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Charcot-Marie-Tooth disease type 4D
1 OMIM reference -
1 associated gene
43 connected diseases
No signs/symptoms info
Disease Type of connection
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Autosomal dominant nonsyndromic intellectual deficit
Craniopharyngioma
Desmoid tumor
Familial gastric cancer
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Pilomatrixoma
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Baraitser-Winter syndrome
Behavioral variant of frontotemporal dementia
Bifunctional enzyme deficiency
Blackfan-Diamond anemia
Craniolenticulosutural dysplasia
Desmoplastic small round cell tumor
Ewing sarcoma
Extraskeletal Ewing sarcoma
Extraskeletal myxoid chondrosarcoma
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Inflammatory myofibroblastic tumor
Melanoma of soft part
Monoamine oxidase A deficiency
Perrault syndrome
Precursor T-cell acute lymphoblastic leukemia
Progressive non-fluent aphasia
Semantic dementia
Spastic paraplegia - Paget disease of bone
Spinocerebellar ataxia type 26
Translocation renal cell carcinoma
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
17q11 microdeletion syndrome
Constitutional mismatch repair deficiency syndrome
Encephalopathy due to hydroxykynureninuria
Hemolytic anemia due to glutathione reductase deficiency
Hereditary nonpolyposis colon cancer
Lethal polymalformative syndrome, Boissel type
Muir-Torre syndrome
Non-polyposis Turcot syndrome
Prolidase deficiency
Williams syndrome
Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia
Synonym(s):
- CMT4D
- HMSN, Lom type
- Hereditary motor and sensory neuropathy, Lom type
Classification (Orphanet):
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the nervous system -
Epidemiological data:
Class of prevalence: unknown
Average age onset: childhood
Average age of death: -
Type of inheritance: autosomal recessive
External references:
1 OMIM reference -
1 MeSH reference: C535716
Gene symbol UniProt reference OMIM reference
NDRG1 Q92597605262
No signs/symptoms info available.