KTZS
MCID: KHL003
MIFTS: 63

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 57 59 74 37 13
Kohlschütter-Tönz Syndrome 75 40
Kohlschutter Tonz Syndrome 53 72
Epilepsy and Yellow Teeth 57 53
Kohlschutter's Syndrome 29 6
Kohlschutter Syndrome 57 53
Ktzs 57 74
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome 59
Epilepsy, Dementia, and Amelogenesis Imperfecta 57
Epilepsy Dementia Amelogenesis Imperfecta 53
Amelocerebrohypohidrotic Syndrome 59
Kohlschuetter-Toenz Syndrome 74
Presenile Dementia 72
Dementia 72

Characteristics:

Orphanet epidemiological data:

59
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:

57
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:

32
kohlschutter-tonz syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

OMIM 57 226750
KEGG 37 H02058
ICD10 via Orphanet 34 G40.8
UMLS via Orphanet 73 C0406740
Orphanet 59 ORPHA1946
MedGen 42 C0406740
UMLS 72 C0011265 C0406740 C0497327

Summaries for Kohlschutter-Tonz Syndrome

OMIM : 57 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 kohlschütter-tönz 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 Rasagiline and Methylcobalamin have been mentioned in the context of this disorder. Affiliated tissues include brain, testes and heart, and related phenotypes are seizures and spasticity

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1946DefinitionKohlschutter-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 : 37
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 : 74 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 : 75 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 61)
# Related Disease Score Top Affiliating Genes
1 dementia 27.6 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 10.4
15 simultanagnosia 10.2 MAPT APOE
16 posterior cortical atrophy 10.2 MAPT APOE
17 visual epilepsy 10.1
18 seizure disorder 10.1
19 apraxia 10.1 PSEN1 MAPT
20 progressive non-fluent aphasia 10.1 PSEN1 MAPT
21 communicating hydrocephalus 10.1 MAPT APOE
22 nominal aphasia 10.0 PSEN1 MAPT
23 behavioral variant of frontotemporal dementia 10.0 PSEN1 MAPT
24 hydrocephalus, normal-pressure 10.0 MAPT APOE
25 echolalia 10.0 PSEN1 MAPT
26 brain injury 10.0 MAPT APOE
27 alzheimer disease 4 9.9 PSEN1 APOE
28 alexia 9.9 PSEN1 APOE
29 agraphia 9.9 PSEN1 MAPT
30 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.8 PSEN1 MAPT
31 senile plaque formation 9.8 APP APOE
32 alzheimer's disease 1 9.8 APP APOE
33 cerebral amyloid angiopathy, itm2b-related, 1 9.7 SERPINI1 APP
34 early-onset, autosomal dominant alzheimer disease 9.7 PSEN1 APP
35 hemorrhage, intracerebral 9.6 APP APOE
36 semantic dementia 9.6 PSEN1 MAPT APOE
37 speech and communication disorders 9.6 PSEN1 MAPT APOE
38 prion disease 9.5 MAPT APP
39 alzheimer disease mitochondrial 9.4 MAPT APP APOE
40 binswanger's disease 9.4 MAPT APP APOE
41 supranuclear palsy, progressive, 1 9.4 MAPT APP APOE
42 inclusion body myositis 9.4 MAPT APP APOE
43 cerebrovascular disease 9.3 MAPT APP APOE
44 kluver-bucy syndrome 9.3 PSEN1 MAPT APP
45 hydrocephalus 9.3 MAPT APP APOE
46 gait apraxia 9.3 PSEN1 APP APOE
47 leukoencephalopathy, hereditary diffuse, with spheroids 9.3 MAPT APP
48 amyloidosis 9.2 PSEN1 APP APOE
49 amyotrophic lateral sclerosis 1 9.0 PSEN1 MAPT APP
50 parkinson disease, late-onset 8.9 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:

