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KTZS
MCID: KHL003
MIFTS: 65

Kohlschutter-Tonz Syndrome (KTZS)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Oral diseases, Rare diseases, Skin diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
Sources

Aliases & Classifications for Kohlschutter-Tonz Syndrome

About this section

MalaCards integrated aliases for Kohlschutter-Tonz Syndrome:

Name: Kohlschutter-Tonz Syndrome 56 12 58 73 36 13 15
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
Dementia 43 71
Epilepsy, Dementia, and Amelogenesis Imperfecta 56
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:

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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Oral diseases Neuronal diseases Mental diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


Sources

Summaries for Kohlschutter-Tonz Syndrome

About this section
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 semantic dementia and dementia, lewy body, 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 Alzheimers Disease. 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 developmental regression 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.

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 Kohlschütter-Tönz syndrome (KTS), also called Amelo-cerebro-hypohidrotic syndrome is a rare inherited... more...

Sources

Related Diseases for Kohlschutter-Tonz Syndrome

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

(show top 50) (show all 1431)
# Related Disease Score Top Affiliating Genes
1 semantic dementia 34.1 PSEN1 MAPT
2 dementia, lewy body 34.0 PSEN1 MAPT APP
3 vascular dementia 34.0 PSEN1 MAPT APP
4 frontotemporal dementia 33.5 PSEN1 MAPT APP
5 binswanger's disease 33.3 MAPT APP
6 polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 33.2 TYROBP PSEN1 APP
7 pick disease of brain 33.2 PSEN1 MAPT APP
8 cerebral amyloid angiopathy, itm2b-related, 1 33.1 SERPINI1 PSEN1 APP
9 leukoencephalopathy, hereditary diffuse, with spheroids 33.0 TYROBP MAPT APP
10 gerstmann-straussler disease 33.0 PSEN1 MAPT APP
11 encephalopathy, familial, with neuroserpin inclusion bodies 32.9 SERPINI1 CNKSR2
12 prion disease 32.6 PSEN1 MAPT APP
13 cerebral amyloid angiopathy, app-related 32.5 PSEN1 MAPT APP
14 supranuclear palsy, progressive, 1 32.3 PSEN1 MAPT APP
15 progressive non-fluent aphasia 32.2 PSEN1 MAPT
16 fatal familial insomnia 32.2 MAPT APP
17 normal pressure hydrocephalus 32.1 PSEN1 MAPT APP
18 cerebral amyloid angiopathy, cst3-related 32.0 PSEN1 MAPT APP
19 alzheimer disease 9 31.9 PSEN1 MAPT
20 aphasia 31.7 PSEN1 MAPT CNKSR2 APP
21 alzheimer disease 2 31.7 PSEN1 MAPT APP
22 basal ganglia calcification 31.3 TYROBP PSEN1 MAPT APP
23 hydrocephalus 30.9 PSEN1 MAPT APP
24 amnestic disorder 30.7 PSEN1 MAPT APP
25 undetermined early-onset epileptic encephalopathy 30.4 SLC13A5 CNKSR2
26 arteriolosclerosis 30.4 MAPT APP
27 early-onset, autosomal dominant alzheimer disease 30.4 PSEN1 APP
28 amyloidosis 30.2 PSEN1 MAPT APP
29 disease of mental health 30.1 PSEN1 MAPT APP
30 communicating hydrocephalus 30.1 PSEN1 MAPT APP
31 speech and communication disorders 30.1 PSEN1 MAPT APP
32 visual agnosia 30.1 PSEN1 MAPT
33 meningoencephalitis 29.6 PSEN1 APP
34 myositis 29.5 PSEN1 MAPT APP
35 dementia 29.4 TYROBP SERPINI1 PSEN1 MAPT APP
36 central nervous system disease 29.4 PSEN1 MAPT APP
37 toxic encephalopathy 29.3 PSEN1 MAPT APP
38 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 12.7
39 amyotrophic lateral sclerosis-parkinsonism/dementia complex 1 12.6
40 inclusion body myopathy with paget disease of bone and frontotemporal dementia 12.6
41 frontotemporal dementia, chromosome 3-linked 12.6
42 parkinson-dementia syndrome 12.6
43 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 1 12.6
44 amyotrophic lateral sclerosis 14 with or without frontotemporal dementia 12.5
45 frontotemporal dementia and/or amyotrophic lateral sclerosis 2 12.5
46 alzheimer disease 12.5
47 frontotemporal dementia and/or amyotrophic lateral sclerosis 3 12.5
48 frontotemporal dementia and/or amyotrophic lateral sclerosis 4 12.5
49 inclusion body myopathy with early-onset paget disease with or without frontotemporal dementia 3 12.5
50 amyotrophic lateral sclerosis 15 with or without frontotemporal dementia 12.5

