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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
1 associated gene
26 signs/symptoms
Semantic dementia
X-linked dominant chondrodysplasia, Chassaing-Lacombe type

C9ORF72 HDAC6
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
MAPT
VCP
(0.68)
(0.62)
HDAC6
HDAC6



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

X-linked dominant chondrodysplasia, Chassaing-Lacombe type
HDAC6



Semantic dementia
X-linked dominant chondrodysplasia, Chassaing-Lacombe type

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

Synonym(s):
- X-linked dominant chondrodysplasia - hydrocephaly - microphthalmia

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Diseases of the nervous system -
Classification (ICD10):
(no data available)

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: -
Type of inheritance: x-linked dominant

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

X-linked dominant chondrodysplasia, Chassaing-Lacombe type

Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Flattened nose
- Frontal bossing / prominent forehead
- Hydrocephaly
- Low set ears / posteriorly rotated ears
- Metacarpal anomalies / Archibald's sign
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Rhizomelic micromelia
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Short / small nose
- X-linked dominant inheritance

Frequent
- Ankle anomalies
- Asymmetry of the body / hemiatrophy / hemihyperthrophy
- Death in infancy
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Rib structure anomalies

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hyperkeratosis / ainhum / hyperkeratotic skin fissures
- Macrostomia / big mouth
- Micrognathia / retrognathia / micrognathism / retrognathism
- Short philtrum


Semantic dementia

(no data available)