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Microphthalmia
Microphthalmia (Greek: grc, μικρός, mikros, small, label=none, grc, ὀφθαλμός, ophthalmos, eye, label=none, also referred as microphthalmos, is a developmental disorder of the eye in which one (unilateral microphthalmia) or both (bilateral microphthalmia) eyes are abnormally small and have anatomic malformations. Microphthalmia is a distinct condition from anophthalmia and nanophthalmia. Although sometimes referred to as 'simple microphthalmia', nanophthalmia is a condition in which the size of the eye is small but no anatomical alterations are present. Presentation Microphthalmia is a congenital disorder in which the globe of the eye is unusually small and structurally disorganized. While the axis of an adult human eye has an average length of about , a diagnosis of microphthalmia generally corresponds to an axial length below in adults. Additionally, the diameter of the cornea is about in affected newborns and in adults with the condition. The presence of a s ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anophthalmia
Anophthalmia, (Greek: ἀνόφθαλμος, "without eye"), is the medical term for the absence of one or both eyes. Both the globe (human eye) and the ocular tissue are missing from the orbit. The absence of the eye will cause a small bony orbit, a constricted mucosal socket, short eyelids, reduced palpebral fissure and malar prominence. Genetic mutations, chromosomal abnormalities, and prenatal environment can all cause anophthalmia. Anophthalmia is an extremely rare disease and is mostly rooted in genetic abnormalities. It can also be associated with other syndromes. Causes ''SOX2'' The most common genetic cause for anophthalmia is mutated SOX2 gene. Sox2 anophthalmia syndrome is caused by a mutation in the Sox2 gene that does not allow it to produce the Sox2 protein that regulates the activity of other genes by binding to certain regions of DNA. Without this Sox2 protein, the activity of genes that is important for the development of the eye is disrupted. Sox2 anophthalmi ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CHD7
Chromodomain-helicase-DNA-binding protein 7 also known as ATP-dependent helicase CHD7 is an enzyme that in humans is encoded by the ''CHD7'' gene. CHD7 is an ATP-dependent chromatin remodeler homologous to the Drosophila trithorax-group protein Kismet. Mutations in CHD7 are associated with CHARGE syndrome. This protein belongs to a larger group of ATP-dependent chromatin remodeling complexes, the CHD subfamily. Model organisms Model organisms have been used in the study of CHD7 function. A conditional knockout mouse line, called ''Chd7tm2a(EUCOMM)Wtsi'' was generated as part of the International Knockout Mouse Consortium program — a high-throughput mutagenesis project to generate and distribute animal models of disease to interested scientists. Male and female animals underwent a standardized phenotypic screen to determine the effects of deletion. Twenty four tests were carried out on mutant mice and five significant abnormalities were observed. No homozygous mutant ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Oculofaciocardiodental Syndrome
Oculofaciocardiodental syndrome is a rare X-linked dominant genetic disorder. Presentation The incidence of this condition is less than 1 per million. It is primarily only found in females. Its highly rare in males, but some males were born with it. Teeth with large roots (radiculomegaly), heart defects and small eyes (microphthalmia) are the characteristic triad found in this syndrome. Typical features of the condition include: * Face ** Deep set eyes ** Broad nasal tip divided by a cleft * Eyes ** Microphthalmia (small eyes) ** Early cataracts ** Glaucoma * Teeth ** Radiculomegaly (teeth with very large roots) ** Delayed loss of primary teeth ** Missing (oligodontia) or abnormally small teeth ** Misaligned teeth ** Defective tooth enamel * Heart defects ** Atrial and/or ventricular defects ** Mitral valve prolapse * Mild intellectual disability and conductive or sensorineural hearing loss may occur. Genetics This condition is caused by lesions in the '' BCOR'' gene locat ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Lenz Microphthalmia Syndrome
Lenz microphthalmia syndrome is a very rare inherited disorder characterized by abnormal smallness of one or both eyes ( microphthalmos) sometimes with droopy eyelids ( blepharoptosis), resulting in visual impairment or blindness. Eye problems may include coloboma, microcornea, and glaucoma. Some affected infants may have complete absence of the eyes (anophthalmia). Most affected infants have developmental delay and intellectual disability, ranging from mild to severe. Other physical abnormalities associated with this disorder can include an unusually small head (microcephaly), and malformations of the teeth, ears, fingers or toes, skeleton, and genitourinary system. The range and severity of findings vary from case to case. Formal diagnosis criteria do not exist. Lenz microphthalmia syndrome is also known as LMS, Lenz syndrome, Lenz dysplasia, Lenz dysmorphogenetic syndrome, or microphthalmia with multiple associated anomalies (MAA: OMIM 309800). It is named after Widukind Lenz, a ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
ABCB6
ATP-binding cassette super-family B member 6, mitochondrial is a protein that in humans is encoded by the ''ABCB6'' gene. The membrane-associated protein encoded by this gene is a member of the superfamily of ATP-binding cassette (ABC) transporters. ABC proteins transport various molecules across extra- and intra-cellular membranes. ABC genes are divided into seven distinct subfamilies (ABC1, MDR/TAP, MRP, ALD, OABP, GCN20, White). This protein is a member of the MDR/TAP subfamily. Members of the MDR/TAP subfamily are involved in multidrug resistance as well as antigen presentation. This half-transporter likely plays a role in mitochondrial function. Localized to 2q26, this gene is considered a candidate gene for Dyschromatosis Universalis Hereditaria, a disorder of skin pigment metabolism. The protein also carries the Lan antigen, which defines the Lan blood group system. See also * ATP-binding cassette transporter The ATP synthase, ATP-binding cassette transporters ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
