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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
1 associated gene
84 signs/symptoms
Semantic dementia
Acroosteolysis dominant type

C9ORF72 NOTCH2
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
PSEN1
(0.52)
NOTCH2



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Acroosteolysis dominant type
NOTCH2



Semantic dementia
Acroosteolysis dominant type

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

Synonym(s):
- Acrodentoosteodysplasia
- Acroosteolysis with osteoporosis and changes in skull and mandible
- Arthro-dento-ostéodysplasie
- Arthrodentoosteodysplasia
- Cheney syndrome
- Hajdu-Cheney syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare renal disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
- Diseases of the musculoskeletal system and connective tissue -

Epidemiological data:
Class of prevalence: -
Average age onset: adulthood
Average age of death: -
Type of inheritance: multigenic/multifactorial
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: childhood
Average age of death: normal
Type of inheritance: autosomal dominant

External references:
No OMIM references
No MeSH references
External references:
2 OMIM references -
3 MeSH references: C531695 / C535663 / D031845

Acroosteolysis dominant type

Very frequent
- Alveolysis / paraodontitis
- Autosomal dominant inheritance
- Distal phalangeal bones of toes hypoplasia / absence
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Facial dysmorphism
- Hypertelorism
- Long philtrum
- Micrognathia / retrognathia / micrognathism / retrognathism
- Osteolysis / osteoclasia / bone destruction / erosions
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Poorly ossified skull / calvarium
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Skull / cranial anomalies
- Terminal / third phalangeal bone of fingers hypoplasia
- Thick / bushy eyebrows

Frequent
- Abnormal fingernails
- Abnormal vertebral size / shape
- Anomalies of teeth and dentition
- Anteverted nares / nostrils
- Arnold-Chiari anomaly
- Articular / joint pain / arthralgia
- Basilary impression / invagination / cranio-spinal malformation / platybasia
- Bone pain
- Broad cheeks / cherub-like / cherubin face
- Cleft lip and palate
- Coarse face
- Dental malocclusion
- Dolichocephaly / scaphocephaly
- Downturned mouth
- Frontal sinus agenesis / anomaly
- Hearing loss / hypoacusia / deafness
- Hirsutism / hypertrichosis / Increased body hair
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic mandibula / partial absence of the mandibula
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Microstomia / little mouth
- Mutiple fractures / bone fragility
- Prominent occiput / occipital bossing
- Scoliosis
- Short neck
- Telecanthus / canthal dystopy
- Thin / retracted lips
- Wormian bones

Occasional
- Abnormal cry / voice / phonation disorder / nasal speech
- Aortic valve atresia / stenosis / narrowing / supra-aortic / supra-valvular stenosis
- Bowed diaphysis / diaphyses / long bones
- Broad nasal root
- Cataract / lens opacification
- Chronic skin infection / ulcerations / ulcers / cancrum
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Coarse / thick hair
- Coloboma of iris
- Congenital cardiac anomaly / malformation / cardiopathy
- Dry / squaly skin / exfoliation
- Facial pain / cephalalgia / migraine
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Flat cheek bones / malar hypoplasia
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hydrocephaly
- Hypospadias / epispadias / bent penis
- Inguinal / inguinoscrotal / crural hernia
- Intestinal / gut / bowel malrotation
- Kyphosis
- Late puberty / hypogonadism / hypogenitalism
- Low hair line-front
- Low set ears / posteriorly rotated ears
- Mitral valve atresia / stenosis / narrowing
- Myopia
- Patella dislocation
- Patent ductus arteriosus
- Pectus carinatum
- Peripheral neuropathy
- Polycystic kidneys
- Repeat respiratory infections
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Splenomegaly
- Synophris / synophrys
- Syringomelia
- Terminal broadening / clubbing of toes
- Thick skin / pachydermia / orange skin
- Umbilical hernia
- Ventricular septal defect / interventricular communication


Semantic dementia

(no data available)