KTZS
MCID: KHL003
MIFTS: 59

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 12 58 73 36 13 15
Kohlschutter Tonz Syndrome 20 44 71
Epilepsy and Yellow Teeth 57 12 20
Kohlschutter's Syndrome 12 29 6
Ktzs 57 12 73
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome 12 58
Epilepsy Dementia Amelogenesis Imperfecta 12 20
Amelocerebrohypohidrotic Syndrome 12 58
Kohlschütter-Tönz Syndrome 74 39
Kohlschutter Syndrome 57 20
Dementia 44 71
Epilepsy, Dementia, and Amelogenesis Imperfecta 57
Kohlschuetter-Toenz Syndrome 73
Presenile 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®:

57 (Updated 05-Mar-2021)
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® : 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) (Updated 05-Mar-2021)

MalaCards based summary : Kohlschutter-Tonz Syndrome, also known as kohlschutter tonz syndrome, is related to dementia and frontotemporal dementia, and has symptoms including seizures, ataxia and tremor. An important gene associated with Kohlschutter-Tonz Syndrome is ROGDI (Rogdi Atypical Leucine Zipper). The drugs Huperzine A and Racepinephrine have been mentioned in the context of this disorder. Affiliated tissues include brain, eye and liver, and related phenotypes are spasticity and eeg abnormality

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.

GARD : 20 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 : 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 Kohlschütter-Tönz 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 1418)
# Related Disease Score Top Affiliating Genes
1 dementia 12.1
2 frontotemporal dementia 11.9
3 dementia, lewy body 11.9
4 vascular dementia 11.8
5 alzheimer disease 11.7
6 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 11.7
7 inclusion body myopathy with paget disease of bone and frontotemporal dementia 11.6
8 frontotemporal lobar degeneration with tdp43 inclusions, grn-related 11.6
9 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 11.6
10 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 11.6
11 semantic dementia 11.6
12 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 11.6
13 pick disease of brain 11.6
14 cerebral amyloid angiopathy, itm2b-related, 2 11.5
15 cerebral amyloid angiopathy, itm2b-related, 1 11.5
16 cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 11.5
17 binswanger's disease 11.5
18 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 11.5
19 amyotrophic lateral sclerosis 1 11.5
20 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 11.4
21 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 11.4
22 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 11.4
23 gerstmann-straussler disease 11.4
24 frontotemporal dementia and/or amyotrophic lateral sclerosis 6 11.4
25 leukoencephalopathy, hereditary diffuse, with spheroids 11.4
26 hereditary sensory and autonomic neuropathy type 1 11.4
27 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 11.4
28 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 11.4
29 parkinson-dementia syndrome 11.4
30 frontotemporal dementia with parkinsonism-17 11.4
31 kufor-rakeb syndrome 11.3
32 aids dementia complex 11.3
33 mild cognitive impairment 11.3
34 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 2 11.3
35 amyotrophic lateral sclerosis, juvenile, with dementia 11.3
36 neuropathy, hereditary sensory, type ie 11.3
37 dementia - subcortical 11.3
38 spinocerebellar ataxia, x-linked 4 11.3
39 mohr-tranebjaerg syndrome 11.3
40 amyotrophic lateral sclerosis 22 with or without frontotemporal dementia 11.3
41 creutzfeldt-jakob disease 11.3
42 dentatorubral-pallidoluysian atrophy 11.3
43 encephalopathy, familial, with neuroserpin inclusion bodies 11.3
44 amyotrophic lateral sclerosis 6 with or without frontotemporal dementia 11.3
45 parkinson disease, late-onset 11.3
46 parkinsonism 11.3
47 frontotemporal dementia and/or amyotrophic lateral sclerosis 8 11.2
48 dementia pugilistica 11.2
49 supranuclear palsy, progressive, 1 11.2
50 grn-related frontotemporal lobar degeneration 11.2

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 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 developmental regression 58 31 occasional (7.5%) Very frequent (99-80%) HP:0002376
4 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
5 dementia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000726
6 yellow-brown discoloration of the teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006286
7 amelogenesis imperfecta 58 31 hallmark (90%) Very frequent (99-80%) HP:0000705
8 seizure 31 hallmark (90%) HP:0001250
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 seizures 58 Very frequent (99-80%)
15 ataxia 31 HP:0001251
16 abnormality of dental enamel 58 Very frequent (99-80%)
17 ventriculomegaly 31 HP:0002119
18 mental deterioration 58 Very frequent (99-80%)
19 cerebellar hypoplasia 31 HP:0001321
20 abnormality of dental color 58 Very frequent (99-80%)
21 cerebral atrophy 31 HP:0002059
22 hypoplasia of dental enamel 31 HP:0006297
23 hypsarrhythmia 31 HP:0002521
24 epileptic encephalopathy 31 HP:0200134

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
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 (Updated 05-Mar-2021)

UMLS symptoms related to Kohlschutter-Tonz Syndrome:


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

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

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

(show top 50) (show all 491)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Huperzine A Approved, Experimental Phase 4 102518-79-6
2
Racepinephrine Approved Phase 4 329-65-7 838
3
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
4
Epinephrine Approved, Vet_approved Phase 4 51-43-4 5816
5
Citalopram Approved Phase 4 59729-33-8 2771
6
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
7
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
8
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
9
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
10
Acetaminophen Approved Phase 4 103-90-2 1983
11
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
12
Cilostazol Approved, Investigational Phase 4 73963-72-1 2754
13
Sertraline Approved Phase 4 79617-96-2 68617
14
Modafinil Approved, Investigational Phase 4 68693-11-8 4236
15
Buprenorphine Approved, Illicit, Investigational, Vet_approved Phase 4 52485-79-7 40400 644073
16
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
17
Norepinephrine Approved Phase 4 51-41-2 439260
18
Rivastigmine Approved, Investigational Phase 4 123441-03-2 77991
19
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
20
Lithium carbonate Approved Phase 4 554-13-2
21
Warfarin Approved Phase 4 81-81-2 6691 54678486
22
Vortioxetine Approved, Investigational Phase 4 508233-74-7 9966051
23
Zoledronic Acid Approved Phase 4 118072-93-8 68740
24
Donepezil Approved Phase 4 120014-06-4 3152
25
Prazosin Approved Phase 4 19216-56-9 4893
26
Iodine Approved, Investigational Phase 4 7553-56-2 807
27
Apixaban Approved Phase 4 503612-47-3 10182969
28
Edoxaban Approved Phase 4 480449-70-5
29
Rivaroxaban Approved Phase 4 366789-02-8
30
Memantine Approved, Investigational Phase 4 19982-08-2 4054
31
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
32
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
33
Cobicistat Approved Phase 4 1004316-88-4
34
Choline Approved, Nutraceutical Phase 4 62-49-7 305
35
Vitamin A Approved, Nutraceutical, Vet_approved Phase 4 68-26-8, 11103-57-4 445354
36
Cadexomer iodine Experimental Phase 4 94820-09-4
37
Dabigatran Investigational Phase 4 211914-51-1
38 Pharmaceutical Solutions Phase 4
39 Vasoconstrictor Agents Phase 4
40 Epinephryl borate Phase 4
41 Atomoxetine Hydrochloride Phase 4
42 Gastrointestinal Agents Phase 4
43 Ginkgo Phase 4
44 Hematinics Phase 4
45 Acetaminophen, hydrocodone drug combination Phase 4
46 Antitussive Agents Phase 4
47 Chlorpheniramine, phenylpropanolamine drug combination Phase 4
48 Opiate Alkaloids Phase 4
49 Phosphodiesterase Inhibitors Phase 4
50 Cerebrolysin Phase 4

Interventional clinical trials:

