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.
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
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
Search interest in KANK1
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 Portugal.
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 Portugal.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
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 Germany.
KANK1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KANK1 gene.
More info about this panel United States.
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