Pitt-Hopkins Syndrome (PHS) malady

NIH Rare Diseases:⁴³ Pitt-hopkins syndrome is a genetic condition characterized by intellectual disability, a wide mouth, other distinctive facial features, and abnormal breathing (i.e., periodic hyperventilation followed by apnea). it is believed that the syndrome is associated with mutations in the tcf4 transcription factor gene. the majority of cases reported thus far are believed to be sporadic; therefore, most of the individuals who have pitt-hopkins syndrome do not have any family members with the condition. treatment is symptomatic. last updated: 11/26/2013

MalaCards: Pitt-Hopkins Syndrome, also known as pitt hopkins syndrome, is related to phosphorylase kinase deficiency and muscle phosphorylase kinase deficiency, and has symptoms including microcephaly, deepset eyes/enophthalmos and anteverted nares/nostrils. An important gene associated with Pitt-Hopkins Syndrome is TCF4 (transcription factor 4), and among its related pathways are WNT Signaling and Wnt signaling pathway. The compound mononucleotide have been mentioned in the context of this disorder. Related mouse phenotypes are nervous system and behavior/neurological.

Genetics Home Reference:²¹ Pitt-Hopkins syndrome is a condition characterized by intellectual disability and developmental delay which range from moderate to severe, breathing problems, recurrent seizures (epilepsy), and distinctive facial features.

Description from OMIM:⁴⁷ 610954

GeneReviews summary for pitt-hopkins

External Ids:

OMIM47 610954 MESH via Orphanet36 C537403

UMLS via Orphanet62 C1970431

Clinical features from OMIM:

610954

Clinical synopsis from OMIM:

610954

Symptoms:

⁴⁹ (show all 24)

microcephaly deepset eyes/enophthalmos anteverted nares/nostrils macrostomia/big mouth thick lips palate anomalies abnormal dentition/dental position/implantation/unerupted/dental ankylosis helix thickened/sculpted gastroesophageal reflux/pyrosis/esophagitis/hiatal hernia/gastroparesia constipation ataxia/incoordination/trouble of the equilibrium hypotonia

speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia intellectual deficit/mental/psychomotor retardation/learning disability autosomal dominant inheritance failure to thrive/difficulties for feeding in infancy/growth delay myopia tapered fingers respiratory rhythm disorder apnea/sleep apnea undescended/ectopic testes/cryptorchidia/unfixed testes seizures/epilepsy/absences/spasms/status epilepticus irregular/patchy skin hypopigmentation micropenis/small penis/agenesis

Search GEO for disease gene expression data for Pitt-Hopkins Syndrome.