TTC37 gene related symptoms and diseases
All the information presented here about the TTC37 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TTC37 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Very Common - Between 80% and 100% cases |
| Hepatic fibrosis | Very Common - Between 80% and 100% cases |
| Curly hair | Very Common - Between 80% and 100% cases |
| Abnormality of the immune system | Very Common - Between 80% and 100% cases |
| Brittle hair | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with TTC37 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Hypoalbuminemia
- Recurrent upper respiratory tract infections
- Leukopenia
- Aortic regurgitation
- Abnormality of the hair
- Chronic diarrhea
- Underdeveloped supraorbital ridges
- Depressed nasal ridge
And 74 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TTC37 gene
Here you will find a list of rare diseases related to the TTC37. 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
Search interest in TTC37
Potential gene panels for TTC37 gene
TTC37 Deletion/duplication analysis 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 TTC37 gene.
More info about this panel United States.
TTC37 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 TTC37 gene.
More info about this panel United States.
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.
Phenotypic diarrhea (sequence analysis of TTC37 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the TTC37 gene.
More info about this panel Portugal.
Trichohepatoenteric syndrome 1 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the TTC37 gene.
More info about this panel Germany.
Early Onset Inflammatory Bowel Disease: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Sequencing Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
Pan-Ethnic Carrier Screen: Gene Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Pan-Ethnic Carrier Screen: Gene Sequencing Panel that also includes the following genes: RMRP BCS1L RS1 SACS BLM SGCA SGCB SGCG SGSH SLC12A6
More info about this panel United States.
Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Early Onset Inflammatory Bowel Disease: Deletion/Duplication Panel that also includes the following genes: SH2D1A BTK STXBP2 CD40LG WAS AICDA HPS4 LRBA DCLRE1C HPS6
More info about this panel United States.
Intellectual Disability NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panel United States.
TTC37 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TTC37 gene.
More info about this panel United States.
Cholestasis Panel Panel
Finland.
By Blueprint Genetics Cholestasis Panel that also includes the following genes: SLC25A13 SMPD1 SPINT2 EPCAM TJP2 UGT1A1 VPS33B NEUROG3 LMF1 NPC2
More info about this panel Finland.
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.
Tricho-hepato-enteric syndrome Panel
Spain.
By Bioarray
This panel specifically test the TTC37 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 1 , Sequencing TTC37 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the TTC37 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.
Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics Pan-Ethnic Carrier Screen: Full Gene Sequencing and SMA Analysis that also includes the following genes: RMRP BCS1L SACS BLM SGCA SGCB SGCG SGSH SLC12A6 SLC17A5
More info about this panel Canada.
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