REST gene related symptoms and diseases
All the information presented here about the REST gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,OMIM,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to REST gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Overgrowth | Common - Between 50% and 80% cases |
| Gingival overgrowth | Uncommon - Between 30% and 50% cases |
| Gingival fibromatosis | Uncommon - Between 30% and 50% cases |
| Nephroblastoma | Uncommon - Between 30% and 50% cases |
| Short stature | Rare - less than 30% cases |
Other less frequent symptoms and clinical features
Patients with REST gene alterations may also develop some of the following symptoms and phenotypes:Rarely - Less than 30% cases
- Renal insufficiency
- Hemihypertrophy
- Renal neoplasm
- Male pseudohermaphroditism
- Neoplasm of the lung
- Aniridia
- Gonadal dysgenesis
- Hematuria
And 17 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to REST gene
Here you will find a list of rare diseases related to the REST. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
FIBROMATOSIS, GINGIVAL, 5; GINGF5
Alternate names
FIBROMATOSIS, GINGIVAL, 5; GINGF5 Is also known as ggf5, hgf5, fibromatosis, gingival, hereditary, 5
Description
Gingival fibromatosis-5 is an autosomal dominant benign overgrowth disorder characterized by slowly progressive fibrous enlargement of the keratinized gingival tissues. Affected individuals may have diastema, malposition of the teeth, and prolonged retention of primary teeth. Onset is in the first decade. Treatment by surgical resection is generally followed by regrowth of the gingival tissues (summary by Pehlivan et al., 2009).
Most common symptoms of FIBROMATOSIS, GINGIVAL, 5; GINGF5
- Short stature
- Hernia
- Osteoporosis
- Respiratory tract infection
- Overgrowth
More info about FIBROMATOSIS, GINGIVAL, 5; GINGF5
SOURCES: OMIM
HEREDITARY GINGIVAL FIBROMATOSIS
Alternate names
HEREDITARY GINGIVAL FIBROMATOSIS Is also known as autosomal dominant gingival fibromatosis, ggf1, autosomal dominant gingival hyperplasia, gingf, hereditary gingival hyperplasia, fibromatosis, gingival, hereditary, hgf
Description
Hereditary gingival fibromatosis (HGF) is a rare benign, slowly progressive, non-inflammatory fibrous hyperplasia of the maxillary and mandibular gingivae that generally occurs with the eruption of the permanent (or more rarely the primary) dentition or even at birth. It presents as a localized or generalized, smooth or nodular overgrowth of the gingival tissues of varying severity. It can be isolated, with autosomal dominant inheritance, or as part of a syndrome.
Most common symptoms of HEREDITARY GINGIVAL FIBROMATOSIS
- Overgrowth
- Hypertrichosis
- Gingival overgrowth
- Gingival fibromatosis
More info about HEREDITARY GINGIVAL FIBROMATOSIS
NEPHROBLASTOMA
Alternate names
NEPHROBLASTOMA Is also known as wilms tumor, nephroblastoma, renal embryonic tumor
Description
Nephroblastoma is the most frequent malignant renal tumor in children and is associated with an abnormal proliferation of cells that resemble the kidney cells of an embryo (metanephroma), leading to the term embryonal tumor.
Most common symptoms of NEPHROBLASTOMA
- Intellectual disability
- Neoplasm
- Hypertension
- Fever
- Renal insufficiency
More info about NEPHROBLASTOMA
WILMS TUMOR 6; WT6
Alternate names
WILMS TUMOR 6; WT6 Is also known as wilms tumor, susceptibility to
Most common symptoms of WILMS TUMOR 6; WT6
- Nephroblastoma
More info about WILMS TUMOR 6; WT6
SOURCES: OMIM
Search interest in REST
Potential gene panels for REST gene
Cancer Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Cancer Sequencing Panel with CNV Detection that also includes the following genes: RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRCA1 BRCA2 SMARCA4
More info about this panel United States.
REST Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the REST gene.
More info about this panel United States.
Hereditary Pediatric Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Pediatric Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Comprehensive Hereditary Cancer Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hereditary Cancer Panel that also includes the following genes: RIT1 RRAS RUNX1 BLM SDHA SDHB SDHC SDHD BMPR1A BRAF
More info about this panel Finland.
Hereditary Renal Cancer Panel Panel
Finland.
By Blueprint Genetics Hereditary Renal Cancer Panel that also includes the following genes: SDHB SDHC SDHD SMARCA4 SMARCB1 EPCAM TP53 TSC1 TSC2 VHL
More info about this panel Finland.
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