SETD5 gene related symptoms and diseases
All the information presented here about the SETD5 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SETD5 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Obsessive-compulsive behavior | Very Common - Between 80% and 100% cases |
| Anteverted nares | Very Common - Between 80% and 100% cases |
| Long philtrum | Very Common - Between 80% and 100% cases |
| Autism | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SETD5 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Myopia
- Depressed nasal bridge
- Downturned corners of mouth
- Hypospadias
- Cryptorchidism
- Seizures
- Low anterior hairline
- Strabismus
And 105 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SETD5 gene
Here you will find a list of rare diseases related to the SETD5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
CORNELIA DE LANGE SYNDROME
Alternate names
CORNELIA DE LANGE SYNDROME Is also known as brachmann-de lange syndrome
Description
Cornelia de Lange syndrome (CdLS) is a multisystem disorder with variable expression marked by a characteristic facial dysmorphism, variable degrees of intellectual deficit, severe growth retardation beginning before birth (2nd trimester), abnormal hands and feet (oligodactyly, or sometimes an even more severe amputation, and constant brachymetacarpia of the first metacarpus), and various other malformations (heart, kidney etc.).
Most common symptoms of CORNELIA DE LANGE SYNDROME
- Intellectual disability
- Seizures
- Short stature
- Microcephaly
- Nystagmus
More info about CORNELIA DE LANGE SYNDROME
SOURCES: ORPHANET
INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY
Description
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated.
Most common symptoms of INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Microcephaly
- Scoliosis
More info about INTELLECTUAL DISABILITY-FACIAL DYSMORPHISM SYNDROME DUE TO SETD5 HAPLOINSUFFICIENCY
Search interest in SETD5
Potential gene panels for SETD5 gene
Non-Specific Intellectual Disability Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Non-Specific Intellectual Disability Panel that also includes the following genes: RPS6KA3 CLIP1 SCN2A ST3GAL3 SLC16A2 SLC25A1 SLC6A8 SLC9A6 SMARCA4 SMARCB1
More info about this panel United States.
Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Non-syndromic Intellectual Disability (NS-ID) Sequencing Panel with CNV Detection that also includes the following genes: BDNF RPS6KA3 SCN2A SCN8A SLC16A2 SLC2A1 SLC6A8 SLC9A6 SMC1A KDM5C
More info about this panel United States.
Autism Spectrum Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autism Spectrum Disorders Sequencing Panel with CNV Detection that also includes the following genes: SCN1A SCN2A SGSH BRAF SLC6A1 SLC9A6 SPAST CDKL5 STXBP1 SYN2
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.
Mental retardation, autosomal dominant type 23 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SETD5 gene.
More info about this panel Germany.
SETD5 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SETD5 gene.
More info about this panel United States.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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