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.

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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

SOURCES: ORPHANET OMIM


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

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

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

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

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

SETD5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SETD5 gene.

More info about this panel

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


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