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  2. Rare Disease Genes
  3. JPH1

JPH1 gene related symptoms and diseases

All the information presented here about the JPH1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.

Table of contents:

Top 5 symptoms and clinical features associated to JPH1 gene

Symptoms // Phenotype % Cases
Global developmental delay Very Common - Between 80% and 100% cases
Lower limb muscle weakness Very Common - Between 80% and 100% cases
Hand muscle atrophy Very Common - Between 80% and 100% cases
Vocal cord paresis Very Common - Between 80% and 100% cases
Abnormal cranial nerve morphology Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with JPH1 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Decreased number of peripheral myelinated nerve fibers
  • Decreased motor nerve conduction velocity
  • Decreased nerve conduction velocity
  • Split hand
  • Peripheral demyelination
  • Distal sensory impairment
  • Distal amyotrophy
  • Peripheral axonal neuropathy

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to JPH1 gene

Here you will find a list of rare diseases related to the JPH1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

Alternate names

AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS Is also known as autosomal recessive axonal charcot-marie-tooth disease type 2k, autosomal recessive axonal cmt4c4, charcot-marie-tooth disease, axonal, autosomal recessive, type 2k, arcmt2k, charcot-marie-tooth neuropathy, axonal, type 2k

Description

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness (ARCMT2K or CMT4C4) is a severe early-onset form of axonal CMT peripheral sensorimotor polyneuropathy.

Most common symptoms of AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy


More info about AUTOSOMAL RECESSIVE CHARCOT-MARIE-TOOTH DISEASE WITH HOARSENESS

SOURCES: ORPHANET OMIM


Potential gene panels for JPH1 gene

JPH1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the JPH1 gene.

More info about this panel
United States.

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