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Coffin-Siris syndrome

5 OMIM references -
5 associated genes
54 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Ataxia-telangiectasia

2 OMIM references -
1 associated gene
39 signs/symptoms

Coffin-Siris syndrome

Ataxia-telangiectasia

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


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMARCB1	(0.72)	ATM

Citations in the biomedical literature:

Coffin-Siris syndrome		Ataxia-telangiectasia
	Synonym(s): - CSS		Synonym(s): - Louis-Bar syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare gynecologic or obstetric disease - Rare immune disease - Rare neurologic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the nervous system -

	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: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: adult Type of inheritance: autosomal recessive

	External references: 5 OMIM references - 1 MeSH reference: C536436		External references: 2 OMIM references - 1 MeSH reference: D001260


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability - Nystagmus - Repeat respiratory infections - Seizures / epilepsy / absences / spasms / status epilepticus - Short stature / dwarfism / nanism - Strabismus / squint

Coffin-Siris syndrome		Ataxia-telangiectasia
	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 - Long / thick / curved lashes / trichomegaly / polytrichia - Microcephaly - 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 - Patella absent / abnormal (excluding luxation) - Scoliosis - 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		Very frequent - Abnormal eye movements / oculomotor disorder - Abnormal gait - Abnormal hepatic enzymes / transaminases - Abnormal / polycystic ovaries - Agammaglobulinemia / hypogammaglobulinemia / B-cell deficiency - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Chromosome breakage - Immunodeficiency / increased susceptibility to infections / recurrent infections - Late puberty / hypogonadism / hypogenitalism - Lymphopenia - Movement disorder - Premature ageing - Premature greying of hair - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - T-cell deficiency / cellular immunity deficiency - Telangiectasiae of mucosae - Telangiectasiae of the skin - Thymic aplasia / hypoplasia - Tremor Frequent - Albinism (hair) - Diabetes mellitus - Elocution disorders / dysarthria / dysphonia - Hypertonia / spasticity / rigidity / stiffness - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Neoplasms / tumors Occasional - Cafe-au-lait spot - Failure to thrive / difficulties for feeding in infancy / growth delay - Insulin-independent / type 2 diabetes - Skin hypoplasia / aplasia / atrophy - Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia