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  3. SOX5

SOX5 gene related symptoms and diseases

All the information presented here about the SOX5 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.

Table of contents:

Top 5 symptoms and clinical features associated to SOX5 gene

Symptoms // Phenotype % Cases
Narrow palate Common - Between 50% and 80% cases
Mitral regurgitation Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Exotropia Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with SOX5 gene alterations may also develop some of the following symptoms and phenotypes:

  • Commonly - More than 50% cases

  • Hyperplasia of the maxilla
  • Stereotypy
  • Thoracic kyphoscoliosis
  • Scoliosis
  • Strabismus
  • Dental crowding
  • Delayed speech and language development
  • Lumbar hyperlordosis

And 90 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SOX5 gene

Here you will find a list of rare diseases related to the SOX5. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


POLYCYSTIC OVARY SYNDROME 1; PCOS1

Alternate names

POLYCYSTIC OVARY SYNDROME 1; PCOS1 Is also known as pco, pco1, hyperandrogenemia, stein-leventhal syndrome, pcos

Description

a health problem that can affect a woman's menstrual cycle, fertility, hormones, insulin production, heart, blood vessels, and appearance

Most common symptoms of POLYCYSTIC OVARY SYNDROME 1; PCOS1

  • Neoplasm
  • Abnormality of metabolism/homeostasis
  • Obesity
  • Diabetes mellitus
  • Apnea


More info about POLYCYSTIC OVARY SYNDROME 1; PCOS1

SOURCES: OMIM MESH

LAMB-SHAFFER SYNDROME; LAMSHF

Description

Lamb-Shaffer syndrome is a neurodevelopmental disorder characterized by global developmental delay, intellectual disability, poor expressive speech, and mild dysmorphic facial features. Additional variable skeletal abnormalities may also be present (summary by Nesbitt et al., 2015).

Most common symptoms of LAMB-SHAFFER SYNDROME; LAMSHF

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis


More info about LAMB-SHAFFER SYNDROME; LAMSHF

SOURCES: OMIM

DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Description

Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Most common symptoms of DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

SOURCES: ORPHANET


Potential gene panels for SOX5 gene

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.

Autism NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Autism NGS Panel that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel
United States.

SOX5 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SOX5 gene.

More info about this panel
United States.

Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes Panel

Spain.

By Reference Laboratory Genetics Autism Spectrum Disorders (Expanded Panel) , Panel Massive Sequencing (NGS) 77 Genes that also includes the following genes: RPL10 BDNF SCN1A SCN2A BRAF SLC6A4 SLC9A6 SMC1A KDM5C SNRPN

More info about this panel
Spain.

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