Holoprosencephaly (Arhinencephaly)

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117 relevant articles (1 outcomes, 4 trials/studies) found for this Disease

Description: Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage. Alobar prosencephaly is the most severe form and features anophthalmia; cyclopia; severe MENTAL RETARDATION; CLEFT LIP; CLEFT PALATE; SEIZURES; and microcephaly. Semilobar holoprosencepaly is characterized by hypotelorism, microphthalmia, coloboma, nasal malformations, and variable degrees of mental retardation. Lobar holoprosencephaly is associated with mild (or absent) facial malformations and intellectual abilities that range from mild mental retardation to normal. Holoprosencephaly is associated with CHROMOSOME ABNORMALITIES.

Also Known As:

Arhinencephaly; Alobar Holoprosencephalies; Arhinencephalies; Holoprosencephalies; Holoprosencephalies, Alobar; Holoprosencephalies, Lobar; Holoprosencephalies, Semilobar; Holoprosencephaly, Alobar; Holoprosencephaly, Lobar; Holoprosencephaly, Semilobar; Lobar Holoprosencephalies; Semilobar Holoprosencephalies; Alobar Holoprosencephaly; Lobar Holoprosencephaly; Semilobar Holoprosencephaly

Relationship Network

Disease Context: Research Results

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56 Diseases and 48 more articles analyzed in the Research Interface, order at left...

Experts

1.	Naruse, Ichiro: 3 articles (09/2007 - 12/2005)
2.	Ueta, Etsuko: 3 articles (09/2007 - 12/2005)
3.	Katagiri, Ryu-ichi: 2 articles (09/2007 - 09/2006)
4.	Maekawa, Mizuho: 2 articles (09/2006 - 12/2005)
5.	Muenke, Maximilian: 2 articles (06/2005 - 03/2003)
6.	Shiota, Kohei: 1 article (04/2008)
7.	Shikata, Yayoi: 1 article (04/2008)
8.	Aoto, Kazushi: 1 article (04/2008)
9.	Motoyama, Jun: 1 article (04/2008)
10.	Higashiyama, Daisuke: 1 article (04/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Holoprosencephaly:

