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  2. Rare Disease Genes
  3. SBF2-AS1

SBF2-AS1 gene related symptoms and diseases

All the information presented here about the SBF2-AS1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to SBF2-AS1 gene

Symptoms // Phenotype % Cases
Hearing impairment Very Common - Between 80% and 100% cases
Congenital glaucoma Very Common - Between 80% and 100% cases
Split hand Very Common - Between 80% and 100% cases
Sensorimotor neuropathy Very Common - Between 80% and 100% cases
Foot dorsiflexor weakness Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SBF2-AS1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hammertoe
  • Steppage gait
  • Decreased motor nerve conduction velocity
  • Decreased number of peripheral myelinated nerve fibers
  • Sensory neuropathy
  • Onion bulb formation
  • Megalocornea
  • Abnormal cranial nerve morphology

And 25 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SBF2-AS1 gene

Here you will find a list of rare diseases related to the SBF2-AS1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

Alternate names

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2 Is also known as charcot-marie-tooth disease, with focally folded myelin sheaths, autosomal recessive, type 4b2, cmt4b2, charcot-marie-tooth neuropathy, type 4b2

Description

Charcot-Marie-Tooth disease type 4B2 (CMT4B2) is a subtype of Charcot-Marie-Tooth type 4 characterized by a severe, early childhood-onset of demyelinating sensorimotor neuropathy, early-onset glaucoma, focally folded myelin sheaths in the peripheral nerves, severely reduced nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Severe visual impairment leading to visual loss has also been reported.

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Pain
  • Visual impairment


More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B2

SOURCES: OMIM ORPHANET MESH



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