Pitt-hopkins syndrome

Preferred Label : Pitt-hopkins syndrome;

Symbol : PTHS;

CISMeF acronym : PTHS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, syndromal, with intermittent hyperventilation; Encephalopathy, severe epileptic, with autonomic dysfunction;

Description : The Pitt-Hopkins syndrome is characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea (Zweier et al., 2007). See also Pitt-Hopkins-like syndrome-1 (610042), caused by mutation in the CNTNAP2 gene (604569) on chromosome 7q35, and Pitt-Hopkins-like syndrome-2 (600565), caused by mutation in the NRXN1 gene (600565) on chromosome 2p16.3.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the transcription factor-4 gene (TCF4, 602272.0001);

Prefixed ID : #610954;

Details

Origin ID

610954;

UMLS CUI

C1970431;

Automatic exact mappings (from CISMeF team)
- PTEN hamartoma tumor syndrome [ORDO Disease]
- PTH [MedDRA LLT]
- PTH Gene [NCIt concept]
- PTH wt Allele [NCIt concept]
- Parathyroid Hormone [NCIt concept]
- TCF4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Pitt Hopkins syndrome [Disease (Nov.)]
- Pitt-Hopkins Syndrome [NCIt concept]
- Pitt-Hopkins syndrome [DO Concept]
- Pitt-Hopkins syndrome [ICD-11 More detail]
- Pitt-Hopkins syndrome [MeSH concept]
- Pitt-Hopkins syndrome [MeSH Supplementary Concept]
- Pitt-Hopkins syndrome [ORDO Disease]
- Pitt-Hopkins syndrome (disorder) [SNOMED CT concept]
DO Cross reference
- Pitt-Hopkins syndrome [DO Concept]
Genes related to phenotype
- Transcription factor 4 [OMIM gene]
HPO term(s)
- Abnormal autonomic nervous system physiology [HPO term]
- Absent speech [HPO term]
- Aggressive behavior [HPO term]
- Astigmatism [HPO term]
- Autosomal dominant inheritance [HPO term]
- Clinodactyly [HPO term]
- Clubbing [HPO term]
- Coarse facial features [HPO term]
- Constipation [HPO term]
- Cryptorchidism [HPO term]
- Cupped ear [HPO term]
- Deeply set eye [HPO term]
- Encephalopathy [HPO term]
- Full cheeks [HPO term]
- Gait ataxia [HPO term]
- Gastroesophageal reflux [HPO term]
- Generalized hypotonia [HPO term]
- Hyperventilation [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypotonia [HPO term]
- Incoordination [HPO term]
- Intellectual disability, progressive [HPO term]
- Intellectual disability, severe [HPO term]
- Intermittent hyperventilation [HPO term]
- Microcephaly [HPO term]
- Micropenis [HPO term]
- Motor delay [HPO term]
- Myopia [HPO term]
- Narrow foot [HPO term]
- Narrow forehead [HPO term]
- Open mouth [HPO term]
- Pes planus [HPO term]
- Pes valgus [HPO term]
- Seizure [HPO term]
- Short neck [HPO term]
- Short philtrum [HPO term]
- Single transverse palmar crease [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Upslanted palpebral fissure [HPO term]
- Wide nasal bridge [HPO term]
- Widely spaced teeth [HPO term]
ORDO concept(s)
- Pitt-Hopkins syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Pitt Hopkins syndrome [Disease (Nov.)]
- Pitt-Hopkins Syndrome [NCIt concept]
- Pitt-Hopkins syndrome [ORDO Disease]
- Pitt-Hopkins syndrome [MeSH Supplementary Concept]
- Pitt-Hopkins syndrome [MeSH concept]
- Pitt-Hopkins syndrome [DO Concept]
- Pitt-Hopkins syndrome (disorder) [SNOMED CT concept]
- Pitt-Hopkins-like syndrome [ORDO Disease]

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