(show top 50) (show all 1588)
# 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 Treatment With Acetyl-Choline Esterase Inhibitors in Children With Autism Unknown status NCT01098383 Phase 4 Acetyl-Choline Esterase Inhibitors and Choline supplements;Indistinguishable placebo tablets, matching both donepezil and choline
3 Pragmatic Randomized Control Trial of Memantine For Agitation In Dementia Unknown status NCT00371059 Phase 4 Memantine;Placebo
4 Effect of the Stage Specific Cognitive Intervention Program on Functional Cortical Activation in Alzheimer's Disease Unknown status NCT01329601 Phase 4
5 Phase IV Study of General Clinical Research Center Of the Jinan Mental Hospital(TAIWAN) Unknown status NCT00626613 Phase 4 Risperdal,reminyl
6 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
7 Dopaminergic Enhancement of Learning and Memory (LL_001, Project on Dementia/MCI) Unknown status NCT00306124 Phase 4 Levodopa
8 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
9 Huperzine-A for Cognitive Dysfunction and Functional Status in Schizophrenia Unknown status NCT01012830 Phase 4 Huperzine A
10 Study of Nasal Brushing Collected OLFActory MUcosa Samples in the Diagnosis of Human Encephalopathies Unknown status NCT02951559 Phase 4
11 Cognitive Dysfunction in PD: Pathophysiology and Potential Treatments, a Pilot Study Completed NCT01340885 Phase 4 Strattera;Exelon
12 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
13 Preventing Post-Operative Cognitive Decline Completed NCT00182845 Phase 4 Donepezil
14 Study of the Effects of Current Drug Treatments on Levels of Certain Brain Chemicals in Alzheimer's Disease Completed NCT00104442 Phase 4 Rivastigmine
15 A Single-site Positron Emission Tomography (PET) Study of the Cerebral Metabolic Effects of AC-1202 (Axona®) Treatment in Mild-to-Moderate Alzheimer's Disease (AD) Completed NCT01122329 Phase 4
16 Escitalopram in the Treatment of Patients With Agitated Dementia Completed NCT00260624 Phase 4 Escitalopram (Lexapro)
17 Memantine and Comprehensive, Individualized, Patient Centered Management of Alzheimer's Disease: A Randomized Controlled Trial Completed NCT00120874 Phase 4 Memantine
18 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
19 Serotonergic Function and Behavioural and Psychological Symptoms of Frontotemporal Dementia Completed NCT00376051 Phase 4 Citalopram
20 A Randomized Placebo-controlled Trial Evaluating the Effect of Melatonin on Sleep Quality in Patients With Dementia Completed NCT03066518 Phase 4 Melatonin 5 mg
21 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
22 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
23 An Open Label Study on the Efficacy and Safety of Donepezil Hydrochloride (Aricept) in Vascular Dementia Completed NCT00165763 Phase 4 donepezil hydrochloride (Aricept)
24 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
25 Cilostazol Verse Asprin for Vascular Dementia in Poststroke Patients With White Completed NCT00847860 Phase 4 Cilostazol;Aspirin
26 A Phase IV Randomized, Double-Blind, Placebo-Controlled, Crossover Single Site Study Of Exelon® Patch (Rivastigmine Transdermal System) For Mild Cognitive Impairment In Parkinson's Disease Completed NCT01519271 Phase 4 Exelon Patch (rivastigmine transdermal system);Placebo Patches
27 Pilot Study to Evaluate Effects of Atorvastatin on Monocyte Activation in HAART-treated HIV Infected Individuals Completed NCT01263938 Phase 4 Atorvastatin
28 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
29 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
30 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
31 An Open Label, Single-Center Pilot Study of Armodafinil in Patients With Dementia With Lewy Bodies Completed NCT01023672 Phase 4 Armodafinil
32 The Role of Methycobalamin in Early Dementia Patients With Vitamin B12 Deficiency and Hyperhomocysteinaemia. Completed NCT00165711 Phase 4 Mecobalamin
33 Can Oral Vitamin B12 and Folate Supplementation Preserve Cognitive Function of Patients With Early Dementia? Completed NCT00164970 Phase 4
34 The Role of the Dopaminergic Brain Reward System in Apathy Associated With Alzheimer's Disease Completed NCT00254033 Phase 4 Dextroamphetamine;Methylphenidate
35 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
36 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)
37 Corticolimbic Degeneration and Treatment of Dementia Completed NCT00768261 Phase 4 Memantine (Namenda®);Donepezil (Aricept®)
38 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
39 Study on the Efficacy of Speed-Feedback Therapy for Elderly People With Dementia: a Randomized Controlled Trial Completed NCT00450047 Phase 4
40 Treatment of Agitation/Psychosis in Dementia/Parkinsonism (TAP/DAP) Completed NCT00043849 Phase 4 Quetiapine
41 Statin Modulation of Monocyte/Macrophage Activation for HAND Treatment Completed NCT01600170 Phase 4 Atorvastatin (generic Lipitor);placebo
42 The Effects of the Rivastigmine Patch on Attention and Behavior in Parkinson's Disease With Dementia (PDD) Completed NCT00988117 Phase 4 Rivastigmine Patch 9.5 cm2
43 Memantine Versus Donepezil in Mild to Moderate Alzheimer's Disease. A Randomized Trial With Magnetic Resonance Spectroscopy. Completed NCT00505167 Phase 4 Memantine;Donepezil
44 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
45 A Post-Marketing Clinical Study of Aricept in Patients With Dementia With Lewy Bodies (DLB) Completed NCT02345213 Phase 4 E2020;Placebo
46 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
47 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®)
48 A Randomized, Double-blind, Placebo-controlled Phase IV Trial for an Evaluation of the Efficacy of Gliatiline® on Post-stroke Patients With Vascular Cognitive Impairment no Dementia Completed NCT01363648 Phase 4 choline alfoscerate;placebo (for choline alphoscerate)
49 Competence Network - Dementia (BMBF) "Pharmacological and Psychosocial Treatment" (Modul E.2) Part II: The Efficacy of a Combination Regimen in Patients With Mild to Moderate Probable Alzheimer's Disease Completed NCT01921972 Phase 4 Galantamine CR;Memantine;Placebo
50 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

