COX7B gene related symptoms and diseases
All the information presented here about the COX7B gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,ORPHANET,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to COX7B gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Microphthalmia | Very Common - Between 80% and 100% cases |
| Abnormal facial shape | Very Common - Between 80% and 100% cases |
| Congenital diaphragmatic hernia | Very Common - Between 80% and 100% cases |
| Atrial septal defect | Very Common - Between 80% and 100% cases |
| Hernia | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with COX7B gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Aplasia cutis congenita
- Retrognathia
- Short stature
- Growth delay
- Microcephaly
- Global developmental delay
Not very common - Between 30% and 50% cases
- Functional motor deficit
- Periventricular leukomalacia
And 137 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to COX7B gene
Here you will find a list of rare diseases related to the COX7B. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
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 2; LSDMCA2
Alternate names
LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2 Is also known as aplcc, aplasia cutis congenita, reticulolinear, with microcephaly, facial dysmorphism, and other congenital anomalies
Most common symptoms of LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2
- Global developmental delay
- Short stature
- Microcephaly
- Growth delay
- Hypertelorism
More info about LINEAR SKIN DEFECTS WITH MULTIPLE CONGENITAL ANOMALIES 2; LSDMCA2
SOURCES: OMIM
Search interest in COX7B
Potential gene panels for COX7B 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.
Nuclear encoded Mitochondriopathies Panel Panel
Germany.
By CeGaT GmbH Nuclear encoded Mitochondriopathies Panel that also includes the following genes: RMRP BCS1L MRPL3 SACS SCO1 SCO2 SDHA SDHB SDHC SDHD
More info about this panel Germany.
Developmental Eye Disease panel Panel
United States.
By Molecular Vision Laboratory Developmental Eye Disease panel that also includes the following genes: BMP4 SHH SIX3 SIX6 SLC25A1 SNX3 SOX2 SOX3 ELP4 VAX1
More info about this panel United States.
COX7B Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the COX7B gene.
More info about this panel United States.
X-chromosome High Resolution microarray analysis Panel
United States.
By Pittsburgh Cytogenetics Laboratory University of Pittsburgh Medical Center X-chromosome High Resolution microarray analysis that also includes the following genes: RP2 RPGR RPL10 RPS6KA3 RS1 SAT1 SH2D1A SHOX SLC16A2 SLC35A2
More info about this panel United States.
Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel Panel
Finland.
By Blueprint Genetics Microphthalmia, Anophthalmia and Anterior Segment Dysgenesis Panel that also includes the following genes: BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2 TFAP2A ZIC2 PXDN
More info about this panel Finland.
ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ANOPHTHALMIA/ MICROPHTALMIA: NGS PANEL that also includes the following genes: SALL1 SALL2 BMP4 SHH SIX6 SOX2 PXDN MFRP RAX NAA10
More info about this panel Spain.
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