Kohlschutter-Tonz Syndrome (KTZS)

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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 SNOMED-CT via HPO 69 258211005 230745008 78494001 52448006 45004005 228156007 247578003 91138005 128613002 246545002 313307000 84757009 91175000 85102008 221360009 397790002 224958001 16026008 278849000 418143002 52522001 274521009 609225004 28055006 237836003 26597004 699382004 699421005 40700009 more UMLS 73 C0406740 C0011265 C0497327

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...

Clinical features from OMIM:

226750

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

citalopram citalopram hydrobromide prochlorperazine

prochlorperazine edisylate salt prochlorperazine maleate risperidone

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