KTZS
MCID: KHL003
MIFTS: 64

Kohlschutter-Tonz Syndrome (KTZS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Kohlschutter-Tonz Syndrome

MalaCards integrated aliases for Kohlschutter-Tonz Syndrome:

Name: Kohlschutter-Tonz Syndrome 56 12 58 73 36 13
Kohlschutter Tonz Syndrome 52 43 71
Epilepsy and Yellow Teeth 56 12 52
Kohlschutter's Syndrome 12 29 6
Ktzs 56 12 73
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome 12 58
Epilepsy Dementia Amelogenesis Imperfecta 12 52
Amelocerebrohypohidrotic Syndrome 12 58
Kohlschütter-Tönz Syndrome 74 39
Kohlschutter Syndrome 56 52
Epilepsy, Dementia, and Amelogenesis Imperfecta 56
Kohlschuetter-Toenz Syndrome 73
Presenile Dementia 71
Dementia 71

Characteristics:

Orphanet epidemiological data:

58
amelocerebrohypohidrotic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,elderly,late childhood,young Adult;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
variable severity
some patients may have normal development until onset of seizures in infancy
some patients show delayed development from birth
seizures are usually refractory at first
seizures may improve with age


HPO:

31
kohlschutter-tonz syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:

Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Summaries for Kohlschutter-Tonz Syndrome

OMIM : 56 Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012). (226750)

MalaCards based summary : Kohlschutter-Tonz Syndrome, also known as kohlschutter tonz syndrome, is related to dementia and amelogenesis imperfecta, and has symptoms including seizures, ataxia and tremor. An important gene associated with Kohlschutter-Tonz Syndrome is ROGDI (Rogdi Atypical Leucine Zipper), and among its related pathways/superpathways are Neuroscience and Reelin Pathway (Cajal-Retzius cells). The drugs Methylcobalamin and Risperidone have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are seizures and spasticity

Disease Ontology : 12 A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has material basis in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3.

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1946 Definition Kohlschutter-Tonz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy , intellectual disability with or without regression and dementia . Visit the Orphanet disease page for more resources.

KEGG : 36 Kohlschutter-Tonz syndrome (KTS) is an autosomal recessive disease characterized by the combination of epilepsy, psychomotor regression, and amelogenesis imperfecta. It has been reported that KTS is caused by mutations in ROGDI, that plays an important role in neuronal development as well as amelogenesis.

UniProtKB/Swiss-Prot : 73 Kohlschuetter-Toenz syndrome: An autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life.

Wikipedia : 74 Kohlschutter-Tonz syndrome (KTS), also called Amelo-cerebro-hypohidrotic syndrome is a rare inherited... more...

Related Diseases for Kohlschutter-Tonz Syndrome

Diseases related to Kohlschutter-Tonz Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 78)
# Related Disease Score Top Affiliating Genes
1 dementia 27.8 TYROBP SERPINI1 PSEN1 MAPT APP APOE
2 amelogenesis imperfecta 10.8
3 autosomal recessive disease 10.7
4 spasticity 10.7
5 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 10.6
6 encephalopathy 10.6
7 hair whorl 10.4
8 attention deficit-hyperactivity disorder 10.4
9 ataxia and polyneuropathy, adult-onset 10.4
10 alacrima, achalasia, and mental retardation syndrome 10.4
11 hypertrichosis 10.4
12 undetermined early-onset epileptic encephalopathy 10.4
13 hypoplastic amelogenesis imperfecta 10.4
14 epilepsy 10.3
15 visual epilepsy 10.1
16 seizure disorder 10.1
17 posterior cortical atrophy 10.0 MAPT APOE
18 simultanagnosia 10.0 MAPT APOE
19 alexia 10.0 MAPT APOE
20 nominal aphasia 10.0 MAPT APOE
21 brain injury 9.9 MAPT APOE
22 progressive non-fluent aphasia 9.9 PSEN1 MAPT
23 alzheimer disease 3 9.8 PSEN1 APOE
24 speech disorder 9.8 TYROBP MAPT
25 residual stage of open angle glaucoma 9.8 APP APOE
26 senile plaque formation 9.8 APP APOE
27 alzheimer disease mitochondrial 9.7 MAPT APP
28 alzheimer disease 6 9.7 APP APOE
29 kuru 9.7 MAPT APP
30 early-onset, autosomal dominant alzheimer disease 9.6 PSEN1 APP
31 hemorrhage, intracerebral 9.6 APP APOE
32 gerstmann syndrome 9.6 PSEN1 MAPT APOE
33 visual agnosia 9.6 PSEN1 MAPT APOE
34 semantic dementia 9.6 PSEN1 MAPT APOE
35 fatal familial insomnia 9.6 MAPT APP
36 alzheimer disease 4 9.6 PSEN1 MAPT APOE
37 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 9.6 APP APOE
38 apraxia 9.5 PSEN1 MAPT APOE
39 binswanger's disease 9.5 MAPT APP APOE
40 arteriolosclerosis 9.4 MAPT APP APOE
41 scrapie 9.4 MAPT APP APOE
42 cerebral degeneration 9.4 MAPT APP APOE
43 inclusion body myositis 9.4 MAPT APP APOE
44 gerstmann-straussler disease 9.4 PSEN1 MAPT APP
45 creutzfeldt-jakob disease 9.3 MAPT APP APOE
46 meningoencephalitis 9.3 PSEN1 APP
47 cerebral amyloid angiopathy, itm2b-related, 1 9.3 SERPINI1 PSEN1 APP
48 myositis 9.3 PSEN1 MAPT APP
49 amnestic disorder 9.3 PSEN1 APP APOE
50 cerebrovascular disease 9.3 MAPT APP APOE

