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

MCID: KHL003 MIFTS: 35	Kohlschutter-Tonz Syndrome Categories: Genetic diseases, Rare diseases, Skin diseases, Fetal diseases, Oral diseases, Mental diseases
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs Download Expand all tables

Sources

Aliases & Classifications for Kohlschutter-Tonz Syndrome

MalaCards integrated aliases for Kohlschutter-Tonz Syndrome:

Name: Kohlschutter-Tonz Syndrome ⁵⁷ ⁵⁹ ⁷⁵ ³⁷ ¹³ ⁴⁰

Kohlschutter Tonz Syndrome ⁵³ ⁷³

Epilepsy and Yellow Teeth ⁵⁷ ⁵³

Kohlschutter's Syndrome ²⁹ ⁶

Kohlschutter Syndrome ⁵⁷ ⁵³

Dementia ⁴⁴ ⁷³

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

Presenile 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:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Skin diseases Oral diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³⁴

Diseases of the nervous system

Episodic and paroxysmal disorders

Epilepsy

Other epilepsy

Orphanet: ⁵⁹

Rare skin diseases

Developmental anomalies during embryogenesis

Rare odontological diseases

External Ids:

OMIM ⁵⁷ 226750

Orphanet ⁵⁹ ORPHA1946

ICD10 via Orphanet ³⁴ G40.8

UMLS via Orphanet ⁷⁴ C0406740

MedGen ⁴² C0406740

MeSH ⁴⁴ D000567 D003704 D004827

KEGG ³⁷ H02058

UMLS ⁷³ C0406740 C0011265 C0497327

Sources

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 amelogenesis imperfecta and dementia, and has symptoms including ataxia, muscle spasticity and seizures. An important gene associated with Kohlschutter-Tonz Syndrome is ROGDI (Rogdi Homolog). Affiliated tissues include skin, and related phenotypes are hydrocephalus and seizures

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.

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.

Wikipedia : ⁷⁶ Kohlschütter-Tönz syndrome (KTS), also called Amelo-cerebro-hypohidrotic syndrome is a rare inherited... more...

Sources

Related Diseases for Kohlschutter-Tonz Syndrome

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

#	Related Disease	Score
1	amelogenesis imperfecta	10.3
2	dementia	10.3
3	epilepsy	10.3

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

Acute Cystitis	Alzheimer Disease
Decubitus Ulcer	Deficiency Anemia
Heart Disease	Schizophreniform Disorder

Sources

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:

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

Sources

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

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

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :

citalopram

citalopram hydrobromide

prochlorperazine

prochlorperazine edisylate salt

prochlorperazine maleate

risperidone

Cochrane evidence based reviews: dementia

Sources

Genetic Tests for Kohlschutter-Tonz Syndrome

Genetic tests related to Kohlschutter-Tonz Syndrome:

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

Sources

Anatomical Context for Kohlschutter-Tonz Syndrome

MalaCards organs/tissues related to Kohlschutter-Tonz Syndrome:

⁴¹

Skin

Sources

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

Sources

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 Homolog	Protein Coding	1377.99	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation (loss of function) ⁵⁹ Genetic Tests ²⁹ GeneCards inferred via : Publications Summaries (show sections)	22424600 4372200 22482807 (more) 3236364 23086778 7625549 16411202 8133980
2	SLC13A5	Solute Carrier Family 13 Member 5	Protein Coding	350	Causative germline mutation ⁵⁹

Sources

Variations for Kohlschutter-Tonz Syndrome

ClinVar genetic disease variations for Kohlschutter-Tonz Syndrome:

⁶

(show top 50) (show all 170)

#	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.783C> T (p.Phe261=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142481526	GRCh38	Chromosome 16, 4797753: 4797753
16	ROGDI	NM_024589.2(ROGDI): c.783C> T (p.Phe261=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs142481526	GRCh37	Chromosome 16, 4847754: 4847754
17	ROGDI	NM_024589.2(ROGDI): c.243C> T (p.Ala81=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148051351	GRCh38	Chromosome 16, 4801279: 4801279
18	ROGDI	NM_024589.2(ROGDI): c.243C> T (p.Ala81=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs148051351	GRCh37	Chromosome 16, 4851280: 4851280
19	ROGDI	NM_024589.2(ROGDI): c.646-5C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115660765	GRCh37	Chromosome 16, 4847993: 4847993
20	ROGDI	NM_024589.2(ROGDI): c.646-5C> T	single nucleotide variant	Conflicting interpretations of pathogenicity	rs115660765	GRCh38	Chromosome 16, 4797992: 4797992
21	ROGDI	NM_024589.2(ROGDI): c.433-15C> T	single nucleotide variant	Likely benign	rs114103417	GRCh38	Chromosome 16, 4798682: 4798682
22	ROGDI	NM_024589.2(ROGDI): c.433-15C> T	single nucleotide variant	Likely benign	rs114103417	GRCh37	Chromosome 16, 4848683: 4848683
23	ROGDI	NM_024589.2(ROGDI): c.393C> G (p.Asp131Glu)	single nucleotide variant	Benign/Likely benign	rs143095485	GRCh38	Chromosome 16, 4799725: 4799725
24	ROGDI	NM_024589.2(ROGDI): c.393C> G (p.Asp131Glu)	single nucleotide variant	Benign/Likely benign	rs143095485	GRCh37	Chromosome 16, 4849726: 4849726
25	ROGDI	NM_024589.2(ROGDI): c.*451C> G	single nucleotide variant	Uncertain significance	rs886052034	GRCh37	Chromosome 16, 4847010: 4847010
26	ROGDI	NM_024589.2(ROGDI): c.*451C> G	single nucleotide variant	Uncertain significance	rs886052034	GRCh38	Chromosome 16, 4797009: 4797009
27	ROGDI	NM_024589.2(ROGDI): c.*270T> C	single nucleotide variant	Uncertain significance	rs76192577	GRCh37	Chromosome 16, 4847191: 4847191
28	ROGDI	NM_024589.2(ROGDI): c.*270T> C	single nucleotide variant	Uncertain significance	rs76192577	GRCh38	Chromosome 16, 4797190: 4797190
29	ROGDI	NM_024589.2(ROGDI): c.*144G> A	single nucleotide variant	Benign	rs7546	GRCh37	Chromosome 16, 4847317: 4847317
30	ROGDI	NM_024589.2(ROGDI): c.*144G> A	single nucleotide variant	Benign	rs7546	GRCh38	Chromosome 16, 4797316: 4797316
31	ROGDI	NM_024589.2(ROGDI): c.713G> A (p.Arg238His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138409264	GRCh37	Chromosome 16, 4847824: 4847824
32	ROGDI	NM_024589.2(ROGDI): c.713G> A (p.Arg238His)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs138409264	GRCh38	Chromosome 16, 4797823: 4797823
33	ROGDI	NM_024589.2(ROGDI): c.567G> A (p.Leu189=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143000899	GRCh37	Chromosome 16, 4848150: 4848150
34	ROGDI	NM_024589.2(ROGDI): c.567G> A (p.Leu189=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs143000899	GRCh38	Chromosome 16, 4798149: 4798149
35	ROGDI	NM_024589.2(ROGDI): c.522C> T (p.Ser174=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150687774	GRCh37	Chromosome 16, 4848579: 4848579
36	ROGDI	NM_024589.2(ROGDI): c.522C> T (p.Ser174=)	single nucleotide variant	Conflicting interpretations of pathogenicity	rs150687774	GRCh38	Chromosome 16, 4798578: 4798578
37	ROGDI	NM_024589.2(ROGDI): c.*347G> T	single nucleotide variant	Uncertain significance	rs117730440	GRCh37	Chromosome 16, 4847114: 4847114
38	ROGDI	NM_024589.2(ROGDI): c.*347G> T	single nucleotide variant	Uncertain significance	rs117730440	GRCh38	Chromosome 16, 4797113: 4797113
39	ROGDI	NM_024589.2(ROGDI): c.822+14G> A	single nucleotide variant	Uncertain significance	rs200558978	GRCh37	Chromosome 16, 4847701: 4847701
40	ROGDI	NM_024589.2(ROGDI): c.822+14G> A	single nucleotide variant	Uncertain significance	rs200558978	GRCh38	Chromosome 16, 4797700: 4797700
41	ROGDI	NM_024589.2(ROGDI): c.175G> A (p.Glu59Lys)	single nucleotide variant	Uncertain significance	rs2305659	GRCh37	Chromosome 16, 4851529: 4851529
42	ROGDI	NM_024589.2(ROGDI): c.175G> A (p.Glu59Lys)	single nucleotide variant	Uncertain significance	rs2305659	GRCh38	Chromosome 16, 4801528: 4801528
43	ROGDI	NM_024589.2(ROGDI): c.-89G> T	single nucleotide variant	Uncertain significance	rs538342367	GRCh38	Chromosome 16, 4802660: 4802660
44	ROGDI	NM_024589.2(ROGDI): c.-89G> T	single nucleotide variant	Uncertain significance	rs538342367	GRCh37	Chromosome 16, 4852661: 4852661
45	ROGDI	NM_024589.2(ROGDI): c.-320C> G	single nucleotide variant	Benign	rs17137286	GRCh38	Chromosome 16, 4802891: 4802891
46	ROGDI	NM_024589.2(ROGDI): c.-320C> G	single nucleotide variant	Benign	rs17137286	GRCh37	Chromosome 16, 4852892: 4852892
47	ROGDI	NM_024589.2(ROGDI): c.-338C> T	single nucleotide variant	Uncertain significance	rs757790008	GRCh38	Chromosome 16, 4802909: 4802909
48	ROGDI	NM_024589.2(ROGDI): c.-338C> T	single nucleotide variant	Uncertain significance	rs757790008	GRCh37	Chromosome 16, 4852910: 4852910
49	ROGDI	NM_024589.2(ROGDI): c.-342C> A	single nucleotide variant	Uncertain significance	rs886052041	GRCh38	Chromosome 16, 4802913: 4802913
50	ROGDI	NM_024589.2(ROGDI): c.-342C> A	single nucleotide variant	Uncertain significance	rs886052041	GRCh37	Chromosome 16, 4852914: 4852914