Search NIH Clinical Center for Kohlschutter-Tonz Syndrome

Inferred drug relations via UMLS 71 / NDF-RT 51 :


Citalopram
Citalopram hydrobromide
Prochlorperazine
Prochlorperazine Edisylate Salt
Prochlorperazine Maleate
Risperidone

Cochrane evidence based reviews: dementia

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, Eye, Liver, Cortex, Retina, Skin, Bone

Publications for Kohlschutter-Tonz Syndrome

Articles related to Kohlschutter-Tonz Syndrome:

(show all 18)
# Title Authors PMID Year
1
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. 61 6 57
22482807 2012
2
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. 6 57
23086778 2013
3
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 6 57
22424600 2012
4
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. 6 57
16411202 2006
5
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome. 57 6
7625549 1995
6
Kohlschütter syndrome: syndrome of epilepsy--dementia--amelogenesis imperfecta. 57 6
8133980 1993
7
A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. 6 57
3236364 1988
8
Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia. 6 57
4372200 1974
9
Disrupted in Schizophrenia 1 Interactome: evidence for the close connectivity of risk genes and a potential synaptic basis for schizophrenia. 57
17043677 2007
10
Kohlschutter syndrome in siblings. 57
15930900 2005
11
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? 57
8160757 1994
12
Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta. 57
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