Comorbidity relations with Kohlschutter-Tonz Syndrome via Phenotypic Disease Network (PDN):


Acute Cystitis Alzheimer Disease
Decubitus Ulcer Deficiency Anemia
Heart Disease Schizophreniform Disorder

Graphical network of the top 20 diseases related to Kohlschutter-Tonz Syndrome:



Diseases related to Kohlschutter-Tonz Syndrome

Symptoms & Phenotypes for Kohlschutter-Tonz Syndrome

Human phenotypes related to Kohlschutter-Tonz Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 58 31 hallmark (90%) Very frequent (99-80%) HP:0001250
2 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
3 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
4 developmental regression 58 31 occasional (7.5%) Very frequent (99-80%) HP:0002376
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
7 amelogenesis imperfecta 58 31 hallmark (90%) Very frequent (99-80%) HP:0000705
8 yellow-brown discoloration of the teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006286
9 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
10 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
11 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
12 global developmental delay 31 occasional (7.5%) HP:0001263
13 intellectual disability 31 HP:0001249
14 ataxia 31 HP:0001251
15 ventriculomegaly 31 HP:0002119
16 cerebellar hypoplasia 31 HP:0001321
17 epileptic encephalopathy 31 HP:0200134
18 mental deterioration 58 Very frequent (99-80%)
19 hypsarrhythmia 31 HP:0002521
20 abnormality of dental enamel 58 Very frequent (99-80%)
21 abnormality of dental color 58 Very frequent (99-80%)
22 cerebral atrophy 31 HP:0002059
23 hypoplasia of dental enamel 31 HP:0006297

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
seizures
spasticity
ataxia
hypertonia
cerebellar hypoplasia
more
Head And Neck Teeth:
enamel hypoplasia
amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
discolored teeth

Clinical features from OMIM:

226750

UMLS symptoms related to Kohlschutter-Tonz Syndrome:


seizures, ataxia, tremor, angina pectoris, back pain, pain, headache, syncope, chronic pain, sciatica, vertigo/dizziness, equilibration disorder, sleeplessness, muscle spasticity

MGI Mouse Phenotypes related to Kohlschutter-Tonz Syndrome:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 APOE APP MAPT PSEN1 SERPINI1 SLC13A5
2 hematopoietic system MP:0005397 9.43 APOE APP MAPT PSEN1 SLC13A5 TYROBP
3 muscle MP:0005369 9.02 APOE APP MAPT PSEN1 SLC13A5

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

Drugs for Kohlschutter-Tonz Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 820)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
2
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
3
Haloperidol Approved Phase 4 52-86-8 3559
4
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
5
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
6
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
7
Ethanol Approved Phase 4 64-17-5 702
8
Clozapine Approved Phase 4 5786-21-0 2818
9
Enalaprilat Approved Phase 4 76420-72-9 6917719
10
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
11
Levetiracetam Approved Phase 4 102767-28-2 441341
12
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
13
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
14
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
15
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
16
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
17
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
18
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
19
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
20
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
21
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
22
Manidipine Approved, Investigational Phase 4 89226-50-6
23
Lercanidipine Approved, Investigational Phase 4 100427-26-7 65866
24
Doxazosin Approved Phase 4 74191-85-8 3157
25
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
26
Ramipril Approved Phase 4 87333-19-5 5362129
27
Atenolol Approved Phase 4 29122-68-7 2249
28
Infliximab Approved Phase 4 170277-31-3
29
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
30
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
31
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 4474-91-3, 11128-99-7 172198
32
Losartan Approved Phase 4 114798-26-4 3961
33
Olmesartan Approved, Investigational Phase 4 144689-24-7, 144689-63-4 158781 130881
34
Simvastatin Approved Phase 4 79902-63-9 54454
35
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
36
Prazosin Approved Phase 4 19216-56-9 4893
37
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
38
Ibuprofen Approved Phase 4 15687-27-1 3672
39
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
40
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
41
Mirabegron Approved Phase 4 223673-61-8 9865528
42
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
43
Pravastatin Approved Phase 4 81093-37-0 54687
44
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
45
Opium Approved, Illicit Phase 4 8008-60-4
46
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
47
acetic acid Approved Phase 4 64-19-7 176
48
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
49
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124
50
Clarithromycin Approved Phase 4 81103-11-9 84029