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0001250
2 spasticity 59 32 hallmark (90%) Very frequent (99-80%) HP:0001257
3 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
4 developmental regression 59 32 occasional (7.5%) Very frequent (99-80%) HP:0002376
5 intellectual disability, severe 59 32 hallmark (90%) Very frequent (99-80%) HP:0010864
6 dementia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000726
7 amelogenesis imperfecta 59 32 hallmark (90%) Very frequent (99-80%) HP:0000705
8 yellow-brown discoloration of the teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006286
9 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
10 hydrocephalus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000238
11 short stature 59 32 occasional (7.5%) Occasional (29-5%) HP:0004322
12 global developmental delay 32 occasional (7.5%) HP:0001263
13 intellectual disability 32 HP:0001249
14 ataxia 32 HP:0001251
15 ventriculomegaly 32 HP:0002119
16 cerebellar hypoplasia 32 HP:0001321
17 epileptic encephalopathy 32 HP:0200134
18 mental deterioration 59 Very frequent (99-80%)
19 hypsarrhythmia 32 HP:0002521
20 abnormality of dental enamel 59 Very frequent (99-80%)
21 abnormality of dental color 59 Very frequent (99-80%)
22 cerebral atrophy 32 HP:0002059
23 hypoplasia of dental enamel 32 HP:0006297

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spasticity
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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 APOE APP MAPT PSEN1 SERPINI1 SLC13A5
2 cellular MP:0005384 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 844)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rasagiline Approved Phase 4 136236-51-6 3052776
2
Methylcobalamin Approved, Experimental, Investigational Phase 4 13422-55-4
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
5
Quinidine Approved, Investigational Phase 4 56-54-2 441074
6
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
7
Haloperidol Approved Phase 4 52-86-8 3559
8
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
9
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
10
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
11
Ethanol Approved Phase 4 64-17-5 702
12
Clozapine Approved Phase 4 5786-21-0 2818
13
Levetiracetam Approved, Investigational Phase 4 102767-28-2 441341
14
Enalapril Approved, Vet_approved Phase 4 75847-73-3 5362032 40466924
15
Enalaprilat Approved Phase 4 76420-72-9 6917719
16
Lisinopril Approved, Investigational Phase 4 83915-83-7, 76547-98-3 5362119
17
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
18
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
19
Lubiprostone Approved, Investigational Phase 4 136790-76-6 656719
20
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
21
Diazepam Approved, Illicit, Investigational, Vet_approved Phase 4 439-14-5 3016
22
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
23
Carvedilol Approved, Investigational Phase 4 72956-09-3 2585
24
Ramipril Approved Phase 4 87333-19-5 5362129
25
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
26
Doxazosin Approved Phase 4 74191-85-8 3157
27
Lercanidipine Approved, Investigational Phase 4 100427-26-7 65866
28
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
29
Manidipine Approved, Investigational Phase 4 89226-50-6
30
Atenolol Approved Phase 4 29122-68-7 2249
31
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
32
Infliximab Approved Phase 4 170277-31-3
33
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
34
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
35
Amlodipine Approved Phase 4 88150-42-9 2162
36
Angiotensin II Approved, Investigational Phase 4 11128-99-7, 68521-88-0, 4474-91-3 172198
37
Warfarin Approved Phase 4 81-81-2 6691 54678486
38
Losartan Approved Phase 4 114798-26-4 3961
39
Atorvastatin Approved Phase 4 134523-00-5 60823
40
Olmesartan Approved, Investigational Phase 4 144689-63-4, 144689-24-7 130881 158781
41
Simvastatin Approved Phase 4 79902-63-9 54454
42
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
43
Prazosin Approved Phase 4 19216-56-9 4893
44
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
45
Ibuprofen Approved Phase 4 15687-27-1 3672
46
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
47
Mirabegron Approved Phase 4 223673-61-8 9865528
48
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
49
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
50
Pravastatin Approved Phase 4 81093-37-0 54687

