KIF21A phenotypes and related 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: OMIM,NCBIGENE,ORPHANET,HGNC.

Top 5 symptoms associated to KIF21A gene



Symptoms // Phenotype % Cases
Superior rectus atrophy 100%
Levator palpebrae superioris atrophy 100%
Restrictive external ophthalmoplegia 100%
Compensatory chin elevation 100%
Congenital fibrosis of extraocular muscles 100%

Other less frequent symptoms

Patients with KIF21A gene alterations may also develop some of the following symptoms and phenotypes:

100% Bilateral ptosis 100% Exotropia 100% Esotropia 100% Autosomal dominant inheritance

Rare diseases associated to KIF21A gene

Here you can 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.


FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1

Alternate names

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 Is also known as ophthalmoplegia, congenital, blepharoptosis with absent eye movements, feom1 locus

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 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1

  • Superior rectus atrophy
  • Levator palpebrae superioris atrophy
  • Restrictive external ophthalmoplegia
  • Compensatory chin elevation
  • Congenital fibrosis of extraocular muscles


More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1

SOURCES: OMIM ORPHANET

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1

Alternate names

FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1 Is also known as ophthalmoplegia, congenital, blepharoptosis with absent eye movements, feom1 locus

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 FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1

  • Superior rectus atrophy
  • Levator palpebrae superioris atrophy
  • Restrictive external ophthalmoplegia
  • Compensatory chin elevation
  • Congenital fibrosis of extraocular muscles


More info about FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1

SOURCES: OMIM ORPHANET

Potential gene panels for KIF21A gene

MitoMet®Plus aCGH Analysis Panel

By Baylor Miraca Genetics Laboratories Baylor College of Medicine in United States. MitoMet®Plus aCGH Analysis that also includes the following genes: ADSL HBB NEUROD1 RAX COL2A1 COL3A1 STAT1 ELAC2 RB1 EYA4 And 627 more,

More info about this panel

KIF21A. Complete sequencing Panel

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the KIF21A gene.

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

By Instituto de Medicina Genomica Instituto de Medicina Genomica in Spain.

This panel specifically test the KIF21A gene.

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

By CGC Genetics in Portugal.

This panel specifically test the KIF21A gene.

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KIF21A-Related Congenital Fibrosis of the Extraocular Muscles Panel

By Exeter Molecular Genetics Laboratory in United Kingdom.

This panel specifically test the KIF21A gene.

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

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

More info about this panel

Eye Diseases - panels Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Eye Diseases - panels that also includes the following genes: ADAMTS10 TREX1 ADAMTS2 ACTG1 ALDH1A3 PHOX2A ADAMTS17 BCOR BMP7 VSX2 And 156 more,

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Neurogenetic Disorders - panels Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Neurogenetic Disorders - panels that also includes the following genes: AAAS HIBCH TREX1 ACTG2 MTHFR ABHD5 SPG21 ACAD9 AP4M1 ADAR And 584 more,

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Muscle Disease with Ptosis / External Ophthalmoplegia Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Muscle Disease with Ptosis / External Ophthalmoplegia that also includes the following genes: TUBB3 TWNK ALG2 CHRNA1 CHAT GFPT1 DPAGT1 KIF21A MTM1 POLG And 16 more,

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Muscle Weakness (Myopathy, Muscular Dystrophy) Panel

By Medizinisch Genetisches Zentrum München MGZ München in Germany. Muscle Weakness (Myopathy, Muscular Dystrophy) that also includes the following genes: ETFA DYNC1H1 MTO1 PYGM TTR HSPG2 LPIN1 MATR3 SYNE2 MEGF10 And 169 more,

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Fibrosis of extraocular muscles, congenital type 1 Panel

By Centogene AG - the Rare Disease Company in Germany.

This panel specifically test the KIF21A gene.

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AllNeuro panel Panel

By Centogene AG - the Rare Disease Company in Germany. AllNeuro panel that also includes the following genes: A2M CAV3 AMPD2 ARSI MAGI2 COL12A1 ALG2 GRID2 ITM2B TPP1 And 1195 more,

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Neuromuscular Comprehensive Panel Panel

By Courtagen Diagnostics Laboratory Courtagen Life Sciences in United States. Neuromuscular Comprehensive Panel that also includes the following genes: KIF21A COA3 FOXRED1 NDUFAF1 SCO1 FARS2 NDUFS3 TNNT3 NDUFV2 BSCL2 And 295 more,

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Intellectual Disability NGS Panel Panel

By Fulgent Genetics Fulgent Genetics in United States. Intellectual Disability NGS Panel that also includes the following genes: GFAP FKRP MAPT GAMT SACS ERCC6 AP3B1 NDUFA1 PRICKLE1 SPR And 382 more,

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KIF21A Panel

By Fulgent Genetics Fulgent Genetics in United States.

This panel specifically test the KIF21A gene.

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Fibrosis of extraocular muscles, congenital Panel

By Bioarray in Spain.

This panel specifically test the KIF21A gene.

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

By Reference Laboratory Genetics in Spain.

This panel specifically test the KIF21A gene.

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