Interventional clinical trials:

(show top 50) (show all 2902)
# Name Status NCT ID Phase Drugs
1 Exploratory Study to Assess the Efficacy of Escitalopram Versus Placebo in the Treatment of Depressive Syndrome in Alzheimer’s Disease, Vascular Dementia and Mixed Vascular and Alzheimer’s Dementia Unknown status NCT00229333 Phase 4 Escitalopram
2 Dopaminergic Enhancement of Learning and Memory (LL_001, Project on Dementia/MCI) Unknown status NCT00306124 Phase 4 Levodopa
3 Pragmatic Randomized Control Trial of Memantine For Agitation In Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
4 A Randomised Placebo Controlled Trial of a Cholinesterase Inhibitor in the Management of Agitation in Dementia That is Unresponsive to a Psychological Intervention Unknown status NCT00142324 Phase 4 Donepezil
5 Open Label Trial of Rivastigmine Patch in Subjects With Mild to Moderate Stage Alzheimer's Disease Having Coexisting Small Vessel Cerebrovascular Disease Unknown status NCT02444637 Phase 4 Rivastigmine
6 Huperzine-A for Cognitive Dysfunction and Functional Status in Schizophrenia Unknown status NCT01012830 Phase 4 Huperzine A
7 Cognitive Dysfunction in PD: Pathophysiology and Potential Treatments, a Pilot Study Unknown status NCT01340885 Phase 4 Strattera;Exelon
8 A 24-Week Pilot, Double-Blind, Randomized, Parallel, Placebo-Controlled Study of Memantine and Constraint-Induced Language Therapy in Chronic Poststroke Aphasia:Correlation With Cognitive Evoked Potentials During Recovery. Unknown status NCT00196703 Phase 4 memantine
9 Memantine Treatment in Alzheimer's Disease Patients Stratified With Behavioral and Psychological Symptoms of Dementia (BPSD) Symptoms and Cognitive Severity: A Multi-center, Open-label, Parallel-group and Prospective Clinical Study Unknown status NCT03168997 Phase 4 Memantine Hydrochloride
10 Transcranial Magnetic Stimulation for Apathy in Mild Cognitive Impairment:Pilot Study Unknown status NCT02190019 Phase 4
11 Phase IV Study of General Clinical Research Center Of the Jinan Mental Hospital(TAIWAN) Unknown status NCT00626613 Phase 4 Risperdal,reminyl
12 Insulin Resistance and Mild Cognitive Impairment (MCI) in Older Chinese Adults With Pre-Diabetes and Diabetes: Cognitive Effects of Lifestyle Intervention and Metformin Treatment in a Randomized Controlled Trial Unknown status NCT02409238 Phase 4 Metformin
13 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
14 Effect of the Stage Specific Cognitive Intervention Program on Functional Cortical Activation in Alzheimer's Disease Unknown status NCT01329601 Phase 4
15 The Effects of Rasagiline on Cognitive Deficits Associated With Parkinson's Disease: A Randomized, Double-Blind, Placebo-Controlled, Multi-Center Study Over 3 Months Unknown status NCT00696215 Phase 4 placebo;rasagiline
16 A 12 Week, Open Label, Efficacy and Safety Study of Desvenlafaxine in the Treatment of Vascular Depression Unknown status NCT01974934 Phase 4 Desvenlafaxine Succinate
17 Delirium: Is Prophylactic Drug Therapy Useful in High Risk Patients as Defined by the Delirium Risk Prediction Model? Unknown status NCT03199950 Phase 4 Haloperidol;Placebo Oral Tablet
18 Study Effects of Ginkgo Biloba Extract on Endothelial Cell Function and Genetic Effects on the Response to Ginkgo Biloba Extract in Diabetic Patients With Stable Coronary Artery Disease Unknown status NCT01038050 Phase 4 Ginkgo Biloba Extract (GBE)
19 CHADSS: Chagas Disease Scan Study Unknown status NCT01650792 Phase 4 Aspirin
20 Does Discontinuation of Aspirin Treatment Following Head Trauma Decrease the Incidence of Chronic Subdural Hematoma? Unknown status NCT01470040 Phase 4 discontinuation of aspirin therapy;continuation of aspirin therapy
21 A Post-Marketing Clinical Study of Aricept in Patients With Dementia With Lewy Bodies (DLB) Completed NCT02345213 Phase 4 E2020;Placebo
22 A Randomised, Double-blind, Placebo-controlled, 6-month Study of the Efficacy and Safety of Memantine in Patients With Parkinson's Disease Dementia or Dementia With Lewy Bodies Completed NCT00855686 Phase 4 Memantine;Placebo
23 Cilostazol Verse Asprin for Vascular Dementia in Poststroke Patients With White Completed NCT00847860 Phase 4 Cilostazol;Aspirin
24 Interventional, Randomised, Double-blind, Study to Evaluate the Safety and Tolerability of Once Daily Versus Twice Daily Memantine Treatment in Patients With Dementia of Alzheimer's Type and MMSE Range 5 - 18 Completed NCT02553928 Phase 4 Memantine (once daily);Memantine (twice daily)
25 The Role of Methycobalamin in Early Dementia Patients With Vitamin B12 Deficiency and Hyperhomocysteinaemia. Completed NCT00165711 Phase 4 Mecobalamin
26 Treatment of Agitation/Psychosis in Dementia/Parkinsonism (TAP/DAP) Completed NCT00043849 Phase 4 Quetiapine
27 A Prospective, Randomized, Multi-Center, Double-Blind, 26 Week, Placebo-Controlled Trial of Memantine (10mg BID) for the Frontal and Temporal Subtypes of Frontotemporal Dementia Completed NCT00545974 Phase 4 memantine;Placebo pill
