Charcot-Marie-Tooth disease dominant intermediate E
- Synonyms
- CHARCOT-MARIE-TOOTH NEUROPATHY WITH FOCAL SEGMENTAL GLOMERULONEPHRITIS
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (36 available)
Genes See tests for all associated and related genes
Also known as: C14orf151, C14orf173, CMTDIE, FSGS5, pp9484, INF2
Summary: inverted formin 2
Clinical features
Help- Abnormality of limbs
- Foot dorsiflexor weakness
Foot dorsiflexor weakness
- MedGen UID: 356163
- Concept ID: C1866141
- Finding: Finding
Abnormality of limbs
- Hammertoe
Hammertoe
- MedGen UID: 209712
- Concept ID: C1136179
- Finding: Anatomical Abnormality
Abnormality of limbs
- Pes cavus
Pes cavus
- MedGen UID: 675590
- Concept ID: C0728829
- Finding: Congenital Abnormality
Abnormality of limbs
- Foot dorsiflexor weakness
- Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
Elevated circulating creatine kinase concentration
- MedGen UID: 69128
- Concept ID: C0241005
- Finding: Finding
Abnormality of metabolism/homeostasis
- Elevated circulating creatine kinase concentration
- Abnormality of the genitourinary system
- Focal segmental glomerulosclerosis
Focal segmental glomerulosclerosis
- MedGen UID: 4904
- Concept ID: C0017668
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Proteinuria
Proteinuria
- MedGen UID: 10976
- Concept ID: C0033687
- Finding: Finding
Abnormality of the genitourinary system
- Stage 5 chronic kidney disease
Stage 5 chronic kidney disease
- MedGen UID: 384526
- Concept ID: C2316810
- Finding: Disease or Syndrome
Abnormality of the genitourinary system
- Focal segmental glomerulosclerosis
- Abnormality of the musculoskeletal system
- Claw hand deformity
Claw hand deformity
- MedGen UID: 1814631
- Concept ID: C5702555
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Distal lower limb amyotrophy
Distal lower limb amyotrophy
- MedGen UID: 324515
- Concept ID: C1836451
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Distal muscle weakness
Distal muscle weakness
- MedGen UID: 140883
- Concept ID: C0427065
- Finding: Finding
Abnormality of the musculoskeletal system
- Distal upper limb amyotrophy
Distal upper limb amyotrophy
- MedGen UID: 867223
- Concept ID: C4021581
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Claw hand deformity
- Abnormality of the nervous system
- Areflexia
Areflexia
- MedGen UID: 115943
- Concept ID: C0234146
- Finding: Finding
Abnormality of the nervous system
- Axonal loss
Axonal loss
- MedGen UID: 316962
- Concept ID: C1832338
- Finding: Finding
Abnormality of the nervous system
- Distal sensory impairment
Distal sensory impairment
- MedGen UID: 335722
- Concept ID: C1847584
- Finding: Finding
Abnormality of the nervous system
- Hyporeflexia
Hyporeflexia
- MedGen UID: 195967
- Concept ID: C0700078
- Finding: Finding
Abnormality of the nervous system
- Onion bulb formation
Onion bulb formation
- MedGen UID: 376237
- Concept ID: C1847906
- Finding: Finding
Abnormality of the nervous system
- Peripheral neuropathy
Peripheral neuropathy
- MedGen UID: 18386
- Concept ID: C0031117
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Steppage gait
Steppage gait
- MedGen UID: 98105
- Concept ID: C0427149
- Finding: Finding
Abnormality of the nervous system
- Areflexia
- Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Sensorineural hearing loss disorder
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