Genee-Wiedemann syndrome

A rare autosomal recessive disorder characterized clinically by severe micrognathia, CLEFT LIP or CLEFT PALATE, hypoplasia or aplasia of the postaxial elements of the limbs, COLOBOMA of the eyelids, and supernumerary nipples. Mutations in the DHODH gene have been identified. OMIM: 263750

Also Known As:

Genee-Wiedemann acrofacial dysostosis; Miller syndrome; POADS syndrome; Postaxial Acrofacial Dysostosis; Postaxial Acrofacial Dysostosis (POADS); Postaxial acrofacial dysostosis (POADS) syndrome; Wildervanck-Smith syndrome

Networked: 20 relevant articles (0 outcomes, 1 trials/studies)

Disease Context: Research Results

Related Diseases

1.	Mitochondrial Diseases (Mitochondrial Disease)
2.	Genee-Wiedemann syndrome
3.	Dysostoses
4.	Inborn Genetic Diseases (Disease, Hereditary)
5.	Nager type Acrofacial dysostosis

Experts

1.	Kang, Dongchon: 4 articles (01/2017 - 12/2012)
2.	Uchiumi, Takeshi: 4 articles (01/2017 - 12/2012)
3.	Knecht, Wolfgang: 3 articles (02/2022 - 01/2020)
4.	Wacklin-Knecht, Hanna: 3 articles (02/2022 - 01/2020)
5.	Fang, JingXian: 3 articles (01/2016 - 12/2012)
6.	Nonaka, Kazuaki: 3 articles (01/2016 - 12/2012)
7.	Yamaza, Haruyoshi: 3 articles (01/2016 - 12/2012)
8.	Orozco Rodriguez, Juan Manuel: 2 articles (02/2022 - 01/2022)
9.	Krupinska, Ewa: 2 articles (01/2022 - 01/2020)
10.	Bamshad, Michael J: 2 articles (01/2016 - 01/2010)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Genee-Wiedemann syndrome:

1.	Dihydroorotate DehydrogenaseIBA 01/01/2023 - "These findings provided with the first exonic deletion and first splice site variant in DHODH, which expanded the mutation spectrum of Miller syndrome and offered reliable evidence for genetic counseling to the affected family." 01/01/2023 - "The affected fetus displayed typical manifestations of Miller syndrome, and WES identified a diagnostic compound heterozygous variation in DHODH, consisting of two variants: exon(1-3)del and c.819 + 5G > A. " 01/01/2023 - "Assessment of a novel variation in DHODH gene causing Miller syndrome: The first report in Chinese population." 01/01/2022 - "Miller syndrome is a rare Mendelian disorder caused by mutations in the gene encoding human dihydroorotate dehydrogenase (DHODH). " 01/01/2016 - "To explore the etiology of Miller syndrome in more detail, we investigated the effects of DHODH inhibition in the cells involved in skeletal structure. "
2.	EnzymesIBA 01/01/2022 - "We then describe the production and characterization of three distinct DHODH missense mutations (G19E, E52G, R135C) associated with Miller syndrome by means of enzyme kinetics and biophysical techniques. " 01/01/2016 - "Miller syndrome (post-axial acrofacial dysostosis) arises from gene mutations for the mitochondrial enzyme dihydroorotate dehydrogenase (DHODH). " 09/15/2012 - "Biallelic mutations in the gene encoding DHOdehase [dihydroorotate dehydrogenase (DHODH)], an enzyme required for de novo pyrimidine biosynthesis, have been identified as the cause of Miller (Genée-Weidemann or postaxial acrofacial dysostosis) syndrome (MIM 263750). " 01/01/2021 - "Mutations in the pyrimidine biosynthesis enzyme dihydroorotate dehydrogenase (DHODH) particularly affect neural crest-derived tissues and cause Miller syndrome, a genetic disorder characterized by craniofacial malformations in patients. "
3.	Proteins (Proteins, Gene)FDA Link 01/01/2022 - "Protein production, kinetic and biophysical characterization of three human dihydroorotate dehydrogenase mutants associated with Miller syndrome." 12/01/2012 - "Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients." 01/01/2022 - "To the best of our knowledge, this is the first investigation of the protein-lipid interactions of DHODH variants associated with Miller syndrome." 01/01/2022 - "Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome."
4.	pyrimidineIBA 02/05/2013 - "Considering that pyrimidine deficiency alone does not induce craniofacial dysmorphism, the DHODH mutations may contribute to the Miller syndrome in part through somehow altered mitochondrial function." 09/15/2012 - "Biallelic mutations in the gene encoding DHOdehase [dihydroorotate dehydrogenase (DHODH)], an enzyme required for de novo pyrimidine biosynthesis, have been identified as the cause of Miller (Genée-Weidemann or postaxial acrofacial dysostosis) syndrome (MIM 263750). " 01/01/2021 - "Mutations in the pyrimidine biosynthesis enzyme dihydroorotate dehydrogenase (DHODH) particularly affect neural crest-derived tissues and cause Miller syndrome, a genetic disorder characterized by craniofacial malformations in patients. "
5.	UridineIBA 01/01/2016 - "Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine."
6.	QuartzIBA 01/01/2022 - "Here, we describe the interaction between wild-type DHODH and three DHODH mutants associated with Miller syndrome and lipids using enzymatic assays, thermal stability assays and Quartz Crystal Microbalance with Dissipation monitoring (QCM-D). "
7.	LipidsIBA 01/01/2022 - "To the best of our knowledge, this is the first investigation of the protein-lipid interactions of DHODH variants associated with Miller syndrome." 01/01/2022 - "Here, we describe the interaction between wild-type DHODH and three DHODH mutants associated with Miller syndrome and lipids using enzymatic assays, thermal stability assays and Quartz Crystal Microbalance with Dissipation monitoring (QCM-D). " 01/01/2022 - "Protein-lipid interactions of human dihydroorotate dehydrogenase and three mutants associated with Miller syndrome."
8.	Lipid Bilayers (Lipid Bilayer)IBA 01/01/2022 - "Additionally, the results from QCM-D show that the Miller syndrome mutants studied differ in their interactions with supported lipid bilayers compared to wild-type DHODH. "
9.	DNA (Deoxyribonucleic Acid)IBA 11/01/2000 - "We obtained DNA samples from eight patients with NAFD, as well as two patients with Miller syndrome, and analyzed them for mutations in the PRRX1 and PRRX2 genes. "
10.	Amantadine (Aman)FDA LinkGeneric 07/01/2001 - "The most frequent subtype was acute inflammatory-demyelinating polyneuropathy (AIDP) in 18 patients (64%), acute motor-sensory axonal neuropathy (AMSAN) in 5 (18%), acute motor axonal neuropathy (AMAN) in 3 (11%) and 2 patients (7%) had the Fisher-Miller syndrome. "