SC5D gene related symptoms and diseases
All the information presented here about the SC5D gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SC5D gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hyperbilirubinemia | Very Common - Between 80% and 100% cases |
| Biparietal narrowing | Very Common - Between 80% and 100% cases |
| Pathologic fracture | Very Common - Between 80% and 100% cases |
| Bilateral talipes equinovarus | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SC5D gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Portal hypertension
- Elevated alkaline phosphatase
- Arnold-Chiari malformation
- Opacification of the corneal stroma
- Horseshoe kidney
- Postaxial foot polydactyly
- Gingival overgrowth
- Cholestasis
And 68 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SC5D gene
Here you will find a list of rare diseases related to the SC5D. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
LATHOSTEROLOSIS
Alternate names
LATHOSTEROLOSIS Is also known as sc5d deficiency, sterol c5-desaturase deficiency
Description
Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease.
Most common symptoms of LATHOSTEROLOSIS
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
More info about LATHOSTEROLOSIS
Search interest in SC5D
Potential gene panels for SC5D gene
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lysosomal and peroxisomal diseases (NGS panel of 109 genes) Panel
Portugal.
By CGC Genetics Lysosomal and peroxisomal diseases (NGS panel of 109 genes) that also includes the following genes: SC5D SCP2 SGSH SHOX SLC17A5 SMPD1 TCIRG1 ACOX1 ACP2 MCOLN1
More info about this panel Portugal.
Lathosterolosis Panel
Netherlands.
By Laboratory Genetic Metabolic Diseases University of Amsterdam Academic Medical Center
This panel specifically test the SC5D gene.
More info about this panel Netherlands.
Mental retardation - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Mental retardation - different panels that also includes the following genes: RGS7 RIT1 RMRP BCS1L RPL10 RPS6KA3 RRAS SALL1 SC5D ATXN10
More info about this panel Germany.
SC5D Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SC5D gene.
More info about this panel United States.
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