ODCs

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Otopalatodigital syndrome type 2

1 OMIM reference -
1 associated gene
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Von Hippel-Lindau disease

1 OMIM reference -
1 associated gene
43 signs/symptoms

Otopalatodigital syndrome type 2

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:

Otopalatodigital syndrome type 2		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 maxillo-facial surgical disease - Rare neurologic disease - Rare otorhinolaryngologic 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: - Average age onset: - 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: C538089		External references: 1 OMIM reference - 1 MeSH reference: D006623


COMMON SIGNS	- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Hearing loss / hypoacusia / deafness - Hydrocephaly

Otopalatodigital syndrome type 2		Von Hippel-Lindau disease
	Very frequent - Anodontia / oligodontia / hypodontia - Bowed diaphysis / diaphyses / long bones - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Death in infancy - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hypertelorism - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Large fontanelle / delayed fontanelle closure - Narrow rib cage / thorax - Prominent supraorbital ridge - Short big toe - Thumb hypoplasia / aplasia / absence - X-linked recessive inheritance Frequent - Anomalies of spine, vertebrae and pelvis - Camptodactyly of fingers - Cardiac septal defect - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Failure to thrive / difficulties for feeding in infancy / growth delay - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Frontal sinus agenesis / anomaly - Glossoptosis - Hypospadias / epispadias / bent penis - Intellectual deficit / mental / psychomotor retardation / learning disability - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Metacarpal anomalies / Archibald's sign - Micrognathia / retrognathia / micrognathism / retrognathism - Omphalocele / exomphalos - Osteosclerosis / osteopetrosis / bone condensation - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Rib structure anomalies - Short hand / brachydactyly - Vertebral segmentation anomaly / hemivertebrae Occasional - Carpal bones fusion / synostosis - Encephalocele / exencephaly - Myelomeningocele - Preaxial polydactyly of toes / big toe duplication - Scoliosis - Tarsal anomaly / fusion / synostosis		Very frequent - Arteriovenous malformations / vascular malformations (excluding port-wine stains) - Autosomal dominant inheritance - Cerebral vascular anomalies - Congenital pancreatic cyst - Kidney / renal neoplasm / tumor / carcinoma / cancer - Mild visual loss / impaired visual acuity - Nystagmus - Retinal vascular anomalies / retinal telangiectasia - Sensorineural deafness / hearing loss - 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 - 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 - 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