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
Sources

Symptoms & Phenotypes for Kohlschutter-Tonz Syndrome

About this section

Human phenotypes related to Kohlschutter-Tonz Syndrome:

58 31 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 developmental regression 58 31 occasional (7.5%) Very frequent (99-80%) HP:0002376
2 eeg abnormality 58 31 hallmark (90%) Very frequent (99-80%) HP:0002353
3 spasticity 58 31 hallmark (90%) Very frequent (99-80%) HP:0001257
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:

56
Neurologic Central Nervous System:
seizures
hypertonia
spasticity
ataxia
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, back pain, angina pectoris, headache, syncope, pain, 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 9.23 APP CNKSR2 MAPT PSEN1 SERPINI1 SLC13A5
Sources

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

About this section

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

(show top 50) (show all 789)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Rasagiline Approved Phase 4 136236-51-6 3052776
2
Methylcobalamin Approved, Investigational Phase 4 13422-55-4
3
Risperidone Approved, Investigational Phase 4 106266-06-2 5073
4
Nimodipine Approved, Investigational Phase 4 66085-59-4 4497
5
Haloperidol Approved Phase 4 52-86-8 3559
6
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569
7
Telmisartan Approved, Investigational Phase 4 144701-48-4 65999
8
Progesterone Approved, Vet_approved Phase 4 57-83-0 5994
9
Ethanol Approved Phase 4 64-17-5 702
10
Clozapine Approved Phase 4 5786-21-0 2818
11
Enalapril Approved, Vet_approved Phase 4 75847-73-3 40466924 5362032
12
Enalaprilat Approved Phase 4 76420-72-9 6917719
13
Levetiracetam Approved Phase 4 102767-28-2 441341
14
Lisinopril Approved, Investigational Phase 4 76547-98-3, 83915-83-7 5362119
15
Candesartan cilexetil Approved Phase 4 145040-37-5 2540
16
Dextroamphetamine Approved, Illicit Phase 4 51-64-9 5826
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
Doxazosin Approved Phase 4 74191-85-8 3157
21
Irbesartan Approved, Investigational Phase 4 138402-11-6 3749
22
Lercanidipine Approved, Investigational Phase 4 100427-26-7 65866
23
Valsartan Approved, Investigational Phase 4 137862-53-4 60846
24
Manidipine Approved, Investigational Phase 4 89226-50-6
25
Ramipril Approved Phase 4 87333-19-5 5362129
26
Atenolol Approved Phase 4 29122-68-7 2249
27
Quinapril Approved, Investigational Phase 4 85441-61-8 54892
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 2180-92-9, 38396-39-3 2474
31
Angiotensin II Approved, Investigational Phase 4 4474-91-3, 11128-99-7, 68521-88-0 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
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
35
Emtricitabine Approved, Investigational Phase 4 143491-57-0 60877
36
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
37
Ibuprofen Approved Phase 4 15687-27-1 3672
38
Formaldehyde Approved, Vet_approved Phase 4 50-00-0 712
39
Mirabegron Approved Phase 4 223673-61-8 9865528
40
Prednisone Approved, Vet_approved Phase 4 53-03-2 5865
41
Pravastatin Approved Phase 4 81093-37-0 54687
42
acetic acid Approved Phase 4 64-19-7 176
43
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
44
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
45
Opium Approved, Illicit Phase 4 8008-60-4
46
Hydrochlorothiazide Approved, Vet_approved Phase 4 58-93-5 3639
47
Clarithromycin Approved Phase 4 81103-11-9 84029
48
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
49
Esomeprazole Approved, Investigational Phase 4 161796-78-7, 119141-88-7, 161973-10-0 9568614 4594
50
Benazepril Approved, Investigational Phase 4 86541-75-5 5362124

