NBAS gene related symptoms and diseases

All the information presented here about the NBAS 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 NBAS gene

Symptoms // Phenotype % Cases
Short stature Uncommon - Between 30% and 50% cases
Cardiomyopathy Uncommon - Between 30% and 50% cases
Fine hair Uncommon - Between 30% and 50% cases
Sandal gap Uncommon - Between 30% and 50% cases
Cutis laxa Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with NBAS gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Dyschromatopsia
  • Achromatopsia
  • Prominent glabella
  • Blue cone monochromacy
  • Hyposegmentation of neutrophil nuclei
  • Nonprogressive visual loss
  • Seizures
  • Vomiting

And 39 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to NBAS gene

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


SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME


Alternate names

SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME Is also known as soph syndrome

Description

Among the Yakuts, an Asian population isolate that is located in the northeastern part of Siberia, Maksimova et al. (2010) ascertained a short stature syndrome involving autosomal recessive postnatal growth failure, small hands and feet, loss of visual acuity with abnormalities of color vision, abnormal nuclear shape in neutrophil granulocytes (Pelger-Huet anomaly; see {169400}), and normal intelligence.

Most common symptoms of SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

  • Short stature
  • Generalized hypotonia
  • Growth delay
  • Hypertelorism
  • Strabismus


More info about SHORT STATURE-OPTIC ATROPHY-PELGER-HUËT ANOMALY SYNDROME

SOURCES: OMIM ORPHANET

FEVER-ASSOCIATED ACUTE INFANTILE LIVER FAILURE SYNDROME



More info about FEVER-ASSOCIATED ACUTE INFANTILE LIVER FAILURE SYNDROME

SOURCES: ORPHANET

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY


Alternate names

SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY Is also known as interstitial lung and liver disease, pap, reunion island type, pulmonary alveolar proteinosis, reunion island type, hereditary pulmonary alveolar proteinosis with hepatic involvement

Description

Infantile liver failure syndrome-2 is an autosomal recessive disorder characterized by recurrent episodes of acute liver failure during intercurrent febrile illness. Patients first present in infancy or early childhood, and there is complete recovery between episodes with conservative treatment (summary by Haack et al., 2015).For a discussion of genetic heterogeneity of infantile liver failure syndrome, see ILFS1 (OMIM ).

Most common symptoms of SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

  • Seizures
  • Cardiomyopathy
  • Vomiting
  • Encephalopathy
  • Jaundice


More info about SEVERE EARLY-ONSET PULMONARY ALVEOLAR PROTEINOSIS DUE TO MARS DEFICIENCY

SOURCES: ORPHANET OMIM


Potential gene panels for NBAS gene

Osteogenesis Imperfecta and Genetic Bone Disorders Panel Panel

United States.

By Collagen Diagnostic Laboratory University of Washington Osteogenesis Imperfecta and Genetic Bone Disorders Panel that also includes the following genes: BMP1 SEC24D SPARC TNFRSF11B WNT1 MBTPS2 SERPINH1 XYLT2 NBAS IFITM5

More info about this panel

NBAS Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the NBAS gene.

More info about this panel

Infantile Liver Failure Syndrome Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Infantile Liver Failure Syndrome Sequencing Panel with CNV Detection that also includes the following genes: NBAS LARS

More info about this panel

Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta and Hypophosphatasia (HPP) Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Osteogenesis Imperfecta, Hypophosphatasia (HPP), and Inherited Hypophosphatemic Rickets Sequencing Panel with CNV Detection that also includes the following genes: SCN9A BMP1 SEC24D SLC2A2 SPARC WNT1 MBTPS2 SERPINH1 XYLT2 NBAS

More info about this panel

NBAS-Related Disorders via NBAS Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the NBAS gene.

More info about this panel

Neurogenetic Disorders - panels Panel

Germany.

By MGZ Medical Genetics Center Neurogenetic Disorders - panels that also includes the following genes: BCS1L RTN2 RYR1 SACS SCN1A SCN1B SCN2A SCN8A SCO1 SCO2

More info about this panel

Short stature, optic nerve atrophy, and Pelger-Huet anomaly Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NBAS gene.

More info about this panel

Infantile liver failure syndrome type 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the NBAS gene.

More info about this panel

NBAS Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the NBAS gene.

More info about this panel

Hyperammonemia and Urea Cycle Disorder Panel Panel

Finland.

By Blueprint Genetics Hyperammonemia and Urea Cycle Disorder Panel that also includes the following genes: SLC22A5 SLC25A13 SLC25A15 SLC7A7 SUCLA2 SUCLG1 UMPS SLC25A20 NBAS NAGS

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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