KIF21A gene related symptoms and diseases

All the information presented here about the KIF21A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KIF21A gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Amblyopia Very Common - Between 80% and 100% cases
Sensory exotropia Very Common - Between 80% and 100% cases
Superior rectus atrophy Very Common - Between 80% and 100% cases
Levator palpebrae superioris atrophy Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with KIF21A gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Compensatory chin elevation
  • Restrictive external ophthalmoplegia
  • Congenital fibrosis of extraocular muscles
  • Congenital ptosis
  • Abnormal cranial nerve morphology
  • Progressive gait ataxia
  • Bilateral ptosis
  • Diplopia

And 16 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to KIF21A gene

Here you will find a list of rare diseases related to the KIF21A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES


Alternate names

CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES Is also known as feom, feom1 locus, ophthalmoplegia, congenital, blepharoptosis with absent eye movements

Description

Congenital fibrosis of the extraocular muscles (CFEOM) encompasses several different inherited strabismus syndromes characterized by congenital restrictive ophthalmoplegia affecting extraocular muscles innervated by the oculomotor and/or trochlear nerves. Classic CFEOM is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline. Involvement of the horizontal extraocular muscles is variable. If all affected members of a family have the classic phenotype with bilateral involvement, the disorder is referred to as 'CFEOM1' (Engle et al., 1997; Heidary et al., 2008).CFEOM2 (OMIM ), an autosomal recessive disorder caused by mutation in the ARIX gene (OMIM ) on chromosome 11q13, is characterized by bilateral ptosis with eyes fixed in an exotropic position.The CFEOM3 phenotype shows more variable clinical features: affected individuals may have unilateral eye involvement, may be able raise their eyes above midline, or may not have blepharoptosis. CFEOM3 is diagnosed in a family if even 1 member does not have classic findings of the disorder. CFEOM3 is a genetically heterogeneous disorder; CFEOM3A with or without extraocular involvement (OMIM ) is caused by mutation in the TUBB3 gene (OMIM ) on chromosome 16q24; CFEOM3B is caused by mutation in the KIF21A gene (OMIM ) on chromosome 12q12; and CFEOM3C (OMIM ) maps to chromosome 13q.CFEOM4 (OMIM ), also known as Tukel syndrome, maps to chromosome 21q.CFEOM5 (OMIM ) is caused by mutation in the COL25A1 gene (OMIM ) on chromosome 4q25.See also NOMENCLATURE below.

Most common symptoms of CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

  • Intellectual disability
  • Ataxia
  • Strabismus
  • Ptosis
  • Optic atrophy


More info about CONGENITAL FIBROSIS OF EXTRAOCULAR MUSCLES

SOURCES: OMIM ORPHANET


Potential gene panels for KIF21A 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

KIF21A. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KIF21A gene.

More info about this panel

KIF21A. Sequencing of the exons 2, 8, 20 and 21 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KIF21A gene.

More info about this panel

Fibrosis of extraocular muscles, congenital type 1 (sequence analysis of KIF21A gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KIF21A gene.

More info about this panel

KIF21A-Related Congenital Fibrosis of the Extraocular Muscles Panel

United Kingdom.

By Exeter Molecular Genetics Laboratory

This panel specifically test the KIF21A gene.

More info about this panel

Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Fibrosis of Extraocular Muscles (Ocular Motility Disorder) or Strabismus Syndromes Sequencing Panel with CNV Detection that also includes the following genes: ROBO3 SALL4 KIF21A CHN1 TUBB3 TUBB2B ECEL1 HOXA1 HOXB1 PHOX2A

More info about this panel

Eye Diseases - panels Panel

Germany.

By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Muscle Disease with Ptosis / External Ophthalmoplegia Panel

Germany.

By MGZ Medical Genetics Center Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: RYR1 SLC25A4 TWNK RRM2B CHAT KIF21A CHRNA1 CHRNB1 CHRND CHRNE

More info about this panel

Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

Germany.

By MGZ Medical Genetics Center Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: RYR1 BIN1 SCN4A SCO2 SDHA SGCA SGCB SGCD SGCG SLC22A5

More info about this panel

Fibrosis of extraocular muscles, congenital type 1 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KIF21A 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

Intellectual Disability NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3

More info about this panel

KIF21A Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KIF21A gene.

More info about this panel

Neuro-Ophthalmology Panel Panel

Finland.

By Blueprint Genetics Neuro-Ophthalmology Panel that also includes the following genes: SLC25A4 SOX2 SPG7 TWNK ACO2 TIMM8A TK2 WFS1 ROBO3 SALL4

More info about this panel

Fibrosis of extraocular muscles, congenital Panel

Spain.

By Bioarray

This panel specifically test the KIF21A gene.

More info about this panel

FIBROSIS OF EXTRAOCULAR MUSCLES, TYPE 1 (CFEOM1) Panel

Spain.

By Laboratorio de Genetica Clinica SL

This panel specifically test the KIF21A gene.

More info about this panel

FIBROSIS OF EXTRAOCULAR MUSCLES PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL FIBROSIS OF EXTRAOCULAR MUSCLES PANEL that also includes the following genes: KIF21A TUBB3 PHOX2A

More info about this panel

Congenital Extraocular Muscles Fibrosis Types 1 and 3B, Sequencing KIF21A Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KIF21A gene.

More info about this panel

Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes Panel

Spain.

By Reference Laboratory Genetics Congenital Extraocular Muscles Fibrosis , Panel Massive Sequencing (NGS) 4 Genes that also includes the following genes: COL25A1 KIF21A TUBB3 PHOX2A

More info about this panel


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