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Distal hereditary motor neuropathy type 2
3 OMIM references -
3 associated genes
113 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Familial isolated dilated cardiomyopathy
Zonular cataract
Young adult-onset Parkinsonism
Cataract-microcornea syndrome
Giant cell glioblastoma
Gliosarcoma
Alpha-crystallinopathy
Fatal infantile hypertonic myofibrillar myopathy
Posterior polar cataract
Nuclear cataract
Muscular dystrophy, Selcen type
Coppock-like cataract
Parkinsonian-pyramidal syndrome
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
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
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 dominant Charcot-Marie-Tooth disease type 2E
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive limb-girdle muscular dystrophy type 2G
Autosomal recessive systemic lupus erythematosus
Behavioral variant of frontotemporal dementia
Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss
Charcot-Marie-Tooth disease type 1F
Colobomatous microphthalmia
Common variable immunodeficiency
Cone rod dystrophy
Dedifferentiated liposarcoma
Distal myopathy with posterior leg and anterior hand involvement
Fanconi anemia
Fibronectin glomerulopathy
Idiopathic CD4 lymphocytopenia
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
Severe early-onset axonal neuropathy due to NEFL deficiency
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):
- Distal spinal muscular atrophy type 2
- dHMN2
- dSMA2
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: -
Average age onset: adolescence / young
Average age of death: -
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
HSPB1 P04792602195
HSPB3 Q12988604624
HSPB8 Q9UJY1608014
No signs/symptoms info available.