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Autosomal dominant Charcot-Marie-Tooth disease type 2F
1 OMIM reference -
1 associated gene
107 connected diseases
No signs/symptoms info
Disease Type of connection
Distal hereditary motor neuropathy type 2
Zonular cataract
Cataract-microcornea syndrome
Giant cell glioblastoma
Gliosarcoma
Familial isolated dilated cardiomyopathy
Young adult-onset Parkinsonism
Nuclear cataract
Coppock-like cataract
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Precursor B-cell acute lymphoblastic leukemia
Cowden syndrome
Proteus syndrome
Autosomal thrombocytopenia with normal platelets
Burkitt lymphoma
Congenital bilateral absence of vas deferens
Cystic fibrosis
Hereditary chronic pancreatitis
Idiopathic bronchiectasis
Male infertility with normal virilization due to meiosis defect
Precursor T-cell acute lymphoblastic leukemia
Cataract with Y-shaped suture opacities
Cerulean cataract
Parkinsonian-pyramidal syndrome
Total congenital cataract
Pulverulent cataract
Mandibulofacial dysostosis-microcephaly syndrome
Congenital factor XIII deficiency
Acute basophilic leukemia
Beta-thalassemia - X-linked thrombocytopenia
Congenital erythropoietic porphyria
Estrogen resistance syndrome
Thrombocytopenia with congenital dyserythropoietic anemia
X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
Leber congenital amaurosis
Muscular dystrophy, Selcen type
Senior-Loken syndrome
Hyper-IgM syndrome type 5
Hypoplasminogenemia
Ligneous conjunctivitis
46,XY partial gonadal dysgenesis
Acute myeloblastic leukemia with maturation
Acute myeloblastic leukemia without maturation
Acute myelomonocytic leukemia
Acute promyelocytic leukemia
Adult-onset distal myopathy due to VCP mutation
Alternating hemiplegia of childhood
Amyotrophic lateral sclerosis
Anophthalmia / microphthalmia - esophageal atresia
Autoimmune lymphoproliferative syndrome
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive systemic lupus erythematosus
Behavioral variant of frontotemporal dementia
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Colobomatous microphthalmia
Common variable immunodeficiency
Dedifferentiated liposarcoma
Distal myopathy with posterior leg and anterior hand involvement
Fanconi anemia
Fibronectin glomerulopathy
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated anophthalmia - microphthalmia
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Mosaic variegated aneuploidy syndrome
Muscle filaminopathy
Progressive non-fluent aphasia
Proximal spinal muscular atrophy type 1
Proximal spinal muscular atrophy type 2
Proximal spinal muscular atrophy type 3
Proximal spinal muscular atrophy type 4
Pseudohypoaldosteronism type 2E
Rapid-onset dystonia-parkinsonism
Semantic dementia
Septo-optic dysplasia
Spastic paraplegia - Paget disease of bone
Weaver syndrome
Well-differentiated liposarcoma
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
MODY syndrome
Permanent neonatal diabetes mellitus
Acral self-healing collodion baby
Bathing suit ichthyosis
Congenital non-bullous ichthyosiform erythroderma
Lamellar ichthyosis
Self-healing collodion baby
Atrial septal defect, ostium secundum type
Hypohidrotic ectodermal dysplasia with immunodeficiency
Left ventricular noncompaction
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Cap myopathy
Childhood-onset nemaline myopathy
Combined oxidative phosphorylation defect type 13
Congenital fiber-type disproportion myopathy
Infantile Refsum disease
Inflammatory myofibroblastic tumor
Intermediate nemaline myopathy
Neonatal adrenoleukodystrophy
Zellweger syndrome
Synonym(s):
- CMT2F
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
HSPB1 P04792602195
No signs/symptoms info available.