Kohlschutter-Tonz Syndrome disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

KTZS MCID: KHL003 MIFTS: 49	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 Expand all tables

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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:

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: ³⁵

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Other epilepsy

Orphanet: ⁶⁰

Rare skin diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

OMIM ⁵⁸ 226750

KEGG ³⁸ H02058

MeSH ⁴⁵ D000567 D003704 D004827

ICD10 via Orphanet ³⁵ G40.8

UMLS via Orphanet ⁷⁵ C0406740

Orphanet ⁶⁰ ORPHA1946

MedGen ⁴³ C0406740

UMLS ⁷⁴ C0011265 C0406740 C0497327

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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 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 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...

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Related Diseases for Kohlschutter-Tonz Syndrome

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

(show all 49)

#	Related Disease	Score	Top Affiliating Genes
1	dementia	28.8	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	10.1	MAPT PSEN1
7	communicating hydrocephalus	10.0	APOE MAPT
8	nominal aphasia	10.0	MAPT PSEN1
9	progressive non-fluent aphasia	10.0	MAPT PSEN1
10	hydrocephalus, normal-pressure	10.0	APOE MAPT
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	cerebral amyloid angiopathy, itm2b-related, 1	9.8	APP SERPINI1
21	early-onset, autosomal dominant alzheimer disease	9.8	APP PSEN1
22	hemorrhage, intracerebral	9.8	APOE APP
23	semantic dementia	9.8	APOE MAPT PSEN1
24	prion disease	9.7	APP MAPT
25	speech and communication disorders	9.7	APOE MAPT PSEN1
26	leukoencephalopathy, hereditary diffuse, with spheroids	9.7	APP MAPT
27	alzheimer disease mitochondrial	9.6	APOE APP MAPT
28	binswanger's disease	9.6	APOE APP MAPT
29	supranuclear palsy, progressive, 1	9.6	APOE APP MAPT
30	inclusion body myositis	9.6	APOE APP MAPT
31	cerebrovascular disease	9.6	APOE APP MAPT
32	kluver-bucy syndrome	9.6	APP MAPT PSEN1
33	hydrocephalus	9.6	APOE APP MAPT
34	gait apraxia	9.6	APOE APP PSEN1
35	synucleinopathy	9.5	APP MAPT
36	amyloidosis	9.5	APOE APP PSEN1
37	amyotrophic lateral sclerosis 1	9.4	APP MAPT PSEN1
38	parkinson disease, late-onset	9.4	APOE APP MAPT
39	alzheimer disease	9.3	APOE APP MAPT PSEN1
40	alzheimer disease 2	9.3	APOE APP MAPT PSEN1
41	aphasia	9.3	APOE APP MAPT PSEN1
42	pick disease of brain	9.3	APOE APP MAPT PSEN1
43	cerebral amyloid angiopathy, cst3-related	9.3	APOE APP MAPT PSEN1
44	vascular dementia	9.3	APOE APP MAPT PSEN1
45	dementia, lewy body	9.3	APOE APP MAPT PSEN1
46	disease of mental health	9.3	APOE APP MAPT PSEN1
47	nervous system disease	9.3	APOE APP MAPT PSEN1
48	central nervous system disease	9.3	APOE APP MAPT PSEN1
49	frontotemporal dementia	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:

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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	abnormality of dental enamel ⁶⁰		Very frequent (99-80%)
18	mental deterioration ⁶⁰		Very frequent (99-80%)
19	abnormality of dental color ⁶⁰		Very frequent (99-80%)
20	cerebral atrophy ³³			HP:0002059
21	hypsarrhythmia ³³			HP:0002521
22	epileptic encephalopathy ³³			HP:0200134
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

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Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

Search Clinical Trials , NIH Clinical Center for Kohlschutter-Tonz Syndrome

Inferred drug relations via UMLS ⁷⁴ / NDF-RT ⁵² :

citalopram

citalopram hydrobromide

prochlorperazine

prochlorperazine edisylate salt

prochlorperazine maleate

risperidone

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Genetic Tests for Kohlschutter-Tonz Syndrome

Genetic tests related to Kohlschutter-Tonz Syndrome:

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

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Anatomical Context for Kohlschutter-Tonz Syndrome

MalaCards organs/tissues related to Kohlschutter-Tonz Syndrome:

⁴²

Skin

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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 )	Aswath N....Ramanathan A.	2018
2	Kohlschutter-Tonz syndrome: clinical and genetic insights gained from 16 cases deriving from a close-knit village in Northern Israel. ( 24630287 )	Mory A....Gershoni-Baruch R.	2014
3	Mutations in ROGDI cause Kohlschutter-Tonz syndrome. ( 22424600 )	Schossig A....Zschocke J.	2012
4	A nonsense mutation in the human homolog of Drosophila rogdi causes Kohlschutter-Tonz syndrome. ( 22482807 )	Mory A....Gershoni-Baruch R.	2012

