Charcot-marie-tooth disease, dominant intermediate e

Preferred Label : Charcot-marie-tooth disease, dominant intermediate e;

Symbol : CMTDIE;

CISMeF acronym : CMTDIE;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Charcot-marie-tooth neuropathy with focal segmental glomerulonephritis;

Description : Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy (summary by Boyer et al., 2011). Isolated focal segmental glomerulosclerosis-5 (FSGS5; 613237) is also caused by heterozygous mutation in the INF2 gene. For a discussion of genetic heterogeneity of CMTDI, see 606482.;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the inverted formin 2 gene (INF2, 610982.0006);

Prefixed ID : #614455;

Details

Origin ID

614455;

UMLS CUI

C4302667;

Currated CISMeF NLP mapping
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease - nephropathy [ICD-11 More detail]
- Charcot-Marie-Tooth disease dominant intermediate E [DO Concept]
DO Cross reference
- Charcot-Marie-Tooth disease dominant intermediate E [DO Concept]
Genes related to phenotype
- Inverted formin 2 [OMIM gene]
HPO term(s)
- Areflexia [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axonal loss [HPO term]
- Distal lower limb amyotrophy [HPO term]
- Distal muscle weakness [HPO term]
- Distal sensory impairment [HPO term]
- Distal upper limb amyotrophy [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Foot dorsiflexor weakness [HPO term]
- Hammertoe [HPO term]
- Hyporeflexia [HPO term]
- Onion bulb formation [HPO term]
- Peripheral neuropathy [HPO term]
- Pes cavus [HPO term]
- Progressive [HPO term]
- Proteinuria [HPO term]
- Split hand [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- Steppage gait [HPO term]
ORDO concept(s)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E [ORDO Disease]
- Autosomal dominant intermediate Charcot-Marie-Tooth disease type E (disorder) [SNOMED CT concept]
- Charcot-Marie-Tooth disease dominant intermediate E [DO Concept]

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