Interventional clinical trials:

(show top 50) (show all 2787)
# 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 Transcranial Magnetic Stimulation for Apathy in Mild Cognitive Impairment:Pilot Study Unknown status NCT02190019 Phase 4
10 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
11 Phase IV Study of General Clinical Research Center Of the Jinan Mental Hospital(TAIWAN) Unknown status NCT00626613 Phase 4 Risperdal,reminyl
12 Randomized Controlled Trial of Simvastatin in Amnestic MCI Patients Unknown status NCT00842920 Phase 4 Simvastatin;Placebo
13 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
14 Donepezil and Memantine in Moderate to Severe Alzheimer's Disease Unknown status NCT00866060 Phase 4 Memantine;Donepezil;Placebo donepezil;Placebo memantine
15 Effect of the Stage Specific Cognitive Intervention Program on Functional Cortical Activation in Alzheimer's Disease Unknown status NCT01329601 Phase 4
16 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
17 Clinical Protocol of a Prospective, Open-label Study to Assess the Safety and Efficacy of Nuedexta (Dextromethorphan/Quinidine) in the Treatment of Pseudobulbar Affect (PBA) in Patients With Alzheimer's Disease Unknown status NCT01832350 Phase 4 Nuedexta (20/10)
18 A 12 Week, Open Label, Efficacy and Safety Study of Desvenlafaxine in the Treatment of Vascular Depression Unknown status NCT01974934 Phase 4 Desvenlafaxine Succinate
19 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
20 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)
21 CHADSS: Chagas Disease Scan Study Unknown status NCT01650792 Phase 4 Aspirin
22 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
23 A Post-Marketing Clinical Study of Aricept in Patients With Dementia With Lewy Bodies (DLB) Completed NCT02345213 Phase 4 E2020;Placebo
24 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
25 Cilostazol Verse Asprin for Vascular Dementia in Poststroke Patients With White Completed NCT00847860 Phase 4 Cilostazol;Aspirin
26 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)
27 The Role of Methycobalamin in Early Dementia Patients With Vitamin B12 Deficiency and Hyperhomocysteinaemia. Completed NCT00165711 Phase 4 Mecobalamin
28 Treatment of Agitation/Psychosis in Dementia/Parkinsonism (TAP/DAP) Completed NCT00043849 Phase 4 Quetiapine
29 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
30 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
31 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
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 An Open Label Study on the Efficacy and Safety of Donepezil Hydrochloride (Aricept) in Vascular Dementia Completed NCT00165763 Phase 4 donepezil hydrochloride (Aricept)
34 Can Oral Vitamin B12 and Folate Supplementation Preserve Cognitive Function of Patients With Early Dementia? Completed NCT00164970 Phase 4
35 A Randomized Placebo-controlled Trial Evaluating the Effect of Melatonin on Sleep Quality in Patients With Dementia Completed NCT03066518 Phase 4 Melatonin 5 mg
36 Study on the Efficacy of Speed-Feedback Therapy for Elderly People With Dementia: a Randomized Controlled Trial Completed NCT00450047 Phase 4
37 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®)
38 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
39 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
40 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
41 Corticolimbic Degeneration and Treatment of Dementia Completed NCT00768261 Phase 4 Memantine (Namenda®);Donepezil (Aricept®)
42 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
43 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
44 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
45 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
46 Escitalopram in the Treatment of Patients With Agitated Dementia Completed NCT00260624 Phase 4 Escitalopram (Lexapro)
47 Donepezil for Dementia in Parkinson's Disease: A Randomized, Double Blinded Placebo Controlled Crossover Trial Completed NCT00030979 Phase 4 Donepezil
48 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
49 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
50 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

Search NIH Clinical Center for Kohlschutter-Tonz Syndrome

Inferred drug relations via UMLS 72 / NDF-RT 51 :