28 Discontinuation of Antipsychotics and Antidepressants Among Patients With Dementia and BPSD Living in Nursing Homes - an Open Study. Completed NCT00433121 Phase 4 Risperidone;Olanzapine;Haloperidole;Quetiapin;Escitalopram;Citalopram;Sertralin
29 Discontinuation of Antipsychotics and Antidepressants Among Patients With Dementia and BPSD Living in Nursing Homes - a 24 Weeks Double Blind RCT. Completed NCT00594269 Phase 4 Risperidone;Escitalopram;Citalopram;Sertraline;Paroxetine
30 An Open Label Study on the Efficacy and Safety of Donepezil Hydrochloride (Aricept) in Vascular Dementia Completed NCT00165763 Phase 4 donepezil hydrochloride (Aricept)
31 Can Oral Vitamin B12 and Folate Supplementation Preserve Cognitive Function of Patients With Early Dementia? Completed NCT00164970 Phase 4
32 Efficacy of Pain Treatment on Depression in Patients With Dementia. A Randomized Clinical Trial. Completed NCT02267057 Phase 4 Paracetamol;Buprenorphine;Paracetamol placebo;Buprenorphine placebo
33 A Randomized Placebo-controlled Trial Evaluating the Effect of Melatonin on Sleep Quality in Patients With Dementia Completed NCT03066518 Phase 4 Melatonin 5 mg
34 Study on the Efficacy of Speed-Feedback Therapy for Elderly People With Dementia: a Randomized Controlled Trial Completed NCT00450047 Phase 4
35 Efficacy and Tolerance of EGb 761® 120mg Two Times a Day on Dementia of Alzheimer Type's Onset in Patients Suffering From Memory Complaints. A Randomised, Double-blind, Multicentre, Parallel Groups, Placebo Controlled Phase IIIb/IV Study in Elderly Over 70 Completed NCT00276510 Phase 4 EGb 761® (Tanakan®)
36 Cilostazol Augmentation Study In Dementia (CASID): A Randomized, Placebo-controlled Pilot Study to Compare the Efficacy Between Donepezil Monotherapy and Cilostazol Augmentation Therapy in Alzheimer's Disease Patients With Subcortical White Matter Hyperintensities Completed NCT01409564 Phase 4 Cilostazol;Placebo
37 An Open-Label Exploratory Study With Memantine: Assessment of Selected Measures of Volumetric MRI and Cognition in Patients With Moderate Dementia of the Alzheimer's Type Completed NCT00334906 Phase 4 memantine HCl
38 Corticolimbic Degeneration and Treatment of Dementia Completed NCT00768261 Phase 4 Memantine (Namenda®);Donepezil (Aricept®)
39 The Use of Galantamine (Reminyl ER) in Patients With MIXed Dementia: Effects on Cognition and Quality of Life Completed NCT00814658 Phase 4 Galantamine;Nimodipine;Placebo
40 Low-Dose Opiate Therapy for Discomfort in Dementia (L-DOT) Completed NCT00385684 Phase 4 hydrocodone/APAP w placebo PRN;hydrocodone/APAP;placebo with hydrocodone/APAP PRN
41 Post Marketing Study of Escitalopram Versus Risperidone for the Treatment of Behavioral and Psychological Symptoms Amongst Alzheimer's Disease Patients Completed NCT01119638 Phase 4 Escitalopram;Risperidone
42 Escitalopram in the Treatment of Patients With Agitated Dementia Completed NCT00260624 Phase 4 Escitalopram (Lexapro)
43 Donepezil for Dementia in Parkinson's Disease: A Randomized, Double Blinded Placebo Controlled Crossover Trial Completed NCT00030979 Phase 4 Donepezil
44 Rivastigmine Patch Effect on the Post-operative Delirium Limited to Femur Neck Fracture Operation in Patients at Risk of Dementia. Completed NCT02413554 Phase 4 Rivastigmine patch
45 Randomized Comparison of Monotherapy (Risperidone, Quetiapine, or Olanzapine) Versus Combination Therapy (Risperidone, Quetiapine, or Olanzapine + Divalproex)in the Management of Dementia With Agitation: A Pilot Comparison of Two Standard Therapies Completed NCT00208819 Phase 4 risperidone;quetiapine;olanzapine;divalproex
46 A Randomized, Double-blind, Placebo-controlled Clinical Trial to Evaluate the Safety and Efficacy of 20 ml Cerebrolysin in Patients With Vascular Dementia Completed NCT00947531 Phase 4 Cerebrolysin;0.9% Saline Solution
47 A Multi-Center, Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study of Donepezil Hydrochloride (E2020) in Patients With Dementia Associated With Cerebrovascular Disease Completed NCT02660983 Phase 4 Donepezil hydrochloride;Donepezil matching placebo;Donepezil hydrochloride
48 A 52-week, Prospective, Multi-center, Open-label Study to Assess the Tolerability of Rivastigmine Before and After Switching From Oral Formulation to Transdermal Patch in Patients With Alzheimer's Dementia in a Controlled Titration Schedule Completed NCT01585272 Phase 4 ENA713
49 A 24 Week, Prospective, Randomized, Parallel-group, Double-blind, Multi-center Study (ENA713DUS44) Comparing the Effects of Rivastigmine Patch 15 cm^2 vs. Rivastigmine Patch 5 cm^2 on ACTivities of Daily Living and CognitION in Patients With Severe Dementia of the Alzheimer's Type (ACTION) and a 24-week Open-label Extension to Study ENA713DUS44 Completed NCT00948766 Phase 4 Rivastigmine 4.6 mg/24 h (5 cm^2);Rivastigmine 9.5 mg/24 h (10 cm^2);Rivastigmine 13.3 mg/24 h (15 cm^2);Placebo
50 Evaluation of Efficacy and Safety of Galantamine in Subjects With Dementia of Alzheimer's Type Who Failed to Benefit From Donepezil Completed NCT01478633 Phase 4 Galantamine

