X-Linked Opitz GBBB Syndrome

Also Known As:

Opitz GBBB Syndrome, X-Linked; Opitz BBBG Syndrome, Type I; Opitz GBBB Syndrome, Type I; Opitz Syndrome; Opitz Syndrome, X-Linked; Opitz-G Syndrome, Type I; X-Linked Opitz Syndrome (XLOS)

Networked: 24 relevant articles (0 outcomes, 0 trials/studies)

Disease Context: Research Results

Musculoskeletal Diseases: 719
Stomatognathic Diseases: 705
Congenital, Hereditary, and Neonatal Diseases and Abnormalities: 933
- Congenital Abnormalities: 25723
- Inborn Genetic Diseases: 11939
  - X-Linked Genetic Diseases: 42
    - X-Linked Opitz GBBB Syndrome: 24
Digestive System
- Gastrointestinal Tract
  - Upper Gastrointestinal Tract
    - Esophagus
      - X-Linked Opitz GBBB Syndrome: 24
Urogenital Diseases: 126

Related Diseases

1.	Intellectual Disability (Idiocy)
2.	Hypophosphatemic Rickets
3.	Argininosuccinic Aciduria
4.	Infantile Refsum Disease (Infantile Phytanic Acid Storage Disease)
5.	Hypoalphalipoproteinemias (Hypoalphalipoproteinemia)

Experts

1.	Cox, Timothy C: 4 articles (05/2007 - 01/2002)
2.	Short, Kieran M: 3 articles (05/2007 - 01/2002)
3.	Schweiger, Susann: 2 articles (05/2011 - 03/2008)
4.	Brautigan, David L: 2 articles (06/2007 - 08/2002)
5.	Yi, Zou: 2 articles (05/2007 - 01/2002)
6.	Biberoğlu, Gürsel: 1 article (01/2021)
7.	Ezgü, Fatih Süheyl: 1 article (01/2021)
8.	Güney, Esra: 1 article (01/2021)
9.	Okur, İlyas: 1 article (01/2021)
10.	Tümer, Leyla: 1 article (01/2021)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to X-Linked Opitz GBBB Syndrome:

1.	Proteins (Proteins, Gene)FDA Link 06/15/2010 - "MADD-2 is a C1-TRIM protein and a homolog of human MID1, mutations in which cause Opitz Syndrome. " 06/15/2010 - "MADD-2, a homolog of the Opitz syndrome protein MID1, regulates guidance to the midline through UNC-40 in Caenorhabditis elegans." 01/15/2005 - "Evidence of functional redundancy between MID proteins: implications for the presentation of Opitz syndrome." 01/01/2002 - "The X-linked form of Opitz syndrome (OS) is caused by loss of function of the microtubule-associated MID1 protein. " 12/15/1999 - "FXY2/MID2, a gene related to the X-linked Opitz syndrome gene FXY/MID1, maps to Xq22 and encodes a FNIII domain-containing protein that associates with microtubules."
2.	CholesterolIBA 05/01/2008 - "Opitz syndrome is a rare autosomal recessive disorder of cholesterol metabolism associated with mental retardation and multiple congenital malformations. " 02/01/2008 - "A major impetus for further inquiry is the recognition that in genetically determined errors in cholesterol synthesis such as Smith-Lemil-Opitz syndrome, the phenotypic effects on the developing fetus are not solely attributable to the lack of cholesterol but the accumulation of 7-dehydrocholesterol and its 27-hydroxy metabolite. " 01/01/2008 - "Furthermore, the high concentrations of some plasma sterols could point to the inborn errors of cholesterol biosynthesis (Smith-Laemli-Opitz syndrome), transport (sitosterolemia) or metabolization (cerebrotendinous xanthomatosis). "
3.	NocodazoleIBA 11/19/2002 - "Using this approach, we have identified a novel MAP, GLFND, that shows homology to the Opitz syndrome gene product [6], localizes to a subpopulation of microtubules that are acetylated, and protects microtubules from depolymerization with nocodazole. " 06/01/2007 - "The response was diminished by nocodazole or by siRNA knockdown of the Opitz syndrome protein Mid1 that binds alpha-4 to microtubules. "
4.	Phosphoric Monoester Hydrolases (Phosphatases)IBA 11/15/2003 - "Alpha 4 is a regulatory subunit of the major cellular phosphatase, PP2A, that has recently been shown to interact with MID1, the product of the gene mutated in X-linked Opitz GBBB syndrome. " 11/01/2001 - "MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation."
5.	Protein Phosphatase 2 (Protein Phosphatase 2A)IBA 06/05/2001 - "Phosphorylation and microtubule association of the Opitz syndrome protein mid-1 is regulated by protein phosphatase 2A via binding to the regulatory subunit alpha 4."
6.	Apolipoprotein C-IIIIBA 06/01/2005 - "The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05). "
7.	Small Interfering RNA (siRNA)IBA 06/01/2007 - "The response was diminished by nocodazole or by siRNA knockdown of the Opitz syndrome protein Mid1 that binds alpha-4 to microtubules. "
8.	UbiquitinIBA 11/01/2001 - "MID1, mutated in Opitz syndrome, encodes an ubiquitin ligase that targets phosphatase 2A for degradation."
9.	Sirolimus (Rapamycin)FDA Link 01/01/2002 - "MID1 and MID2 homo- and heterodimerise to tether the rapamycin-sensitive PP2A regulatory subunit, alpha 4, to microtubules: implications for the clinical variability of X-linked Opitz GBBB syndrome and other developmental disorders."
10.	Racemases and Epimerases (Epimerases and Racemases)IBA 06/01/2005 - "The 20 genes with at least a 3-fold change, annotated with known phenotypic associations in the current gene databank (phenotype association, fold change) were aspartoacylase (Canavan disease, 9.96), growth hormone receptor (Laron dwarfism, idiopathic short stature, 8.25), lipoprotein lipase (familial chylomicronemia syndrome, lipoprotein lipase deficiency, 8.00), vitamin D (1,25- dihydroxyvitamin D3) receptor (involutional osteoporosis, vitamin D resistant rickets, 7.94), intercellular adhesion molecule 1 human rhinovirus receptor (cerebral malaria susceptibility, 7.16), peroxisomal membrane protein 3 35-kDa (Refsum disease, infantile form, Zellweger syndrome-3, 6.00), Bardet-Biedl syndrome 2 (Bardet-Biedl syndrome, 5.87), ribosomal protein S19 (Diamond Blackfan anemia, 5.85), apolipoprotein C-III (hypertriglyceridemia, 5.44), argininosuccinate lyase (argininosuccinicaciduria, 5.22), myosin VA (Griscelli syndrome-type pigmentary dilution with mental retardation, 4.92), lysozyme (renal amyloidosis, 4.17), SAM domain, SH3 domain and nuclear localisation signals 1 (Cherubism, 4.12 ), von Hippel-Lindau syndrome (hemangioblastoma, cerebellar, somatic, von Hippel-Lindau syndrome, 3.94), early-onset breast cancer 1 (BRCA1, papillary serous carcinoma of the peritoneum, 3.73), UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (inclusion body myopathy, autosomal recessive, sialuria, 3.53), apolipoprotein A-I (amyloidosis, 3 or more types, hypoalphalipoproteinemia, 3.29), midline 1 Opitz/BBB syndrome (Opitz G syndrome, type I, 3.28), ATPase, Na+/K+ transporting, alpha 2 (+) polypeptide (familial hemiplegic migraine, 3.05). "