Interventional clinical trials:

(show top 50) (show all 3111)
# 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 Cognitive Dysfunction in PD: Pathophysiology and Potential Treatments, a Pilot Study Unknown status NCT01340885 Phase 4 Strattera;Exelon
7 Huperzine-A for Cognitive Dysfunction and Functional Status in Schizophrenia Unknown status NCT01012830 Phase 4 Huperzine A
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 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
17 A 12 Week, Open Label, Efficacy and Safety Study of Desvenlafaxine in the Treatment of Vascular Depression Unknown status NCT01974934 Phase 4 Desvenlafaxine Succinate
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 Efficacy of Pain Treatment on Depression in Patients With Dementia. A Randomized Clinical Trial. Completed NCT02267057 Phase 4 Paracetamol;Buprenorphine;Paracetamol placebo;Buprenorphine placebo
31 An Open Label Study on the Efficacy and Safety of Donepezil Hydrochloride (Aricept) in Vascular Dementia Completed NCT00165763 Phase 4 donepezil hydrochloride (Aricept)
32 Can Oral Vitamin B12 and Folate Supplementation Preserve Cognitive Function of Patients With Early Dementia? Completed NCT00164970 Phase 4
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 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
37 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
38 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
39 Corticolimbic Degeneration and Treatment of Dementia Completed NCT00768261 Phase 4 Memantine (Namenda®);Donepezil (Aricept®)
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 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
43 Donepezil for Dementia in Parkinson's Disease: A Randomized, Double Blinded Placebo Controlled Crossover Trial Completed NCT00030979 Phase 4 Donepezil
44 Escitalopram in the Treatment of Patients With Agitated Dementia Completed NCT00260624 Phase 4 Escitalopram (Lexapro)
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 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
47 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
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 Phase IV-An Open-Label Prospective Study of Memantine in Institutionalized Patients With Severe Alzheimer's Disease and Significant Behavioural and Psychological Symptoms of Dementia Completed NCT00401167 Phase 4 memantine

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: dementia

Sources

Genetic Tests for Kohlschutter-Tonz Syndrome

About this section

Genetic tests related to Kohlschutter-Tonz Syndrome:

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

Anatomical Context for Kohlschutter-Tonz Syndrome

About this section

MalaCards organs/tissues related to Kohlschutter-Tonz Syndrome:

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

Publications for Kohlschutter-Tonz Syndrome

About this section

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. 6 56
23086778 2013
3
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. 6 56
22424600 2012
4
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. 6 56
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. 6 56
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
Sources

Variations for Kohlschutter-Tonz Syndrome

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ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

