WASHC5 gene related symptoms and diseases
All the information presented here about the WASHC5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to WASHC5 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Uncommon - Between 30% and 50% cases |
Hypoplastic fingernail | Uncommon - Between 30% and 50% cases |
Pierre-Robin sequence | Uncommon - Between 30% and 50% cases |
Missing ribs | Uncommon - Between 30% and 50% cases |
Single umbilical artery | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with WASHC5 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Ectopic anus
- Enlarged cisterna magna
- Communicating hydrocephalus
- Mitral stenosis
- Abnormal mitral valve morphology
- Adrenal hypoplasia
- Aplasia/Hypoplasia of the nipples
- Complete atrioventricular canal defect
And 148 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to WASHC5 gene
Here you will find a list of rare diseases related to the WASHC5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
3C SYNDROME
Alternate names
3C SYNDROME Is also known as dandy-walker-like malformation with atrioventricular septal defect, craniocerebellocardiac dysplasia, 3c syndrome, ritscher-schinzel syndrome
Description
Cranio-cerebello-cardiac (3C) syndrome is a rare multiple congenital anomalies syndrome characterized by craniofacial (prominent occiput and forehead, hypertelorism, ocular coloboma, cleft palate), cerebellar (Dandy-Walker malformation, cerebellar vermis hypoplasia) and cardiac (tetralogy of Fallot, atrial and ventricular septal defects) anomalies (see these terms).
Most common symptoms of 3C SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Generalized hypotonia
- Microcephaly
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8
Alternate names
AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8 Is also known as spg8
Description
Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).
Most common symptoms of AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8
- Ataxia
- Pain
- Spasticity
- Peripheral neuropathy
- Hyperreflexia
Search interest in WASHC5
Potential gene panels for WASHC5 gene
HSP, Supplemental Dominant Evaluation Panel
By Athena Diagnostics Inc HSP, Supplemental Dominant Evaluation that also includes the following genes: RTN2 BSCL2 NIPA1 WASHC5 HSPD1 SLC33A1
More info about this panelHSP, Comprehensive Evaluation Panel
By Athena Diagnostics Inc HSP, Comprehensive Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 SPART
More info about this panelHSP, Supplemental Sporadic Evaluation Panel
By Athena Diagnostics Inc HSP, Supplemental Sporadic Evaluation that also includes the following genes: RTN2 SACS SPG11 ATL1 BSCL2 PNPLA6 NIPA1 SPART SPG21 ZFYVE26
More info about this panelHSP, Complete Dominant Evaluation Panel
By Athena Diagnostics Inc HSP, Complete Dominant Evaluation that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panelHereditary Spastic Paraplegia Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hereditary Spastic Paraplegia Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 TFG
More info about this panelHereditary Spastic Paraplegia Exome Panel Panel
By Genetic Services Laboratory University of Chicago Hereditary Spastic Paraplegia Exome Panel that also includes the following genes: RTN2 SACS SLC16A2 SLC2A1 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1
More info about this panelSpastic paraplegia 8, autosomal dominant Panel
By Human Genetics University Hospital Bern
This panel specifically test the WASHC5 gene.
More info about this panelHereditary spastic paraplegia AD (NGS panel for 10 genes) Panel
By CGC Genetics Hereditary spastic paraplegia AD (NGS panel for 10 genes) that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panelSpastic paraplegia 8 (SPG8, sequence analysis of KIAA0196 gene) Panel
By CGC Genetics
This panel specifically test the WASHC5 gene.
More info about this panelHereditary spastic paraplegia (NGS panel for 43 genes) Panel
By CGC Genetics Hereditary spastic paraplegia (NGS panel for 43 genes) that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 TFG ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelSpastic paraplegia type 8 (SPG8, deletion/duplication analysis of WASHC5 gene) Panel
By CGC Genetics
This panel specifically test the WASHC5 gene.
More info about this panelRitscher-Schinzel syndrome 1 (sequence analysis of WASHC5 gene) Panel
By CGC Genetics
This panel specifically test the WASHC5 gene.
More info about this panelRitscher-Schinzel syndrome 1 (sequence analysis of WASHC5 gene) Panel
By CGC Genetics
This panel specifically test the WASHC5 gene.
More info about this panelSpastic paraplegia type 8 (SPG8, deletion/duplication analysis of WASHC5 gene) Panel
By CGC Genetics
This panel specifically test the WASHC5 gene.
More info about this panelSpastic Paraplegia 8 via WASHC5/KIAA0196 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the WASHC5 gene.
More info about this panelPure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Pure Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SPG11 ATL1 SPAST SPG7 CAPN1 ERLIN1 NIPA1 BICD2 ZFR
More info about this panelComplex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Complex Hereditary Spastic Paraplegia Sequencing Panel with CNV Detection that also includes the following genes: SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1 USP8
More info about this panelHereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Hereditary Spastic Paraplegia Comprehensive Sequencing Panel with CNV Detection that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 TFG UCHL1
More info about this panelMental retardation - different panels Panel
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 panelMacrocephaly Panel
By MGZ Medical Genetics Center Macrocephaly that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panelNeurogenetic Disorders - panels Panel
By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelAllNeuro panel Panel
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 panelSpastic paraplegia 8, autosomal dominant Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the WASHC5 gene.