COX7B
Cytochrome c oxidase subunit 7B, mitochondrial (COX7B) is an enzyme that in humans is encoded by the ''COX7B'' gene. COX7B is a nuclear-encoded subunit of cytochrome c oxidase (COX). Cytochrome c oxidase (complex IV) is a multi-subunit enzyme complex that couples the transfer of electrons from cytochrome c to molecular oxygen and contributes to a proton electrochemical gradient across the inner mitochondrial membrane, acting as the terminal enzyme of the mitochondrial respiratory chain. Work with Oryzias latices has linked disruptions in COX7B with microphthalmia with linear skin lesions (MLS), microcephaly, and mitochondrial disease. Clinically, mutations in ''COX7B'' have been associated with linear skin defects with multiple congenital anomalies. Structure ''COX7B'' is located on the q arm of the X chromosome in position 21.1 and has 3 exons. The ''COX7B'' gene produces a 9.2 kDa protein composed of 80 amino acids. COX7B is one of the nuclear-encoded polypeptide chains o ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CLDN19
Claudin-19 is a protein that in humans is encoded by the ''CLDN19'' gene. It belongs to the group of claudin Claudins are a family of proteins which, along with occludin, are the most important components of the tight junctions ( zonulae occludentes). Tight junctions establish the paracellular barrier that controls the flow of molecules in the interce ...s. Claudin-19 has been implicated in magnesium transport. Claudins, such as CLDN19, are transmembrane proteins found at tight junctions. Tight junctions form barriers that control the passage of ions and molecules across an epithelial sheet and the movement of proteins and lipids between apical and basolateral domains of epithelial cells (Lee et al., 2006). upplied by OMIMref name="entrez"> References External links * Further reading * * * * * * * * * * * {{gene-1-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
CC2D2A
Coiled-coil and C2 domain-containing protein 2A that in humans is encoded by the ''CC2D2A'' gene. Function This gene encodes a coiled-coil and calcium binding domain protein that appears to play a critical role in cilia formation. Clinical significance Mutations in the CC2D2A gene are associated with Meckel syndrome as well as Joubert syndrome Joubert syndrome is a rare autosomal recessive genetic disorder that affects the cerebellum, an area of the brain that controls balance and coordination. Joubert syndrome is one of the many genetic syndromes associated with syndromic retinitis pi .... References External links * Further reading * * * * * * * * * {{gene-4-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
C12orf57
C1, C01, C.I or C-1 may refer to: Arts and media * C1, a note-octave in music * C1 Television, a Mongolian television channel * Schecter C-1 Hellraiser FR, a guitar model * A Yamaha grand piano model * "C1", a slang expression in the video game ''Counter-Strike'', used to express agreement Biology and medicine Anatomy * Cervical vertebra 1, the first cervical vertebrae of the vertebral column * Cervical spinal nerve 1, a spinal nerve of the cervical segment Biochemistry * C1 complex, the first component of the classical complement pathway * C1 domain, an important secondary messenger protein domain * C1-inhibitor, a human serine protease inhibitor * C1 regulatory sequence for the insulin gene * Apolipoprotein C1, a human lipoprotein * Chlorophyll c1, a form of chlorophyll * Cytochrome C1, a precursor protein to Cytochrome C * Proanthocyanidin C1, a type of polyphenolic compound * Prostaglandin C1, a form of prostaglandins Other uses in biology and medicine * C1 and P1 ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Morphogenetic Protein 7
Bone morphogenetic protein 7 or BMP7 (also known as osteogenic protein-1 or OP-1) is a protein that in humans is encoded by the ''BMP7'' gene. Function The protein encoded by this gene is a member of the TGF-β superfamily. Like other members of the bone morphogenetic protein family of proteins, it plays a key role in the transformation of mesenchymal cells into bone and cartilage. It is inhibited by noggin and a similar protein, chordin, which are expressed in the Spemann-Mangold Organizer. BMP7 may be involved in bone homeostasis. It is expressed in the brain, kidneys and bladder. BMP7 induces the phosphorylation of SMAD1 and SMAD5, which in turn induce transcription of numerous osteogenic genes. It has been demonstrated that BMP7 treatment is sufficient to induce all of the genetic markers of osteoblast differentiation in many cell types. Role in vertebrate development The role of BMP7 in mammalian kidney development is through induction of MET of the metanephrogenic bl ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Bone Morphogenetic Protein 4
Bone morphogenetic protein 4 is a protein that in humans is encoded by ''BMP4'' gene. BMP4 is found on chromosome 14q22-q23. BMP4 is a member of the bone morphogenetic protein family which is part of the transforming growth factor-beta superfamily. The superfamily includes large families of growth and differentiation factors. BMP4 is highly conserved evolutionarily. BMP4 is found in early embryonic development in the ventral marginal zone and in the eye, heart blood and otic vesicle. Discovery Bone morphogenetic proteins were originally identified by an ability of demineralized bone extract to induce endochondral osteogenesis in vivo in an extraskeletal site. Function BMP4 is a polypeptide belonging to the TGF-β superfamily of proteins. It, like other bone morphogenetic proteins, is involved in bone and cartilage development, specifically tooth and limb development and fracture repair. This particular family member plays an important role in the onset of endochondral bone ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
