Opitz Gbbb Syndrome, Type Ii malady
Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases
Aliases & Descriptions for Opitz Gbbb Syndrome, Type Ii:
Orphanet epidemiological data:53
Inheritance: Autosomal dominant,X-linked recessive; Prevalence: 1-9/100000 (Europe); Age of onset: Infancy,Neonatal; Age of death: any age
opitz gbbb syndrome, type ii:
Inheritance: autosomal dominant inheritance
Global: Genetic diseases, Rare diseases, Fetal diseases
Anatomical: Neuronal diseases, Eye diseases
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis
NIH Rare Diseases:47 Opitz G/BBB syndrome is an inherited condition that affects several structures along the midline of the body. The most common features are wide-spaced eyes and defects of the larynx, trachea, and/or esophagus causing breathing problems and difficulty swallowing. Affected males usually have a urethra opening on the underside of the penis (hypospadias). Other features can include mild intellectual disability, cleft lip and/or a cleft palate, heart defects, an obstruction of the anal opening (imperforate anus), agenesis of the corpus callosum, and facial abnormalities. These features may vary, even among members of the same family.There are two forms of Opitz G/BBB syndrome, which are distinguished by their genetic causes and patterns of inheritance. The X-linked form is caused by mutations in the MID1 gene. Autosomal dominant Opitz G/BBB syndrome is caused by a deletion of 22q11.2, and is often referred to as 22q11.2 deletion syndrome. Treatment depends on the individual’s specific needs. Last updated: 11/14/2016
MalaCards based summary: Opitz Gbbb Syndrome, Type Ii, also known as opitz-frias syndrome, is related to opitz gbbb syndrome, type i and x-linked opitz g/bbb syndrome, and has symptoms including epicanthus, hypertelorism and anteverted nares. An important gene associated with Opitz Gbbb Syndrome, Type Ii is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like), and among its related pathways are Valine, leucine and isoleucine degradation and Lysine degradation. Affiliated tissues include heart, eye and trachea.
Disease Ontology:11 A monogenic disease that is characterized by hypertelorism, hypospadias, and additional midline defects resulting from mutations to the MID1 gene in the X-linked form or from a deletion on chromosome 22q11.2 in the autosomal dominant form.
Genetics Home Reference:25 Opitz G/BBB syndrome is a genetic condition that causes several abnormalities along the midline of the body. "G/BBB" represents the first letters of the last names of the families first diagnosed with this disorder and "Opitz" is the last name of the doctor who first described the signs and symptoms. There are two forms of Opitz G/BBB syndrome, X-linked Opitz G/BBB syndrome and autosomal dominant Opitz G/BBB syndrome. The two forms are distinguished by their genetic causes and patterns of inheritance. The signs and symptoms of the two forms are generally the same.
OMIM:51 Features of the Opitz GBBB syndrome include hypertelorism or telecanthus; laryngotracheoesophageal cleft; clefts of... (145410) more...
UniProtKB/Swiss-Prot:69 Opitz GBBB syndrome 2: A form of Opitz GBBB syndrome, a congenital midline malformation syndrome characterized by hypertelorism, genital-urinary defects such as hypospadias in males and splayed labia in females, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay and congenital heart defects.
Human phenotypes related to Opitz Gbbb Syndrome, Type Ii:63 53 (show all 71)
MalaCards organs/tissues related to Opitz Gbbb Syndrome, Type Ii:35
Heart, Eye, Trachea, Kidney
UniProtKB/Swiss-Prot genetic disease variations for Opitz Gbbb Syndrome, Type Ii:69
Clinvar genetic disease variations for Opitz Gbbb Syndrome, Type Ii:5
Search GEO for disease gene expression data for Opitz Gbbb Syndrome, Type Ii.
Pathways related to Opitz Gbbb Syndrome, Type Ii according to KEGG:33
Pathways related to Opitz Gbbb Syndrome, Type Ii according to GeneCards Suite gene sharing:
Cellular components related to Opitz Gbbb Syndrome, Type Ii according to GeneCards Suite gene sharing:
Biological processes related to Opitz Gbbb Syndrome, Type Ii according to GeneCards Suite gene sharing:
Molecular functions related to Opitz Gbbb Syndrome, Type Ii according to GeneCards Suite gene sharing:
30ICD10 via Orphanet
39MESH via Orphanet
52OMIM via Orphanet
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
68UMLS via Orphanet