More info about this panelSpastic paraplegia AD panel Panel
By Centogene AG - the Rare Disease Company Spastic paraplegia AD panel that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A
More info about this panelHereditary Spastic Paraplegias (HSP) and differential diagnoses Panel Panel
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 panelHereditary spastic paraplegia (HSP), autosomal dominant and X-linked Panel Panel
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 panelHereditary Spastic Paraplegia Panel
By Asper Biogene Asper Biogene LLC Hereditary Spastic Paraplegia that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ERLIN2 BSCL2 PNPLA6 NIPA1
More info about this panelBrain malformations Panel
By Asper Biogene Asper Biogene LLC Brain malformations that also includes the following genes: STIL SLC12A6 SNAP29 TCF4 CEP41 TUBB2A TUBG1 VLDLR VRK1 ACTB
More info about this panelInvitae Hereditary Spastic Paraplegia Autosomal Dominant Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Autosomal Dominant Panel that also includes the following genes: RTN2 ATL1 SPAST VAMP1 BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A
More info about this panelInvitae Hereditary Spastic Paraplegia Comprehensive Panel Panel
By Invitae Invitae Hereditary Spastic Paraplegia Comprehensive Panel that also includes the following genes: RTN2 SACS SLC16A2 KDM5C SPG11 ATL1 SPAST SPG7 VAMP1 ERLIN2
More info about this panelSPASTIC PARAPLEGIA A.D. Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases SPASTIC PARAPLEGIA A.D. that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panelHereditary Neuropathies: Sequencing Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Sequencing Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelHereditary Neuropathies: Deletion/Duplication Panel Panel
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Hereditary Neuropathies: Deletion/Duplication Panel that also includes the following genes: SACS SCN9A SLC12A6 SLC1A3 SPG11 ATL1 SPAST SPG7 SPTBN2 SPTLC1
More info about this panelSpastic Paraplegia NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Spastic Paraplegia NGS Panel that also includes the following genes: RTN2 SLC16A2 SPG11 ATL1 SPAST SPG7 ACOX1 BSCL2 NIPA1 SPART
More info about this panelKIAA0196 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the WASHC5 gene.
More info about this panelSpastic Paraplegia Panel Panel
By Blueprint Genetics Spastic Paraplegia Panel that also includes the following genes: SACS SLC16A2 SLC25A15 KDM5C BTD SPG11 ATL1 SPAST SPG7 SPR
More info about this panelMacrocephaly / Overgrowth Syndrome Panel Panel
By Blueprint Genetics Macrocephaly / Overgrowth Syndrome Panel that also includes the following genes: SYN1 MED12 TSC1 TSC2 NSD1 CCND2 RAB39B MLC1 BRWD3 CDKN1C
More info about this panelAmyotrophic Lateral Sclerosis Panel Panel
By Blueprint Genetics Amyotrophic Lateral Sclerosis Panel that also includes the following genes: SOD1 SPG11 ATL1 SPAST SQSTM1 TARDBP TUBA4A UBQLN2 VAPB VCP
More info about this panelSpastic paraplegia 8, autosomal dominant Panel
By Bioarray
This panel specifically test the WASHC5 gene.
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL (AUTOSOMAL DOMINANT) that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A
More info about this panelSPASTIC PARAPLEGIA, FAMILIAL NGS PANEL Panel
By Laboratorio de Genetica Clinica SL SPASTIC PARAPLEGIA, FAMILIAL NGS PANEL that also includes the following genes: RTN2 SACS SLC16A2 SPG11 ATL1 SPAST SPG7 TFG TTR VCP
More info about this panelSpastic paraplegia panel, autosomal dominant Panel
By LifeLabs Genetics Spastic paraplegia panel, autosomal dominant that also includes the following genes: RTN2 ATL1 SPAST BSCL2 NIPA1 REEP1 ZFYVE27 WASHC5 HSPD1 KIF5A
More info about this panelAutosomal Dominant Spastic Paraplegia Type 8 , Sequencing KIAA0196 Panel
By Reference Laboratory Genetics
This panel specifically test the WASHC5 gene.
More info about this panelAutosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Autosomal Dominant Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: ATL1 SPAST BSCL2 NIPA1 REEP1 WASHC5 HSPD1 KIF5A SLC33A1
More info about this panelFamilial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes Panel
By Reference Laboratory Genetics Familial Spastic Paraplegia , Panel Massive Sequencing (NGS) 22 Genes that also includes the following genes: SPG11 ATL1 SPAST SPG7 BSCL2 PNPLA6 NIPA1 GJC2 SPART ZFYVE26
More info about this panelHereditary Spastic Paraplegia: gene sequencing panel Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics Hereditary Spastic Paraplegia: gene sequencing panel that also includes the following genes: RTN2 SLC16A2 ATL1 SPAST ERLIN2 BSCL2 NIPA1 GJC2 SPART GBA2
More info about this panelSpastic Paraplegia 8: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the WASHC5 gene.
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