ODCs

Click node...

Frontometaphyseal dysplasia

1 OMIM reference -
1 associated gene
33 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Von Hippel-Lindau disease

1 OMIM reference -
1 associated gene
43 signs/symptoms

Frontometaphyseal dysplasia

Von Hippel-Lindau disease

FLNA

(UniProt - OMIM)

VHL

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.73)	VHL

Citations in the biomedical literature:

Frontometaphyseal dysplasia		Von Hippel-Lindau disease
	Synonym(s): (no synonyms)		Synonym(s): - Familial cerebelloretinal angiomatosis - Hippel-Lindau disease - Lindau disease - VHL - Von Hippel-Lindau syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare circulatory system disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: x-linked dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: adulthood Average age of death: elderly Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C538064		External references: 1 OMIM reference - 1 MeSH reference: D006623


COMMON SIGNS	- Autosomal dominant inheritance - Sensorineural deafness / hearing loss

Frontometaphyseal dysplasia		Von Hippel-Lindau disease
	Very frequent - Bowed diaphysis / diaphyses / long bones - Camptodactyly of fingers - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Diaphyseal anomaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Frontal sinus agenesis / anomaly - Hypertelorism - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Prominent supraorbital ridge - Restricted joint mobility / joint stiffness / ankylosis - Tooth shape anomaly - X-linked recessive inheritance Frequent - Abnormal vertebral size / shape - Advanced bone age - Carpal bones fusion / synostosis - Conductive deafness / hearing loss - Elbow dislocation - High vaulted / narrow palate - Long hand / arachnodactyly - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Scoliosis - Thumb hypoplasia / aplasia / absence - Ulnar deviation of fingers Occasional - Atrioventricular canal - Craniostenosis / craniosynostosis / sutural synostosis - Larynx / laryngeal stenosis / atresia - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Tracheal atresia / stenosis - Ureteral stenosis / narrowing - Urethral anomalies / stenosis / posterior urethral valves / megalocystis		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Cerebral vascular anomalies - Congenital pancreatic cyst - Kidney / renal neoplasm / tumor / carcinoma / cancer - Mild visual loss / impaired visual acuity - Nystagmus - Retinal vascular anomalies / retinal telangiectasia - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Vascular anomalies of skin / mucosae - Vascular malignancy / tumor - Visceral angiomatosis (excluding skin) Frequent - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Capillary hemangioma / nevus / naevus flammeus / port-wine stain - Facial pain / cephalalgia / migraine - Hemiplegia / diplegia / hemiparesia / limb palsy - Hydrocephaly - Motor deficit / trouble - Multicystic kidney / renal dysplasia - Nausea / vomiting / regurgitation / merycism / hyperemesis - Renal / kidney anomalies - Sensitive trouble / deficit - Telangiectasiae of the skin Occasional - Anomalies of the lymphatic system - Cardiac rhythm disorder / arrhythmia - Cataract / lens opacification - Chronic arterial hypertension - Cranial hypertension - Glaucoma - Hearing loss / hypoacusia / deafness - Hyperhidrosis / increased sweating - Middle ear neoplasm / tumor / carcinoma / cancer - Neoplasms / tumors - Neuroendocrine tumor / apudoma / carcinoid - Pheochromocytoma / paraganglioma - Polycystic kidneys - Retinal detachment - Spermatocele / epididymal / funicular / spermatic / vaginal / albugineal cyst - Structural anomalies of the pancreas - Visual loss / blindness / amblyopia