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Autosomal dominant macrothrombocytopenia
3 OMIM references -
4 associated genes
153 connected diseases
No signs/symptoms info
Disease Type of connection
Fetal and neonatal alloimmune thrombocytopenia
Glanzmann thrombasthenia
Familial isolated dilated cardiomyopathy
Young adult-onset Parkinsonism
Familial afibrinogenemia
Familial dysfibrinogenemia
Familial hypodysfibrinogenemia
Familial hypofibrinogenemia
Idiopathic hypereosinophilic syndrome
Estrogen resistance syndrome
Amyotrophic lateral sclerosis
Behavioral variant of frontotemporal dementia
Dedifferentiated liposarcoma
Juvenile myelomonocytic leukemia
Progressive non-fluent aphasia
Semantic dementia
Well-differentiated liposarcoma
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
Von Willebrand disease type 1
Von Willebrand disease type 2A
Von Willebrand disease type 2B
Von Willebrand disease type 2M
Von Willebrand disease type 2N
Von Willebrand disease type 3
Familial renal amyloidosis due to fibrinogen A alpha-chain variant
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
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Acute encephalopathy with biphasic seizures and late reduced diffusion
Generalized junctional epidermolysis bullosa, non-Herlitz type
Late-onset junctional epidermolysis bullosa
Localized junctional epidermolysis bullosa, non-Herlitz type
Achondrogenesis type 2
Autosomal dominant rhegmatogenous retinal detachment
Czech dysplasia, metatarsal type
Familial avascular necrosis of femoral head
Kniest dysplasia
Legg-Calvé-Perthes disease
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Autosomal dominant limb-girdle muscular dystrophy type 1A
Myotilin-related myofibrillar myopathy without spheroid body
Spheroid body myopathy
Familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis
Cerebral sinovenous thrombosis
Congenital factor II deficiency
Bilateral striopallidodentate calcinosis
Chronic myelomonocytic leukemia
Gastrointestinal stromal tumor
Infantile myofibromatosis
Myeloid neoplasm associated with PDGFRA rearrangement
Myeloid neoplasm associated with PDGFRB rearrangement
Precursor B-cell acute lymphoblastic leukemia
Unclassified chronic myeloproliferative disease
Autosomal recessive limb-girdle muscular dystrophy type 2P
Lissencephaly due to TUBA1A mutation
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Familial gastric cancer
Gastric linitis plastica
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
X-linked agammaglobulinemia
46,XY complete gonadal dysgenesis
46,XY partial gonadal dysgenesis
APC-related attenuated familial adenomatous polyposis
Acute myeloid leukemia with CEBPA somatic mutations
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Adult-onset distal myopathy due to VCP mutation
Alternating hemiplegia of childhood
Atelosteogenesis type I
Atelosteogenesis type III
Autosomal dominant Larsen syndrome
Benign paroxysmal torticollis of infancy
Boomerang dysplasia
Cabezas syndrome
Chronic intestinal pseudoobstruction
Chronic mucocutaneous candidiasis
Common variable immunodeficiency
Congenital dyserythropoietic anemia type I
Congenital short bowel syndrome
Congenital valvular dysplasia
Desmoid tumor
Early-onset autosomal dominant Alzheimer disease
Ehlers-Danlos syndrome with periventricular heterotopia
Familial adenomatous polyposis due to 5q22.2 microdeletion
Familial or sporadic hemiplegic migraine
Familial paroxysmal ataxia
Friedreich ataxia
Frontometaphyseal dysplasia
Fructose-1,6-bisphosphatase deficiency
Gardner syndrome
Gray platelet syndrome
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Infantile dystonia-parkinsonism
Inherited acute myeloid leukemia
LEOPARD syndrome
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Noonan syndrome
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Osteodysplasty, Melnick-Needles type
Otopalatodigital syndrome type 1
Otopalatodigital syndrome type 2
Parkinsonian-pyramidal syndrome
Periventricular nodular heterotopia
Posterior polar cataract
Pseudohypoaldosteronism type 2E
Pyruvate dehydrogenase E3-binding protein deficiency
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 2
Spinocerebellar ataxia type 36
Spinocerebellar ataxia type 6
Spinocerebellar ataxia type 7
Spondylocarpotarsal synostosis
Terminal osseous dysplasia - pigmentary defects
Total congenital cataract
Turcot syndrome with polyposis
Weaver syndrome
Benign familial epilepsy of childhood with rolandic spikes
Early-onset epileptic encephalopathy and intellectual deficit due to GRIN2A mutation
Epileptic encephalopathy with continuous spike-and-wave during sleep
Fibronectin glomerulopathy
Landau-Kleffner syndrome
Rolandic epilepsy - speech dyspraxia
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Cowden syndrome
Essential thrombocythemia
Familial capillary hemangioma
Myelofibrosis with myeloid metaplasia
Proteus syndrome
Ketoacidosis due to beta-ketothiolase deficiency
Mitochondrial trifunctional protein deficiency
(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: <1 / 1 000 000
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
ACTN1 P12814102575
ITGA2B P08514607759
ITGB3 P05106173470
TUBB1 Q9H4B7612901
No signs/symptoms info available.