Variations for Kohlschutter-Tonz Syndrome

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

6 (show top 50) (show all 196)
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ROGDI NM_024589.2(ROGDI):c.227_228CT[1] (p.Leu77fs) Microsatellite 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>C SNV Pathogenic 31227 rs749657986 16:4848565-4848565 16:4798564-4798564
4 ROGDI NM_024589.2(ROGDI):c.532-2A>T SNV 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.340C>T (p.Gln114Ter) SNV Pathogenic 461607 rs1555491350 16:4849779-4849779 16:4799778-4799778
8 ROGDI NM_024589.2(ROGDI):c.665dup (p.Ala223fs) Duplication Pathogenic 530797 rs1039568775 16:4847968-4847969 16:4797967-4797968
9 ROGDI NM_024589.2(ROGDI):c.117+1G>A SNV Pathogenic 565630 rs570952151 16:4852382-4852382 16:4802381-4802381
10 ROGDI NM_024589.2(ROGDI):c.302_308dup (p.Glu104fs) Duplication Pathogenic 654553 rs1596277148 16:4850526-4850527 16:4800525-4800526
11 ROGDI NM_024589.2(ROGDI):c.506_507dup (p.Glu170fs) Duplication Pathogenic 453294 rs786205124 16:4848593-4848594 16:4798592-4798593
12 ROGDI NM_024589.2(ROGDI):c.334C>T (p.Gln112Ter) SNV Pathogenic 504177 rs372097881 16:4850501-4850501 16:4800500-4800500
13 ROGDI NM_024589.3(ROGDI):c.715_718del (p.Leu239fs) Deletion Pathogenic 946794 16:4847819-4847822 16:4797818-4797821
14 ROGDI NC_000016.10:g.(?_4797440)_(4802591_?)del Deletion Pathogenic 583558 16:4847441-4852592 16:4797440-4802591
15 ROGDI NM_024589.2(ROGDI):c.45+37_46-30del Microsatellite Pathogenic 41466 rs786205125 16:4852484-4852491 16:4802483-4802490
16 ROGDI NM_024589.2(ROGDI):c.45+9_45+20del Deletion Likely pathogenic 41467 rs772340154 16:4852508-4852519 16:4802507-4802518
17 ROGDI NM_024589.3(ROGDI):c.201-1G>C SNV Likely pathogenic 961208 16:4851323-4851323 16:4801322-4801322
18 ROGDI NM_024589.3(ROGDI):c.329_336+5del Deletion Likely pathogenic 967389 16:4850494-4850506 16:4800493-4800505
19 ROGDI NM_024589.2(ROGDI):c.645+2T>A SNV Likely pathogenic 654474 rs754417953 16:4848070-4848070 16:4798069-4798069
20 ROGDI NC_000016.10:g.4799684_4799685insC Duplication Likely pathogenic 930998 16:4849685-4849686 16:4799684-4799685
21 ROGDI NM_024589.3(ROGDI):c.117+1G>T SNV Likely pathogenic 947711 16:4852382-4852382 16:4802381-4802381
22 ROGDI NM_024589.2(ROGDI):c.118-2A>G SNV Likely pathogenic 410627 rs1060502981 16:4851588-4851588 16:4801587-4801587
23 ROGDI NM_024589.2(ROGDI):c.555G>C (p.Pro185=) SNV Conflicting interpretations of pathogenicity 461614 rs771793763 16:4848162-4848162 16:4798161-4798161
24 ROGDI NM_024589.2(ROGDI):c.378G>C (p.Leu126=) SNV Conflicting interpretations of pathogenicity 461608 rs145588848 16:4849741-4849741 16:4799740-4799740
25 ROGDI NM_024589.2(ROGDI):c.243C>T (p.Ala81=) SNV Conflicting interpretations of pathogenicity 241506 rs148051351 16:4851280-4851280 16:4801279-4801279
26 ROGDI NM_024589.2(ROGDI):c.783C>T (p.Phe261=) SNV Conflicting interpretations of pathogenicity 241507 rs142481526 16:4847754-4847754 16:4797753-4797753
27 ROGDI NM_024589.2(ROGDI):c.567G>A (p.Leu189=) SNV Conflicting interpretations of pathogenicity 319402 rs143000899 16:4848150-4848150 16:4798149-4798149
28 ROGDI NM_024589.2(ROGDI):c.532-4G>A SNV Conflicting interpretations of pathogenicity 319403 rs3747610 16:4848189-4848189 16:4798188-4798188
29 ROGDI NM_024589.2(ROGDI):c.-89G>T SNV Uncertain significance 319410 rs538342367 16:4852661-4852661 16:4802660-4802660
