NDUFB11 gene related symptoms and diseases
All the information presented here about the NDUFB11 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to NDUFB11 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Very Common - Between 80% and 100% cases |
| Global developmental delay | Very Common - Between 80% and 100% cases |
| Agenesis of corpus callosum | Very Common - Between 80% and 100% cases |
| Growth delay | Very Common - Between 80% and 100% cases |
| Failure to thrive | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with NDUFB11 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Cardiomyopathy
- Blindness
- Dilated cardiomyopathy
- Histiocytoid cardiomyopathy
- Congenital diaphragmatic hernia
- Respiratory distress
- Atrial septal defect
- Hernia
And 243 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to NDUFB11 gene
Here you will find a list of rare diseases related to the NDUFB11. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
ISOLATED COMPLEX I DEFICIENCY
Alternate names
ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency, nadh:q(1) oxidoreductase deficiency, isolated nadh-coq reductase deficiency, isolated mitochondrial respiratory chain complex i deficiency, isolated nadh-coenzyme q reductase deficiency, nadh-coenzyme q reductase
Description
Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).
Most common symptoms of ISOLATED COMPLEX I DEFICIENCY
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about ISOLATED COMPLEX I DEFICIENCY
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
Alternate names
MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME Is also known as mls, midas syndrome, microphthalmia, dermal aplasia, and sclerocornea, microphthalmia-dermal aplasia-sclerocornea syndrome, mcops7, microphthalmia with linear skin defects, syndromic microphthalmia type 7, mls syndrome, microphthalmia, syndromic 7
Description
MIDAS syndrome (Microphthalmia, Dermal Aplasia, and Sclerocornea), also called microphthalmia with linear skin defects syndrome, is characterized by ocular defects (microphthalmia, orbital cysts, corneal opacities) and linear skin dysplasia of the neck, head, and chin. It has been reported in less than 50 patients. Additional findings may include agenesis of corpus callosum, sclerocornea, chorioretinal abnormalities, hydrocephalus, seizures, intellectual deficit, and nail dystrophy. It is transmitted as an X-linked dominant trait with male lethality.
Most common symptoms of MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3
Alternate names
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3 Is also known as linear skin defects with cardiomyopathy and other congenital anomalies
Most common symptoms of LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3
- Seizures
- Global developmental delay
- Generalized hypotonia
- Growth delay
- Nystagmus
More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 3; LSDMCA3
SOURCES: OMIM
Search interest in NDUFB11
Potential gene panels for NDUFB11 gene
Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Mitochondrial Oxidative Phosphorylation Deficiency Sequencing Panel (Nuclear Genes Only) with CNV Detection that also includes the following genes: BCS1L MRPL12 MRPL3 SCO1 SCO2 SDHB SDHD SLC25A1 SLC25A3 SLC25A4
More info about this panel United States.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
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.
NGS Panel for Congenital and Acquired Sideroblastic Anemia Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Congenital and Acquired Sideroblastic Anemia that also includes the following genes: SF3B1 SLC19A2 PUS1 LARS2 TRNT1 GLRX5 NDUFB11 YARS2 STEAP3 SLC25A38
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ROBO1 ABL1 SGSH KCNQ1OT1 ARSA GNS EPHB4