Glass syndrome

Preferred Label : Glass syndrome;

Symbol : GLASS;

CISMeF acronym : GLASS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Chromosome 2q32-q33 deletion syndrome;

Description : Glass syndrome is a mental retardation syndrome characterized by dysmorphic facial features, including microcephaly, micrognathia, downslanting palpebral fissures, crowded teeth, and cleft palate. Additional features may include seizures, joint laxity, and happy demeanor (summary by Glass et al., 1989 and Urquhart et al., 2009).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the special AT-rich sequence-binding protein 2 gene (SATB2, 608148.0001);

Laboratory abnormalities : Some patients carry a deletion of minimum of 8.1 Mb on 2q32-q33;

Prefixed ID : #612313;

Details

Origin ID

612313;

UMLS CUI

C2676739;

Automatic exact mappings (from CISMeF team)
- Eye glasses, device (physical object) [SNOMED CT concept]
- Glass [NCIt concept]
- Glass [NCIt concept]
- Glass (substance) [SNOMED CT concept]
- Glasses [NCIt concept]
- Glasses [ICNP mean]
- Glassful - unit of product usage (qualifier value) [SNOMED CT concept]
- Methamphetamine [LOINC component]
- eye wear [MedlinePlus Topic]
- eyeglasses [MeSH Descriptor]
- glass [SNOMED Notion]
- glass [MeSH concept]
- glass [MeSH Descriptor]
- methamphetamine [MedlinePlus Topic]
Currated CISMeF NLP mapping
- 2q32q33 deletion [ICD-11 More detail]
- 2q32q33 microdeletion syndrome [ORDO Disease]
- 2q32q33 microdeletion syndrome (disorder) [SNOMED CT concept]
- SATB2-associated syndrome [DO Concept]
- chromosome 2q32-Q33 deletion syndrome [MeSH concept]
- chromosome 2q32-Q33 deletion syndrome [MeSH Supplementary Concept]
DO Cross reference
- SATB2-associated syndrome [DO Concept]
Genes related to phenotype
- Special at-rich sequence-binding protein 2 [OMIM gene]
HPO term(s)
- Aggressive behavior [HPO term]
- Arachnodactyly [HPO term]
- Autosomal dominant inheritance [HPO term]
- Broad-based gait [HPO term]
- Bulbous nose [HPO term]
- Camptodactyly [HPO term]
- Cleft palate [HPO term]
- Conical tooth [HPO term]
- Delayed speech and language development [HPO term]
- Dental crowding [HPO term]
- Downslanted palpebral fissures [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Happy demeanor [HPO term]
- High forehead [HPO term]
- High palate [HPO term]
- Hyperactivity [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Long nose [HPO term]
- Low-set ears [HPO term]
- Malar flattening [HPO term]
- Microcephaly [HPO term]
- Micrognathia [HPO term]
- Midface retrusion [HPO term]
- Nail dysplasia [HPO term]
- Narrow mouth [HPO term]
- Narrow nose [HPO term]
- Oligodontia [HPO term]
- Prominent nasal bridge [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- Smooth philtrum [HPO term]
- Sparse hair [HPO term]
- Talipes equinovarus [HPO term]
- Thin skin [HPO term]
ORDO concept(s)
- 2q32q33 microdeletion syndrome [ORDO Disease]
- SATB2-associated syndrome due to a chromosomal rearrangement [ORDO Disease]
- SATB2-associated syndrome due to a pathogenic variant [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- 2q32q33 microdeletion syndrome [ORDO Disease]
- SATB2-associated syndrome [DO Concept]
- chromosome 2q32-Q33 deletion syndrome [MeSH Supplementary Concept]
- chromosome 2q32-Q33 deletion syndrome [MeSH concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients