CSPP1 gene related symptoms and diseases
All the information presented here about the CSPP1 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 CSPP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Common - Between 50% and 80% cases |
| Cerebellar vermis hypoplasia | Common - Between 50% and 80% cases |
| Encephalocele | Common - Between 50% and 80% cases |
| Apnea | Common - Between 50% and 80% cases |
| Dandy-Walker malformation | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with CSPP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Oculomotor apraxia
Not very common - Between 30% and 50% cases
- Elongated superior cerebellar peduncle
- Occipital encephalocele
- Short ribs
- Ataxia
- Nystagmus
- Molar tooth sign on MRI
- Strabismus
And 149 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to CSPP1 gene
Here you will find a list of rare diseases related to the CSPP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
MECKEL SYNDROME
Alternate names
MECKEL SYNDROME Is also known as meckel-gruber syndrome
Description
Meckel syndrome (MKS) is a rare, lethal, genetic, multiple congenital anomaly disorder characterized by the triad of brain malformation (mainly occipital encephalocele), large polycystic kidneys, and polydactyly, as well as associated abnormalities that may include cleft lip/palate, cardiac and genital anomalies, central nervous system (CNS) malformations, liver fibrosis, and bone dysplasia.
Most common symptoms of MECKEL SYNDROME
- Microcephaly
- Hypertelorism
- Micrognathia
- Cleft palate
- Cataract
More info about MECKEL SYNDROME
SOURCES: ORPHANET
JOUBERT SYNDROME
Alternate names
JOUBERT SYNDROME Is also known as cerebelloparenchymal disorder iv, joubert syndrome type a, classic joubert syndrome, pure joubert syndrome, cpd iv, joubert-boltshauser syndrome
Description
Joubert syndrome (JS) is characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.
Most common symptoms of JOUBERT SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Scoliosis
- Ataxia
More info about JOUBERT SYNDROME
SOURCES: ORPHANET
JOUBERT SYNDROME 21; JBTS21
Description
Joubert syndrome is an autosomal recessive congenital condition characterized by a unique brainstem and cerebellar malformation comprising cerebellar vermis hypoplasia and/or dysplasia, elongated superior cerebellar peduncles, and deepened interpeduncular fossa, which together are recognized as the 'molar tooth sign' on brain MRI. The most common clinical features include delayed psychomotor development, hypotonia, abnormal respiratory patterns in the neonatal period, oculomotor apraxia, and cerebellar ataxia. Additional features may include retinal degeneration, cystic kidney, liver fibrosis, and polydactyly. It is caused by ciliary defects and is part of a spectrum of disorders known as 'ciliopathies' (summary by Akizu et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see {213300}.
Most common symptoms of JOUBERT SYNDROME 21; JBTS21
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about JOUBERT SYNDROME 21; JBTS21
SOURCES: OMIM
JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY
Alternate names
JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY Is also known as jbts with jatd, joubert syndrome with jatd
Description
Joubert syndrome with Jeune asphyxiating thoracic dystrophy (JATD) is an extremely rare genetic bone disorder characterized by the classic features of Joubert syndrome (i.e. malformation of the brainstem causing ataxia, hypotonia,cognitive impairment, and abnormal eyemovements), associated with the skeletal anomalies found in JATD including short-rib dysplasia and narrow thorax causing respiratory failure, short limbs, and metaphyseal changes.
Most common symptoms of JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY
- Global developmental delay
- Short stature
- Generalized hypotonia
- Hypertelorism
- Failure to thrive
More info about JOUBERT SYNDROME WITH JEUNE ASPHYXIATING THORACIC DYSTROPHY
SOURCES: ORPHANET
Search interest in CSPP1
Potential gene panels for CSPP1 gene
Joubert/Meckel-Gruber syndrome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Joubert/Meckel-Gruber syndrome Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel United States.
Meckel Gruber Syndrome Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Meckel Gruber Syndrome Sequencing Panel that also includes the following genes: KIF14 B9D1 TCTN3 TMEM216 TCTN2 CSPP1 TMEM107 TMEM67 B9D2 CEP290
More info about this panel United States.
Renal Cystic Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel United States.
Meckel Gruber Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: KIF14 B9D1 TCTN3 TMEM216 TCTN2 CSPP1 TMEM107 TMEM67 B9D2 CEP290
More info about this panel United States.
Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Joubert/Meckel Gruber Syndrome Deletion/Duplication Panel that also includes the following genes: CEP41 TMEM237 KIF14 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel United States.
Ataxia Exome Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Ataxia Exome Panel that also includes the following genes: BCS1L RTN2 SACS SCN1A SCN2A SCN8A SCO1 SDHA SDHD SLC16A2
More info about this panel United States.
Joubert syndrome (NGS panel for 24 genes) Panel
Portugal.
By CGC Genetics Joubert syndrome (NGS panel for 24 genes) that also includes the following genes: CEP41 TMEM237 ZNF423 INPP5E AHI1 TCTN3 EXOC8 TMEM216 ARL13B TTC21B
More info about this panel Portugal.
Ciliopathies (NGS panel for 90 genes) Panel
Portugal.
By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panel Portugal.
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B CSPP1 CEP120 WDR34 IFT140 WDR35
More info about this panel Portugal.
Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Joubert and Meckel-Gruber Syndromes Sequencing Panel with CNV Detection that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
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.
Ciliopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panel United States.
Joubert syndrome and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders NGS panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders Deletion / Duplication panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Joubert syndrome and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Joubert syndrome and related disorders Comprehensive panel that also includes the following genes: CEP41 TMEM237 SUFU ZNF423 KIF14 KIAA0586 ARMC9 INPP5E AHI1 PIBF1
More info about this panel United States.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
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.
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.
Joubert Syndrome Panel Panel
Germany.
By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel Germany.
Joubert Syndrome Panel Panel
Germany.
By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel Germany.
Joubert Syndrome Panel Panel
Germany.
By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel Germany.
Joubert Syndrome Panel Panel
Germany.
By CeGaT GmbH Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel Germany.
Joubert Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Joubert Syndrome that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel Estonia.
Skeletal Ciliopathies Panel
Estonia.
By Asper Biogene Asper Biogene LLC Skeletal Ciliopathies that also includes the following genes: IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 COMP TCTN3 DYNC2LI1 TTC21B
More info about this panel Estonia.
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.
Joubert Syndrome Panel Panel
United States.
By Molecular Vision Laboratory Joubert Syndrome Panel that also includes the following genes: CEP41 TMEM237 INPP5E AHI1 B9D1 TCTN3 TMEM216 ARL13B TTC21B OFD1
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.
Invitae Joubert and Meckel-Gruber Syndromes Panel Panel
United States.
By Invitae Invitae Joubert and Meckel-Gruber Syndromes Panel that also includes the following genes: CEP41 TMEM237 ZNF423 KIAA0586 INPP5E AHI1 B9D1 TCTN3 CEP104 TMEM216
More info about this panel United States.
Invitae Ciliopathies Panel Panel
United States.
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panel United States.
Invitae Skeletal Ciliopathies Panel Panel
United States.
By Invitae Invitae Skeletal Ciliopathies Panel that also includes the following genes: IFT122 WDR19 EVC2 KIAA0586 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34
More info about this panel United States.
CSPP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the CSPP1 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
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.
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 WDR34 IFT140 WDR35
More info about this panel Finland.
Joubert Syndrome Panel Panel
Finland.
By Blueprint Genetics Joubert Syndrome Panel that also includes the following genes: CEP41 CFAP410 TMEM237 ZNF423 KIAA0586 ARMC9 INPP5E AHI1 B9D1 TCTN3
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34 IFT140
More info about this panel Spain.
SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SÍNDROME DE MECKEL/ MECKEL-GRUBER/ MECKEL-GRUBER-LIKE NGS PANEL that also includes the following genes: TMEM237 KIAA0586 TXNDC15 AHI1 B9D1 TMEM216 TTC21B TCTN2 TCTN1 CSPP1
More info about this panel Spain.
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