NEFH gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NEFH gene

Symptoms // Phenotype % Cases
Muscle weakness Very Common - Between 80% and 100% cases
Microcephaly Uncommon - Between 30% and 50% cases
Proximal muscle weakness Uncommon - Between 30% and 50% cases
Difficulty walking Uncommon - Between 30% and 50% cases
Pes cavus Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NEFH gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Babinski sign
  • Elevated serum creatine phosphokinase
  • Hyporeflexia
  • Myopathy
  • Peripheral neuropathy
  • Gait disturbance
  • Fatigable weakness of swallowing muscles
  • Fatigable weakness of bulbar muscles

And 63 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NEFH gene

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


AMYOTROPHIC LATERAL SCLEROSIS


Alternate names

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als, amyotrophic lateral sclerosis 1, autosomal dominant, fals, lou gehrig disease, charcot disease, amyotrophic lateral sclerosis 1, familial

Description

Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

Most common symptoms of AMYOTROPHIC LATERAL SCLEROSIS

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


More info about AMYOTROPHIC LATERAL SCLEROSIS

SOURCES: OMIM MESH ORPHANET

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC


Alternate names

CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC Is also known as charcot-marie-tooth neuropathy, type 2cc

Description

Axonal Charcot-Marie-Tooth disease type 2CC is an autosomal dominant peripheral neuropathy that predominantly affects the lower limbs, resulting in muscle weakness and atrophy and gait impairment. Other features include distal sensory impairment and less severe involvement of the upper limbs. The age at onset and severity are variable (summary by Rebelo et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT type 2, see CMT2A (OMIM ).

Most common symptoms of CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

  • Muscle weakness
  • Peripheral neuropathy
  • Gait disturbance
  • Myopathy
  • Hyporeflexia


More info about CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC; CMT2CC

SOURCES: OMIM


Potential gene panels for NEFH gene

MitoMet®Plus aCGH Analysis Panel

United States.

By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65

More info about this panel

Charcot-Marie-Tooth Hereditary Neuropathy Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Charcot-Marie-Tooth Hereditary Neuropathy Panel that also includes the following genes: SBF1 SLC12A6 SPG11 SURF1 TFG VCP YARS PRX BSCL2 GDAP1

More info about this panel

Amyotrophic Lateral Sclerosis Panel

United States.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Amyotrophic Lateral Sclerosis that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel

Amyotrophic lateral sclerosis, susceptibility to (sequence analysis of NEFH gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the NEFH gene.

More info about this panel

Amyotrophic lateral sclerosis, susceptibility to Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NEFH gene.

More info about this panel

AllNeuro panel Panel

Germany.

By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1

More info about this panel

ALS panel Panel

Germany.

By Centogene AG - the Rare Disease Company ALS panel that also includes the following genes: ATXN2 SOD1 TARDBP UBQLN2 VAPB VCP VEGFA FIG4 OPTN SPART

More info about this panel

Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel

Germany.

By CeGaT GmbH Hereditary Spastic Paraplegias (HSP) and differential diagnoses Panel that also includes the following genes: RTN2 SACS AIMP1 SLC16A2 SLC1A4 SLC25A15 SOD1 SOX10 SPG11 ATL1

More info about this panel

Amyotrophic Lateral Sclerosis (ALS) Panel Panel

Germany.

By CeGaT GmbH Amyotrophic Lateral Sclerosis (ALS) Panel that also includes the following genes: ATXN1 ATXN2 SOD1 SPG11 SQSTM1 TAF15 TARDBP TBK1 TUBA4A UBQLN2

More info about this panel

Amyotrophic lateral sclerosis Panel

Poland.

By Laboratory of Human Genetics GENOMED Health Care Center Amyotrophic lateral sclerosis that also includes the following genes: SOD1 SQSTM1 TARDBP TBK1 UBQLN4 TUBA4A VAPB CHCHD10 FIG4 OPTN

More info about this panel

NGS panel - dementia Panel

Netherlands.

By Genome Diagnostics VU University Medical Center NGS panel - dementia that also includes the following genes: SNCA SNCB SOD1 SORL1 SQSTM1 TARDBP TYROBP UBAP1 UBQLN2 VAPB

More info about this panel

NEFH Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NEFH gene.

More info about this panel

Charcot-Marie-Tooth Neuropathy Panel Panel

Finland.

By Blueprint Genetics Charcot-Marie-Tooth Neuropathy Panel that also includes the following genes: SACS SBF1 SCN11A SCN9A DST SLC12A6 SPG11 ATL1 SPTLC1 SPTLC2

More info about this panel

AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS (ALS) (AUTOSOMAL DOMINANT) that also includes the following genes: SOD1 SQSTM1 TARDBP VAPB VCP CHCHD10 FIG4 CHMP2B DCTN1 C9orf72

More info about this panel

AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL AMYOTROPHIC LATERAL SCLEROSIS: ALS NGS PANEL that also includes the following genes: ATXN2 SOD1 SPG11 SQSTM1 TARDBP TBK1 UBQLN2 VAPB VCP CHCHD10

More info about this panel


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