Coffin-siris syndrome 1

Preferred Label : Coffin-siris syndrome 1;

Symbol : CSS1;

CISMeF acronym : CSS1; MRD12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRD12; Coffin-siris syndrome; CSS; Fifth digit syndrome; Mental retardation, autosomal dominant 12; HHID; Hypertrichosis, hyperkeratosis, mental retardation, and distinctive facial features;

Description : Coffin-Siris syndrome has been described as mental retardation associated with coarse facial features, hypertrichosis, and hypoplastic or absent fifth fingernails or toenails (summary by Santen et al., 2012). Other features including ptosis, choanal atresia, cardiac defects, and genital anomalies have been reported (Jones, 2006). In patients with a diagnosis of Coffin-Siris syndrome, Tsurusaki et al. (2012) identified mutations in 6 of 15 genes encoding subunits of the SWI/SNF complex. The genes with mutations identified by Tsurusaki et al. (2012) included SMARCB1 (601607), SMARCA4 (603254), SMARCA2 (600014) (mutation in which resulted in a phenotype more aptly described as Nicolaides-Baraitser syndrome, 601358), ARID1A (603024), and ARID1B (614556). Santen et al. (2012) classified the phenotypes of the 6 patients they identified with mutations in ARID1B as Coffin-Siris syndrome; however, the facial gestalt of these patients was quite variable.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the AT-rich interaction domain-containing protein 1B gene (ARID1B, 614556.0001);

Prefixed ID : #135900;

Details

Origin ID

135900;

UMLS CUI

C3281201;

Currated CISMeF NLP mapping
- Coffin-Siris Syndrome [NCIt concept]
- Coffin-Siris syndrome [PASCAL descriptor]
- Coffin-Siris syndrome [DO Concept]
- Coffin-Siris syndrome [ICD-11 More detail]
- Coffin-Siris syndrome [MeSH concept]
- Coffin-Siris syndrome [MeSH Supplementary Concept]
- Coffin-Siris syndrome [ORDO Disease]
- Coffin-Siris syndrome (disorder) [SNOMED CT concept]
- Coffin-Siris syndrome 1 [DO Concept]
- coffin-siris syndrome [SNOMED Notion]
DO Cross reference
- Coffin-Siris syndrome 1 [DO Concept]
False automatic mappings
- CS Term Type [NCIt concept]
- Coded Simple Value Data Type [NCIt concept]
- Collaborative Staging [NCIt concept]
- churg-strauss syndrome [MeSH Descriptor]
Genes related to phenotype
- At-rich interaction domain-containing protein 1b [OMIM gene]
HPO term(s)
- Abnormality of the pinna [HPO term]
- Aggressive behavior [HPO term]
- Anonychia [HPO term]
- Aplasia of the uterus [HPO term]
- Aplasia/Hypoplasia of the distal phalanges of the toes [HPO term]
- Aplasia/Hypoplasia of the patella [HPO term]
- Astigmatism [HPO term]
- Atrial septal defect [HPO term]
- Autistic behavior [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Broad nasal tip [HPO term]
- Choanal atresia [HPO term]
- Cleft palate [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Clitoral hypertrophy [HPO term]
- Coarse facial features [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Conical tooth [HPO term]
- Coxa valga [HPO term]
- Cryptorchidism [HPO term]
- Cutis marmorata [HPO term]
- Dandy-Walker malformation [HPO term]
- Delayed CNS myelination [HPO term]
- Delayed ability to walk [HPO term]
- Delayed eruption of teeth [HPO term]
- Delayed skeletal maturation [HPO term]
- Delayed speech and language development [HPO term]
- Depressed nasal bridge [HPO term]
- Dislocated radial head [HPO term]
- Downslanted palpebral fissures [HPO term]
- Dry hair [HPO term]
- Duodenal ulcer [HPO term]
- Ectopic kidney [HPO term]
- Facial hypertrichosis [HPO term]
- Feeding difficulties [HPO term]
- Feeding difficulties in infancy [HPO term]
- Flattened nasal bridge [HPO term]
- Frontal bossing [HPO term]
- Full lips [HPO term]
- Gait ataxia [HPO term]
- Gastric ulcer [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- Hemangioma [HPO term]
- High palate [HPO term]
- High pitched voice [HPO term]
- High-arched palate [HPO term]
- Hoarse voice [HPO term]
- Hydronephrosis [HPO term]
- Hydroureter [HPO term]
- Hypertelorism [HPO term]
- Hypertrichosis [HPO term]
- Hypoplasia of the corpus callosum [HPO term]
- Hypoplastic fifth fingernail [HPO term]
- Hypospadias [HPO term]
- Hypotelorism [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intestinal malrotation [HPO term]
- Intrauterine growth retardation [HPO term]
- Intussusception [HPO term]
- Joint laxity [HPO term]
- Kyphosis [HPO term]
- Long eyelashes [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Lumbosacral hirsutism [HPO term]
- Microcephaly [HPO term]
- Microdontia [HPO term]
- Myopia [HPO term]
- Nystagmus [HPO term]
- Obsessive-compulsive behavior [HPO term]
- Partial agenesis of the corpus callosum [HPO term]
- Patent ductus arteriosus [HPO term]
- Plagiocephaly [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Preauricular skin tag [HPO term]
- Prominent fingertip pads [HPO term]
- Prominent interphalangeal joints [HPO term]
- Ptosis [HPO term]
- Recurrent respiratory infections [HPO term]
- Recurrent upper and lower respiratory tract infections [HPO term]
- Renal hypoplasia [HPO term]
- Retrognathia [HPO term]
- Sacral dimple [HPO term]
- Sandal gap [HPO term]
- Scoliosis [HPO term]
- Seizure [HPO term]
- Severe expressive language delay [HPO term]
- Short chin [HPO term]
- Short distal phalanx of the 5th finger [HPO term]
- Short distal phalanx of the 5th toe [HPO term]
- Short philtrum [HPO term]
- Short stature [HPO term]
- Short sternum [HPO term]
- Single transverse palmar crease [HPO term]
- Sparse scalp hair [HPO term]
- Spina bifida occulta [HPO term]
- Strabismus [HPO term]
- Tetralogy of Fallot [HPO term]
- Thick eyebrow [HPO term]
- Thick lower lip vermilion [HPO term]
- Thin upper lip vermilion [HPO term]
- Umbilical hernia [HPO term]
- Ventricular septal defect [HPO term]
- Visual impairment [HPO term]
- Wide mouth [HPO term]
ORDO concept(s)
- Coffin-Siris syndrome [ORDO Disease]
See also inter- (CISMeF)
- ARID1B wt Allele [NCIt concept]
- chondroitin sulfate synthase 1 [ORDO Gene]
- chondroitin sulfate synthase 1 [HGNC gene]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]

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