Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate

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

Disease Context: Research Results

Related Diseases

1.	Holoprosencephaly (Arhinencephaly)
2.	Ectrodactyly
3.	Cleft Lip (Harelip)

Experts

1.	Hashimoto, Kunihiko: 1 article (05/2020)
2.	Inui, Ryoko: 1 article (05/2020)
3.	Kobayashi, Sachiko: 1 article (05/2020)
4.	Kondo, Hidehito: 1 article (05/2020)
5.	Maruoka, Azusa: 1 article (05/2020)
6.	Nabatame, Shin: 1 article (05/2020)
7.	Otsuki, Michio: 1 article (05/2020)
8.	Ozono, Keiichi: 1 article (05/2020)
9.	Shimomura, Iichiro: 1 article (05/2020)
10.	Sho, Hiroyuki: 1 article (05/2020)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Holoprosencephaly, Ectrodactyly, and Bilateral Cleft Lip-Palate:

1.	Phosphotransferases (Kinase)IBA 01/01/2016 - "Dominant-negative kinase domain mutations in FGFR1 can explain the clinical severity of Hartsfield syndrome." 01/01/2016 - "Heterozygous kinase domain mutations or homozygous extracellular domain mutations in FGFR1 have been reported to cause Hartsfield syndrome (HS), which is characterized by the triad of holoprosencephaly, ectrodactyly and cleft lip/palate. "
2.	Type 1 Fibroblast Growth Factor Receptor (Fibroblast Growth Factor Receptor 1)IBA 05/01/2020 - "Hartsfield syndrome (HS: OMIM 615465) is a rare congenital disease associated with a mutation of the fibroblast growth factor receptor 1 gene (FGFR1) with the main features of holoprosencephaly and ectrodactyly. "