KANK1 gene related symptoms and diseases

All the information presented here about the KANK1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KANK1 gene

Symptoms // Phenotype % Cases
Nystagmus Very Common - Between 80% and 100% cases
Intellectual disability Very Common - Between 80% and 100% cases
Cerebral palsy Very Common - Between 80% and 100% cases
Spastic tetraplegia Very Common - Between 80% and 100% cases
Paraplegia Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with KANK1 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Tetraplegia
  • Neurodegeneration
  • Neonatal hypotonia
  • Cerebral atrophy
  • Ventriculomegaly
  • Muscular hypotonia
  • Generalized hypotonia
  • Abnormality of brain morphology

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

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Rare diseases associated to KANK1 gene

Here you will find a list of rare diseases related to the KANK1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


INHERITED CONGENITAL SPASTIC TETRAPLEGIA


Alternate names

INHERITED CONGENITAL SPASTIC TETRAPLEGIA Is also known as spastic quadriplegic cerebral palsy, inherited congenital spastic quadriplegia

Description

Inherited congenital spastic tetraplegia is a rare, genetic, neurological disease characterized by non-progressive, variable spastic quadriparesis in multiple members of a family, in the absence of additional factors complicating pregnancy or birth (e.g. perinatal asphyxia, congenital infection). Additional clinical features include congenital hypotonia, intellectual disability, and developmental delay. Dysphagia, dysarthria, exotropia, nystagmus, seizures and brain atrophy with ventriculomegaly may be also present.

Most common symptoms of INHERITED CONGENITAL SPASTIC TETRAPLEGIA

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis


More info about INHERITED CONGENITAL SPASTIC TETRAPLEGIA

SOURCES: ORPHANET MESH OMIM

CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2


Most common symptoms of CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2

  • Intellectual disability
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia
  • Ventriculomegaly


More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2

SOURCES: MESH OMIM


Potential gene panels for KANK1 gene

Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KANK1 gene.

More info about this panel

Inherited congenital spastic tetraplegia (sequence analysis of KANK1 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KANK1 gene.

More info about this panel

Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Nephrotic Syndrome (NS)/Focal Segmental Glomerulosclerosis (FSGS) Sequencing Panel with CNV Detection that also includes the following genes: SGPL1 SMARCAL1 TRPC6 WT1 NPHS2 ANLN CD2AP TP53RK ACTN4 SCARB2

More info about this panel

Nephrotic Syndrome via KANK1 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KANK1 gene.

More info about this panel

Hereditary kidney disorders - different panels Panel

Germany.

By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8

More info about this panel

Cerebral palsy type 2, spastic quadriplegic Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KANK1 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

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

Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel

Germany.

By CeGaT GmbH Hereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 ABHD12 NIPA1 REEP2 CPT1C KANK1 REEP1

More info about this panel

KANK1 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KANK1 gene.

More info about this panel


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