Citalopram
Citalopram hydrobromide
Prochlorperazine
Prochlorperazine Edisylate Salt
Prochlorperazine Maleate
Risperidone

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:

41
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. 38 8 71
22482807 2012
2
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. 8 71
23086778 2013
3
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 8 71
22424600 2012
4
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. 8 71
16411202 2006
5
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome. 8 71
7625549 1995
6
Kohlschütter syndrome: syndrome of epilepsy--dementia--amelogenesis imperfecta. 8 71
8133980 1993
7
A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. 8 71
3236364 1988
8
Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia. 8 71
4372200 1974
9
Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. 8
17043677 2007
10
Kohlschutter syndrome in siblings. 8
15930900 2005
11
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 8
8160757 1994
12
Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta. 8
8357021 1993
13
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. 38
29153277 2018
14
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. 38
27600704 2017
15
Non lethal Raine syndrome and differential diagnosis. 38
27667191 2016
16
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. 38
25565929 2014
17
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel. 38
24630287 2014
18
Tandem action of the O2- and FADH2-dependent halogenases KtzQ and KtzR produce 6,7-dichlorotryptophan for kutzneride assembly. 38
18828589 2008
19
PET amyloid ligand [11C]PIB uptake shows predominantly striatal increase in variant Alzheimer's disease. 9
18583368 2008
20
Clinical and neuropathologic study of a French family with a mutation in the neuroserpin gene. 9
17606885 2007
21
Investigation of laser-microdissected inclusion bodies. 9
17586264 2007
22
Pathological and physiological functions of presenilins. 9
16930451 2006
23
Mutations in the tau gene (MAPT) in FTDP-17: the family with Multiple System Tauopathy with Presenile Dementia (MSTD). 9
16914875 2006
24
A novel tau mutation, S320F, causes a tauopathy with inclusions similar to those in Pick's disease. 9
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. 9
10931371 2000
26
Loss-of-function mutations in TYROBP (DAP12) result in a presenile dementia with bone cysts. 9
10888890 2000
27
Variant Alzheimer's disease with spastic paraparesis: clinical characterization. 9
10720282 2000
28
A distinct familial presenile dementia with a novel missense mutation in the tau gene. 9
10208578 1999
29
Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium. 9
9828133 1998
30
Mutation in the tau gene in familial multiple system tauopathy with presenile dementia. 9
9636220 1998
31
Familial multiple system tauopathy with presenile dementia: a disease with abundant neuronal and glial tau filaments. 9
9108114 1997
32
Comparison of the neurofibrillary pathology in Alzheimer's disease and familial presenile dementia with tangles. 9
8811124 1996
33
Developmental changes of apolipoprotein E immunoreactivity in Down syndrome brains. 9
7586507 1995
34
Screening Alzheimer's disease patients for mutations in the amyloid precursor protein gene. 9
8321254 1993
35
Mutation in codon 713 of the beta amyloid precursor protein gene presenting with schizophrenia. 9
1307241 1992
36
Presenile dementia and cerebral haemorrhage linked to a mutation at codon 692 of the beta-amyloid precursor protein gene. 9
1303239 1992

