ODCs

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1 OMIM reference -
1 associated gene
23 signs/symptoms

PROTEIN INTERACTIONS: 1

3 OMIM references -
3 associated genes
No signs/symptoms info

Goldberg-Shprintzen megacolon syndrome

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia


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

Citations in the biomedical literature:

Goldberg-Shprintzen megacolon syndrome		Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
	Synonym(s): - GOSHS - Megacolon - microcephaly		Synonym(s): - IBMPFD - Limb-girdle muscular dystrophy with Paget disease of bone - Pagetoid amyotrophic lateral sclerosis - Pagetoid neuroskeletal syndrome

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

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

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C537279		External references: 3 OMIM references - No MeSH references

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
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
(no data available)