Sources

Expression for Kohlschutter-Tonz Syndrome

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

Sources

Pathways for Kohlschutter-Tonz Syndrome

Sources

GO Terms for Kohlschutter-Tonz Syndrome

Sources

Sources for Kohlschutter-Tonz Syndrome

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ ExPASy

¹⁸ FDA Approved Drugs

¹⁹ FMA

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ Genetics Home Reference

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HGMD

³¹ HMDB

³² HPO

³³ ICD10

³⁴ ICD10 via Orphanet

³⁵ ICD9CM

³⁶ IUPHAR

³⁷ KEGG

³⁸ LifeMap

³⁹ LncRNADisease

⁴⁰ LOVD

⁴¹ MalaCards

⁴² MedGen

⁴³ MedlinePlus

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NIH Rare Diseases

⁵⁴ NINDS

⁵⁵ Novoseek

⁵⁶ Novus Biologicals

⁵⁷ OMIM

⁵⁸ OMIM via Orphanet

⁵⁹ Orphanet

⁶⁰ PathCards

⁶¹ PharmGKB

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ SNOMED-CT via Orphanet

⁷¹ TGDB

⁷² Tocris

⁷³ UMLS

⁷⁴ UMLS via Orphanet

⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia

Kohlschutter-Tonz Syndrome

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):

Symptoms & Phenotypes for Kohlschutter-Tonz Syndrome

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Human phenotypes related to Kohlschutter-Tonz Syndrome:

UMLS symptoms related to Kohlschutter-Tonz Syndrome:

Drugs & Therapeutics for Kohlschutter-Tonz Syndrome

Inferred drug relations via UMLS 73 / NDF-RT 51 :

Cochrane evidence based reviews: dementia

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

GO Terms for Kohlschutter-Tonz Syndrome

Sources for Kohlschutter-Tonz Syndrome

Inferred drug relations via UMLS ⁷³ / NDF-RT ⁵¹ :