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Hereditary spherocytosis
4 OMIM references -
5 associated genes
91 connected diseases
No signs/symptoms info
Disease Type of connection
8p11.2 deletion syndrome
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Southeast Asian ovalocytosis
Juvenile myelomonocytic leukemia
Familial isolated dilated cardiomyopathy
Fanconi anemia
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Familial pancreatic carcinoma
Noonan syndrome
Overhydrated hereditary stomatocytosis
Rh deficiency syndrome
Osteopetrosis with renal tubular acidosis
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Chronic myeloid leukemia
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
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Retinitis pigmentosa
Cardiofaciocutaneous syndrome
Costello syndrome
Hereditary nonpolyposis colon cancer
Linear nevus sebaceus syndrome
Pilocytic astrocytoma
Romano-Ward syndrome
Familial melanoma
Melanoma and neural system tumor syndrome
Melanoma-pancreatic cancer syndrome
Cockayne syndrome type 1
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Xeroderma pigmentosum complementation group F
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
Atrial septal defect, ostium secundum type
Autoimmune lymphoproliferative syndrome
Left ventricular noncompaction
Alpha-thalassemia - intellectual deficit syndrome linked to chromosome 16
Autosomal dominant methemoglobinemia
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Craniometaphyseal dysplasia
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial proliferation
Familial idiopathic steroid-resistant nephrotic syndrome with diffuse mesangial sclerosis
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Familial idiopathic steroid-resistant nephrotic syndrome with minimal changes
Familial thoracic aortic aneurysm and aortic dissection
Giant cell arteritis
Glycogen storage disease due to muscle beta-enolase deficiency
Granulomatosis with polyangiitis
Hb Bart's hydrops fetalis
Hemoglobin H disease
Hypoplastic left heart syndrome
Juvenile rheumatoid factor-negative polyarthritis
LEOPARD syndrome
Loeys-Dietz syndrome type 1
Metachondromatosis
Multiple keratoacanthoma, Ferguson-Smith type
Oculodentodigital dysplasia
Oligoarticular juvenile arthritis
Pediatric systemic lupus erythematosus
Pseudohypoaldosteronism type 2E
Syndactyly type 3
Hirschsprung disease
Hydrocephalus with stenosis of aqueduct of Sylvius
MASA syndrome
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Epidermolysis bullosa simplex with muscular dystrophy
Epidermolysis bullosa simplex with pyloric atresia
Epidermolysis bullosa simplex, Ogna type
Behavioral variant of frontotemporal dementia
Childhood-onset nemaline myopathy
Classical progressive supranuclear palsy
Congenital fiber-type disproportion myopathy
Congenital myopathy with excess of thin filaments
Intermediate nemaline myopathy
Progressive non-fluent aphasia
Progressive supranuclear palsy - corticobasal syndrome
Progressive supranuclear palsy - parkinsonism
Progressive supranuclear palsy - progressive non fluent aphasia
Progressive supranuclear palsy - pure akinesia with gait freezing
Semantic dementia
Severe congenital nemaline myopathy
Spectrin-associated autosomal recessive cerebellar ataxia
Spinocerebellar ataxia type 5
Typical nemaline myopathy
Synonym(s):
- Minkowski-Chauffard disease
Classification (Orphanet):
- Rare genetic disease
- Rare hematologic disease
Classification (ICD10):
- Diseases of the blood and blood-forming organs and certain disorders involving the immune mechanism -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
4 OMIM references -
2 MeSH references: C536356 / D013103
No signs/symptoms info available.