Vet_approved Phase 4,Phase 3 2078-54-8 4943
10
Remifentanil Approved Phase 4,Phase 3 132875-61-7 60815
11
Dopamine Approved Phase 4,Phase 2,Phase 3,Phase 1 51-61-6, 62-31-7 681
12
Methylphenidate Approved, Investigational Phase 4,Phase 2 113-45-1 4158
13
Azacitidine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 320-67-2 9444
14
Decitabine Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1 2353-33-5 451668
15
Azathioprine Approved Phase 4,Phase 2,Phase 3,Phase 1 446-86-6 2265
16
Cyclophosphamide Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 50-18-0, 6055-19-2 2907
17
Valsartan Approved, Investigational Phase 4,Phase 2,Phase 1 137862-53-4 60846
18 Beractant Approved Phase 4,Phase 2,Phase 3,Phase 1 108778-82-1
19
Budesonide Approved Phase 4,Phase 3,Phase 1 51333-22-3 63006 5281004
20 Poractant alfa Approved Phase 4,Phase 2,Phase 3 129069-19-8
21
Metformin Approved Phase 4,Phase 3,Phase 2 657-24-9 14219 4091
22
Misoprostol Approved Phase 4 59122-46-2 5282381
23
Spironolactone Approved Phase 4,Phase 2,Phase 1 1952-01-7, 52-01-7 5833
24
Ramipril Approved Phase 4,Phase 3 87333-19-5 5362129
25
Moxonidine Approved Phase 4 75438-57-2 4810
26
Estradiol Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-28-2 5757
27
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
28
Fosaprepitant Approved Phase 4 172673-20-0 219090
29
Tacrolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 104987-11-3 445643 439492
30
Histamine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75614-87-8, 51-45-6 774
31
Morphine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 57-27-2 5288826
32
Montelukast Approved Phase 4,Phase 3,Phase 2 158966-92-8 5281040
33
Drospirenone Approved Phase 4,Phase 3 67392-87-4 68873
34
Ethinyl Estradiol Approved Phase 4,Phase 3,Phase 2 57-63-6 5991
35
Lopinavir Approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 192725-17-0 92727
36
Ritonavir Approved, Investigational Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 155213-67-5 392622
37
Dexamethasone Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 50-02-2 5743
38
Guaifenesin Approved, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 93-14-1 3516
39
Lamivudine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 134678-17-4 60825
40
Nevirapine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 129618-40-2 4463
41
Zidovudine Approved Phase 4,Phase 3,Phase 2,Phase 1,Early Phase 1 30516-87-1 35370
42
Ursodeoxycholic acid Approved, Investigational Phase 4,Phase 2 128-13-2 31401
43
Atropine Approved, Vet_approved Phase 4 5908-99-6, 51-55-8 174174
44
Atenolol Approved Phase 4,Phase 3,Phase 2 29122-68-7 2249
45
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
46
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 2,Phase 3,Phase 1,Early Phase 1 22916-47-8 4189
47
Valproic Acid Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 99-66-1 3121
48
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
49
Risperidone Approved, Investigational Phase 4,Phase 3,Phase 2 106266-06-2 5073
50
Cytarabine Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 147-94-4 6253

Interventional clinical trials:

(show top 50) (show all 5515)

