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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
40 signs/symptoms
Semantic dementia
3M syndrome

C9ORF72 CCDC8
CHMP2B CUL7
GRN OBSL1
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
CUL7



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

3M syndrome
CCDC8 CUL7 OBSL1



Semantic dementia
3M syndrome

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

Synonym(s):
- 3-M syndrome
- Dolichospondylic dysplasia
- Gloomy face syndrome
- Le Merrer syndrome
- Yakut short stature syndrome

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
3 OMIM references -
No MeSH references

3M syndrome

Very frequent
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad forehead
- Delayed bone age
- Frontal bossing / prominent forehead
- Intrauterine growth retardation
- Long / large / bulbous nose
- Metaphyseal anomaly
- Mid-facial hypoplasia / short / small midface
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Pes talus
- Protruding lips
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Short neck
- Short stature / dwarfism / nanism
- Thick / bushy eyebrows
- Triangular face

Frequent
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dolichocephaly / scaphocephaly
- Elbow anomalies(excluding luxation)
- Enamel anomaly
- Hyperextensible joints / articular hyperlaxity
- Long philtrum
- Lordosis
- Pointed chin
- Prominent / bat ears
- Rib structure anomalies
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Wide rib cage / thorax

Occasional
- Cerebral vascular anomalies
- Clinodactyly of fifth finger
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypospadias / epispadias / bent penis
- Kyphosis
- Scoliosis
- Sterility / hypofertility


Semantic dementia

(no data available)