Search NIH Clinical Center for Kohlschutter-Tonz Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Citalopram
Citalopram hydrobromide
Prochlorperazine
Prochlorperazine Edisylate Salt
Prochlorperazine Maleate
Risperidone

Cochrane evidence based reviews: kohlschutter tonz syndrome

Genetic Tests for Kohlschutter-Tonz Syndrome

Genetic tests related to Kohlschutter-Tonz Syndrome:

# Genetic test Affiliating Genes
1 Kohlschutter's Syndrome 29 ROGDI

Anatomical Context for Kohlschutter-Tonz Syndrome

MalaCards organs/tissues related to Kohlschutter-Tonz Syndrome:

40
Brain, Testes, Heart, Kidney, Lung, Retina, Monocytes

Publications for Kohlschutter-Tonz Syndrome

Articles related to Kohlschutter-Tonz Syndrome:

(show all 36)
# Title Authors PMID Year
1
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. 61 56 6
22482807 2012
2
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. 56 6
23086778 2013
3
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 56 6
22424600 2012
4
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. 56 6
16411202 2006
5
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome. 56 6
7625549 1995
6
Kohlschütter syndrome: syndrome of epilepsy--dementia--amelogenesis imperfecta. 56 6
8133980 1993
7
A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. 56 6
3236364 1988
8
Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia. 56 6
4372200 1974
9
Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. 56
17043677 2007
10
Kohlschutter syndrome in siblings. 56
15930900 2005
11
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 56
8160757 1994
12
Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta. 56
8357021 1993
13
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. 61
29153277 2018
14
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. 61
27600704 2017
15
Non lethal Raine syndrome and differential diagnosis. 61
27667191 2016
16
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. 61
25565929 2014
17
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel. 61
24630287 2014
18
Tandem action of the O2- and FADH2-dependent halogenases KtzQ and KtzR produce 6,7-dichlorotryptophan for kutzneride assembly. 61
18828589 2008
19
PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease. 54
18583368 2008
20
Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene. 54
17606885 2007
21
Investigation of laser-microdissected inclusion bodies. 54
17586264 2007
22
Pathological and physiological functions of presenilins. 54
16930451 2006
23
Mutations in the tau gene (MAPT) in FTDP-17: the family with Multiple System Tauopathy with Presenile Dementia (MSTD). 54
16914875 2006
24
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. 54
11891833 2002
25
A new case of frontotemporal dementia and parkinsonism resulting from an intron 10 +3-splice site mutation in the tau gene: clinical and pathological features. 54
10931371 2000
26
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. 54
10888890 2000
27
Variant Alzheimer's disease with spastic paraparesis: clinical characterization. 54
10720282 2000
28
A distinct familial presenile dementia with a novel missense mutation in the tau gene. 54
10208578 1999
29
Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium. 54
9828133 1998
30
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. 54
9636220 1998
31
Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. 54
9108114 1997
32
Comparison of the neurofibrillary pathology in Alzheimer's disease and familial presenile dementia with tangles. 54
8811124 1996
33
Developmental changes of apolipoprotein E immunoreactivity in Down syndrome brains. 54
7586507 1995
34
Screening Alzheimer's disease patients for mutations in the amyloid precursor protein gene. 54
8321254 1993
35
Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia. 54
1307241 1992
36
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 54
1303239 1992