1.	CholesterolIBA 11/01/2000 - "This review focuses on recent studies aimed at determining how Shh signaling is affected by these causes of holoprosencephaly, whether they involve a common mechanism and the role played by cholesterol" 02/27/2004 - "Defects in cholesterol biosynthesis genes are recognized as a leading cause for holoprosencephaly (HPE)" 03/01/2003 - "The interplay of genetic and environmental factors in craniofacial morphogenesis: holoprosencephaly and the role of cholesterol." 02/01/2001 - "Holoprosencephaly is a common developmental anomaly of the forebrain and midface, that has been associated with mutations in the Sonic Hedgehog gene, and with perturbations of cholesterol synthesis and metabolism in mammalian embryos" 11/01/2000 - "The role of cholesterol in Shh signaling and teratogen-induced holoprosencephaly." Get all the results and reference details, order at left...
2.	trans- 1,4- Bis(2- chlorobenzaminomethyl)cyclohexane DihydrochlorideIBA 03/01/1998 - "In previous studies, early administration of the 7DHC-reductase inhibitor AY9944 to pregnant rats resulted in a high frequency of holoprosencephaly, relevant to craniofacial anomalies of SLOS" 03/01/1998 - "The malformations could have been caused by the same mechanism as holoprosencephaly after early treatment with AY9944" 06/01/1988 - "Pituitary agenesis was the most constant element of holoprosencephaly when AY 9944 was administered on d 4 of gestation at two dosages, 50 or 75 mg/kg. The rate of malformed fetuses was dose related" 05/01/1984 - "A single dose of AY 9944 (50 mg/kg or 75 mg/kg) given to Wistar pregnant rats on the second, fourth, sixth, seventh, or eighth day of gestation induced malformations such as holoprosencephaly" 09/01/1996 - "Our aim is to verify the validity of a rat model proposed for Smith-Lemli-Opitz (SLO) syndrome, a developmental disorder characterized by a defect in 7-dehydrocholesterol-delta 7 (7DHC)-reductase and by facial dysmorphism close to the holoprosencephaly caused by the teratogen AY9944" Get all the results and reference details, order at left...
3.	cyclopamineIBA 01/01/1998 - "We have begun to study the pathogenesis of cyclopamine-induced holoprosencephaly and associated craniofacial anomalies in Syrian golden hamsters (Mesocricetus auratus)" 07/01/2006 - "We previously created an animal model of holoprosencephaly by administration of cyclopamine, a specific inhibitor of hedgehog signaling, to the mouse embryos cultured in vitro, and found several types of angiogenic defects" 09/01/1998 - "The steroidal alkaloid cyclopamine produces cyclopia and holoprosencephaly when administered to gastrulation-stage amniote embryos" 01/01/1998 - "Exposure to cyclopamine, a steroid isolated from the desert plant Veratrum californicum, causes holoprosencephaly in mammalian embryos" 01/01/1998 - "Cyclopamine-induced holoprosencephaly and associated craniofacial malformations in the golden hamster: anatomic and molecular events." Get all the results and reference details, order at left...
4.	p-Aminosalicylic Acid (PAS)FDA Link 04/01/2005 - "Results: The study disclosed 82.5% associated lesions with MRI (28/34): 11 neuronal migration disorders, 9 holoprosencephalies (HP), 7 pituitary stalk interruptions, 1 corpus callosum partial agenesis; 17.5% (6/34) of cases were apparently isolated PAS" Get all the results and reference details, order at left...
5.	Ethanol (Ethyl Alcohol)IBA 07/01/2007 - "CONCLUSIONS: The results indicate that ethanol may perturb the expression of some developmental genes at a critical stage of embryonic development and induce holoprosencephaly and other midline craniofacial malformations, including histological brain abnormalities." 06/01/2004 - "Holoprosencephaly and thymus hypoplasia observed in diabetic groups were found to be reduced in frequency in the diabetes plus ethanol groups, suggesting an antagonistic type of ethanol-diabetes interaction, stage-dependently" 07/01/1991 - "Holoprosencephaly in a fetal macaque (Macaca nemestrina) following weekly exposure to ethanol." 01/01/1982 - "A spectrum of abnormal faces associated with variable degrees of holoprosencephaly were induced in mice by acute maternal ethanol administration during gastrulation stages of embryonic development" 04/01/2008 - "BACKGROUND: In humans, fetal ethanol exposure can cause holoprosencephaly (HPE), one of the most common birth defects that is characterized by brain, facial, and oral abnormalities" Get all the results and reference details, order at left...
6.	Transcription Factors (Transcription Factor)IBA 10/01/2008 - "The putative transcription factor ZIC2 is associated with a defect of forebrain development, known as Holoprosencephaly (HPE), in humans and mouse, yet the mechanism by which aberrant ZIC2 function causes classical HPE is unexplained" 08/02/2007 - "Here, we show that Six3, a transcription factor essential for forebrain formation and associated with holoprosencephaly in humans, regulates diencephalic Nodal activity during initial establishment of brain asymmetry" 05/01/2006 - "Furthermore, nonlinear effects of Fgf8 gene dose on the expression of a subset of genes, including Bmp4 and Msx1, correlate with a holoprosencephaly phenotype and with the nonlinear expression of transcription factors that regulate neocortical patterning" 02/01/2005 - "Heterozygous loss-of-function mutations in ZIC2 result in the severe brain malformation known as holoprosencephaly (HPE), indicating that forebrain development is exquisitely sensitive to the activity of this poorly understood transcription factor" 04/01/2001 - "We report on the prevalence of mutations in the zinc finger transcription factor gene, ZIC2, in a group of 509 unrelated individuals with isolated holoprosencephaly (HPE) and normal chromosomes" Get all the results and reference details, order at left...
7.	Minocycline (Cyclops)FDA LinkGeneric 04/01/1993 - "Autosomal recessive alobar holoprosencephaly with cyclops in three female sibs: prenatal ultrasonographic diagnosis at 18th week." 01/01/1989 - "Cyclops represents the worst form of a rare malformation of the brain and face: holoprosencephaly" 07/01/1985 - "Central nervous system of a 12 mm human embryo with complete cyclops: a case of holoprosencephaly]" 03/16/1979 - "Holoprosencephaly and trisomy 13 in a cyclops." Get all the results and reference details, order at left...
8.	Dihydrotachysterol (AT 10)IBA 01/01/2000 - "Holoprosencephaly at 10 weeks 2 days (CRL 33 mm)." 09/01/1999 - "A case of alobar holoprosencephaly diagnosed at 10 + 3 weeks' gestation by transabdominal and transvaginal ultrasound examination followed by histological confirmation is presented" 09/01/1999 - "Hi