RNF113A gene related symptoms and diseases
All the information presented here about the RNF113A gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,NCBIGENE,OMIM,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to RNF113A gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Intellectual disability | Uncommon - Between 30% and 50% cases |
| Cutaneous photosensitivity | Uncommon - Between 30% and 50% cases |
| Widely spaced primary teeth | Uncommon - Between 30% and 50% cases |
| Microphallus | Uncommon - Between 30% and 50% cases |
| Slow-growing hair | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with RNF113A gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Panhypopituitarism
- Progeroid facial appearance
- Global brain atrophy
- Cutis marmorata
- Brittle hair
- Optic nerve hypoplasia
- Progressive microcephaly
- Chronic diarrhea
And 18 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to RNF113A gene
Here you will find a list of rare diseases related to the RNF113A. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
TRICHOTHIODYSTROPHY
Description
Trichothiodystrophy or TTD is a heterogeneous group disorders characterized by short, brittle hair with low-sulphur content (due to an abnormal synthesis of the sulphur containing keratins).
More info about TRICHOTHIODYSTROPHY
SOURCES: ORPHANET
TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5
Most common symptoms of TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5
- Intellectual disability
- Short stature
- Microcephaly
- Growth delay
- Intrauterine growth retardation
More info about TRICHOTHIODYSTROPHY 5, NONPHOTOSENSITIVE; TTD5
SOURCES: OMIM
Search interest in RNF113A
Potential gene panels for RNF113A gene
Trichothiodystrophy (NGS panel of 5 genes) Panel
Portugal.
By CGC Genetics Trichothiodystrophy (NGS panel of 5 genes) that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3
More info about this panel Portugal.
X-Linked Intellectual Disability Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics X-Linked Intellectual Disability Sequencing Panel with CNV Detection that also includes the following genes: RPL10 RPS6KA3 SLC16A2 SLC35A2 SLC6A8 SLC7A3 SLC9A6 SMC1A KDM5C SMS
More info about this panel United States.
Nonphotosensitive Trichothiodystrophy 5 (X-linked Intellectual Disability) via RNF113A Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the RNF113A gene.
More info about this panel United States.
Trichothiodystrophy NGS panel Panel
United States.
By Connective Tissue Gene Tests Trichothiodystrophy NGS panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2
More info about this panel United States.
Trichothiodystrophy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Trichothiodystrophy Comprehensive panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2
More info about this panel United States.
Trichothiodystrophy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Trichothiodystrophy Deletion / Duplication panel that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3 GTF2E2
More info about this panel United States.
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.
Trichothiodystrophy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Trichothiodystrophy that also includes the following genes: RNF113A MPLKIP GTF2H5 NUPR1 ERCC2 ERCC3
More info about this panel Spain.
RNF113A Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the RNF113A gene.
More info about this panel United States.
Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes Panel
Spain.
By Reference Laboratory Genetics Trichothiodystrophy , Panel Massive Sequencing (NGS) 5 Genes that also includes the following genes: RNF113A MPLKIP GTF2H5 ERCC2 ERCC3
More info about this panel Spain.
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