ODCs

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Thrombocytopenia - absent radius

1 OMIM reference -
1 associated gene
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Autosomal dominant hyper-IgE syndrome

1 OMIM reference -
1 associated gene
38 signs/symptoms

Thrombocytopenia - absent radius

Autosomal dominant hyper-IgE syndrome

RBM8A

(UniProt - OMIM)

STAT3

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RBM8A	(0.7)	STAT3

Citations in the biomedical literature:

Thrombocytopenia - absent radius		Autosomal dominant hyper-IgE syndrome
	Synonym(s): - TAR 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 bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare hematologic 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: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		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	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Scoliosis

Thrombocytopenia - absent radius		Autosomal dominant hyper-IgE syndrome
	Very frequent - Clotting / hemostasis disorders - Insterstitial / subtelomeric microdeletion / deletion - Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray - Thrombocytopenia / thrombopenia Frequent - Broad forehead - Clinodactyly of fifth finger - Genu varum - High forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Humerus anomaly / absence / agenesis / hypoplasia / congenital humerus varus - Intestinal transit disorder - Low set ears / posteriorly rotated ears - Patella absent / abnormal (excluding luxation) - Patella dislocation - Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly - Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray Occasional - Broad / bifid thumb - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Cardiac septal defect - Clasp thumb / thumb adduction / distal thumb phalangeal bone deviated / large - Ectopic / horseshoe / fused kidneys - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Phocomelia - Rib number anomalies - Sensorineural deafness / hearing loss - Structural anomalies of the kidney and the urinary tract - Syndactyly of fingers / interdigital palm - Tetralogy of Fallot / trilogy of Fallot - Uterine / uterus / Fallopian tubes anomalies - Vertebral segmentation anomaly / hemivertebrae		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 - Broad nose / nasal bridge - 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 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