Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
86 signs/symptoms
Autosomal dominant spastic paraplegia type 13
Oculodentodigital dysplasia

HSPD1 GJA1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
HSPD1
(0.63)
GJA1



Citations in the biomedical literature:


Autosomal dominant spastic paraplegia type 13
HSPD1
Oculodentodigital dysplasia
GJA1



Autosomal dominant spastic paraplegia type 13
Oculodentodigital dysplasia

Synonym(s):
- SPG13

Synonym(s):
- Meyer-Schwickerath syndrome
- ODDD syndrome
- Oculodentoosseous dysplasia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare odontologic disease
- Rare skin disease

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

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

External references:
1 OMIM reference -
1 MeSH reference: C537485
External references:
2 OMIM references -
No MeSH references

Oculodentodigital dysplasia

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


Autosomal dominant spastic paraplegia type 13

(no data available)