KTZS
MCID: KHL003
MIFTS: 52

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 58 60 76 38 13
Kohlschütter-Tönz Syndrome 77 41
Kohlschutter Tonz Syndrome 54 74
Epilepsy and Yellow Teeth 58 54
Kohlschutter's Syndrome 30 6
Kohlschutter Syndrome 58 54
Ktzs 58 76
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome 60
Epilepsy, Dementia, and Amelogenesis Imperfecta 58
Epilepsy Dementia Amelogenesis Imperfecta 54
Amelocerebrohypohidrotic Syndrome 60
Kohlschuetter-Toenz Syndrome 76
Presenile Dementia 74
Dementia 74

Characteristics:

Orphanet epidemiological data:

60
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:

58
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:

33
kohlschutter-tonz syndrome:
Onset and clinical course variable expressivity
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Kohlschutter-Tonz Syndrome

OMIM : 58 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 epileptic encephalopathy, early infantile, 25, with 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). Affiliated tissues include skin and brain, and related phenotypes are seizures and spasticity

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1946Disease definitionKohlschütter-Tönz 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.

UniProtKB/Swiss-Prot : 76 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 : 77 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 51)
# Related Disease Score Top Affiliating Genes
1 dementia 28.7 APOE APP MAPT PSEN1 SERPINI1 TYROBP
2 epileptic encephalopathy, early infantile, 25, with amelogenesis imperfecta 10.4
3 seizure disorder 10.4
4 encephalopathy 10.4
5 amelogenesis imperfecta 10.4
6 simultanagnosia 10.1 APOE MAPT
7 posterior cortical atrophy 10.1 APOE MAPT
8 apraxia 10.1 MAPT PSEN1
9 nominal aphasia 10.0 MAPT PSEN1
10 communicating hydrocephalus 10.0 APOE MAPT
11 progressive non-fluent aphasia 10.0 MAPT PSEN1
12 epilepsy 10.0
13 hydrocephalus, normal-pressure 10.0 APOE MAPT
14 behavioral variant of frontotemporal dementia 10.0 MAPT PSEN1
15 echolalia 10.0 MAPT PSEN1
16 brain injury 10.0 APOE MAPT
17 alzheimer disease 4 10.0 APOE PSEN1
18 alexia 10.0 APOE PSEN1
19 agraphia 9.9 MAPT PSEN1
20 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 MAPT PSEN1
21 senile plaque formation 9.9 APOE APP
22 alzheimer's disease 1 9.9 APOE APP
23 cerebral amyloid angiopathy, itm2b-related, 1 9.8 APP SERPINI1
24 early-onset, autosomal dominant alzheimer disease 9.8 APP PSEN1
25 hemorrhage, intracerebral 9.8 APOE APP
26 semantic dementia 9.8 APOE MAPT PSEN1
27 speech and communication disorders 9.7 APOE MAPT PSEN1
28 prion disease 9.7 APP MAPT
29 alzheimer disease mitochondrial 9.6 APOE APP MAPT
30 binswanger's disease 9.6 APOE APP MAPT
31 supranuclear palsy, progressive, 1 9.6 APOE APP MAPT
32 inclusion body myositis 9.6 APOE APP MAPT
33 cerebrovascular disease 9.6 APOE APP MAPT
34 kluver-bucy syndrome 9.6 APP MAPT PSEN1
35 hydrocephalus 9.6 APOE APP MAPT
36 gait apraxia 9.6 APOE APP PSEN1
37 leukoencephalopathy, hereditary diffuse, with spheroids 9.5 APP MAPT
38 amyloidosis 9.5 APOE APP PSEN1
39 amyotrophic lateral sclerosis 1 9.4 APP MAPT PSEN1
40 parkinson disease, late-onset 9.4 APOE APP MAPT
41 alzheimer disease 9.3 APOE APP MAPT PSEN1
42 alzheimer disease 2 9.3 APOE APP MAPT PSEN1
43 aphasia 9.3 APOE APP MAPT PSEN1
44 pick disease of brain 9.3 APOE APP MAPT PSEN1
45 cerebral amyloid angiopathy, cst3-related 9.3 APOE APP MAPT PSEN1
46 vascular dementia 9.3 APOE APP MAPT PSEN1
47 dementia, lewy body 9.3 APOE APP MAPT PSEN1
48 disease of mental health 9.3 APOE APP MAPT PSEN1
49 nervous system disease 9.3 APOE APP MAPT PSEN1
50 central nervous system disease 9.3 APOE APP MAPT PSEN1

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:

60 33 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 60 33 hallmark (90%) Very frequent (99-80%) HP:0001250
2 spasticity 60 33 hallmark (90%) Very frequent (99-80%) HP:0001257
3 eeg abnormality 60 33 hallmark (90%) Very frequent (99-80%) HP:0002353
4 developmental regression 60 33 occasional (7.5%) Very frequent (99-80%) HP:0002376
5 intellectual disability, severe 60 33 hallmark (90%) Very frequent (99-80%) HP:0010864
6 dementia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000726
7 amelogenesis imperfecta 60 33 hallmark (90%) Very frequent (99-80%) HP:0000705
8 yellow-brown discoloration of the teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0006286
9 hypohidrosis 60 33 frequent (33%) Frequent (79-30%) HP:0000966
10 hydrocephalus 60 33 occasional (7.5%) Occasional (29-5%) HP:0000238
11 short stature 60 33 occasional (7.5%) Occasional (29-5%) HP:0004322
12 global developmental delay 33 occasional (7.5%) HP:0001263
13 intellectual disability 33 HP:0001249
14 ataxia 33 HP:0001251
15 ventriculomegaly 33 HP:0002119
16 cerebellar hypoplasia 33 HP:0001321
17 epileptic encephalopathy 33 HP:0200134
18 mental deterioration 60 Very frequent (99-80%)
19 hypsarrhythmia 33 HP:0002521
20 abnormality of dental enamel 60 Very frequent (99-80%)
21 abnormality of dental color 60 Very frequent (99-80%)
22 cerebral atrophy 33 HP:0002059
23 hypoplasia of dental enamel 33 HP:0006297

Symptoms via clinical synopsis from OMIM:

58
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:

47
# 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

Genetic Tests for Kohlschutter-Tonz Syndrome

Genetic tests related to Kohlschutter-Tonz Syndrome:

# Genetic test Affiliating Genes
1 Kohlschutter's Syndrome 30 ROGDI

Anatomical Context for Kohlschutter-Tonz Syndrome

MalaCards organs/tissues related to Kohlschutter-Tonz Syndrome:

42
Skin, Brain

Publications for Kohlschutter-Tonz Syndrome

Articles related to Kohlschutter-Tonz Syndrome:

(show all 20)
# Title Authors Year
1
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. ( 29153277 )
2018
2
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. ( 27600704 )
2017
3
The crystal structure of human Rogdi provides insight into the causes of Kohlschutter-Tönz Syndrome. ( 28638151 )
2017
4
Seizures, enamel defects and psychomotor developmental delay: The first patient with Kohlschütter-Tönz syndrome caused by a ROGDI-gene deletion. ( 28651123 )
2017
5
The Kohlschütter-Tönz syndrome associated gene Rogdi encodes a novel presynaptic protein. ( 29150638 )
2017
6
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel. ( 24630287 )
2014
7
Kohlschütter-Tönz syndrome in siblings without ROGDI mutation. ( 25284547 )
2014
8
A Novel Mutation in the ROGDI Gene in a Patient with Kohlschütter-Tönz Syndrome. ( 25565929 )
2014
9
Kohlschütter-Tönz syndrome: mutations in ROGDI and evidence of genetic heterogeneity. ( 23086778 )
2013
10
Kohlschütter-Tönz Syndrome - Report of an additional case. ( 24455057 )
2013
11
Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter-Tönz syndrome. ( 22522085 )
2012
12
Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome. ( 22424600 )
2012
13
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. ( 22482807 )
2012
14
Yellow teeth, seizures, and mental retardation: a less severe case of Kohlschütter-Tönz syndrome. ( 16411202 )
2006
15
A further family with epilepsy, dementia and yellow teeth: the Kohlschütter syndrome. ( 7625549 )
1995
16
Ataxia, mental deterioration, epilepsy in a family with dominant enamel hypoplasia: a variant of Kohlschütter-Tönz syndrome? ( 8160757 )
1994
17
Kohlschütter syndrome: syndrome of epilepsy--dementia--amelogenesis imperfecta. ( 8133980 )
1993
18
Kohlschütter-Tönz syndrome: epilepsy, dementia, and amelogenesis imperfecta. ( 8357021 )
1993
19
A syndrome of epilepsy, dementia, and amelogenesis imperfecta: genetic and clinical features. ( 3236364 )
1988
20
Familial epilepsy and yellow teeth--a disease of the CNS associated with enamel hypoplasia. ( 4372200 )
1974

