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.
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
FEVER-ASSOCIATED ACUTE INFANTILE LIVER FAILURE SYNDROME
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
Search interest in NBAS
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 United States.
NBAS Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the NBAS gene.
More info about this panel Germany.
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 United States.
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 United States.
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 United States.
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 United States.
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 Germany.
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 Germany.
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 Germany.
NBAS Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the NBAS gene.
More info about this panel United States.
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 Finland.
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 Finland.
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