H00756 | |
H number | H00756 |
Name | Pitt-Hopkins syndrome |
Description | Pitt-Hopkins Syndrome (PTHS) is a rare disorder of severe mental retardation. Facial dysmorphism include a beaked nose, flared nostrils, and a wide mouth with a 'cupid's-bow' shaped upper lip. A particular breathing pattern is characteristic of PTHS. The defective gene is TCF4 in PTHS, and in patients who show severe mental retardation and other features resembling PTHS have mutations in CNTNAP2 and Neurexin I. |
Category | Congenital malformation |
Network | - |
Gene | (PTHS) TCF4 [HSA:6925] [KO:K15603] (PTHSL1) CNTNAP2 [HSA:26047] [KO:K07380] (PTHSL2) NRXN1 [HSA:9378] [KO:K07377] |
Pathogen | - |
Env factor | - |
Carcinogen | - |
Drug | - |
Comment | - |
Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.0 MeSH: C537403 OMIM: 610954 610042 614325 |
Reference | PMID:9475596 AUTHORS Van Balkom ID, Quartel S, Hennekam RC TITLE Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. JOURNAL Am J Med Genet 75:273-6 (1998) DOI:10.1002/(SICI)1096-8628(19980123)75:3<273::AID-AJMG9>3.0.CO;2-R PMID:20205897 (TCF4) AUTHORS Taddeucci G, Bonuccelli A, Mantellassi I, Orsini A, Tarantino E TITLE Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. JOURNAL Ital J Pediatr 36:12 (2010) DOI:10.1186/1824-7288-36-12 PMID:27439707 (CNTNAP2) AUTHORS Smogavec M, Cleall A, Hoyer J, Lederer D, Nassogne MC, Palmer EE, Deprez M, Benoit V, Maystadt I, Noakes C, Leal A, Shaw M, Gecz J, Raymond L, Reis A, Shears D, Brockmann K, Zweier C TITLE Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum. JOURNAL J Med Genet 53:820-827 (2016) DOI:10.1136/jmedgenet-2016-103880 PMID:19896112 (CNTNAP2 and NRXN1) AUTHORS Zweier C, de Jong EK, Zweier M, Orrico A, Ousager LB, Collins AL, Bijlsma EK, Oortveld MA, Ekici AB, Reis A, Schenck A, Rauch A TITLE CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. JOURNAL Am J Hum Genet 85:655-66 (2009) DOI:10.1016/j.ajhg.2009.10.004 |