id Name Status NCT ID Phase Drugs
1 Study of 7-valent Pneumococcal Conjugate Vaccine in Children With Idiopathic Nephrotic Syndrome Unknown status NCT01346007 Phase 4
2 Study of Clonidine on Sleep Architecture in Children With Tourette's Syndrome (TS) and Comorbid ADHD Unknown status NCT00152750 Phase 4 APO-clonidine
3 Long Term Tapering or Standard Steroids for Nephrotic Syndrome Unknown status NCT00308321 Phase 4 long term tapering of prednisolone;standard prednisolone treatment
4 Low Dose Steroids in the Treatment of Nephrotic Syndrome Relapse Unknown status NCT02216747 Phase 4 prednisone 60 mg/meter square Body Surface Area;prednisone 45 mg;prednisone 30 mg
5 Tolerance and Effect of Antipsychotics in Children and Adolescents With Psychosis Unknown status NCT01119014 Phase 4 Aripiprazole;Quetiapine
6 Propofol Versus Midazolam as Premedication for Preterm Neonates With Respiratory Distress Syndrome (RDS) Unknown status NCT00797160 Phase 4 propofol
7 Efficacy Evaluation of Surfactant Administration Via Laryngeal Mask Airway Unknown status NCT01173237 Phase 4
8 Early CPAP in Respiratory Distress Syndrome Unknown status NCT00368680 Phase 4
9 Event-related Potentials in Management of Children With Attention-deficit/Hyperactivity Disorder Unknown status NCT01130467 Phase 4 methylphenidate;Atomoxetine
10 Decitabine for Myelodysplastic Syndromes and Acute Myeloid Leukemia Before Allogeneic Hematopoietic Cell Transplantation Unknown status NCT01806116 Phase 4 decitabine
11 Effect of Vitamin D on Metabolic Parameters in Patients With the Metabolic Syndrome Unknown status NCT01237769 Phase 4 Vitamin D3
12 Vitamin D and Glucose Metabolism in Pediatrics Unknown status NCT01386736 Phase 4 Vitamin D drops;Placebo drops
13 CHUSPAN SCS BP Treatment of Churg–Strauss Syndrome Without Poor-Prognosis Factors Unknown status NCT00399399 Phase 4 azathioprine;cyclophosphamide
14 Efficacy Study of Pentosan Polysulfate Sodium,Hydrodistension and Combination Therapy for Bladder Pain Syndrome Unknown status NCT01895153 Phase 4
15 Two Strategies of RDS Treatment in Newborns With Birth Weight > 1500 Grams Unknown status NCT00277030 Phase 4 Surfactant
16 Rajavithi Health Promotion Project (Population Base Cohort) Unknown status NCT00368095 Phase 4
17 Kagoshima Collaborate Trial in Metabolic Syndrome (KACT Study) Unknown status NCT00790946 Phase 4 Valsartan
18 Prevention of Chronic Lung Disease (CLD) in Preterm Infants Unknown status NCT00883532 Phase 4 budesonide;surfactant and air (placebo)
19 Safety and Efficacy of Anti-Pandemic H1N1 Vaccination in Rheumatic Diseases Unknown status NCT01151644 Phase 4
20 Surfactant Administration During Spontaneous Breathing Unknown status NCT01329432 Phase 4
21 Brain Oxygenation and Function of Preterm Newborns During Administration of Two Different Surfactant Preparations Unknown status NCT01941524 Phase 4 Poractant alfa instillation;Beractant instillation
22 Metformin for Weight Control in Adolescents Taking Atypical Antipsychotics Unknown status NCT00845936 Phase 4 Metformin
23 The Monitor of Serum Prolactin Level in a 3 Months Aripiprazole Trial Unknown status NCT00468533 Phase 4 Aripiprazole
24 Sublingual Misoprostol for Induction of Labor Unknown status NCT01406392 Phase 4 Misoprostol 25mcg;Sublingual Misoprostol
25 Evaluation of the Effects of Laying Early a Gastric Band on the Prevention of Morbid Obesity Randomized Checked Against Standard Management of Obesity in This Population. Unknown status NCT01700738 Phase 4
26 Renal Effects of Levosimendan in Patients Admitted With Acute Decompensated Heart Failure Unknown status NCT00527059 Phase 4 Levosimendan in addition to standard therapy;spironolactone, beta-blockers,ecc