Variations for Kohlschutter-Tonz Syndrome

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

6 (show top 50) (show all 133)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 ROGDI NM_024589.2(ROGDI): c.506_507dup (p.Glu170fs) duplication Pathogenic rs786205124 16:4848594-4848595 16:4798593-4798594
2 ROGDI NM_024589.2(ROGDI): c.340C> T (p.Gln114Ter) single nucleotide variant Pathogenic rs1555491350 16:4849779-4849779 16:4799778-4799778
3 ROGDI NM_024589.2(ROGDI): c.227_228CT[1] (p.Leu77fs) short repeat Pathogenic rs764899074 16:4851293-4851294 16:4801292-4801293
4 ROGDI NM_024589.2(ROGDI): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs387907145 16:4850549-4850549 16:4800548-4800548
5 ROGDI NM_024589.2(ROGDI): c.531+5G> C single nucleotide variant Pathogenic rs749657986 16:4848565-4848565 16:4798564-4798564
6 ROGDI NM_024589.2(ROGDI): c.532-2A> T single nucleotide variant Pathogenic rs786205119 16:4848187-4848187 16:4798186-4798186
7 ROGDI NM_024589.2(ROGDI): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907146 16:4848632-4848632 16:4798631-4798631
8 ROGDI NM_024589.2(ROGDI): c.507del (p.Glu170fs) deletion Pathogenic rs786205124 16:4848594-4848594 16:4798593-4798593
9 ROGDI NM_024589.2(ROGDI): c.45+37_46-30del short repeat Pathogenic rs786205125 16:4852484-4852491 16:4802483-4802490
10 ROGDI NC_000016.9: g.(?_4847441)_(4852592_?)del deletion Pathogenic 16:4847441-4852592 16:4797440-4802591
11 ROGDI NM_024589.2(ROGDI): c.117+1G> A single nucleotide variant Pathogenic 16:4852382-4852382 16:4802381-4802381
12 ROGDI NM_024589.2(ROGDI): c.665dup (p.Ala223fs) duplication Pathogenic rs1039568775 16:4847969-4847969 16:4797968-4797968
13 ROGDI NM_024589.2(ROGDI): c.302_308dup (p.Glu104fs) duplication Pathogenic 16:4850526-4850527 16:4800528-4800534
14 ROGDI NM_024589.2(ROGDI): c.645+2T> A single nucleotide variant Likely pathogenic 16:4848070-4848070 16:4798069-4798069
15 ROGDI NM_024589.2(ROGDI): c.118-2A> G single nucleotide variant Likely pathogenic rs1060502981 16:4851588-4851588 16:4801587-4801587
16 ROGDI NM_024589.2(ROGDI): c.646-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115660765 16:4847993-4847993 16:4797992-4797992
17 ROGDI NM_024589.2(ROGDI): c.625C> G (p.Leu209Val) single nucleotide variant Conflicting interpretations of pathogenicity rs144866271 16:4848092-4848092 16:4798091-4798091
18 ROGDI NM_024589.2(ROGDI): c.532-4G> A single nucleotide variant Conflicting interpretations of pathogenicity rs3747610 16:4848189-4848189 16:4798188-4798188
19 ROGDI NM_024589.2(ROGDI): c.522C> T (p.Ser174=) single nucleotide variant Conflicting interpretations of pathogenicity rs150687774 16:4848579-4848579 16:4798578-4798578
20 ROGDI NM_024589.2(ROGDI): c.567G> A (p.Leu189=) single nucleotide variant Conflicting interpretations of pathogenicity rs143000899 16:4848150-4848150 16:4798149-4798149
21 ROGDI NM_024589.2(ROGDI): c.713G> A (p.Arg238His) single nucleotide variant Conflicting interpretations of pathogenicity rs138409264 16:4847824-4847824 16:4797823-4797823
22 ROGDI NM_024589.2(ROGDI): c.243C> T (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs148051351 16:4851280-4851280 16:4801279-4801279
23 ROGDI NM_024589.2(ROGDI): c.783C> T (p.Phe261=) single nucleotide variant Conflicting interpretations of pathogenicity rs142481526 16:4847754-4847754 16:4797753-4797753
24 ROGDI NM_024589.2(ROGDI): c.*270T> C single nucleotide variant Uncertain significance rs76192577 16:4847191-4847191 16:4797190-4797190
25 ROGDI NM_024589.2(ROGDI): c.*451C> G single nucleotide variant Uncertain significance rs886052034 16:4847010-4847010 16:4797009-4797009
26 ROGDI NM_024589.2(ROGDI): c.113T> G (p.Leu38Arg) single nucleotide variant Uncertain significance rs1555491894 16:4852387-4852387 16:4802386-4802386
27 ROGDI NM_024589.2(ROGDI): c.197G> A (p.Cys66Tyr) single nucleotide variant Uncertain significance rs1555491559 16:4851507-4851507 16:4801506-4801506
28 ROGDI NM_024589.2(ROGDI): c.317A> G (p.Lys106Arg) single nucleotide variant Uncertain significance rs545861164 16:4850518-4850518 16:4800517-4800517
29 ROGDI NM_024589.2(ROGDI): c.389G> A (p.Arg130Gln) single nucleotide variant Uncertain significance rs374603311 16:4849730-4849730 16:4799729-4799729
30 ROGDI NM_024589.2(ROGDI): c.336+6C> T single nucleotide variant Uncertain significance rs1555491410 16:4850493-4850493 16:4800492-4800492
31 ROGDI NM_024589.2(ROGDI): c.388C> T (p.Arg130Trp) single nucleotide variant Uncertain significance rs758414235 16:4849731-4849731 16:4799730-4799730
32 ROGDI NM_024589.2(ROGDI): c.337-7C> G single nucleotide variant Uncertain significance 16:4849789-4849789 16:4799788-4799788
33 ROGDI NC_000016.9: g.(?_4847441)_(4852592_?)dup duplication Uncertain significance 16:4847441-4852592 16:4797440-4802591
34 ROGDI NM_024589.2(ROGDI): c.645+4A> C single nucleotide variant Uncertain significance 16:4848068-4848068 16:4798067-4798067
35 ROGDI NM_024589.2(ROGDI): c.645+3G> A single nucleotide variant Uncertain significance 16:4848069-4848069 16:4798068-4798068
36 ROGDI NM_024589.2(ROGDI): c.218G> C (p.Gly73Ala) single nucleotide variant Uncertain significance 16:4851305-4851305 16:4801304-4801304
37 ROGDI NM_024589.2(ROGDI): c.207C> A (p.Asp69Glu) single nucleotide variant Uncertain significance 16:4851316-4851316 16:4801315-4801315
38 ROGDI NM_024589.2(ROGDI): c.349A> G (p.Arg117Gly) single nucleotide variant Uncertain significance 16:4849770-4849770 16:4799769-4799769
39 ROGDI NM_024589.2(ROGDI): c.541G> A (p.Ala181Thr) single nucleotide variant Uncertain significance 16:4848176-4848176 16:4798175-4798175
40 ROGDI NM_024589.2(ROGDI): c.695+5G> A single nucleotide variant Uncertain significance 16:4847934-4847934 16:4797933-4797933
41 ROGDI NM_024589.2(ROGDI): c.-325G> C single nucleotide variant Uncertain significance rs886052040 16:4852897-4852897 16:4802896-4802896
42 ROGDI NM_024589.2(ROGDI): c.-198del deletion Uncertain significance rs569838251 16:4852770-4852770 16:4802769-4802769
43 ROGDI NM_024589.2(ROGDI): c.-74A> C single nucleotide variant Uncertain significance rs886052039 16:4852646-4852646 16:4802645-4802645
44 ROGDI NM_024589.2(ROGDI): c.78G> T (p.Glu26Asp) single nucleotide variant Uncertain significance 16:4852422-4852422 16:4802421-4802421
45 ROGDI NM_024589.2(ROGDI): c.553C> T (p.Pro185Ser) single nucleotide variant Uncertain significance 16:4848164-4848164 16:4798163-4798163
46 ROGDI NM_024589.2(ROGDI): c.336+3G> A single nucleotide variant Uncertain significance 16:4850496-4850496 16:4800495-4800495
47 ROGDI NM_024589.2(ROGDI): c.-89G> T single nucleotide variant Uncertain significance rs538342367 16:4852661-4852661 16:4802660-4802660
48 ROGDI NM_024589.2(ROGDI): c.175G> A (p.Glu59Lys) single nucleotide variant Uncertain significance rs2305659 16:4851529-4851529 16:4801528-4801528
49 ROGDI NM_024589.2(ROGDI): c.822+14G> A single nucleotide variant Uncertain significance rs200558978 16:4847701-4847701 16:4797700-4797700
50 ROGDI NM_024589.2(ROGDI): c.*347G> T single nucleotide variant Uncertain significance rs117730440 16:4847114-4847114 16:4797113-4797113

