Opitz gbbb syndrome

Preferred Label : Opitz gbbb syndrome;

Symbol : GBBB;

CISMeF acronym : BBBG1; GBBB1; OGS1; OS; OSX;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Opitz syndrome; Opitz gbbb syndrome, X-linked; Opitz syndrome, X-linked; OSX; Opitz bbbg syndrome, type I; Hypertelorism with esophageal abnormality and hypospadias; OGS1; Opitz-g syndrome, type I; OS; Hypertelorism-hypospadias syndrome; Telecanthus-hypospadias syndrome; BBBG1; GBBB1; Opitz gbbb syndrome, type I;

Description : The Opitz GBBB syndrome is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal abnormalities, imperforate anus, developmental delay, and cardiac defects (So et al., 2005). This disorder was first reported as 2 separate entities, BBB syndrome and G syndrome; subsequent reports of families in which the BBB and G syndromes segregated within a single kindred suggested that they represent a single entity. Opitz GBBB syndrome is genetically heterogeneous, with both X-linked and autosomal dominant (145410) forms.;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutations in the midline 1 gene (MID1, 300000.0001);

Prefixed ID : #300000;

Details

Origin ID

300000;

UMLS CUI

C2936904;

Automatic exact mappings (from CISMeF team)
- Bone [NCIt concept]
- Bone [FMA entity]
- Bone [ICNP localization]
- Bone [LOINC System]
- Bone organ [FMA entity]
- Bone tissue [ICD-11 Extension code]
- Bone tissue [FMA entity]
- Bones [ICD-11 Extension code]
- Bones [LOINC System]
- Early Infantile Epileptic Encephalopathy with Burst-Suppression [NCIt concept]
- Left Eye [NCIt concept]
- Left eye [FMA entity]
- Lower case Roman letter o (qualifier value) [SNOMED CT concept]
- MID1 wt Allele [NCIt concept]
- Observation Stay [NCIt concept]
- Opening snap (finding) [SNOMED CT concept]
- Operating System [NCIt concept]
- Opitz GBBB syndrome type I [DO Concept]
- Oral route (qualifier value) [SNOMED CT concept]
- Osmium [NCIt concept]
- Oxygen [NCIt concept]
- Set of bone organs [FMA entity]
- Sp7 transcription factor [ORDO Gene]
- Upper case Roman letter O (qualifier value) [SNOMED CT concept]
- bone and bones [MeSH Descriptor]
- bones [ICF N3 Element]
- bones [MeSH concept]
- midline 1 [ORDO Gene]
- musculoskeletal [ICPC-2 Chapter]
- set of bone organs [Radlex concept]
Broader ORDO disease(s)
- Opitz GBBB syndrome [ORDO Disease]
Currated CISMeF NLP mapping
- Hypertelorism with esophageal abnormality and hypospadias [MeSH concept]
- Opitz G BBB syndrome [PASCAL descriptor]
- Opitz GBBB syndrome [ORDO Disease]
- Opitz-Frias syndrome (disorder) [SNOMED CT concept]
- X-linked Opitz G/BBB syndrome [ORDO Disease]
- hypertelorism with esophageal abnormality and hypospadias [MeSH Supplementary Concept]
- opitz GBBB syndrome, X-Linked [MeSH concept]
- opitz GBBB syndrome, X-Linked [MeSH Supplementary Concept]
DO Cross reference
- Opitz GBBB syndrome type I [DO Concept]
Genes related to phenotype
- Midline 1 [OMIM gene]
HPO term(s)
- Abnormal heart morphology [HPO term]
- Abnormal nasopharynx morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Anteverted nares [HPO term]
- Aspiration [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Cryptorchidism [HPO term]
- Dysphagia [HPO term]
- Frontal bossing [HPO term]
- Gastroesophageal reflux [HPO term]
- Global developmental delay [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypospadias [HPO term]
- Posterior pharyngeal cleft [HPO term]
- Prominent forehead [HPO term]
- Smooth philtrum [HPO term]
- Telecanthus [HPO term]
- Thin upper lip vermilion [HPO term]
- Wide nasal bridge [HPO term]
- Widow's peak [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- Opitz GBBB syndrome [ORDO Disease]
- X-linked Opitz G/BBB syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Opitz syndrome [Disease (Nov.)]
- Opitz-Frias syndrome (disorder) [SNOMED CT concept]
- X-linked Opitz G/BBB syndrome [ORDO Disease]
- opitz GBBB syndrome, X-Linked [MeSH Supplementary Concept]
- opitz GBBB syndrome, X-Linked [MeSH concept]
- opitz-frias syndrome [SNOMED Notion]
Validated automatic mappings to NTBT
- Opitz syndrome [Disease (Nov.)]

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