ODCs

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Bohring-Opitz syndrome

1 OMIM reference -
1 associated gene
52 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Autosomal dominant hyper-IgE syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

Bohring-Opitz syndrome

Autosomal dominant hyper-IgE syndrome

ASXL1

(UniProt - OMIM)

STAT3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	ASXL1	(0.63)	STAT3

Citations in the biomedical literature:

Bohring-Opitz syndrome		Autosomal dominant hyper-IgE syndrome
	Synonym(s): - BOS syndrome - Bohring syndrome - C-like syndrome - Oberklaid-Danks syndrome - Opitz trigonocephaly-like syndrome		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 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: (no data available)		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: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula

Bohring-Opitz syndrome		Autosomal dominant hyper-IgE syndrome
	Very frequent - Beaked nose - Broad cheeks / cherub-like / cherubin face - Camptodactyly of fingers - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Coarse / thick hair - Failure to thrive / difficulties for feeding in infancy / growth delay - Flat supraorbital ridge - Hirsutism / hypertrichosis / Increased body hair - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Low hair line-front - Low set ears / posteriorly rotated ears - Microcephaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow forehead - Proptosis / exophthalmos - Restricted joint mobility / joint stiffness / ankylosis - Trigonocephaly - Ulnar deviation of fingers - Upslanted palpebral fissures / mongoloid slanting palpebral fissures Frequent - Abnormally placed nipples - Anomalies of spine, vertebrae and pelvis - Anterior chamber anomaly - Cleft lip - Congenital cardiac anomaly / malformation / cardiopathy - Corpus callosum / septum pellucidum total / partial agenesis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Death in infancy - Dilated cerebral ventricles without hydrocephaly - Elbow dislocation - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Hypertelorism - Intestinal / gut / bowel malrotation - Narrow rib cage / thorax - Oral synechiae / abnormal frenulae - Retinopathy - Seizures / epilepsy / absences / spasms / status epilepticus - Short rib cage / thorax - Strabismus / squint - Structural anomalies of the pancreas - Supernumerary nipples / polythelia - Synophris / synophrys Occasional - Dandy-Walker anomaly - Hearing loss / hypoacusia / deafness - Inguinal / inguinoscrotal / crural hernia - Myopia - Polyhydramnios - Renal / kidney anomalies - Small foot - Talipes-varus / metatarsal varus		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 - Repeat respiratory infections Frequent - Anomalies of teeth and dentition - 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 - Hyperextensible joints / articular hyperlaxity - Mutiple fractures / bone fragility - Onyxis / paronyxis / ungual inflammation - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Scoliosis 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