Variations for Kohlschutter-Tonz Syndrome

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

6 (show top 50) (show all 222)
# Gene Variation Type Significance SNP ID Assembly Location
1 ROGDI NM_024589.2(ROGDI): c.229_230delCT (p.Leu77Alafs) deletion Pathogenic rs764899074 GRCh38 Chromosome 16, 4801292: 4801293
2 ROGDI NM_024589.2(ROGDI): c.229_230delCT (p.Leu77Alafs) deletion Pathogenic rs764899074 GRCh37 Chromosome 16, 4851293: 4851294
3 ROGDI NM_024589.2(ROGDI): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs387907145 GRCh37 Chromosome 16, 4850549: 4850549
4 ROGDI NM_024589.2(ROGDI): c.286C> T (p.Gln96Ter) single nucleotide variant Pathogenic rs387907145 GRCh38 Chromosome 16, 4800548: 4800548
5 ROGDI NM_024589.2(ROGDI): c.531+5G> C single nucleotide variant Pathogenic rs749657986 GRCh38 Chromosome 16, 4798564: 4798564
6 ROGDI NM_024589.2(ROGDI): c.531+5G> C single nucleotide variant Pathogenic rs749657986 GRCh37 Chromosome 16, 4848565: 4848565
7 ROGDI NM_024589.2(ROGDI): c.532-2A> T single nucleotide variant Pathogenic rs786205119 GRCh38 Chromosome 16, 4798186: 4798186
8 ROGDI NM_024589.2(ROGDI): c.532-2A> T single nucleotide variant Pathogenic rs786205119 GRCh37 Chromosome 16, 4848187: 4848187
9 ROGDI NM_024589.2(ROGDI): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907146 GRCh37 Chromosome 16, 4848632: 4848632
10 ROGDI NM_024589.2(ROGDI): c.469C> T (p.Arg157Ter) single nucleotide variant Pathogenic rs387907146 GRCh38 Chromosome 16, 4798631: 4798631
11 ROGDI NM_024589.2(ROGDI): c.507delC (p.Glu170Argfs) deletion Pathogenic rs786205124 GRCh38 Chromosome 16, 4798593: 4798593
12 ROGDI NM_024589.2(ROGDI): c.507delC (p.Glu170Argfs) deletion Pathogenic rs786205124 GRCh37 Chromosome 16, 4848594: 4848594
13 ROGDI NG_032174.1: g.5461_5468delGGCGGGGC deletion Pathogenic rs786205125 GRCh38 Chromosome 16, 4802483: 4802490
14 ROGDI NG_032174.1: g.5461_5468delGGCGGGGC deletion Pathogenic rs786205125 GRCh37 Chromosome 16, 4852484: 4852491
15 ROGDI NM_024589.2(ROGDI): c.45+9_45+20delCGCGGGCCAGCG deletion Uncertain significance rs772340154 GRCh38 Chromosome 16, 4802507: 4802518
16 ROGDI NM_024589.2(ROGDI): c.45+9_45+20delCGCGGGCCAGCG deletion Uncertain significance rs772340154 GRCh37 Chromosome 16, 4852508: 4852519
17 ROGDI NM_024589.2(ROGDI): c.414G> A (p.Thr138=) single nucleotide variant Benign/Likely benign rs11553876 GRCh37 Chromosome 16, 4849705: 4849705
18 ROGDI NM_024589.2(ROGDI): c.414G> A (p.Thr138=) single nucleotide variant Benign/Likely benign rs11553876 GRCh38 Chromosome 16, 4799704: 4799704
19 ROGDI NM_024589.2(ROGDI): c.783C> T (p.Phe261=) single nucleotide variant Conflicting interpretations of pathogenicity rs142481526 GRCh38 Chromosome 16, 4797753: 4797753
20 ROGDI NM_024589.2(ROGDI): c.783C> T (p.Phe261=) single nucleotide variant Conflicting interpretations of pathogenicity rs142481526 GRCh37 Chromosome 16, 4847754: 4847754
21 ROGDI NM_024589.2(ROGDI): c.243C> T (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs148051351 GRCh38 Chromosome 16, 4801279: 4801279
22 ROGDI NM_024589.2(ROGDI): c.243C> T (p.Ala81=) single nucleotide variant Conflicting interpretations of pathogenicity rs148051351 GRCh37 Chromosome 16, 4851280: 4851280
23 ROGDI NM_024589.2(ROGDI): c.646-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115660765 GRCh38 Chromosome 16, 4797992: 4797992
24 ROGDI NM_024589.2(ROGDI): c.646-5C> T single nucleotide variant Conflicting interpretations of pathogenicity rs115660765 GRCh37 Chromosome 16, 4847993: 4847993
25 ROGDI NM_024589.2(ROGDI): c.433-15C> T single nucleotide variant Benign/Likely benign rs114103417 GRCh38 Chromosome 16, 4798682: 4798682
