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.

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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

SOURCES: OMIM ORPHANET

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


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

SKIV2L Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the SKIV2L gene.

More info about this panel

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

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

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

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

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

Trichohepatoenteric syndrome 2 Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the SKIV2L gene.

More info about this panel

SKIV2L Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the SKIV2L gene.

More info about this panel

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

Trichohepatoenteric syndrome 2 Panel

Spain.

By Bioarray

This panel specifically test the SKIV2L gene.

More info about this panel

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

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

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


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