27 Statin and Angiotensin-converting Enzyme Inhibitor on Symptoms in Patients With SCAD Unknown status NCT02008786 Phase 4 ramipril;rosuvastatin;placebo
28 Neurally Adjusted Ventilatory Assist (NAVA) vs. Pressure Support in Pediatric Acute Respiratory Failure Unknown status NCT01873521 Phase 4
29 Study of the Effect of Moxonidine and Diet on Sympathetic Functions in Young Adults With Obesity Unknown status NCT01180231 Phase 4 Moxonidine (Physiotens)
30 An Open-Label Study to Evaluate the Efficacy of High-Dose Gammaplex in Children on the Autism Spectrum Unknown status NCT02199925 Phase 4 Gammaplex 5%
31 Status of Growth Hormone/ Insulin-like Growth Factor-1 (GH/IGF-1) Axis and Growth Failure in Ataxia Telangiectasia (AT) Unknown status NCT01052623 Phase 4 Somatropin, Clonidine, L-Arginin-Hydrochloride, Estradiol valerate
32 Equivalence of Boosted Atazanavir Based Regimens and Currently Effective HAART Regimens Unknown status NCT00940771 Phase 4 Boosted Atazanavir
33 Self-control Trial to Evaluate the Role of Aprepitant in the Prophylaxis of Post-lumbar-punture-headache (PLPH) Unknown status NCT02347878 Phase 4 Aprepitant
34 Evaluation and Reconditioning of Marginal Lung Donors to Transplantation by ex Vivo Lung Perfusion Unknown status NCT01353105 Phase 4
35 Delayed Vasospasm After Aneurysm With the Standardization Treatment of Traditional Chinese Medicine Unknown status NCT01840761 Phase 4 herbal drug;placebo
36 Safety and Efficacy of Gardasil in Females With Juvenile Idiopathic Arthritis (JIA)/Seronegative Arthritis Unknown status NCT00573651 Phase 4
37 Diagnostic Immunization With Rabies Vaccine in Patients With PID Unknown status NCT02490956 Phase 4
38 The Efficacy of Methylprednisolone in the Treatment of Patients With Ocular Involvement in Behcet's Disease Unknown status NCT01306955 Phase 4 methylorednisolone
39 Therapeutic Effect of Tacrolimus on Primary Nephrotic Syndrome in Children Completed NCT01162005 Phase 4 Tacrolimus
40 Vancomycin Associated Red Man Syndrome (RMS) Completed NCT00824122 Phase 4
41 Is There a Sensibility Increased in the Growth Hormone at Child With Prader-Willi Syndrome? Completed NCT01298180 Phase 4 Growth hormone (Genotonorm® or Omnitrope®)
42 Efficacy of Oral Leukotriene in Long Term Therapy of Mild and Moderate Obstructive Sleep Apnea Syndrome in Children Completed NCT00912171 Phase 4 budesonide (Aircort 50 nasal spray);montelukast (Singulair)
43 Levothyroxine for Children With Euthyroid Sick Syndrome Completed NCT01631305 Phase 4 Levothyroxine
44 First Year Growth Response Associated Genetic Markers Validation Phase IV Open-label Study in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children: the PREDICT Pharmacogenetics Validation Study Completed NCT01419249 Phase 4
45 Predictive Markers in GHD and TS Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen
46 Nasal Budesonide in Children With Rhinitis and/or Mild Obstructive Sleep Apnea Syndrome Completed NCT00560586 Phase 4 Budesonide;placebo
47 Topical Brinzolamide Ophthalmic Suspension Versus Placebo in the Treatment of Infantile Nystagmus Syndrome Completed NCT01312402 Phase 4 topical brinzolamide 1% in 5mL ophthalmic medication;Placebo in 5 mL dispenser
48 Mycophenolate Mofetil in Pediatric Steroid Dependent Nephrotic Syndrome Completed NCT01895894 Phase 4 Mycophenolate mofetil
49 Estrogen Dosing in Turner Syndrome: Pharmacology and Metabolism Completed NCT00837616 Phase 4 17 B estradiol orally;17 B estradiol
50 Rasburicase for Treatment of Hyperuricemia in Children and Adolescence Patients With Tumor Lysis Syndrome Completed NCT00563771 Phase 4 Rasburicase