26 ROGDI NM_024589.2(ROGDI): c.433-15C> T single nucleotide variant Benign/Likely benign rs114103417 GRCh37 Chromosome 16, 4848683: 4848683
27 ROGDI NM_024589.2(ROGDI): c.393C> G (p.Asp131Glu) single nucleotide variant Benign/Likely benign rs143095485 GRCh38 Chromosome 16, 4799725: 4799725
28 ROGDI NM_024589.2(ROGDI): c.393C> G (p.Asp131Glu) single nucleotide variant Benign/Likely benign rs143095485 GRCh37 Chromosome 16, 4849726: 4849726
29 ROGDI NM_024589.2(ROGDI): c.*451C> G single nucleotide variant Uncertain significance rs886052034 GRCh37 Chromosome 16, 4847010: 4847010
30 ROGDI NM_024589.2(ROGDI): c.*451C> G single nucleotide variant Uncertain significance rs886052034 GRCh38 Chromosome 16, 4797009: 4797009
31 ROGDI NM_024589.2(ROGDI): c.*270T> C single nucleotide variant Uncertain significance rs76192577 GRCh37 Chromosome 16, 4847191: 4847191
32 ROGDI NM_024589.2(ROGDI): c.*270T> C single nucleotide variant Uncertain significance rs76192577 GRCh38 Chromosome 16, 4797190: 4797190
33 ROGDI NM_024589.2(ROGDI): c.*144G> A single nucleotide variant Benign rs7546 GRCh37 Chromosome 16, 4847317: 4847317
34 ROGDI NM_024589.2(ROGDI): c.*144G> A single nucleotide variant Benign rs7546 GRCh38 Chromosome 16, 4797316: 4797316
35 ROGDI NM_024589.2(ROGDI): c.713G> A (p.Arg238His) single nucleotide variant Conflicting interpretations of pathogenicity rs138409264 GRCh37 Chromosome 16, 4847824: 4847824
36 ROGDI NM_024589.2(ROGDI): c.713G> A (p.Arg238His) single nucleotide variant Conflicting interpretations of pathogenicity rs138409264 GRCh38 Chromosome 16, 4797823: 4797823
37 ROGDI NM_024589.2(ROGDI): c.567G> A (p.Leu189=) single nucleotide variant Conflicting interpretations of pathogenicity rs143000899 GRCh37 Chromosome 16, 4848150: 4848150
38 ROGDI NM_024589.2(ROGDI): c.567G> A (p.Leu189=) single nucleotide variant Conflicting interpretations of pathogenicity rs143000899 GRCh38 Chromosome 16, 4798149: 4798149
39 ROGDI NM_024589.2(ROGDI): c.522C> T (p.Ser174=) single nucleotide variant Conflicting interpretations of pathogenicity rs150687774 GRCh37 Chromosome 16, 4848579: 4848579
40 ROGDI NM_024589.2(ROGDI): c.522C> T (p.Ser174=) single nucleotide variant Conflicting interpretations of pathogenicity rs150687774 GRCh38 Chromosome 16, 4798578: 4798578
41 ROGDI NM_024589.2(ROGDI): c.*347G> T single nucleotide variant Uncertain significance rs117730440 GRCh37 Chromosome 16, 4847114: 4847114
42 ROGDI NM_024589.2(ROGDI): c.*347G> T single nucleotide variant Uncertain significance rs117730440 GRCh38 Chromosome 16, 4797113: 4797113
43 ROGDI NM_024589.2(ROGDI): c.822+14G> A single nucleotide variant Uncertain significance rs200558978 GRCh37 Chromosome 16, 4847701: 4847701
44 ROGDI NM_024589.2(ROGDI): c.822+14G> A single nucleotide variant Uncertain significance rs200558978 GRCh38 Chromosome 16, 4797700: 4797700
45 ROGDI NM_024589.2(ROGDI): c.175G> A (p.Glu59Lys) single nucleotide variant Uncertain significance rs2305659 GRCh37 Chromosome 16, 4851529: 4851529
46 ROGDI NM_024589.2(ROGDI): c.175G> A (p.Glu59Lys) single nucleotide variant Uncertain significance rs2305659 GRCh38 Chromosome 16, 4801528: 4801528
47 ROGDI NM_024589.2(ROGDI): c.-89G> T single nucleotide variant Uncertain significance rs538342367 GRCh38 Chromosome 16, 4802660: 4802660
48 ROGDI NM_024589.2(ROGDI): c.-89G> T single nucleotide variant Uncertain significance rs538342367 GRCh37 Chromosome 16, 4852661: 4852661
49 ROGDI NM_024589.2(ROGDI): c.-320C> G single nucleotide variant Benign rs17137286 GRCh38 Chromosome 16, 4802891: 4802891
50 ROGDI NM_024589.2(ROGDI): c.-320C> G single nucleotide variant Benign rs17137286 GRCh37 Chromosome 16, 4852892: 4852892

