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6 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
23 signs/symptoms
Semantic dementia
Goldberg-Shprintzen megacolon syndrome

C9ORF72 KIAA1279
CHMP2B
GRN
MAPT
PSEN1
VCP


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
VCP
(0.63)
KIAA1279



Citations in the biomedical literature:


Semantic dementia
C9ORF72 CHMP2B GRN MAPT PSEN1 VCP

Goldberg-Shprintzen megacolon syndrome
KIAA1279



Semantic dementia
Goldberg-Shprintzen megacolon syndrome

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

Synonym(s):
- GOSHS
- Megacolon - microcephaly

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare maxillo-facial surgical disease
- Rare neurologic disease
- Rare otorhinolaryngologic 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: -
Type of inheritance: autosomal recessive

External references:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537279

Goldberg-Shprintzen megacolon syndrome

Very frequent
- Autosomal dominant inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Microcephaly
- Short stature / dwarfism / nanism

Frequent
- Coloboma of iris
- Hypotonia
- Ptosis

Occasional
- Absent / decreased / thin eyebrows
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Broad nasal root
- Corpus callosum / septum pellucidum total / partial agenesis
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Hypertelorism
- Hypospadias / epispadias / bent penis
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Long / large ear
- Pointed chin
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sloping forehead
- Syndactyly of fingers / interdigital palm


Semantic dementia

(no data available)