Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
41 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Zlotogora-Ogur syndrome
Gerstmann-Straussler-Scheinker syndrome

PVRL1 PRNP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PVRL1
(0.52)
PRNP



Citations in the biomedical literature:


Zlotogora-Ogur syndrome
PVRL1
Gerstmann-Straussler-Scheinker syndrome
PRNP



Zlotogora-Ogur syndrome
Gerstmann-Straussler-Scheinker syndrome

Synonym(s):
- CLPED1
- Cleft lip/palate-ectodermal dysplasia syndrome
- Cleft lip/palate-syndactyly-pili torti
- Syndactyly-ectodermal dysplasia-cleft/lip palate
- Zlotogora-Zilberman-Tenenbaum syndrome

Synonym(s):
- Subacute spongiform encephalopathy, Gerstmann-Straussler type

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
(no data available)
Classification (ICD10):
- Certain infectious and parasitic diseases -

Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal recessive
Epidemiological data:
Class of prevalence: unknown
Average age onset: adulthood
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C536726
External references:
1 OMIM reference -
1 MeSH reference: D016098

Zlotogora-Ogur syndrome

Very frequent
- Autosomal recessive inheritance
- Cleft lip
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Long / large ear
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormally placed nipples
- Absent / decreased / thin eyebrows
- Alopecia
- Broad nasal root
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Flat cheek bones / malar hypoplasia
- High arched eyebrows
- Hypoplastic scrotum / hemiscrotum / scrotal ridges
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Lateral thinning of eyebrows
- Micrognathia / retrognathia / micrognathism / retrognathism
- Mid-facial hypoplasia / short / small midface
- Multiple caries
- Pili torti
- Prominent / bat ears
- Repeat respiratory infections
- Simian crease / transverse / unique palmar crease
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Synophris / synophrys
- Tooth shape anomaly

Occasional
- Abnormal dermatoglyphics
- Anodontia / oligodontia / hypodontia
- Cryptophthalmia / ankyloblepharon / synblepharon
- EEG anomalies
- Enamel anomaly
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Lordosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Ureterocele / cystic dilation / dilatation of the ureter / ureterovasical stenosis


Gerstmann-Straussler-Scheinker syndrome

(no data available)