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 9.73 APP PSEN1 ROGDI SERPINI1
2 neuron projection GO:0043005 9.7 APP MAPT PSEN1
3 membrane raft GO:0045121 9.63 APP MAPT PSEN1
4 dendrite GO:0030425 9.62 APOE MAPT PSEN1 ROGDI
5 growth cone GO:0030426 9.54 APP MAPT PSEN1
6 rough endoplasmic reticulum GO:0005791 9.51 APP PSEN1
7 dendritic shaft GO:0043198 9.48 APP PSEN1
8 neuronal cell body GO:0043025 9.46 APOE MAPT PSEN1 SERPINI1
9 smooth endoplasmic reticulum GO:0005790 9.4 APP PSEN1
10 ciliary rootlet GO:0035253 9.26 APP PSEN1
11 axon GO:0030424 9.26 APP MAPT PSEN1 ROGDI
12 main axon GO:0044304 8.62 APP MAPT
13 plasma membrane GO:0005886 10.04 APOE APP MAPT PSEN1 ROGDI SLC13A5

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 APOE APP MAPT
2 cellular protein metabolic process GO:0044267 9.74 APOE APP PSEN1
3 response to oxidative stress GO:0006979 9.7 APOE APP PSEN1
4 forebrain development GO:0030900 9.63 APP PSEN1
5 positive regulation of protein binding GO:0032092 9.63 APP PSEN1
6 neurogenesis GO:0022008 9.62 PSEN1 ROGDI
7 learning or memory GO:0007611 9.62 APP PSEN1
8 regulation of synaptic plasticity GO:0048167 9.61 MAPT PSEN1
9 cellular response to nerve growth factor stimulus GO:1990090 9.61 APP MAPT
10 neuron apoptotic process GO:0051402 9.6 APP PSEN1
11 cellular response to amyloid-beta GO:1904646 9.58 APP PSEN1
12 positive regulation of phosphorylation GO:0042327 9.58 APP PSEN1
13 positive regulation of dendritic spine development GO:0060999 9.56 APOE PSEN1
14 regulation of protein binding GO:0043393 9.55 APP PSEN1
15 response to lead ion GO:0010288 9.54 APP MAPT
16 amyloid precursor protein metabolic process GO:0042982 9.51 APOE PSEN1
17 negative regulation of long-term synaptic potentiation GO:1900272 9.49 APOE APP
18 neuron projection maintenance GO:1990535 9.48 APP PSEN1
19 amyloid fibril formation GO:1990000 9.46 APP MAPT
20 modulation of age-related behavioral decline GO:0090647 9.43 APP PSEN1
21 synapse organization GO:0050808 9.43 APP MAPT PSEN1
22 negative regulation of low-density lipoprotein receptor activity GO:1905598 9.4 APP PSEN1
23 regulation of epidermal growth factor-activated receptor activity GO:0007176 9.37 APP PSEN1
24 astrocyte activation involved in immune response GO:0002265 9.32 APP PSEN1
25 smooth endoplasmic reticulum calcium ion homeostasis GO:0051563 9.16 APP PSEN1
26 astrocyte activation GO:0048143 9.13 APP MAPT PSEN1
27 positive regulation of amyloid fibril formation GO:1905908 8.8 APOE APP PSEN1

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 APOE APP MAPT TYROBP
2 lipoprotein particle binding GO:0071813 8.62 APOE MAPT

Sources for Kohlschutter-Tonz Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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