Cytoscape Web
Click node...

Oculodentodigital dysplasia
2 OMIM references -
1 associated gene
76 connected diseases
86 signs/symptoms
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Hypoplastic left heart syndrome
Syndactyly type 3
Amyotrophic lateral sclerosis
Pulverulent cataract
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Berardinelli-Seip congenital lipodystrophy
Diffuse cutaneous systemic sclerosis
Heritable pulmonary arterial hypertension
Limited cutaneous systemic sclerosis
Familial advanced sleep-phase syndrome
Coppock-like cataract
Nuclear cataract
Posterior polar cataract
Familial atrial fibrillation
Tetralogy of Fallot
Distal 22q11.2 microdeletion syndrome
Microcephaly-capillary malformation syndrome
Acute fatty liver of pregnancy
Adult-onset autosomal dominant leukodystrophy
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant progressive external ophthalmoplegia
Autosomal dominant spastic paraplegia type 13
Autosomal recessive cutis laxa type 2B
Blackfan-Diamond anemia
Catecholaminergic polymorphic ventricular tachycardia
Charcot-Marie-Tooth disease type 1F
Childhood-onset nemaline myopathy
Chronic intestinal pseudoobstruction
Congenital cataract - hypertrophic cardiomyopathy - mitochondrial myopathy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Congenital short bowel syndrome
Congenital stromal corneal dystrophy
Congenital valvular dysplasia
Distal myopathy with posterior leg and anterior hand involvement
Ehlers-Danlos syndrome with periventricular heterotopia
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial isolated congenital asplenia
Frontometaphyseal dysplasia
Geroderma osteodysplastica
Glycogen storage disease due to aldolase A deficiency
Gyrate atrophy of choroid and retina
Hereditary spherocytosis
Hypomyelination with atrophy of basal ganglia and cerebellum
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Isolated CoQ-cytochrome C reductase deficiency
Isolated NADH-CoQ reductase deficiency
Leigh syndrome with leukodystrophy
Lissencephaly due to TUBA1A mutation
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Long chain acyl-CoA dehydrogenase deficiency
Mitochondrial trifunctional protein deficiency
Muscle filaminopathy
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
PYCR1-related DeBarsy syndrome
Pelizaeus-Merzbacher-like due to HSPD1 mutation
Periventricular nodular heterotopia
Primary dystonia, DYT4 type
Severe congenital nemaline myopathy
Severe early-onset axonal neuropathy due to NEFL deficiency
Spinocerebellar ataxia type 26
Terminal osseous dysplasia - pigmentary defects
Translocation renal cell carcinoma
Typical nemaline myopathy
Young adult-onset Parkinsonism
Spinocerebellar ataxia type 14
X-linked non-syndromic intellectual deficit
Synonym(s):
- Meyer-Schwickerath syndrome
- ODDD syndrome
- Oculodentoosseous dysplasia
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
GJA1 P17302121014
Very frequent
- Anodontia / oligodontia / hypodontia
- Anomalies of nose and olfaction
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Camptodactyly of some fingers
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Clinodactyly of fifth finger
- Enamel anomaly
- Microcornea
- Multiple caries
- Narrow nasal bridge
- Premature lost of decidious teeth
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thick columella
- Thin / hypoplastic ala nasi

Frequent
- Abnormal fingernails
- Abnormal gait
- Abnormal hair texture / hair dysplasia
- Anomalies of eyes and vision
- Ataxia / incoordination / trouble of the equilibrium
- Bladder and ureter anomalies
- Broad alveolar ridge
- Camptodactyly of fingers
- Cataract / lens opacification
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clinodactyly of fingers 1,2,3,4 / overlapping fingers
- Conductive deafness / hearing loss
- Cortical anomaly / thick bone cortical layer
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Elocution disorders / dysarthria / dysphonia
- Enlargment of jaw / large jaw
- External ear anomalies
- Glaucoma
- Hemiplegia / diplegia / hemiparesia / limb palsy
- High forehead
- Hypereflexia
- Hypermetropia
- Hyperostosis
- Hypertelorism
- Hypertonia / spasticity / rigidity / stiffness
- Hypotelorism
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intracranial / cerebral calcifications
- Median cleft lip
- Metaphyseal anomaly
- Muscle weakness / flaccidity
- Myopia
- Nails anomalies
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Prognathism / prognathia
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short / small nose
- slow growth of the hair
- Small / triangular nares / nostrils
- Visual loss / blindness / amblyopia

Occasional
- Abnormal vertebral size / shape
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Blepharophimosis / short palpebral fissures
- Brittle hair / distrix / trichorrhexis
- Cardiac rhythm disorder / arrhythmia
- Clavicle absent / abnormal
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Diaphyseal anomaly
- Epicanthic folds
- Fine hair
- Hearing loss / hypoacusia / deafness
- Hypoglycemia
- Lateral cleft lip / gingival cleft / paramedian nasal cleft
- Madelung's deformity
- Micrognathia / retrognathia / micrognathism / retrognathism
- Nystagmus
- Palmoplantar hyperkeratosis / keratoderma
- Preaxial polydactyly (hand)
- Short big toe
- Short hand / brachydactyly
- Strabismus / squint
- Taurodontia
- Umbilical hernia
- Upper limb polydactyly / hexadactyly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures
- Ventricular septal defect / interventricular communication