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Autosomal thrombocytopenia with normal platelets
3 OMIM references -
3 associated genes
52 connected diseases
No signs/symptoms info
Disease Type of connection
46,XY disorder of sex development due to isolated 17, 20 lyase deficiency
Pancreatic insufficiency - anemia - hyperostosis
Isolated CoQ-cytochrome C reductase deficiency
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Distal hereditary motor neuropathy type 2
46,XY complete gonadal dysgenesis
Parkinsonian-pyramidal syndrome
Young adult-onset Parkinsonism
Autosomal dominant hypohidrotic ectodermal dysplasia
Chuvash erythrocytosis
Erythrocyte galactose epimerase deficiency
Familial pancreatic carcinoma
Familial prostate cancer
Generalized galactose epimerase deficiency
Hereditary breast and ovarian cancer syndrome
Hereditary breast cancer
Hereditary site-specific ovarian cancer syndrome
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Primary peritoneal carcinoma
Short stature due to growth hormone qualitative anomaly
Spondylometaphyseal dysplasia - cone-rod dystrophy
Von Hippel-Lindau disease
Follicular lymphoma
Intravascular large B-cell lymphoma
Recessive hereditary methemoglobinemia type 1
Recessive hereditary methemoglobinemia type 2
Familial isolated dilated cardiomyopathy
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
Atypical Werner syndrome
Autosomal codominant severe lipodystrophic laminopathy
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal dominant limb-girdle muscular dystrophy type 1B
Autosomal recessive Emery-Dreifuss muscular dystrophy
Charcot-Marie-Tooth disease type 2B1
Congenital muscular dystrophy due to LMNA mutation
Dilated cardiomyopathy - hypergonadotropic hypogonadism
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial partial lipodystrophy, Dunnigan type
Familial partial lipodystrophy, Köbberling type
Heart-hand syndrome, Slovenian type
Hutchinson-Gilford progeria syndrome
LMNA-related cardiocutaneous progeria syndrome
Laminopathy type Decaudain-Vigouroux
Left ventricular noncompaction
Lethal restrictive dermopathy
Mandibuloacral dysplasia with type A lipodystrophy
Progeria-associated arthropathy
Synonym(s):
(no synonyms)
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: -
Average age onset: -
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ANKRD26 Q9UPS8610855
CYCS P99999123970
MASTL Q96GX5608221
No signs/symptoms info available.