Kohlschutter-Tonz Syndrome (KTZS)

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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 SNOMED-CT via HPO 70 128613002 16026008 221360009 224958001 228156007 230745008 237836003 246545002 247578003 258211005 26597004 274521009 278849000 28055006 313307000 397790002 40700009 418143002 45004005 52448006 52522001 609225004 699382004 699421005 78494001 84757009 85102008 91138005 91175000 more UMLS 74 C0011265 C0406740 C0497327

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...

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.