Search NIH Clinical Center for Kid Syndrome

Genetic Tests for Kid Syndrome

Genetic tests related to Kid Syndrome:

id Genetic test Affiliating Genes
1 Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant 29 24 GJB2

Anatomical Context for Kid Syndrome

MalaCards organs/tissues related to Kid Syndrome:

39
Bone, Bone Marrow, Lung, Heart, Myeloid, Testes, T Cells

Publications for Kid Syndrome

Articles related to Kid Syndrome:

(show top 50) (show all 79)
id Title Authors Year
1
Infectious keratitis in a patient with kid syndrome. ( 28461083 )
2017
2
Connexin 26 (GJB2) mutation in an Argentinean patient with keratitis-ichthyosis-deafness (KID) syndrome: a case report. ( 27141831 )
2016
3
Altered cellular localization and hemichannel activities of KID syndrome associated connexin26 I30N and D50Y mutations. ( 26831144 )
2016
4
Diminution of Langerhans cells in keratitis, ichthyosis and deafness (KID) syndrome patient with recalcitrant cutaneous candidiasis. ( 26333049 )
2015
5
Treatment of keratitis-ichthyosis- deafness (KID) syndrome in children: a case report and review of the literature. ( 25546246 )
2015
6
Altered epidermal lipid processing and calcium distribution in the KID syndrome mouse model Cx26S17F. ( 26070424 )
2015
7
Connexin26 hemichannels with a mutation that causes KID syndrome in humans lack sensitivity to CO2. ( 25422938 )
2014
8
Heterozygous p.Asp50Asn mutation in the GJB2 gene in two Cameroonian patients with keratitis-ichthyosis-deafness (KID) syndrome. ( 23924173 )
2013
9
Quantitative analysis of fecal flora in goat kids with and without floppy kid syndrome. ( 23952589 )
2013
10
KID syndrome: histopathological, immunohistochemical and molecular analysis of precancerous and cancerous skin lesions. ( 21848689 )
2012
11
Diffuse hyperkeratosis in a deaf and blind 48-year-old woman--quiz case. Diagnosis: keratitis-ichthyosis-deafness (KID) syndrome with secondary dermatophytosis. ( 23069961 )
2012
12
Sebaceous carcinoma arising at a chronic candidiasis skin lesion of a patient with keratitis-ichthyosis-deafness (KID) syndrome. ( 21777204 )
2012
13
A novel mutation in the connexin 26 gene (GJB2) in a child with clinical and histological features of keratitis-ichthyosis-deafness (KID) syndrome. ( 20846357 )
2011
14
Severe form of keratitis-ichthyosis-deafness (KID) syndrome associated with septic complications. ( 20629838 )
2010
15
Connexin 26 (GJB2) mutations, causing KID Syndrome, are associated with cell death due to calcium gating deregulation. ( 20230788 )
2010
16
Connexin 26 (GJB2) mutations as a cause of the KID syndrome with hearing loss. ( 20307501 )
2010
17
Porokeratotic eccrine duct and hair follicle nevus (PEHFN) associated with keratitis-ichthyosis-deafness (KID) syndrome. ( 21182641 )
2010
18
Imaging Keratitis-Icthyosis-Deafness (KID) syndrome with FDG-PET (F18-fluorodeoxiglucose-Positron Emission Tomography). ( 22470741 )
2010
19
Keratitis, ichthyosis, and deafness (KID) syndrome associated with ventricular septal defect. ( 20465629 )
2010
20
Histopathology and treatment of corneal disease in keratitis, ichthyosis, and deafness (KID) syndrome. ( 19590522 )
2010
21
Keratitis-ichthyosis-deafness (KID) syndrome. ( 19891919 )
2009
22
Cochlear implantation in children with keratitis-ichthyosis-deafness (KID) syndrome: outcomes in three cases. ( 19023871 )
2009
23
A rare connexin 26 mutation in a patient with a forme fruste of keratitis-ichthyosis-deafness (KID) syndrome. ( 19785089 )
2009
24
Dandy-Walker malformation in patients with KID syndrome associated with a heterozygote mutation (p.Asp50Asn) in the GJB2 gene encoding connexin 26. ( 19793313 )
2009
25
KID syndrome patient with toe walking: a case report. ( 19466627 )
2009
26
A report of GJB2 (N14K) Connexin 26 mutation in two patients--a new subtype of KID syndrome? ( 18950394 )
2008
27
A familial case of Keratitis-Ichthyosis-Deafness (KID) syndrome with the GJB2 mutation G45E. ( 18024254 )
2008
28
Connexin 26 mutation in keratitis-ichthyosis-deafness (KID) syndrome in mother and daughter with combined conductive and sensorineural hearing loss. ( 18412859 )
2008
29
Successful cochlear implantation in a child with Keratosis, Icthiosis and Deafness (KID) Syndrome and Dandy-Walker malformation. ( 18313767 )
2008
30
Long-term use of fluconazole for verrucous plaques of cutaneous candidiasis in KID syndrome. ( 18573732 )
2008
31
KID syndrome. ( 18319008 )
2007
32
A case of keratitis-ichthyosis-deafness (KID) syndrome. ( 17442083 )
2007
33
Surgical therapy in a patient with Keratosis-Ichthyosis-Deafness (KID) syndrome associated with follicular occlusion triad. ( 17673397 )
2007
34
Keratitis-ichthyosis-deafness (KID) syndrome with squamous cell carcinoma. ( 17442084 )
2007
35
Malignant proliferating pilar tumors arising in KID syndrome: a report of two patients. ( 17330861 )
2007
36
A case of keratitis ichthyosis deafness (KID) syndrome associated with Dandy-Walker. ( 17448003 )
2007
37
Connexin 26 (GJB2) mutations in two Swedish patients with atypical Vohwinkel (mutilating keratoderma plus deafness) and KID syndrome both extensively treated with acitretin. ( 17106596 )
2006
38
Floppy kid syndrome caused by D-lactic acidosis in goat kids. ( 16955830 )
2006
39
What syndrome is this? KID syndrome (keratitis, ichthyosis, deafness). ( 16445421 )
2006
40
Neurotological and neuroanatomical changes in the connexin-26-related HID/KID syndrome. ( 16679758 )
2006
41
Ocular manifestations of keratitis-ichthyosis-deafness (KID) syndrome. ( 15691545 )
2005
42
KID Syndrome: report of a Scandinavian patient with connexin-26 gene mutation. ( 15823911 )
2005
43
Genetic heterogeneity of KID syndrome: identification of a Cx30 gene (GJB6) mutation in a patient with KID syndrome and congenital atrichia. ( 15140211 )
2004
44
Additional aspects of keratitis, ichthyosis, and deafness (KID) syndrome. ( 15283813 )
2004
45
Two patients with severe corneal disease in KID syndrome. ( 14700667 )
2004
46
De novo mutation in the gene encoding connexin-26 (GJB2) in a sporadic case of keratitis-ichthyosis-deafness (KID) syndrome. ( 12548749 )
2003
47
KID syndrome: response to acitretin. ( 12227483 )
2002
48
HID and KID syndromes are associated with the same connexin 26 mutation. ( 12072059 )
2002
49
Keratitis, ichthyosis, and deafness (KID) syndrome. ( 12437553 )
2002
50
Fatal septicemia in an infant with keratitis, ichthyosis, and deafness (KID) syndrome. ( 12047643 )
2002

