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Hereditary spherocytosis

4 OMIM references -
5 associated genes
No signs/symptoms info

COMMON GENES: 1
PROTEIN INTERACTIONS: 4

8p11.2 deletion syndrome

1 associated gene
34 signs/symptoms

Hereditary spherocytosis

8p11.2 deletion syndrome

ANK1	(UniProt - OMIM)		ANK1	(UniProt - OMIM)
EPB42	(UniProt - OMIM)
SLC4A1	(UniProt - OMIM)
SPTA1	(UniProt - OMIM)
SPTB	(UniProt - OMIM)


COMMON GENES	ANK1


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SPTB SLC4A1 SPTA1 EPB42	(0.85) (0.83) (0.75) (0.52)	ANK1 ANK1 ANK1 ANK1

Citations in the biomedical literature:

Hereditary spherocytosis		8p11.2 deletion syndrome
	Synonym(s): - Minkowski-Chauffard disease		Synonym(s): - Del(8)(p11.2) - Monosomy 8p11.2

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

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

8p11.2 deletion syndrome
	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
Hereditary spherocytosis
(no data available)