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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Alternating hemiplegia of childhood
Dyssegmental dysplasia, Silverman-Handmaker type

ATP1A2 HSPG2
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Dyssegmental dysplasia, Silverman-Handmaker type
HSPG2



Alternating hemiplegia of childhood
Dyssegmental dysplasia, Silverman-Handmaker type

Synonym(s):
- AHC
- Alternating hemiplegia in childhood

Synonym(s):
(no synonyms)

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

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

Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: any age
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
1 OMIM reference -
No MeSH references

Dyssegmental dysplasia, Silverman-Handmaker type

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



Alternating hemiplegia of childhood

(no data available)