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4 OMIM references -
5 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
8 signs/symptoms
Hereditary spherocytosis
X-linked complicated corpus callosum dysgenesis

ANK1 L1CAM
EPB42
SLC4A1
SPTA1
SPTB


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
ANK1
(0.58)
L1CAM



Citations in the biomedical literature:


Hereditary spherocytosis
ANK1 EPB42 SLC4A1 SPTA1 SPTB
X-linked complicated corpus callosum dysgenesis
L1CAM



Hereditary spherocytosis
X-linked complicated corpus callosum dysgenesis

Synonym(s):
- Minkowski-Chauffard disease

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

External references:
4 OMIM references -
2 MeSH references: C536356 / D013103
External references:
1 OMIM reference -
No MeSH references

X-linked complicated corpus callosum dysgenesis

Very frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Seizures / epilepsy / absences / spasms / status epilepticus
- X-linked recessive inheritance

Frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Hypertonia / spasticity / rigidity / stiffness
- Microcephaly
- Muscle weakness / flaccidity

Occasional
- Dolichocolon / megacolon / megadolichocolon / Hirschsprung's disease


Hereditary spherocytosis

(no data available)