Variations for Kohlschutter-Tonz Syndrome

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

6 (show top 50) (show all 114) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ROGDI NM_024589.2(ROGDI):c.227_228CT[1] (p.Leu77fs)short repeat Pathogenic 31225 rs764899074 16:4851293-4851294 16:4801292-4801293
2 ROGDI NM_024589.2(ROGDI):c.286C>T (p.Gln96Ter)SNV Pathogenic 31226 rs387907145 16:4850549-4850549 16:4800548-4800548
3 ROGDI NM_024589.2(ROGDI):c.531+5G>CSNV Pathogenic 31227 rs749657986 16:4848565-4848565 16:4798564-4798564
4 ROGDI NM_024589.2(ROGDI):c.532-2A>TSNV Pathogenic 31228 rs786205119 16:4848187-4848187 16:4798186-4798186
5 ROGDI NM_024589.2(ROGDI):c.469C>T (p.Arg157Ter)SNV Pathogenic 31229 rs387907146 16:4848632-4848632 16:4798631-4798631
6 ROGDI NM_024589.2(ROGDI):c.507del (p.Glu170fs)deletion Pathogenic 41465 rs786205124 16:4848594-4848594 16:4798593-4798593
7 ROGDI NM_024589.2(ROGDI):c.45+37_46-30delshort repeat Pathogenic 41466 rs786205125 16:4852484-4852491 16:4802483-4802490
8 ROGDI NM_024589.2(ROGDI):c.506_507dup (p.Glu170fs)duplication Pathogenic 453294 rs786205124 16:4848593-4848594 16:4798592-4798593
9 ROGDI NC_000016.9:g.(?_4847441)_(4852592_?)deldeletion Pathogenic 583558 16:4847441-4852592 16:4797440-4802591
10 ROGDI NM_024589.2(ROGDI):c.117+1G>ASNV Pathogenic 565630 rs570952151 16:4852382-4852382 16:4802381-4802381
11 ROGDI NM_024589.2(ROGDI):c.340C>T (p.Gln114Ter)SNV Pathogenic 461607 rs1555491350 16:4849779-4849779 16:4799778-4799778
12 ROGDI NM_024589.2(ROGDI):c.665dup (p.Ala223fs)duplication Pathogenic 530797 rs1039568775 16:4847968-4847969 16:4797967-4797968
13 ROGDI NM_024589.2(ROGDI):c.302_308dup (p.Glu104fs)duplication Pathogenic 654553 16:4850526-4850527 16:4800525-4800526
14 ROGDI NM_024589.2(ROGDI):c.645+2T>ASNV Likely pathogenic 654474 16:4848070-4848070 16:4798069-4798069
15 ROGDI NM_024589.2(ROGDI):c.118-2A>GSNV Likely pathogenic 410627 rs1060502981 16:4851588-4851588 16:4801587-4801587
16 ROGDI NM_024589.2(ROGDI):c.783C>T (p.Phe261=)SNV Conflicting interpretations of pathogenicity 241507 rs142481526 16:4847754-4847754 16:4797753-4797753
17 ROGDI NM_024589.2(ROGDI):c.243C>T (p.Ala81=)SNV Conflicting interpretations of pathogenicity 241506 rs148051351 16:4851280-4851280 16:4801279-4801279
18 ROGDI NM_024589.2(ROGDI):c.646-5C>TSNV Conflicting interpretations of pathogenicity 261744 rs115660765 16:4847993-4847993 16:4797992-4797992
19 ROGDI NM_024589.2(ROGDI):c.713G>A (p.Arg238His)SNV Conflicting interpretations of pathogenicity 319399 rs138409264 16:4847824-4847824 16:4797823-4797823
20 ROGDI NM_024589.2(ROGDI):c.567G>A (p.Leu189=)SNV Conflicting interpretations of pathogenicity 319402 rs143000899 16:4848150-4848150 16:4798149-4798149
21 ROGDI NM_024589.2(ROGDI):c.522C>T (p.Ser174=)SNV Conflicting interpretations of pathogenicity 319404 rs150687774 16:4848579-4848579 16:4798578-4798578
22 ROGDI NM_024589.2(ROGDI):c.625C>G (p.Leu209Val)SNV Conflicting interpretations of pathogenicity 319401 rs144866271 16:4848092-4848092 16:4798091-4798091
23 ROGDI NM_024589.2(ROGDI):c.532-4G>ASNV Conflicting interpretations of pathogenicity 319403 rs3747610 16:4848189-4848189 16:4798188-4798188
24 ROGDI NM_024589.2(ROGDI):c.436A>T (p.Met146Leu)SNV Uncertain significance 319405 rs886052037 16:4848665-4848665 16:4798664-4798664
