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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
29 signs/symptoms
Semantic dementia
Ankyloblepharon - ectodermal defects - cleft lip/palate

C9ORF72 TP63
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.72)
TP63



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Ankyloblepharon - ectodermal defects - cleft lip/palate
TP63



Semantic dementia
Ankyloblepharon - ectodermal defects - cleft lip/palate

Synonym(s):
- Semantic primary progressive aphasia
- Semantic variant PPA

Synonym(s):
- AEC syndrome
- Hay-Wells syndrome

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 maxillo-facial surgical disease
- Rare otorhinolaryngologic disease
- Rare skin disease

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

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Ankyloblepharon - ectodermal defects - cleft lip/palate

Very frequent
- Autosomal dominant inheritance
- Broad nose / nasal bridge
- Coarse / thick hair
- Cryptophthalmia / ankyloblepharon / synblepharon
- Dysplastic / thick / grooved fingernails
- Dysplastic / thick / grooved toenails
- Hypohidrosis / decreased sweating / thermoregulation disorder / heat intolerance
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Lateral cleft lip / gingival cleft / paramedian nasal cleft

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / decreased lashes
- Absent / decreased / thin eyebrows
- Anodontia / oligodontia / hypodontia
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Diffuse / generalised skin hyperpigmentation / melanoderma
- Enamel anomaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Palmoplantar hyperkeratosis / keratoderma
- Tooth shape anomaly

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Autosomal recessive inheritance
- Clinodactyly of fifth finger
- Conductive deafness / hearing loss
- Defect / anomaly of lacrimal system
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Prominent / bat ears
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Ventricular septal defect / interventricular communication


Semantic dementia

(no data available)