ODCs

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Thrombocytopenia - absent radius

1 OMIM reference -
1 associated gene
34 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Incontinentia pigmenti

1 OMIM reference -
1 associated gene
64 signs/symptoms

Thrombocytopenia - absent radius

Incontinentia pigmenti

RBM8A

(UniProt - OMIM)

IKBKG

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	RBM8A	(0.68)	IKBKG

Citations in the biomedical literature:

Thrombocytopenia - absent radius		Incontinentia pigmenti
	Synonym(s): - TAR syndrome		Synonym(s): - Bloch-Siemens syndrome - Bloch-Sulzberger syndrome

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: x-linked dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D007184


COMMON SIGNS	- Scoliosis - Syndactyly of fingers / interdigital palm

Thrombocytopenia - absent radius		Incontinentia pigmenti
	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 - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - 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 - Tetralogy of Fallot / trilogy of Fallot - Uterine / uterus / Fallopian tubes anomalies - Vertebral segmentation anomaly / hemivertebrae		Very frequent - Abnormal fingernails - Abnormal pigmentary skin changes / skin pigmentation anomalies - Absent / small fingernails / anonychia of hands - Anodontia / oligodontia / hypodontia - Cutaneous rash - Erythema / erythematous lesions / erythroderma / polymorphous erythema - Hair and scalp anomalies - Irregular / in bands / reticular skin hyperpigmentation - Irregular / patchy skin hypopigmentation - Nails anomalies - Telangiectasiae of the skin - Vesicles / bullous / exsudative lesions / bullous / cutaneous / mucosal detachment - Warts / papillomas - X-linked dominant inheritance Frequent - Abnormal gait - Alopecia - Anomalies of ear and hearing - Anomalies of hands - Anomalies of the ribs - Asymmetry of the body / hemiatrophy / hemihyperthrophy - Chronic skin infection / ulcerations / ulcers / cancrum - Cleft lip and palate - Clinodactyly of fingers 1,2,3,4 / overlapping fingers - Complete claw hand / camptodactyly of all fingers - Corneal clouding / opacity / vascularisation - Delayed dentition / eruption of teeth / lack of eruption of teeth - Eosinophils anomalies / hypereosinophilia - Hyperactivity / attention deficit - Hyperhidrosis / increased sweating - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Immunodeficiency / increased susceptibility to infections / recurrent infections - Osteolysis / osteoclasia / bone destruction / erosions - Short stature / dwarfism / nanism - Strabismus / squint - Supernumerary nipples / polythelia - Tooth shape anomaly - Visual loss / blindness / amblyopia Occasional - Abnormal toenails - Anophthalmos / anophthalmia / microphthalmos / microphthalmia - Blue sclerae - Cataract / lens opacification - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy - Dysplastic / thick / grooved fingernails - Dysplastic / thick / grooved toenails - Enamel anomaly - Encephalitis - Hand agenesis / absence - Heart / cardiac failure - Hemiplegia / diplegia / hemiparesia / limb palsy - Hypertonia / spasticity / rigidity / stiffness - Hypotonia - Intellectual deficit / mental / psychomotor retardation / learning disability - Motor deficit / trouble - Pulmonary hypertension - Retinal detachment - Retinal vascular anomalies / retinal telangiectasia - Retinal / chorioretinal dysplasia / dystrophy - Seizures / epilepsy / absences / spasms / status epilepticus - Spina bifida occulta - Transient cerebral ischemia / stroke - Umbilical hernia