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2 OMIM references -
4 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
32 signs/symptoms
Alternating hemiplegia of childhood
Autosomal recessive cutis laxa type 1

ATP1A2 EFEMP2
ATP1A3 FBLN5
CACNA1A
SLC1A3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
CACNA1A
(0.63)
EFEMP2



Citations in the biomedical literature:


Alternating hemiplegia of childhood
ATP1A2 ATP1A3 CACNA1A SLC1A3
Autosomal recessive cutis laxa type 1
EFEMP2 FBLN5



Alternating hemiplegia of childhood
Autosomal recessive cutis laxa type 1

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

Synonym(s):
- ARCL1
- Autosomal recessive cutis laxa with severe systemic involvement
- Autosomal recessive cutis laxa, pulmonary emphysema type

Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare circulatory system disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
- Rare surgical thoracic 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: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: child / adolescent
Type of inheritance: autosomal recessive

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

Autosomal recessive cutis laxa type 1

Very frequent
- Atelectasia / pulmonary collapse
- Autosomal recessive inheritance
- Bladder / vesical diverticulum
- Diaphragmatic hernia / defect / agenesis
- Emphysema
- Loose skin / skin relaxation / excess skin / creases
- Premature ageing
- Recurrent urinary infections
- Structural anomalies of the cardio-circulatory system

Frequent
- Aortic root dilatation / dilation / aneurysm
- Arterial aneurism (excluding aorta)
- Arterial stenosis / occlusion
- Broad cheeks / cherub-like / cherubin face
- Herniae
- Hyperextensible joints / articular hyperlaxity
- Inguinal / inguinoscrotal / crural hernia
- Intestinal obstruction / ileus
- Large fontanelle / delayed fontanelle closure
- Ptosis

Occasional
- Cardiac rhythm disorder / arrhythmia
- Colonic / intestinal / bowel diverticulosis / diverticulitis
- Early death / lethality
- Heart / cardiac failure
- Hypothyroidy
- Long hand / arachnodactyly
- Motor deficit / trouble
- Mutiple fractures / bone fragility
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Vesicorenal / vesicoureteral reflux
- Wormian bones


Alternating hemiplegia of childhood

(no data available)