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Pitt-Hopkins syndrome

Disease Summary
Associated Targets (4)
Tbio

4


Explore Associated Targets
Mondo Description Pitt-Hopkins syndrome (PHS) is characterized by the association of intellectual deficit, characteristic facial dysmorphism and problems of abnormal and irregular breathing.
Uniprot Description A syndrome characterized by mental retardation, wide mouth and distinctive facial features, and intermittent hyperventilation followed by apnea. Features include intellectual disability with severe speech impairment, normal growth parameters at birth, postnatal microcephaly, breathing anomalies, severe motor developmental delay, motor incoordination, ocular anomalies, constipation, seizures, typical behavior and subtle brain abnormalities.
Disease Ontology Description A syndrome characterized by intellectual disability and developmental delay, breathing problems, recurrent seizures (epilepsy), and distinctive facial features. It has material basis in heterozygous de novo mutations in the TCF4 gene in chromosome 18q21.
Mondo Term and Equivalent IDs
MONDO:0012589:  Pitt-Hopkins syndrome
GARD:0004372: 
MESH:C537403: 
NCIT:C129872: 
Orphanet:2896: 
SCTID:702344008: 
UMLS:C1970431: 
GWAS Targets (0)
No GWAS traits found
Disease Hierarchy
Parents
Tbio

4331

Tchem

803

Tdark

604

Tclin

358

Tbio

1763

Tchem

284

Tdark

193

Tclin

124

Tbio

640

Tchem

110

Tclin

48

Tdark

39

Tbio

81

Tclin

33

Tchem

29

Tdark

1

Children
Target Novelty (Tin-x)