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 13)
# Name GO ID Score Top Affiliating Genes
1 cytoplasmic vesicle GO:0031410 9.71 SERPINI1 ROGDI PSEN1 APP
2 neuron projection GO:0043005 9.7 PSEN1 MAPT APP
3 membrane raft GO:0045121 9.63 PSEN1 MAPT APP
4 dendrite GO:0030425 9.62 ROGDI PSEN1 MAPT APOE
5 growth cone GO:0030426 9.54 PSEN1 MAPT APP
6 rough endoplasmic reticulum GO:0005791 9.51 PSEN1 APP
7 dendritic shaft GO:0043198 9.48 PSEN1 APP
8 neuronal cell body GO:0043025 9.46 SERPINI1 PSEN1 MAPT APOE
9 smooth endoplasmic reticulum GO:0005790 9.43 PSEN1 APP
10 ciliary rootlet GO:0035253 9.26 PSEN1 APP
11 axon GO:0030424 9.26 ROGDI PSEN1 MAPT APP
12 main axon GO:0044304 8.62 MAPT APP
13 plasma membrane GO:0005886 10.04 TYROBP SLC13A5 ROGDI PSEN1 MAPT APP

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

(show all 27)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of gene expression GO:0010629 9.77 MAPT APP APOE
2 cellular protein metabolic process GO:0044267 9.74 PSEN1 APP APOE
3 response to oxidative stress GO:0006979 9.7 PSEN1 APP APOE
4 forebrain development GO:0030900 9.63 PSEN1 APP
5 positive regulation of protein binding GO:0032092 9.63 PSEN1 APP
6 neurogenesis GO:0022008 9.62 ROGDI PSEN1
7 learning or memory GO:0007611 9.62 PSEN1 APP
8 regulation of synaptic plasticity GO:0048167 9.61 PSEN1 MAPT
9 neuron apoptotic process GO:0051402 9.61 PSEN1 APP
10 cellular response to nerve growth factor stimulus GO:1990090 9.6 MAPT APP
11 cellular response to amyloid-beta GO:1904646 9.58 PSEN1 APP
12 positive regulation of phosphorylation GO:0042327 9.58 PSEN1 APP
13 regulation of protein binding GO:0043393 9.56 PSEN1 APP
14 positive regulation of dendritic spine development GO:0060999 9.55 PSEN1 APOE
15 response to lead ion GO:0010288 9.54 MAPT APP
16 amyloid precursor protein metabolic process GO:0042982 9.51 PSEN1 APOE
17 neuron projection maintenance GO:1990535 9.49 PSEN1 APP
18 negative regulation of long-term synaptic potentiation GO:1900272 9.48 APP APOE
19 amyloid fibril formation GO:1990000 9.46 MAPT APP
20 modulation of age-related behavioral decline GO:0090647 9.43 PSEN1 APP
21 synapse organization GO:0050808 9.43 PSEN1 MAPT APP
22 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.4 PSEN1 APP
23 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.37 PSEN1 APP
24 astrocyte activation involved in immune response GO:0002265 9.32 PSEN1 APP
25 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.16 PSEN1 APP
26 astrocyte activation GO:0048143 9.13 PSEN1 MAPT APP
27 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 identical protein binding GO:0042802 9.26 TYROBP MAPT APP APOE
2 lipoprotein particle binding GO:0071813 8.62 MAPT APOE

Sources for Kohlschutter-Tonz Syndrome

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
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