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Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
1 OMIM reference -
1 associated gene
29 connected diseases
No signs/symptoms info
Disease Type of connection
Autosomal recessive nonsyndromic sensorineural deafness type DFNB
Acute infantile liver failure-multisystemic involvement syndrome
Familial isolated congenital asplenia
Pelizaeus-Merzbacher-like due to AIMP1 mutation
Cobblestone lissencephaly without muscular or ocular involvement
Fibronectin glomerulopathy
Distal 22q11.2 microdeletion syndrome
17p13.3 microduplication syndrome
Autosomal recessive limb-girdle muscular dystrophy type 2B
Burkitt lymphoma
Chronic mucocutaneous candidiasis
Congenital myopathy, Paradas type
Dedifferentiated liposarcoma
Distal myopathy with anterior tibial onset
Hypotrichosis simplex
Inflammatory myofibroblastic tumor
Leukoencephalopathy with brain stem and spinal cord involvement - lactate elevation
Lissencephaly due to LIS1 mutation
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Miller-Dieker syndrome
Miyoshi myopathy
Precursor T-cell acute lymphoblastic leukemia
Pulverulent cataract
Subcortical band heterotopia
Susceptibility to viral and mycobacterial infections
Well-differentiated liposarcoma
Amyotrophic lateral sclerosis
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
X-linked distal arthrogryposis multiplex congenita
- RI-CMT type B

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: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
KARS Q15046601421
No signs/symptoms info available.