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8p11.2 deletion syndrome
1 associated gene
24 connected diseases
34 signs/symptoms
Disease Type of connection
Hereditary spherocytosis
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Southeast Asian ovalocytosis
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Overhydrated hereditary stomatocytosis
Rh deficiency syndrome
Tibial muscular dystrophy
Familial thoracic aortic aneurysm and aortic dissection
Loeys-Dietz syndrome type 1
Multiple keratoacanthoma, Ferguson-Smith type
Pseudohypoaldosteronism type 2E
Hirschsprung disease
Hydrocephalus with stenosis of aqueduct of Sylvius
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
Synonym(s):
- Del(8)(p11.2)
- Monosomy 8p11.2
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic
External references:
No OMIM references
No MeSH references
Gene symbol UniProt reference OMIM reference
ANK1 P16157612641
Very frequent
- Hemolytic anemia
- Hypothalamic-hypophyseal axis functional anomalies / hypopituitarism
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Late puberty / hypogonadism / hypogenitalism
- Micrognathia / retrognathia / micrognathism / retrognathism
- Micropenis / small penis / agenesis
- Red cell structure / shape anomalies
- Short stature / dwarfism / nanism
- Undescended / ectopic testes / cryptorchidia / unfixed testes

Frequent
- Azoospermia / oligospermia / asthenospermia
- Branchial / posterior auricular / preauricular / cheek cysts / fistulae
- External ear anomalies
- High vaulted / narrow palate
- Microcephaly
- Nystagmus

Occasional
- Anosmia / cacosmia / hypogeusia / hyposmia / olfactory bulb hypoplasia
- Atrial septal defect / interauricular communication
- Blepharophimosis / short palpebral fissures
- Coloboma of iris
- Depressed nasal bridge
- Epicanthic folds
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Hypertelorism
- Microcornea
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Patent ductus arteriosus
- Retinal / chorioretinal dysplasia / dystrophy
- Rib number anomalies
- Sacral sinus / dimple
- Seizures / epilepsy / absences / spasms / status epilepticus
- Splenomegaly
- Talipes-varus / metatarsal varus
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures