SSR4 gene related symptoms and diseases

All the information presented here about the SSR4 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to SSR4 gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Gastroesophageal reflux Very Common - Between 80% and 100% cases
Abnormal glycosylation Very Common - Between 80% and 100% cases
Type I transferrin isoform profile Very Common - Between 80% and 100% cases
Abnormality of the gastrointestinal tract Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with SSR4 gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Abnormality of the periventricular white matter
  • Absent septum pellucidum
  • Abnormality of coagulation
  • Abnormality of the coagulation cascade
  • Widely spaced teeth
  • Joint dislocation
  • Horseshoe kidney
  • Abnormality of the cardiovascular system

And 21 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to SSR4 gene

Here you will find a list of rare diseases related to the SSR4. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SSR4-CDG


Alternate names

SSR4-CDG Is also known as cdg syndrome type iy, cdg iy, congenital disorder of glycosylation type 1y, carbohydrate deficient glycoprotein syndrome type iy, congenital disorder of glycosylation type iy, cdg-iy, cdgiy, cdg1y

Description

SSR4-CDG is a form of congenital disorders of N-linked glycosylation characterized by neurologic abnormalities (global developmental delay in language, social skills and fine and gross motor development, intellectual disability, hypotonia, microcephaly, seizures/epilepsy), facial dysmorphism (deep set eyes, large ears, hypoplastic vermillion of upper lip, large mouth with widely spaced teeth), feeding problems often due to chewing difficulties and aversion to food with certain textures, failure to thrive, gastrointestinal abnormalities (reflux or vomiting) and strabismus. The disease is caused by mutations in the gene SSR4 (Xq28).

Most common symptoms of SSR4-CDG

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


More info about SSR4-CDG

SOURCES: ORPHANET OMIM


Potential gene panels for SSR4 gene

Glycosylation disorder x-linked (sequence analysis of SSR4 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the SSR4 gene.

More info about this panel

Congenital disorders of glycosylation (NGS panel for 39 genes) Panel

Portugal.

By CGC Genetics Congenital disorders of glycosylation (NGS panel for 39 genes) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 COG4 COG6 COG7

More info about this panel

Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene) Panel

Portugal.

By CGC Genetics Osteopetrosis, autosomal recessive 2 (sequence analysis of TNFSF11 gene) that also includes the following genes: SSR4 NGLY1 STT3B STT3A

More info about this panel

X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS

More info about this panel

Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Congenital Disorders of Glycosylation Sequencing Panel with CNV Detection that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 TMEM199 ALG1 ATP6V0A2 COG4

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

Congenital Disorders of Glycosylation (CDG) Panel

Germany.

By MGZ Medical Genetics Center Congenital Disorders of Glycosylation (CDG) that also includes the following genes: SLC35A1 SLC35A2 SSR4 COG5 ALG9 ALG1 COG4 COG6 COG7 COG8

More info about this panel

Invitae Congenital Disorders of Glycosylation Panel Panel

United States.

By Invitae Invitae Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 TRIP11 COG5 ALG9 NGLY1 ALG1 ATP6V0A2

More info about this panel

SSR4 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SSR4 gene.

More info about this panel

Congenital Disorders of Glycosylation Panel Panel

Finland.

By Blueprint Genetics Congenital Disorders of Glycosylation Panel that also includes the following genes: SEC23B SLC35A1 SLC35A2 SSR4 COG5 ALG9 NGLY1 ALG1 ATP6V0A2 COG4

More info about this panel

Comprehensive Metabolism Panel Panel

Finland.

By Blueprint Genetics Comprehensive Metabolism Panel that also includes the following genes: BCS1L CNNM2 RYR1 CNNM4 SCN4A SEC23B SGSH SI SLC40A1 SLC12A3

More info about this panel


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