6 (show top 50) (show all 172) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 ROGDI NM_024589.2(ROGDI):c.506_507dup (p.Glu170fs)duplication Pathogenic 453294 rs786205124 16:4848593-4848594 16:4798592-4798593
2 ROGDI NM_024589.2(ROGDI):c.340C>T (p.Gln114Ter)SNV Pathogenic 461607 rs1555491350 16:4849779-4849779 16:4799778-4799778
3 ROGDI NM_024589.2(ROGDI):c.665dup (p.Ala223fs)duplication Pathogenic 530797 rs1039568775 16:4847968-4847969 16:4797967-4797968
4 ROGDI NC_000016.10:g.(?_4797440)_(4802591_?)deldeletion Pathogenic 583558 16:4847441-4852592 16:4797440-4802591
5 ROGDI NM_024589.2(ROGDI):c.117+1G>ASNV Pathogenic 565630 rs570952151 16:4852382-4852382 16:4802381-4802381
6 ROGDI NM_024589.2(ROGDI):c.302_308dup (p.Glu104fs)duplication Pathogenic 654553 16:4850526-4850527 16:4800525-4800526
7 ROGDI NM_024589.2(ROGDI):c.227_228CT[1] (p.Leu77fs)short repeat Pathogenic 31225 rs764899074 16:4851293-4851294 16:4801292-4801293
8 ROGDI NM_024589.2(ROGDI):c.286C>T (p.Gln96Ter)SNV Pathogenic 31226 rs387907145 16:4850549-4850549 16:4800548-4800548
9 ROGDI NM_024589.2(ROGDI):c.531+5G>CSNV Pathogenic 31227 rs749657986 16:4848565-4848565 16:4798564-4798564
10 ROGDI NM_024589.2(ROGDI):c.532-2A>TSNV Pathogenic 31228 rs786205119 16:4848187-4848187 16:4798186-4798186
11 ROGDI NM_024589.2(ROGDI):c.469C>T (p.Arg157Ter)SNV Pathogenic 31229 rs387907146 16:4848632-4848632 16:4798631-4798631
12 ROGDI NM_024589.2(ROGDI):c.507del (p.Glu170fs)deletion Pathogenic 41465 rs786205124 16:4848594-4848594 16:4798593-4798593
13 ROGDI NM_024589.2(ROGDI):c.45+37_46-30delshort repeat Pathogenic 41466 rs786205125 16:4852484-4852491 16:4802483-4802490
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.378G>C (p.Leu126=)SNV Conflicting interpretations of pathogenicity 461608 rs145588848 16:4849741-4849741 16:4799740-4799740
17 ROGDI NM_024589.2(ROGDI):c.555G>C (p.Pro185=)SNV Conflicting interpretations of pathogenicity 461614 rs771793763 16:4848162-4848162 16:4798161-4798161
18 ROGDI NM_024589.2(ROGDI):c.783C>T (p.Phe261=)SNV Conflicting interpretations of pathogenicity 241507 rs142481526 16:4847754-4847754 16:4797753-4797753
19 ROGDI NM_024589.2(ROGDI):c.243C>T (p.Ala81=)SNV Conflicting interpretations of pathogenicity 241506 rs148051351 16:4851280-4851280 16:4801279-4801279
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.532-4G>ASNV Conflicting interpretations of pathogenicity 319403 rs3747610 16:4848189-4848189 16:4798188-4798188
22 ROGDI NM_024589.2(ROGDI):c.436A>T (p.Met146Leu)SNV Uncertain significance 319405 rs886052037 16:4848665-4848665 16:4798664-4798664
23 ROGDI NM_024589.2(ROGDI):c.-89G>TSNV Uncertain significance 319410 rs538342367 16:4852661-4852661 16:4802660-4802660
24 ROGDI NM_024589.2(ROGDI):c.*451C>GSNV Uncertain significance 319390 rs886052034 16:4847010-4847010 16:4797009-4797009
25 ROGDI NM_024589.2(ROGDI):c.45+9_45+20deldeletion Uncertain significance 41467 rs772340154 16:4852508-4852519 16:4802507-4802518
