ODCs

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1 OMIM reference -
1 associated gene
18 signs/symptoms

PROTEIN INTERACTIONS: 1

4 OMIM references -
4 associated genes
9 signs/symptoms

Dyssegmental dysplasia, Silverman-Handmaker type

Familial or sporadic hemiplegic migraine


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	HSPG2	(0.63)	CACNA1A

Citations in the biomedical literature:

Dyssegmental dysplasia, Silverman-Handmaker type		Familial or sporadic hemiplegic migraine

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: - Average age onset: - 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

Dyssegmental dysplasia, Silverman-Handmaker type		Familial or sporadic hemiplegic migraine
	Very frequent - Abnormal vertebral size / shape - Autosomal recessive inheritance - Blue sclerae - Bowed diaphysis / diaphyses / long bones - Metaphyseal anomaly - Micrognathia / retrognathia / micrognathism / retrognathism - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Short limbs / micromelia / brachymelia - Short stature / dwarfism / nanism Frequent - Atrial septal defect / interauricular communication - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Flattened nose - Inguinal / inguinoscrotal / crural hernia - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Stillbirth / neonatal death - Umbilical hernia		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