RAB33B gene related symptoms and diseases

All the information presented here about the RAB33B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,ORPHANET,HGNC, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to RAB33B gene

Symptoms // Phenotype % Cases
Disproportionate short-trunk short stature Very Common - Between 80% and 100% cases
Limb undergrowth Very Common - Between 80% and 100% cases
Atlantoaxial instability Very Common - Between 80% and 100% cases
Barrel-shaped chest Very Common - Between 80% and 100% cases
Hypoplasia of the odontoid process Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with RAB33B gene alterations may also develop some of the following symptoms and phenotypes:
  • Commonly - More than 50% cases

  • Short phalanx of finger
  • Metaphyseal irregularity
  • Short metacarpal
  • Genu valgum
  • Platyspondyly
  • Kyphosis
  • Not very common - Between 30% and 50% cases

  • Pes planus
  • Joint laxity

And 48 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to RAB33B gene

Here you will find a list of rare diseases related to the RAB33B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


SMITH-MCCORT DYSPLASIA


Alternate names

SMITH-MCCORT DYSPLASIA Is also known as smc

Description

Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.

Most common symptoms of SMITH-MCCORT DYSPLASIA

  • Microcephaly
  • Scoliosis
  • Kyphosis
  • Dolichocephaly
  • Platyspondyly


More info about SMITH-MCCORT DYSPLASIA

SOURCES: ORPHANET OMIM

SMITH-MCCORT DYSPLASIA 2; SMC2


Description

Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC ), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013).For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (OMIM ).

Most common symptoms of SMITH-MCCORT DYSPLASIA 2; SMC2

  • Intellectual disability
  • Short stature
  • Pain
  • Brachydactyly
  • Myopia


More info about SMITH-MCCORT DYSPLASIA 2; SMC2

SOURCES: OMIM


Potential gene panels for RAB33B gene

Smith-McCort Dysplasia Panel

United States.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children

This panel specifically test the RAB33B gene.

More info about this panel

Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4

More info about this panel

Dyggve-Melchior-Clausen disease Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Dyggve-Melchior-Clausen disease Deletion / Duplication panel that also includes the following genes: RAB33B DYM

More info about this panel

Dyggve-Melchior-Clausen disease Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Dyggve-Melchior-Clausen disease Comprehensive panel that also includes the following genes: RAB33B DYM

More info about this panel

Dyggve-Melchior-Clausen disease NGS panel Panel

United States.

By Connective Tissue Gene Tests Dyggve-Melchior-Clausen disease NGS panel that also includes the following genes: RAB33B DYM

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Smith-McCort dysplasia Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Smith-McCort dysplasia Comprehensive panel that also includes the following genes: RAB33B DYM

More info about this panel

Smith-McCort dysplasia NGS panel Panel

United States.

By Connective Tissue Gene Tests Smith-McCort dysplasia NGS panel that also includes the following genes: RAB33B DYM

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias Comprehensive panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Spondylo-Epi-Metaphyseal dysplasias NGS panel Panel

United States.

By Connective Tissue Gene Tests Spondylo-Epi-Metaphyseal dysplasias NGS panel that also includes the following genes: RMRP BGN RUNX2 SLC26A2 SMARCAL1 ACP5 CFAP410 CCN6 XYLT1 RAB33B

More info about this panel

Smith-McCort dysplasia Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Smith-McCort dysplasia Deletion / Duplication panel that also includes the following genes: RAB33B DYM

More info about this panel

Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel Panel

Germany.

By CeGaT GmbH Spondylometaphyseal dysplasia and Spondylo-epi-(meta)-physeal dysplasia Panel that also includes the following genes: RMRP SMARCAL1 ACP5 CCN6 XYLT1 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

RAB33B Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the RAB33B gene.

More info about this panel

Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel Panel

Finland.

By Blueprint Genetics Spondylometaphyseal / Spondyloepi-(meta)-physeal Dysplasia Panel that also includes the following genes: RMRP BGN SMARCAL1 ACP5 CCN6 RAB33B B3GALT6 TRPV4 CHST3 CANT1

More info about this panel

Comprehensive Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX

More info about this panel

Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel

Finland.

By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D

More info about this panel


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