26 ROGDI NM_024589.2(ROGDI):c.822+14G>ASNV Uncertain significance 319398 rs200558978 16:4847701-4847701 16:4797700-4797700
27 ROGDI NM_024589.2(ROGDI):c.-338C>TSNV Uncertain significance 319415 rs757790008 16:4852910-4852910 16:4802909-4802909
28 ROGDI NM_024589.2(ROGDI):c.-342C>ASNV Uncertain significance 319416 rs886052041 16:4852914-4852914 16:4802913-4802913
29 ROGDI NM_024589.2(ROGDI):c.-69C>TSNV Uncertain significance 319408 rs886052038 16:4852641-4852641 16:4802640-4802640
30 ROGDI NM_024589.2(ROGDI):c.-74A>CSNV Uncertain significance 319409 rs886052039 16:4852646-4852646 16:4802645-4802645
31 ROGDI NM_024589.2(ROGDI):c.-198deldeletion Uncertain significance 319412 rs569838251 16:4852770-4852770 16:4802769-4802769
32 ROGDI NM_024589.2(ROGDI):c.-325G>CSNV Uncertain significance 319414 rs886052040 16:4852897-4852897 16:4802896-4802896
33 ROGDI NM_024589.2(ROGDI):c.*454G>ASNV Uncertain significance 319389 rs540581745 16:4847007-4847007 16:4797006-4797006
34 ROGDI NM_024589.2(ROGDI):c.*355G>TSNV Uncertain significance 319392 rs886052035 16:4847106-4847106 16:4797105-4797105
35 ROGDI NM_024589.2(ROGDI):c.*112C>TSNV Uncertain significance 319397 rs886052036 16:4847349-4847349 16:4797348-4797348
36 ROGDI NM_024589.2(ROGDI):c.-131C>GSNV Uncertain significance 319411 rs186867384 16:4852703-4852703 16:4802702-4802702
37 ROGDI NM_024589.2(ROGDI):c.-379T>CSNV Uncertain significance 319417 rs886052042 16:4852951-4852951 16:4802950-4802950
38 ROGDI NM_024589.2(ROGDI):c.337-7C>GSNV Uncertain significance 641674 16:4849789-4849789 16:4799788-4799788
39 ROGDI NC_000016.9:g.(?_4847441)_(4852592_?)dupduplication Uncertain significance 656288 16:4847441-4852592 16:4797440-4802591
40 ROGDI NM_024589.2(ROGDI):c.645+4A>CSNV Uncertain significance 666041 16:4848068-4848068 16:4798067-4798067
41 ROGDI NM_024589.2(ROGDI):c.645+3G>ASNV Uncertain significance 643055 16:4848069-4848069 16:4798068-4798068
42 ROGDI NM_024589.2(ROGDI):c.260T>G (p.Val87Gly)SNV Uncertain significance 655575 16:4850575-4850575 16:4800574-4800574
43 ROGDI NM_024589.2(ROGDI):c.137C>G (p.Thr46Ser)SNV Uncertain significance 657603 16:4851567-4851567 16:4801566-4801566
44 ROGDI NM_024589.2(ROGDI):c.336+3G>ASNV Uncertain significance 649121 16:4850496-4850496 16:4800495-4800495
45 ROGDI NM_024589.2(ROGDI):c.317A>G (p.Lys106Arg)SNV Uncertain significance 530793 rs545861164 16:4850518-4850518 16:4800517-4800517
46 ROGDI NM_024589.2(ROGDI):c.197G>A (p.Cys66Tyr)SNV Uncertain significance 530790 rs1555491559 16:4851507-4851507 16:4801506-4801506
47 ROGDI NM_024589.2(ROGDI):c.113T>G (p.Leu38Arg)SNV Uncertain significance 530796 rs1555491894 16:4852387-4852387 16:4802386-4802386
48 ROGDI NM_024589.2(ROGDI):c.389G>A (p.Arg130Gln)SNV Uncertain significance 530798 rs374603311 16:4849730-4849730 16:4799729-4799729
49 subset of 23 genes: CREBBP NC_000016.10:g.(?_3727698)_(4802591_?)dupduplication Uncertain significance 831384 16:3777699-4852592
50 ROGDI NM_024589.3(ROGDI):c.725G>C (p.Ser242Thr)SNV Uncertain significance 864591 16:4847812-4847812 16:4797811-4797811
Sources