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Genes for Kohlschutter-Tonz Syndrome

Genes related to Kohlschutter-Tonz Syndrome (2 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	ROGDI	Rogdi Atypical Leucine Zipper	Protein Coding	1377.83	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Publications Summaries (show sections)	22424600 16411202 4372200 (more) 22482807 3236364 23086778 7625549 8133980
2	SLC13A5	Solute Carrier Family 13 Member 5	Protein Coding	350	Causative germline mutation ⁶⁰
3	TYROBP	TYRO Protein Tyrosine Kinase Binding Protein	Protein Coding	20.66	Novoseek inferred ⁵⁶	9828133 10888890
4	MAPT	Microtubule Associated Protein Tau	Protein Coding	18.97	Novoseek inferred ⁵⁶	9108114 16914875 9636220 (more) 10931371 17586264 10208578 8811124 11891833
5	SERPINI1	Serpin Family I Member 1	Protein Coding	18.54	Novoseek inferred ⁵⁶	17606885
6	PSEN1	Presenilin 1	Protein Coding	18.37	Novoseek inferred ⁵⁶	18583368 10720282 16930451
7	APP	Amyloid Beta Precursor Protein	Protein Coding	16.66	Novoseek inferred ⁵⁶	1303239 1307241 8321254
8	APOE	Apolipoprotein E	Protein Coding	14.24	Novoseek inferred ⁵⁶	7586507

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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

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Expression for Kohlschutter-Tonz Syndrome

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

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Pathways for Kohlschutter-Tonz Syndrome

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

#	Super pathways	Score	Top Affiliating Genes
1	Neuroscience ⁴	11.79	APOE APP MAPT PSEN1
2	Reelin Pathway (Cajal-Retzius cells) ⁶⁵	11.34	APOE APP MAPT
3	p75(NTR)-mediated signaling ¹ Show member pathways Ceramide signalling ⁶⁷ NFG and proNGF binds to p75NTR ⁶⁷	11.3	APP PSEN1
4	A-beta Signaling Pathways ⁶⁶	11.2	APP PSEN1
5	Apoptosis-related network due to altered Notch3 in ovarian cancer ¹	11.17	APOE APP
6	Copper homeostasis ¹	11.14	APP MAPT
7	G-protein signaling_Regulation of RAC1 activity ²³	11.11	APOE APP MAPT
8	A-beta Pathways: Uptake and Degradation ⁶⁶	10.87	APOE APP
9	A-beta Pathways: Plaque Formation and APP Metabolism ⁶⁶	10.68	APP PSEN1
10	Alzheimers Disease Pathway ⁶⁵	10.58	APOE APP MAPT PSEN1

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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

Sources for Kohlschutter-Tonz Syndrome

¹ BioSystems

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⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Kohlschutter-Tonz Syndrome (KTZS)

Aliases & Classifications for Kohlschutter-Tonz Syndrome

MalaCards integrated aliases for Kohlschutter-Tonz Syndrome:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Kohlschutter-Tonz Syndrome

Related Diseases for Kohlschutter-Tonz Syndrome

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

Comorbidity relations with Kohlschutter-Tonz Syndrome via Phenotypic Disease Network (PDN):

Graphical network of the top 20 diseases related to Kohlschutter-Tonz Syndrome:

Symptoms & Phenotypes for Kohlschutter-Tonz Syndrome

Human phenotypes related to Kohlschutter-Tonz Syndrome:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

UMLS symptoms related to Kohlschutter-Tonz Syndrome:

MGI Mouse Phenotypes related to Kohlschutter-Tonz Syndrome:

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

Inferred drug relations via UMLS 74 / NDF-RT 52 :

Genetic Tests for Kohlschutter-Tonz Syndrome

Genetic tests related to Kohlschutter-Tonz Syndrome:

Anatomical Context for Kohlschutter-Tonz Syndrome

MalaCards organs/tissues related to Kohlschutter-Tonz Syndrome:

Publications for Kohlschutter-Tonz Syndrome

Articles related to Kohlschutter-Tonz Syndrome:

Genes for Kohlschutter-Tonz Syndrome

Genes related to Kohlschutter-Tonz Syndrome (2 elite genes):

Variations for Kohlschutter-Tonz Syndrome

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

Expression for Kohlschutter-Tonz Syndrome

Pathways for Kohlschutter-Tonz Syndrome

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

GO Terms for Kohlschutter-Tonz Syndrome

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

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

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

Sources for Kohlschutter-Tonz Syndrome

Inferred drug relations via UMLS ⁷⁴ / NDF-RT ⁵² :