ODCs

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Coffin-Siris syndrome

5 OMIM references -
5 associated genes
54 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 6

Autosomal dominant hyper-IgE syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

Coffin-Siris syndrome

Autosomal dominant hyper-IgE syndrome

ARID1A	(UniProt - OMIM)	STAT3	(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)	SMARCA4	(0.68)	STAT3

Citations in the biomedical literature:

Coffin-Siris syndrome		Autosomal dominant hyper-IgE syndrome
	Synonym(s): - CSS		Synonym(s): - AD-HIES - Autosomal dominant HIES - Autosomal dominant hyperimmunoglobulin E syndrome - Buckley syndrome - Hyperimmunoglobulin E syndrome type 1 - Hyperimmunoglobulin E-recurrent infection syndrome - Job syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -

	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 / 100 000 Average age onset: neonatal/infancy Average age of death: any age Type of inheritance: autosomal dominant

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


COMMON SIGNS	- Anomalies of teeth and dentition - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Hyperextensible joints / articular hyperlaxity - Repeat respiratory infections - Scoliosis

Coffin-Siris syndrome		Autosomal dominant hyper-IgE syndrome
	Very frequent - Absent / small fingernails / anonychia of hands - 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 - Intrauterine growth retardation - Macrostomia / big mouth - Nystagmus - Patella absent / abnormal (excluding luxation) - 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 - 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 - Anomalies of skin, subcutaneous tissue and mucosae - Anomalies of the immunitary system - Atelectasia / pulmonary collapse - Autosomal dominant inheritance - Chronic skin infection / ulcerations / ulcers / cancrum - Cutaneous rash - Eczema - Ground-glass / reticular / alveolar / interstitial lung / pulmonary opacity - Immunodeficiency / increased susceptibility to infections / recurrent infections - Pruritus / itching Frequent - Chronic / relapsing otitis - Cough - Deepset eyes / enophthalmos - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dysplastic / thick / grooved fingernails - Eosinophils anomalies / hypereosinophilia - Face / facial anomalies - Follicular / erythematous / edematous papules / milium - Frontal bossing / prominent forehead - Gingivitis - Hair and scalp anomalies - Mutiple fractures / bone fragility - Onyxis / paronyxis / ungual inflammation - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets Occasional - Arterial aneurism (excluding aorta) - Autosomal recessive inheritance - Cellulitis / panniculitis / pseudocellulitis / inflammation of subcutaneous tissue - Craniostenosis / craniosynostosis / sutural synostosis - Fever / chilling - Lymphoma - Osteomyelitis / osteitis / periostitis / spondylodisciitis - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment