SRGAP1 gene related symptoms and diseases
All the information presented here about the SRGAP1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SRGAP1 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Neoplasm | Very Common - Between 80% and 100% cases |
| Abnormality of metabolism/homeostasis | Very Common - Between 80% and 100% cases |
| Carcinoma | Very Common - Between 80% and 100% cases |
| Medullary thyroid carcinoma | Very Common - Between 80% and 100% cases |
| Follicular thyroid carcinoma | Very Common - Between 80% and 100% cases |
Other less frequent symptoms and clinical features
Patients with SRGAP1 gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Non-medullary thyroid carcinoma
Rare diseases associated to SRGAP1 gene
Here you will find a list of rare diseases related to the SRGAP1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THYROID CANCER, NONMEDULLARY, 2; NMTC2
Description
Nonmedullary thyroid cancer (NMTC) comprises thyroid cancers of follicular cell origin and accounts for more than 95% of all thyroid cancer cases. The remaining cancers originate from parafollicular cells (medullary thyroid cancer, MTC; {155240}). NMTC is classified into 4 groups: papillary, follicular, Hurthle cell (OMIM ), and anaplastic. Approximately 5% of NMTC is hereditary, occurring as a minor component of a familial cancer syndrome (e.g., familial adenomatous polyposis, {175100}, Carney complex, {160980}) or as a primary feature (familial NMTC or FNMTC). Papillary thyroid cancer (PTC) is the most common histologic subtype of FNMTC, accounting for approximately 85% of cases (summary by Vriens et al., 2009).Follicular thyroid cancer (FTC) accounts for approximately 15% of NMTC and is defined by invasive features that result in infiltration of blood vessels and/or full penetration of the tumor capsule, in the absence of the nuclear alterations that characterize papillary carcinoma. FTC is rarely multifocal and usually does not metastasize to the regional lymph nodes but tends to spread via the bloodstream to the lung and bones. An important histologic variant of FTC is the oncocytic (Hurthle cell, oxyphilic) follicular carcinoma composed of eosinophilic cells replete with mitochondria (summary by Bonora et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (OMIM ).
Most common symptoms of THYROID CANCER, NONMEDULLARY, 2; NMTC2
- Neoplasm
- Abnormality of metabolism/homeostasis
- Carcinoma
- Medullary thyroid carcinoma
- Follicular thyroid carcinoma
More info about THYROID CANCER, NONMEDULLARY, 2; NMTC2
Search interest in SRGAP1
Potential gene panels for SRGAP1 gene
Hereditary Thyroid Cancer Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Thyroid Cancer Panel that also includes the following genes: SDHB SDHD TP53 WRN DICER1 SRGAP1 AKT1 APC PIK3CA PRKAR1A
More info about this panel United States.
Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Congenital Abnormalities of the Kidney and Urinary Tract (CAKUT) Sequencing Panel with CNV Detection that also includes the following genes: ROBO2 SALL1 BMP4 BMP7 SIX1 SIX2 SIX5 SOX11 TBX18 HNF1B
More info about this panel United States.
Thyroid cancer type 2, nonmedullary, susceptibility to Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SRGAP1 gene.
More info about this panel Germany.
SRGAP1 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SRGAP1 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
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