ODCs

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Coffin-Siris syndrome

5 OMIM references -
5 associated genes
54 signs/symptoms

COMMON GENES: 2
PROTEIN INTERACTIONS: 7

Familial rhabdoid tumor

2 OMIM references -
2 associated genes
No signs/symptoms info

Coffin-Siris syndrome

Familial rhabdoid tumor

ARID1A	(UniProt - OMIM)	SMARCA4	(UniProt - OMIM)
ARID1B	(UniProt - OMIM)	SMARCB1	(UniProt - OMIM)
SMARCA4	(UniProt - OMIM)
SMARCB1	(UniProt - OMIM)
SMARCE1	(UniProt - OMIM)


COMMON GENES	SMARCA4 SMARCB1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMARCA4 ARID1A ARID1B SMARCE1 SMARCE1 ARID1A ARID1B	(1) (0.97) (0.97) (0.9) (0.87) (0.85) (0.82)	SMARCB1 SMARCA4 SMARCA4 SMARCA4 SMARCB1 SMARCB1 SMARCB1

Citations in the biomedical literature:

Coffin-Siris syndrome		Familial rhabdoid tumor
	Synonym(s): - CSS		Synonym(s): - RTPS - Rhabdoid tumor predisposition syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare genetic disease - Rare oncologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: child / adolescent Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 5 OMIM references - 1 MeSH reference: C536436		External references: 2 OMIM references - No MeSH references

Coffin-Siris syndrome
	Very frequent - Absent / small fingernails / anonychia of hands - Anomalies of teeth and dentition - Broad nose / nasal bridge - Coarse face - Feeding disorder / dysphagia / swallowing / sucking disorder / esophageal dyskinesia - Hirsutism / hypertrichosis / Increased body hair - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Long / thick / curved lashes / trichomegaly / polytrichia - Microcephaly - Short stature / dwarfism / nanism - slow growth of the hair - Terminal / third phalangeal bone of fingers hypoplasia - Thick lips - Thick / bushy eyebrows Frequent - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Congenital cardiac anomaly / malformation / cardiopathy - Dandy-Walker anomaly - Depressed nasal bridge - Elbow dislocation - Flattened nose - Hearing loss / hypoacusia / deafness - Hyperextensible joints / articular hyperlaxity - Intrauterine growth retardation - Macrostomia / big mouth - Nystagmus - Patella absent / abnormal (excluding luxation) - Repeat respiratory infections - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Strabismus / squint - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Absent / small toenails / anonychia of feet - Agenesis / hypoplasia / aplasia of kidneys - Anomalies of spine, vertebrae and pelvis - Cataract / lens opacification - Clavicle absent / abnormal - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Corpus callosum / septum pellucidum total / partial agenesis - Cutis marmorata / marbled skin / livedo - Defect / anomaly of lacrimal system - Diaphragmatic hernia / defect / agenesis - Dilated cerebral ventricles without hydrocephaly - Ectopic / horseshoe / fused kidneys - Epicanthic folds - Herniae - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Intervertebral disk anomaly - Kyphosis - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Ptosis - Short philtrum - Simian crease / transverse / unique palmar crease - Spina bifida occulta
Familial rhabdoid tumor
(no data available)