ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

4 OMIM references -
4 associated genes
9 signs/symptoms

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies

Familial or sporadic hemiplegic migraine


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LTBP4	(0.68)	CACNA1A

Citations in the biomedical literature:

Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies		Familial or sporadic hemiplegic migraine
	Synonym(s): - Urban-Rifkin-Davis syndrome		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease		Classification (Orphanet): - 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: 1-5 / 10 000 Average age onset: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 4 OMIM references - No MeSH references

Familial or sporadic hemiplegic migraine
	Very frequent - Autosomal dominant inheritance - Hemiplegia / diplegia / hemiparesia / limb palsy - Movement disorder Frequent - Ataxia / incoordination / trouble of the equilibrium - Nystagmus Occasional - EEG anomalies - Retinitis pigmentosa / retinal pigmentary changes - Sensorineural deafness / hearing loss - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
(no data available)