ODCs

Cytoscape Web

Click node...

Otopalatodigital syndrome type 1

1 OMIM reference -
1 associated gene
24 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

1 OMIM reference -
1 associated gene
40 signs/symptoms

Otopalatodigital syndrome type 1

SHORT syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FLNA	(0.63)	PIK3R1

Citations in the biomedical literature:

Otopalatodigital syndrome type 1		SHORT syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Aarskog-Ose-Pande syndrome - Lipodystrophy - Rieger anomaly - diabetes - Rieger anomaly - partial lipodystrophy

	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 developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537327


COMMON SIGNS	- Hypertelorism - Prominent supraorbital ridge - Short hand / brachydactyly

Otopalatodigital syndrome type 1		SHORT syndrome
	Very frequent - Anodontia / oligodontia / hypodontia - Broad nose / nasal bridge - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Hearing loss / hypoacusia / deafness - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Wide space between 1st-2nd toes - X-linked recessive inheritance Frequent - Bowed diaphysis / diaphyses / long bones - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Elbow dislocation - Frontal sinus agenesis / anomaly - Metacarpal anomalies / Archibald's sign - Osteosclerosis / osteopetrosis / bone condensation - Proximally set thumb - Terminal / third phalangeal bone of fingers hypoplasia - Thumb hypoplasia / aplasia / absence Occasional - Anomalies of spine, vertebrae and pelvis - Carpal bones fusion / synostosis - Tarsal anomaly / fusion / synostosis		Very frequent - Aniridia / iris hypoplasia - Anterior chamber anomaly - Autosomal dominant inheritance - Deepset eyes / enophthalmos - Hyperextensible joints / articular hyperlaxity - Inguinal / inguinoscrotal / crural hernia - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism Frequent - Abnormal fat distribution / lipodystrophy - Anomalies of teeth and dentition - Complete / partial microdontia - Diabetes mellitus - Enamel anomaly - Face / facial anomalies - Glaucoma - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness - Insulin resistance - Megalocornea - Mid-facial hypoplasia / short / small midface - Pupillary anomalies / mydriasis / myosis / tonic pupil - Rippled skin - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia - Weight loss / loss of appetite / break in weight curve / general health alteration Occasional - Broad nasal root - Clinodactyly of fifth finger - Corneal clouding / opacity / vascularisation - Embryotoxon - Flat cheek bones / malar hypoplasia - Frontal bossing / prominent forehead - Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana - Iridocorneal dysgenesis / iridogoniodysgenesis - Micrognathia / retrognathia / micrognathism / retrognathism - Myotonia - Telecanthus / canthal dystopy - Triangular face - Upper limb polydactyly / hexadactyly - Urinary / renal lithiasis / kidney stones / nephritic colic