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 57 59 75 37 13
Kohlschutter Tonz Syndrome 53 73
Epilepsy and Yellow Teeth 57 53
Kohlschutter's Syndrome 29 6
Kohlschutter Syndrome 57 53
Ktzs 57 75
Epilepsy-Dementia-Amelogenesis Imperfecta Syndrome 59
Epilepsy, Dementia, and Amelogenesis Imperfecta 57
Epilepsy Dementia Amelogenesis Imperfecta 53
Amelocerebrohypohidrotic Syndrome 59
Kohlschuetter-Toenz Syndrome 75
Kohlsch�tter-T�nz Syndrome 76
Kohlschütter-Tönz Syndrome 40
Presenile Dementia 73
Dementia 73

Characteristics:

Orphanet epidemiological data:

59
amelocerebrohypohidrotic syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Childhood,Infancy,Neonatal; Age of death: adolescent,adult,early childhood,elderly,late childhood,young Adult;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

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


Classifications:



Summaries for Kohlschutter-Tonz Syndrome

OMIM : 57 Kohlschutter-Tonz syndrome is an autosomal recessive disorder characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta affecting both primary and secondary teeth and causing yellow or brown discoloration of the teeth. Although the phenotype is consistent, there is variability. Intellectual disability is related to the severity of seizures, and the disorder can thus be considered an epileptic encephalopathy. Some infants show normal development until seizure onset, whereas others are delayed from birth. The most severely affected individuals have profound mental retardation, never acquire speech, and become bedridden early in life (summary by Schossig et al., 2012 and Mory et al., 2012). (226750)

MalaCards based summary : Kohlschutter-Tonz Syndrome, also known as kohlschutter tonz syndrome, is related to dementia and amelogenesis imperfecta, and has symptoms including seizures, ataxia and tremor. An important gene associated with Kohlschutter-Tonz Syndrome is ROGDI (Rogdi Homolog), and among its related pathways/superpathways are Neuroscience and Reelin Pathway (Cajal-Retzius cells). Affiliated tissues include skin and brain, and related phenotypes are hydrocephalus and seizures

NIH Rare Diseases : 53 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 : 75 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 : 76 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 29.4 APOE APP MAPT PSEN1 SERPINI1 TYROBP
2 amelogenesis imperfecta 10.4
3 epilepsy 10.4
4 simultanagnosia 10.1 APOE MAPT
5 posterior cortical atrophy 10.1 APOE MAPT
6 apraxia 10.0 MAPT PSEN1
7 communicating hydrocephalus 10.0 APOE MAPT
8 hydrocephalus, normal-pressure 10.0 APOE MAPT
9 nominal aphasia 10.0 MAPT PSEN1
10 progressive non-fluent aphasia 10.0 MAPT PSEN1
11 behavioral variant of frontotemporal dementia 10.0 MAPT PSEN1
12 echolalia 10.0 MAPT PSEN1
13 brain injury 10.0 APOE MAPT
14 alzheimer disease 4 10.0 APOE PSEN1
15 alexia 10.0 APOE PSEN1
16 agraphia 10.0 MAPT PSEN1
17 frontotemporal dementia and/or amyotrophic lateral sclerosis 1 9.9 MAPT PSEN1
18 senile plaque formation 9.9 APOE APP
19 alzheimer's disease 1 9.9 APOE APP
20 alzheimer disease mitochondrial 9.9 APP MAPT
21 cerebral amyloid angiopathy, itm2b-related, 1 9.9 APP SERPINI1
22 early-onset, autosomal dominant alzheimer disease 9.9 APP PSEN1
23 hemorrhage, intracerebral 9.9 APOE APP
24 semantic dementia 9.8 APOE MAPT PSEN1
25 prion disease 9.8 APP MAPT
26 speech and communication disorders 9.8 APOE MAPT PSEN1
27 dopamine beta-hydroxylase deficiency, congenital 9.8 APP PSEN1
28 leukoencephalopathy, hereditary diffuse, with spheroids 9.8 APP MAPT
29 binswanger's disease 9.8 APOE APP MAPT
30 inclusion body myositis 9.8 APOE APP MAPT
31 cerebrovascular disease 9.7 APOE APP MAPT
32 kluver-bucy syndrome 9.7 APP MAPT PSEN1
33 hydrocephalus 9.7 APOE APP MAPT
34 gait apraxia 9.7 APOE APP PSEN1
35 synucleinopathy 9.7 APP MAPT
36 amyloidosis 9.7 APOE APP PSEN1
37 amyotrophic lateral sclerosis 1 9.6 APP MAPT PSEN1
38 parkinson disease, late-onset 9.6 APOE APP MAPT
39 familial idiopathic basal ganglia calcification 9.6 APOE APP MAPT PSEN1
40 alzheimer disease 9.6 APOE APP MAPT PSEN1
41 alzheimer disease 2 9.6 APOE APP MAPT PSEN1
42 aphasia 9.6 APOE APP MAPT PSEN1
43 pick disease of brain 9.6 APOE APP MAPT PSEN1
44 cerebral amyloid angiopathy, cst3-related 9.6 APOE APP MAPT PSEN1
45 supranuclear palsy, progressive, 1 9.5 APOE APP MAPT PSEN1
46 vascular dementia 9.5 APOE APP MAPT PSEN1
47 dementia, lewy body 9.5 APOE APP MAPT PSEN1
48 disease of mental health 9.5 APOE APP MAPT PSEN1
49 nervous system disease 9.5 APOE APP MAPT PSEN1
50 central nervous system disease 9.5 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

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
seizures
ataxia
spasticity
hypertonia
cerebellar hypoplasia
more
Head And Neck Teeth:
enamel hypoplasia
amelogenesis imperfecta, hypocalcified type (primary and secondary teeth)
discolored teeth


Clinical features from OMIM:

226750

Human phenotypes related to Kohlschutter-Tonz Syndrome:

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

UMLS symptoms related to Kohlschutter-Tonz Syndrome:


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

MGI Mouse Phenotypes related to Kohlschutter-Tonz Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 9.7 APOE APP MAPT PSEN1 SERPINI1 SLC13A5
2 cellular MP:0005384 9.43 APOE APP MAPT PSEN1 SLC13A5 TYROBP
3 muscle MP:0005369 9.02 APOE APP MAPT PSEN1 SLC13A5

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

Genetic Tests for Kohlschutter-Tonz Syndrome

Genetic tests related to Kohlschutter-Tonz Syndrome:

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

Anatomical Context for Kohlschutter-Tonz Syndrome

MalaCards organs/tissues related to Kohlschutter-Tonz Syndrome:

41
Skin, Brain

Publications for Kohlschutter-Tonz Syndrome

Articles related to Kohlschutter-Tonz Syndrome:

# Title Authors Year
1
A novel ROGDI gene mutation is associated with Kohlschutter-Tonz syndrome. ( 29153277 )
2018
2
Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel. ( 24630287 )
2014
3
Mutations in ROGDI cause Kohlschutter-Tonz syndrome. ( 22424600 )
2012
4
A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. ( 22482807 )
2012

Variations for Kohlschutter-Tonz Syndrome

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

6 (show top 50) (show all 220)
# 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 9.71 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 9.43 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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