ODCs

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Otopalatodigital syndrome type 2

1 OMIM reference -
1 associated gene
43 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Familial dysautonomia

1 OMIM reference -
1 associated gene
37 signs/symptoms

Otopalatodigital syndrome type 2

Familial dysautonomia

FLNA

(UniProt - OMIM)

IKBKAP

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.63)	IKBKAP

Citations in the biomedical literature:

Otopalatodigital syndrome type 2		Familial dysautonomia
	Synonym(s): (no synonyms)		Synonym(s): - HSAN3 - Hereditary sensory and autonomic neuropathy type 3 - Riley-Day 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 eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease

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

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

	External references: 1 OMIM reference - 1 MeSH reference: C538089		External references: 1 OMIM reference - 1 MeSH reference: D004402


COMMON SIGNS	- Failure to thrive / difficulties for feeding in infancy / growth delay - Scoliosis

Otopalatodigital syndrome type 2		Familial dysautonomia
	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 - Hearing loss / hypoacusia / deafness - 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 - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Frontal sinus agenesis / anomaly - Glossoptosis - Hydrocephaly - 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 - Tarsal anomaly / fusion / synostosis		Very frequent - Abnormal EMG / electromyogram / electropmyography - Anomalies of eyelids, eyelashes and lacrimal system - Areflexia / hyporeflexia - Autosomal recessive inheritance - Hyperhidrosis / increased sweating - Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance - Hypotension - Insensitivity to pain - Malignant hyperthermia - Peripheral neuropathy - Pupillary anomalies / mydriasis / myosis / tonic pupil Frequent - Abnormal gait - Ataxia / incoordination / trouble of the equilibrium - Chronic arterial hypertension - Corneal ulceration / perforation - Hypotonia - Psychic / behavioural troubles - Repeat respiratory infections Occasional - Abnormal pleura / hydrothorax / pleuresia / pleural effusion / chylothorax - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Cardiac rhythm disorder / arrhythmia - Corneal clouding / opacity / vascularisation - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Heterochromia / mixed colouring of iris - Hyponatremia - Mutiple fractures / bone fragility - Myopia - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Osteolysis / osteoclasia / bone destruction / erosions - Osteonecrosis / bone infarction - Renal failure - Renal glomerular defect / glomerulopathy - Renal / kidney anomalies - Seizures / epilepsy / absences / spasms / status epilepticus - Structural anomaly of the peritoneum