NANS gene related symptoms and diseases

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

Top 5 symptoms and clinical features associated to NANS gene

Symptoms // Phenotype % Cases
Intellectual disability Very Common - Between 80% and 100% cases
Spondyloepiphyseal dysplasia Very Common - Between 80% and 100% cases
Flat face Very Common - Between 80% and 100% cases
Wide nose Very Common - Between 80% and 100% cases
Hirsutism Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

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

  • Thick vermilion border
  • Abnormality of the skin
  • Low posterior hairline
  • Thick lower lip vermilion
  • Low anterior hairline
  • Infantile muscular hypotonia
  • Metaphyseal irregularity
  • Flared metaphysis

And 41 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NANS gene

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


SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE


Alternate names

SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE Is also known as nans deficiency, semd, genevieve type, semdg, semd, geneviÈve type

Description

Spondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.

Most common symptoms of SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


More info about SPONDYLOEPIMETAPHYSEAL DYSPLASIA, GENEVIÈVE TYPE

SOURCES: OMIM ORPHANET MESH


Potential gene panels for NANS gene

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

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

NANS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NANS gene.

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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