KIZ gene related symptoms and diseases
All the information presented here about the KIZ 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 KIZ gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Blindness | Very Common - Between 80% and 100% cases |
| Hypoplasia of penis | Uncommon - Between 30% and 50% cases |
| Obesity | Uncommon - Between 30% and 50% cases |
| Hypogonadism | Uncommon - Between 30% and 50% cases |
| Glaucoma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with KIZ gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Photophobia
- Conductive hearing impairment
- Ophthalmoplegia
- Type II diabetes mellitus
- Optic atrophy
- Abnormality of retinal pigmentation
- Abnormal electroretinogram
- Hyperinsulinemia
And 24 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to KIZ gene
Here you will find a list of rare diseases related to the KIZ. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
RETINITIS PIGMENTOSA 69; RP69
Description
Retinitis pigmentosa (RP), also designated rod-cone dystrophy, is characterized by initial night blindness due to rod dysfunction, with subsequent progressive constriction of visual fields, abnormal color vision, and eventual loss of central vision due to cone photoreceptor involvement (summary by El Shamieh et al., 2014).For a discussion of genetic heterogeneity of retinitis pigmentosa, see {268000}.
Most common symptoms of RETINITIS PIGMENTOSA 69; RP69
- Blindness
- Rod-cone dystrophy
- Nyctalopia
- Ichthyosis
- Abnormality of skin pigmentation
More info about RETINITIS PIGMENTOSA 69; RP69
SOURCES: OMIM
RETINITIS PIGMENTOSA
Description
Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades.
Most common symptoms of RETINITIS PIGMENTOSA
- Intellectual disability
- Nystagmus
- Sensorineural hearing impairment
- Cataract
- Visual impairment
More info about RETINITIS PIGMENTOSA
SOURCES: ORPHANET
Search interest in KIZ
Potential gene panels for KIZ gene
Retinitis Pigmentosa Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
KIZ Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the KIZ gene.
More info about this panel Germany.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Autosomal Recessive Retinitis Pigmentosa 69 (RP69) via KIZ Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the KIZ gene.
More info about this panel United States.
Retinitis pigmentosa, autosomal recessive and X-linked Panel Panel
Germany.
By CeGaT GmbH Retinitis pigmentosa, autosomal recessive and X-linked Panel that also includes the following genes: RHO RLBP1 RP1 RP2 RPE65 RPGR SAG TUB TULP1 USH2A
More info about this panel Germany.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
KIZ Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the KIZ gene.
More info about this panel United States.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Retinitis Pigmentosa Panel Panel
Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panel Finland.
Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Nonsyndromic Autosomal Recessive retinitis pigmentosa: gene sequencing panel that also includes the following genes: RHO RLBP1 RP1 RPE65 SAG TULP1 USH2A CLRN1 BEST1 ARL6
More info about this panel Canada.
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