SKIV2L gene related symptoms and diseases
All the information presented here about the SKIV2L gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,ORPHANET,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SKIV2L gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Sparse hair | Very Common - Between 80% and 100% cases |
| Wide nasal bridge | Very Common - Between 80% and 100% cases |
| Cirrhosis | Very Common - Between 80% and 100% cases |
| Wide nose | Very Common - Between 80% and 100% cases |
| Immunodeficiency | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SKIV2L gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Woolly hair
- Diarrhea
- Abnormality of the liver
- Small for gestational age
- Trichorrhexis nodosa
- Villous atrophy
- Intrauterine growth retardation
- Hepatomegaly
And 83 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SKIV2L gene
Here you will find a list of rare diseases related to the SKIV2L. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SYNDROMIC DIARRHEA
Alternate names
SYNDROMIC DIARRHEA Is also known as trichohepatoenteric syndrome, tricho-hepato-enteric syndrome, diarrhea, fatal infantile, with trichorrhexis nodosa, sd/the, the syndrome, phenotypic diarrhea, diarrhea, syndromic, syndromic diarrhea/tricho-hepato-enteric syndrome
Description
Syndromic diarrhea (SD), or tricho-hepato-enteric syndrome (THE), is a severe congenital enteropathy manifesting as intractable diarrhea in the first month of life with failure to thrive and associated with facial dysmorphism, hair abnormalities, and, in some cases, immune disorders and intrauterine growth restriction.
Most common symptoms of SYNDROMIC DIARRHEA
- Intellectual disability
- Global developmental delay
- Short stature
- Growth delay
- Hypertelorism
More info about SYNDROMIC DIARRHEA
TRICHOHEPATOENTERIC SYNDROME 2; THES2
Description
Trichohepatoenteric syndrome (THES) is a rare and severe disease characterized by intrauterine growth retardation, facial dysmorphism, hair abnormalities, intractable diarrhea, and immunodeficiency (summary by Fabre et al., 2012).For a discussion of genetic heterogeneity of trichohepatoenteric syndrome, see THES1 (OMIM ).
Most common symptoms of TRICHOHEPATOENTERIC SYNDROME 2; THES2
- Growth delay
- Hypertelorism
- Failure to thrive
- Abnormal facial shape
- Anemia
More info about TRICHOHEPATOENTERIC SYNDROME 2; THES2
SOURCES: OMIM
Search interest in SKIV2L
Potential gene panels for SKIV2L gene
SKIV2L Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the SKIV2L gene.
More info about this panel United States.
SKIV2L Panel
Germany.
By Institute for Human Genetics University Clinic Freiburg
This panel specifically test the SKIV2L gene.
More info about this panel Germany.
SKIV2L. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the SKIV2L gene.
More info about this panel Spain.
Congenital Diarrhea Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq Analysis that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Congenital Diarrhea Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Congenital Diarrhea Seq + Del/Dup Panel that also includes the following genes: SAR1B SI SKIV2L SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3 CFTR
More info about this panel United States.
Trichohepatoenteric syndrome 2 (sequence analysis of SKIV2L gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SKIV2L gene.
More info about this panel Portugal.
Trichohepatoenteric syndrome 2 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SKIV2L gene.
More info about this panel Germany.
SKIV2L Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SKIV2L gene.
More info about this panel United States.
Congenital Diarrhea Panel Panel
Finland.
By Blueprint Genetics Congenital Diarrhea Panel that also includes the following genes: SAR1B SI SKIV2L SLC10A2 SLC5A1 SLC9A3 SPINT2 STX3 EPCAM NEUROG3
More info about this panel Finland.
Trichohepatoenteric syndrome 2 Panel
Spain.
By Bioarray
This panel specifically test the SKIV2L gene.
More info about this panel Spain.
TRICHO-HEPATO-ENTERIC SYNDROME/SYNDROMIC DIARRHEA Panel
Spain.
By Laboratorio de Genetica Clinica SL TRICHO-HEPATO-ENTERIC SYNDROME/SYNDROMIC DIARRHEA that also includes the following genes: SKIV2L TTC37
More info about this panel Spain.
Trichohepatoenteric Syndrome Type 2 , Sequencing SKIV2L Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SKIV2L gene.
More info about this panel Spain.
Trichohepatoenteric Syndrome ,Panel Massive Sequencing SKIV2L2,TTC37 Genes Panel
Spain.
By Reference Laboratory Genetics Trichohepatoenteric Syndrome ,Panel Massive Sequencing SKIV2L2,TTC37 Genes that also includes the following genes: SKIV2L TTC37
More info about this panel Spain.
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