Variations for Kid Syndrome

ClinVar genetic disease variations for Kid Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 GJB2 NM_004004.5(GJB2): c.35delG (p.Gly12Valfs) deletion Pathogenic rs80338939 GRCh37 Chromosome 13, 20763686: 20763686
2 GJB2 NM_004004.5(GJB2): c.148G> A (p.Asp50Asn) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
3 GJB2 NM_004004.5(GJB2): c.34G> C (p.Gly12Arg) single nucleotide variant Pathogenic rs104894408 GRCh37 Chromosome 13, 20763687: 20763687
4 GJB2 NM_004004.5(GJB2): c.50C> T (p.Ser17Phe) single nucleotide variant Pathogenic rs28929485 GRCh37 Chromosome 13, 20763671: 20763671
5 GJB2 NM_004004.5(GJB2): c.148G> T (p.Asp50Tyr) single nucleotide variant Pathogenic rs28931594 GRCh37 Chromosome 13, 20763573: 20763573
6 GJB2 NM_004004.5(GJB2): c.134G> A (p.Gly45Glu) single nucleotide variant Pathogenic/Likely pathogenic rs72561723 GRCh37 Chromosome 13, 20763587: 20763587

Expression for Kid Syndrome

Search GEO for disease gene expression data for Kid Syndrome.

Pathways for Kid Syndrome

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

id Super pathways Score Top Affiliating Genes
1
Show member pathways
12.66 GJB2 GJB3 GJB4 GJB6
2
Show member pathways
11.95 GJB2 GJB3 GJB4 GJB6
3
Show member pathways
11.65 GJB2 GJB3 GJB4 GJB6
4
Show member pathways
10.92 GJB2 GJB3 GJB4 GJB6

GO Terms for Kid Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.46 GJB2 GJB3 GJB4 GJB6
2 gap junction GO:0005921 9.26 GJB2 GJB3 GJB4 GJB6
3 connexin complex GO:0005922 8.92 GJB2 GJB3 GJB4 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 response to lipopolysaccharide GO:0032496 9.32 GJB2 GJB6
2 aging GO:0007568 9.26 GJB2 GJB6
3 sensory perception of sound GO:0007605 9.16 GJB2 GJB6
4 inner ear development GO:0048839 8.96 GJB2 GJB6
5 cell communication GO:0007154 8.92 GJB2 GJB3 GJB4 GJB6

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

id Name GO ID Score Top Affiliating Genes
1 gap junction channel activity GO:0005243 8.62 GJB2 GJB3

Sources for Kid Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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