Pitt-hopkins-like syndrome 1

Preferred Label : Pitt-hopkins-like syndrome 1;

Symbol : PTHSL1;

CISMeF acronym : CDFES; PTHSL1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Cortical dysplasia-focal epilepsy syndrome; CDFES; Cdfe syndrome;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the contactin-associated protein-like 2 gene (CNTNAP2, 604569.0001);

Prefixed ID : #610042;

Details

Origin ID

610042;

UMLS CUI

C2750246;

Automatic exact mappings (from CISMeF team)
- CNTNAP2 wt Allele [NCIt concept]
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH concept]
Currated CISMeF NLP mapping
- CNTNAP2-related developmental and epileptic encephalopathy [ORDO Disease]
- Cortical Dysplasia-Focal Epilepsy Syndrome [NCIt concept]
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH Supplementary Concept]
- Pitt-Hopkins-like syndrome [ORDO Disease]
- cortical dysplasia-focal epilepsy syndrome [DO Concept]
DO Cross reference
- cortical dysplasia-focal epilepsy syndrome [DO Concept]
Genes related to phenotype
- Contactin-associated protein-like 2 [OMIM gene]
HPO term(s)
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Ataxia [HPO term]
- Autosomal recessive inheritance [HPO term]
- Coarse facial features [HPO term]
- Cortical dysplasia [HPO term]
- Delayed gross motor development [HPO term]
- EEG abnormality [HPO term]
- Focal cortical dysplasia [HPO term]
- Focal-onset seizure [HPO term]
- Generalized hypotonia [HPO term]
- Generalized-onset seizure [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Hyperventilation [HPO term]
- Hyporeflexia [HPO term]
- Impaired social interactions [HPO term]
- Intellectual disability [HPO term]
- Language impairment [HPO term]
- Macrocephaly [HPO term]
- Poor speech [HPO term]
- Progressive language deterioration [HPO term]
- Reduced tendon reflexes [HPO term]
- Seizure [HPO term]
- Spasticity [HPO term]
ORDO concept(s)
- CNTNAP2-related developmental and epileptic encephalopathy [ORDO Disease]
- Pitt-Hopkins-like syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- CNTNAP2-related developmental and epileptic encephalopathy [ORDO Disease]
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH concept]
- Cortical Dysplasia-Focal Epilepsy Syndrome [MeSH Supplementary Concept]
- cortical dysplasia-focal epilepsy syndrome [DO Concept]

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