type 2 Oto-palato-digital syndrome

aka OPD 2 syndrome or OPD2

Also Known As:

Oto-palato-digital syndrome, type 2; Andre syndrome; Cranio-oro-digital syndrome; Cranioorodigital Syndrome; Faciopalatoosseous syndrome; OPD II Syndrome; OPD Syndrome 2; OPD Syndrome, Type 2; Otopalatodigital Syndrome, Type II; Otopalatodigital syndrome type 2

Networked: 3 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Tracheomalacia
2.	Hyperostosis
3.	Metabolic Bone Diseases (Osteopenia)

Experts

1.	Robertson, Stephen P: 2 articles (05/2007 - 12/2006)
2.	Igarashi, Aiko: 1 article (01/2022)
3.	Imoto, Yoshimasa: 1 article (01/2022)
4.	Ohshima, Yusei: 1 article (01/2022)
5.	Okuno, Takashi: 1 article (01/2022)
6.	Sugihara, Yuka: 1 article (01/2022)
7.	Lapunzina, Pablo: 1 article (05/2007)
8.	Mariño-Enríquez, Adrián: 1 article (05/2007)
9.	Rodríguez, José I: 1 article (05/2007)
10.	Colombani, Marina: 1 article (12/2006)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to type 2 Oto-palato-digital syndrome:

1.	FilaminsIBA 05/15/2007 - "Otopalatodigital syndrome type 2 in two siblings with a novel filamin A 629G>T mutation: clinical, pathological, and molecular findings." 12/01/2006 - "A diagnosis of otopalatodigital syndrome type 2, associated with mutations in FLNA, a gene encoding the cytoskeletal protein filamin A, was considered but discarded due to the severity of micromelia, early lethality, and the presence of generalised osteopenia instead of hyperostosis. "
2.	Retinaldehyde (Retinal)IBA 01/01/2022 - "Retinal folds and tracheomalacia in a boy with otopalatodigital syndrome type 2."
3.	Proteins (Proteins, Gene)FDA Link 12/01/2006 - "A diagnosis of otopalatodigital syndrome type 2, associated with mutations in FLNA, a gene encoding the cytoskeletal protein filamin A, was considered but discarded due to the severity of micromelia, early lethality, and the presence of generalised osteopenia instead of hyperostosis. "