Expression for Kohlschutter-Tonz Syndrome

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

Pathways for Kohlschutter-Tonz Syndrome

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

# Super pathways Score Top Affiliating Genes
1
Neuroscience 4
11.79 SRCIN1 PSEN1 MAPT APP
2
Alzheimers Disease 1
11.51 PSEN1 MAPT APP
3
Copper homeostasis 1
11.05 MAPT APP
4
A-beta Plaque Formation and APP Metabolism 64
10.62 PSEN1 APP
5
Alzheimers Disease Pathway 63
10.45 PSEN1 MAPT APP
Sources

GO Terms for Kohlschutter-Tonz Syndrome

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

(show all 15)
# Name GO ID Score Top Affiliating Genes
1 cell GO:0005623 9.89 TYROBP ROGDI PSEN1 MAPT APP
2 cell projection GO:0042995 9.88 SRCIN1 ROGDI PSEN1 MAPT APP
3 cytoplasmic vesicle GO:0031410 9.85 SERPINI1 ROGDI PSEN1 APP
4 dendrite GO:0030425 9.73 SRCIN1 ROGDI PSEN1 MAPT
5 membrane raft GO:0045121 9.71 PSEN1 MAPT APP
6 perikaryon GO:0043204 9.63 SERPINI1 ROGDI APP
7 growth cone GO:0030426 9.58 PSEN1 MAPT APP
8 neuron projection GO:0043005 9.55 SRCIN1 PSEN1 MAPT CNKSR2 APP
9 synaptic vesicle GO:0008021 9.54 ROGDI PSEN1 APP
10 dendritic shaft GO:0043198 9.52 PSEN1 APP
11 smooth endoplasmic reticulum GO:0005790 9.51 PSEN1 APP
12 neuronal cell body GO:0043025 9.35 SRCIN1 SERPINI1 PSEN1 MAPT CNKSR2
13 ciliary rootlet GO:0035253 9.32 PSEN1 APP
14 main axon GO:0044304 9.26 MAPT APP
15 axon GO:0030424 9.02 SRCIN1 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 regulation of synaptic plasticity GO:0048167 9.63 PSEN1 MAPT
2 cellular response to amyloid-beta GO:1904646 9.63 PSEN1 APP
3 forebrain development GO:0030900 9.63 TYROBP PSEN1 APP
4 positive regulation of neuron death GO:1901216 9.62 TYROBP MAPT
5 neuron apoptotic process GO:0051402 9.62 PSEN1 APP
6 cellular response to nerve growth factor stimulus GO:1990090 9.61 MAPT APP
7 positive regulation of phosphorylation GO:0042327 9.61 PSEN1 APP
8 microglial cell activation GO:0001774 9.6 MAPT APP
9 negative regulation of protein secretion GO:0050709 9.59 SRCIN1 FRMD4A
10 positive regulation of glycolytic process GO:0045821 9.58 PSEN1 APP
11 regulation of protein binding GO:0043393 9.58 PSEN1 APP
12 synapse organization GO:0050808 9.58 PSEN1 MAPT APP
13 response to lead ion GO:0010288 9.57 MAPT APP
14 positive regulation of superoxide anion generation GO:0032930 9.56 TYROBP MAPT
15 positive regulation of interleukin-6 biosynthetic process GO:0045410 9.55 TYROBP APP
16 negative regulation of long-term synaptic potentiation GO:1900272 9.54 TYROBP APP
17 amyloid fibril formation GO:1990000 9.52 MAPT APP
18 neuron projection maintenance GO:1990535 9.51 PSEN1 APP
19 modulation of age-related behavioral decline GO:0090647 9.49 PSEN1 APP
20 positive regulation of interleukin-1 beta biosynthetic process GO:0050725 9.48 TYROBP APP
21 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.43 PSEN1 APP
22 positive regulation of amyloid fibril formation GO:1905908 9.37 PSEN1 APP
23 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.32 PSEN1 APP
24 astrocyte activation involved in immune response GO:0002265 9.26 PSEN1 APP
25 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.16 PSEN1 APP
26 positive regulation of tumor necrosis factor biosynthetic process GO:0042535 9.13 TYROBP PSEN1 APP
27 astrocyte activation GO:0048143 8.8 PSEN1 MAPT APP

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

# Name GO ID Score Top Affiliating Genes
1 growth factor receptor binding GO:0070851 8.62 PSEN1 APP
Sources

Sources for Kohlschutter-Tonz Syndrome

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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