25 ROGDI NM_024589.2(ROGDI):c.118-13C>GSNV Uncertain significance 319407 rs201794245 16:4851599-4851599 16:4801598-4801598
26 ROGDI NM_024589.2(ROGDI):c.-69C>TSNV Uncertain significance 319408 rs886052038 16:4852641-4852641 16:4802640-4802640
27 ROGDI NM_024589.2(ROGDI):c.-74A>CSNV Uncertain significance 319409 rs886052039 16:4852646-4852646 16:4802645-4802645
28 ROGDI NM_024589.2(ROGDI):c.-198deldeletion Uncertain significance 319412 rs569838251 16:4852770-4852770 16:4802769-4802769
29 ROGDI NM_024589.2(ROGDI):c.-325G>CSNV Uncertain significance 319414 rs886052040 16:4852897-4852897 16:4802896-4802896
30 ROGDI NM_024589.2(ROGDI):c.*454G>ASNV Uncertain significance 319389 rs540581745 16:4847007-4847007 16:4797006-4797006
31 ROGDI NM_024589.2(ROGDI):c.*355G>TSNV Uncertain significance 319392 rs886052035 16:4847106-4847106 16:4797105-4797105
32 ROGDI NM_024589.2(ROGDI):c.*112C>TSNV Uncertain significance 319397 rs886052036 16:4847349-4847349 16:4797348-4797348
33 ROGDI NM_024589.2(ROGDI):c.-131C>GSNV Uncertain significance 319411 rs186867384 16:4852703-4852703 16:4802702-4802702
34 ROGDI NM_024589.2(ROGDI):c.-379T>CSNV Uncertain significance 319417 rs886052042 16:4852951-4852951 16:4802950-4802950
35 ROGDI NM_024589.2(ROGDI):c.397A>G (p.Ser133Gly)SNV Uncertain significance 410629 rs987191768 16:4849722-4849722 16:4799721-4799721
36 ROGDI NM_024589.2(ROGDI):c.347C>G (p.Ala116Gly)SNV Uncertain significance 410628 rs1060502982 16:4849772-4849772 16:4799771-4799771
37 ROGDI NM_024589.2(ROGDI):c.*347G>TSNV Uncertain significance 319393 rs117730440 16:4847114-4847114 16:4797113-4797113
38 ROGDI NM_024589.2(ROGDI):c.822+14G>ASNV Uncertain significance 319398 rs200558978 16:4847701-4847701 16:4797700-4797700
39 ROGDI NM_024589.2(ROGDI):c.175G>A (p.Glu59Lys)SNV Uncertain significance 319406 rs2305659 16:4851529-4851529 16:4801528-4801528
40 ROGDI NM_024589.2(ROGDI):c.-89G>TSNV Uncertain significance 319410 rs538342367 16:4852661-4852661 16:4802660-4802660
41 ROGDI NM_024589.2(ROGDI):c.45+9_45+20deldeletion Uncertain significance 41467 rs772340154 16:4852508-4852519 16:4802507-4802518
42 ROGDI NM_024589.2(ROGDI):c.-338C>TSNV Uncertain significance 319415 rs757790008 16:4852910-4852910 16:4802909-4802909
43 ROGDI NM_024589.2(ROGDI):c.-342C>ASNV Uncertain significance 319416 rs886052041 16:4852914-4852914 16:4802913-4802913
44 ROGDI NM_024589.2(ROGDI):c.*451C>GSNV Uncertain significance 319390 rs886052034 16:4847010-4847010 16:4797009-4797009
45 ROGDI NM_024589.2(ROGDI):c.*270T>CSNV Uncertain significance 319395 rs76192577 16:4847191-4847191 16:4797190-4797190
46 ROGDI NM_024589.2(ROGDI):c.819C>G (p.Asp273Glu)SNV Uncertain significance 461617 rs762853362 16:4847718-4847718 16:4797717-4797717
47 ROGDI NM_024589.2(ROGDI):c.851A>G (p.Tyr284Cys)SNV Uncertain significance 461619 rs370584122 16:4847474-4847474 16:4797473-4797473
48 ROGDI NM_024589.2(ROGDI):c.344A>G (p.Asp115Gly)SNV Uncertain significance 461609 rs771509465 16:4849775-4849775 16:4799774-4799774
49 ROGDI NM_024589.2(ROGDI):c.695+5G>ASNV Uncertain significance 583387 rs1567597416 16:4847934-4847934 16:4797933-4797933
50 ROGDI NM_024589.2(ROGDI):c.541G>A (p.Ala181Thr)SNV Uncertain significance 565389 rs750166706 16:4848176-4848176 16:4798175-4798175

Expression for Kohlschutter-Tonz Syndrome

Search GEO for disease gene expression data for Kohlschutter-Tonz Syndrome.

