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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
28 signs/symptoms
Alternating hemiplegia of childhood
Achondrogenesis type 1A

ATP1A2 TRIP11
ATP1A3
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ATP1A2
(0.63)
TRIP11



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Achondrogenesis type 1A
TRIP11



Alternating hemiplegia of childhood
Achondrogenesis type 1A

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

Synonym(s):
- Achondrogenesis, Houston-Harris type

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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

External references:
2 OMIM references -
1 MeSH reference: C536589
External references:
1 OMIM reference -
1 MeSH reference: C536015

Achondrogenesis type 1A

Very frequent
- Abnormal / absent ossification
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Excess nuchal skin without pterygium colli
- Flat face
- Frontal bossing / prominent forehead
- Hydrops fetalis
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Long philtrum
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Micrognathia / retrognathia / micrognathism / retrognathism
- Narrow rib cage / thorax
- Short limbs / micromelia / brachymelia
- Short neck
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Short / small nose
- Stillbirth / neonatal death

Frequent
- Inguinal / inguinoscrotal / crural hernia
- Mutiple fractures / bone fragility
- Polyhydramnios
- Rib structure anomalies
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Umbilical hernia

Occasional
- Congenital cardiac anomaly / malformation / cardiopathy
- Cystic hygroma


Alternating hemiplegia of childhood

(no data available)