30 ROGDI NM_024589.2(ROGDI):c.*112C>T SNV Uncertain significance 319397 rs886052036 16:4847349-4847349 16:4797348-4797348
31 ROGDI NM_024589.2(ROGDI):c.-69C>T SNV Uncertain significance 319408 rs886052038 16:4852641-4852641 16:4802640-4802640
32 ROGDI NM_024589.2(ROGDI):c.-325G>C SNV Uncertain significance 319414 rs886052040 16:4852897-4852897 16:4802896-4802896
33 ROGDI NM_024589.2(ROGDI):c.-131C>G SNV Uncertain significance 319411 rs186867384 16:4852703-4852703 16:4802702-4802702
34 ROGDI NM_024589.2(ROGDI):c.-379T>C SNV Uncertain significance 319417 rs886052042 16:4852951-4852951 16:4802950-4802950
35 ROGDI NM_024589.2(ROGDI):c.-342C>A SNV Uncertain significance 319416 rs886052041 16:4852914-4852914 16:4802913-4802913
36 ROGDI NM_024589.2(ROGDI):c.*355G>T SNV Uncertain significance 319392 rs886052035 16:4847106-4847106 16:4797105-4797105
37 ROGDI NM_024589.2(ROGDI):c.*454G>A SNV Uncertain significance 319389 rs540581745 16:4847007-4847007 16:4797006-4797006
38 ROGDI NM_024589.2(ROGDI):c.436A>T (p.Met146Leu) SNV Uncertain significance 319405 rs886052037 16:4848665-4848665 16:4798664-4798664
39 ROGDI NM_024589.2(ROGDI):c.*451C>G SNV Uncertain significance 319390 rs886052034 16:4847010-4847010 16:4797009-4797009
40 ROGDI NM_024589.2(ROGDI):c.822+14G>A SNV Uncertain significance 319398 rs200558978 16:4847701-4847701 16:4797700-4797700
41 ROGDI NM_024589.2(ROGDI):c.-74A>C SNV Uncertain significance 319409 rs886052039 16:4852646-4852646 16:4802645-4802645
42 ROGDI NM_024589.2(ROGDI):c.-198del Deletion Uncertain significance 319412 rs569838251 16:4852770-4852770 16:4802769-4802769
43 ROGDI NM_024589.2(ROGDI):c.-338C>T SNV Uncertain significance 319415 rs757790008 16:4852910-4852910 16:4802909-4802909
44 ROGDI NM_024589.2(ROGDI):c.530C>T (p.Thr177Met) SNV Uncertain significance 461613 rs571018862 16:4848571-4848571 16:4798570-4798570
45 ROGDI NM_024589.2(ROGDI):c.578A>C (p.Tyr193Ser) SNV Uncertain significance 461615 rs80033521 16:4848139-4848139 16:4798138-4798138
46 ROGDI NM_024589.2(ROGDI):c.389G>A (p.Arg130Gln) SNV Uncertain significance 530798 rs374603311 16:4849730-4849730 16:4799729-4799729
47 ROGDI NM_024589.2(ROGDI):c.388C>T (p.Arg130Trp) SNV Uncertain significance 530799 rs758414235 16:4849731-4849731 16:4799730-4799730
48 ROGDI NM_024589.2(ROGDI):c.851A>G (p.Tyr284Cys) SNV Uncertain significance 461619 rs370584122 16:4847474-4847474 16:4797473-4797473
49 ROGDI NM_024589.2(ROGDI):c.319C>G (p.Gln107Glu) SNV Uncertain significance 522749 rs1211419981 16:4850516-4850516 16:4800515-4800515
50 ROGDI NM_024589.2(ROGDI):c.49G>A (p.Glu17Lys) SNV Uncertain significance 530789 rs745342114 16:4852451-4852451 16:4802450-4802450

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:

# Name GO ID Score Top Affiliating Genes
1 neuronal cell body GO:0043025 9.33 SRCIN1 SH3GL2 CNKSR2
2 presynapse GO:0098793 9.13 SRCIN1 SH3GL2 ROGDI
3 cell junction GO:0030054 9.02 SRCIN1 SORBS3 SH3GL2 ROGDI FRMD4A

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

# Name GO ID Score Top Affiliating Genes
1 negative regulation of protein secretion GO:0050709 8.62 SRCIN1 FRMD4A

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

# Name GO ID Score Top Affiliating Genes
1 protein kinase binding GO:0019901 8.8 SRCIN1 SH3GL2 CNKSR2

Sources for Kohlschutter-Tonz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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