Pathways for Kohlschutter-Tonz Syndrome

GO Terms for Kohlschutter-Tonz Syndrome

Cellular components related to Kohlschutter-Tonz Syndrome according to GeneCards Suite gene sharing:

(show all 17)
# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 10.09 TYROBP SLC13A5 ROGDI PSEN1 MAPT APP
2 cell projection GO:0042995 9.86 ROGDI PSEN1 MAPT APP
3 cytoplasmic vesicle GO:0031410 9.81 SERPINI1 ROGDI PSEN1 APP
4 early endosome GO:0005769 9.71 PSEN1 APP APOE
5 membrane raft GO:0045121 9.67 PSEN1 MAPT APP
6 dendrite GO:0030425 9.67 ROGDI PSEN1 MAPT APOE
7 growth cone GO:0030426 9.63 PSEN1 MAPT APP
8 synaptic vesicle GO:0008021 9.61 ROGDI PSEN1 APP
9 perikaryon GO:0043204 9.58 SERPINI1 ROGDI APP
10 rough endoplasmic reticulum GO:0005791 9.57 PSEN1 APP
11 neuronal cell body GO:0043025 9.56 SERPINI1 PSEN1 MAPT APOE
12 dendritic shaft GO:0043198 9.52 PSEN1 APP
13 smooth endoplasmic reticulum GO:0005790 9.48 PSEN1 APP
14 axon GO:0030424 9.46 ROGDI PSEN1 MAPT APP
15 ciliary rootlet GO:0035253 9.32 PSEN1 APP
16 cell GO:0005623 9.1 TYROBP ROGDI PSEN1 MAPT APP APOE
17 main axon GO:0044304 8.96 MAPT APP

Biological processes related to Kohlschutter-Tonz Syndrome according to GeneCards Suite gene sharing:

(show all 36)
# Name GO ID Score Top Affiliating Genes
1 regulation of gene expression GO:0010468 9.81 PSEN1 APP APOE
2 cellular protein metabolic process GO:0044267 9.8 PSEN1 APP APOE
3 negative regulation of gene expression GO:0010629 9.76 PSEN1 MAPT APP APOE
4 neuron projection development GO:0031175 9.75 MAPT APP APOE
5 response to oxidative stress GO:0006979 9.74 PSEN1 APP APOE
6 positive regulation of protein binding GO:0032092 9.67 PSEN1 APP
7 neurogenesis GO:0022008 9.67 ROGDI PSEN1
8 learning or memory GO:0007611 9.66 PSEN1 APP
9 regulation of synaptic plasticity GO:0048167 9.66 PSEN1 MAPT
10 cellular response to amyloid-beta GO:1904646 9.65 PSEN1 APP
11 neuron apoptotic process GO:0051402 9.65 PSEN1 APP
12 positive regulation of neuron death GO:1901216 9.65 TYROBP MAPT
13 forebrain development GO:0030900 9.65 TYROBP PSEN1 APP
14 cellular response to nerve growth factor stimulus GO:1990090 9.64 MAPT APP
15 positive regulation of phosphorylation GO:0042327 9.63 PSEN1 APP
16 microglial cell activation GO:0001774 9.62 MAPT APP
17 positive regulation of dendritic spine development GO:0060999 9.62 PSEN1 APOE
18 regulation of protein binding GO:0043393 9.61 PSEN1 APP
19 positive regulation of glycolytic process GO:0045821 9.61 PSEN1 APP
20 response to lead ion GO:0010288 9.6 MAPT APP
21 positive regulation of superoxide anion generation GO:0032930 9.59 TYROBP MAPT
22 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.58 TYROBP APP
23 amyloid fibril formation GO:1990000 9.56 MAPT APP
24 amyloid precursor protein metabolic process GO:0042982 9.55 PSEN1 APOE
25 neuron projection maintenance GO:1990535 9.54 PSEN1 APP
26 synapse organization GO:0050808 9.54 PSEN1 MAPT APP
27 modulation of age-related behavioral decline GO:0090647 9.52 PSEN1 APP
28 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.51 TYROBP APP
29 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.49 PSEN1 APP
30 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.43 PSEN1 APP
31 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.43 TYROBP PSEN1 APP
32 astrocyte activation involved in immune response GO:0002265 9.4 PSEN1 APP
33 astrocyte activation GO:0048143 9.33 PSEN1 MAPT APP
34 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.32 PSEN1 APP
35 negative regulation of long-term synaptic potentiation GO:1900272 9.13 TYROBP APP APOE
36 positive regulation of amyloid fibril formation GO:1905908 8.8 PSEN1 APP APOE

Molecular functions related to Kohlschutter-Tonz Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 signaling receptor binding GO:0005102 9.13 TYROBP APP APOE
2 lipoprotein particle binding GO:0071813 8.62 MAPT APOE

Sources for Kohlschutter-Tonz Syndrome

3 CDC
7 CNVD
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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
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44 MESH via Orphanet
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48 NCI
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50 NDF-RT
53 NINDS
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56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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