Kohlschutter-tonz syndrome

Preferred Label : Kohlschutter-tonz syndrome;

Symbol : KTZS;

CISMeF acronym : KTZS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Epilepsy, dementia, and amelogenesis imperfecta; Epilepsy and yellow teeth; Kohlschutter syndrome;

Description : 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).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the rogdi atypical leucine zipper gene (ROGDI, 614574.0001);

Prefixed ID : #226750;

Details

Origin ID

226750;

UMLS CUI

C0406740;

Automatic exact mappings (from CISMeF team)
- Kohlschutter-Tonz syndrome [DO Concept]
Currated CISMeF NLP mapping
- Amelo-cerebro-hypohidrotic syndrome [ICD-11 More detail]
- Amelocerebrohypohidrotic syndrome [ORDO Disease]
- Kohlschutter Tonz syndrome [Disease (Nov.)]
- Kohlschutter Tonz syndrome [MeSH concept]
- Kohlschutter's syndrome (disorder) [SNOMED CT concept]
- kohlschutter tonz syndrome [MeSH Supplementary Concept]
DO Cross reference
- Kohlschutter-Tonz syndrome [DO Concept]
Genes related to phenotype
- Rogdi atypical leucine zipper [OMIM gene]
HPO term(s)
- Amelogenesis imperfecta [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Cerebellar hypoplasia [HPO term]
- Cerebral atrophy [HPO term]
- Dementia [HPO term]
- Developmental regression [HPO term]
- Enamel hypoplasia [HPO term]
- Epileptic encephalopathy [HPO term]
- Global developmental delay [HPO term]
- Hypsarrhythmia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
- Variable expressivity [HPO term]
- Ventriculomegaly [HPO term]
ORDO concept(s)
- Amelocerebrohypohidrotic syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Amelo-cerebro-hypohidrotic syndrome [ICD-11 More detail]
- Amelocerebrohypohidrotic syndrome [ORDO Disease]
- Kohlschutter Tonz syndrome [MeSH concept]
- Kohlschutter Tonz syndrome [Disease (Nov.)]
- Kohlschutter's syndrome (disorder) [SNOMED CT concept]
- Kohlschutter-Tonz syndrome [DO Concept]
- kohlschutter tonz syndrome [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients