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1 OMIM reference -
2 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Thrombocytopenia - absent radius

1 OMIM reference -
1 associated gene
34 signs/symptoms

Choroideremia

Thrombocytopenia - absent radius

CHM	(UniProt - OMIM)		RBM8A	(UniProt - OMIM)
RPE65	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CHM	(0.63)	RBM8A

Citations in the biomedical literature:

Choroideremia		Thrombocytopenia - absent radius
	Synonym(s): - CHM - Tapetochoroidal dystrophy		Synonym(s): - TAR syndrome

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adolescence / young Average age of death: normal Type of inheritance: x-linked recessive		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - 1 MeSH reference: D015794		External references: 1 OMIM reference - No MeSH references

Choroideremia		Thrombocytopenia - absent radius
	Very frequent - Abnormal ERG / electroretinogram / electroretinography - Anomalies of eyes and vision - Mild visual loss / impaired visual acuity - Myopia - Night blindness / hemeralopia - Retinitis pigmentosa / retinal pigmentary changes - X-linked recessive inheritance Frequent - Visual loss / blindness / amblyopia		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 - Scoliosis - 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