SRC gene related symptoms and diseases

All the information presented here about the SRC 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.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to SRC gene

Symptoms // Phenotype	% Cases
Neoplasm	Uncommon - Between 30% and 50% cases
Abnormal facial shape	Uncommon - Between 30% and 50% cases
Abnormal platelet morphology	Uncommon - Between 30% and 50% cases
Spontaneous, recurrent epistaxis	Uncommon - Between 30% and 50% cases
Myelofibrosis	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

Patients with SRC gene alterations may also develop some of the following symptoms and phenotypes:

Not very common - Between 30% and 50% cases
Large forehead
Petechiae
Menorrhagia
Epistaxis
Hypotelorism
Deeply set eye
Osteoporosis
Thrombocytopenia

And 15 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to SRC gene

Here you will find a list of rare diseases related to the SRC. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

COLORECTAL CANCER; CRC

Alternate names

COLORECTAL CANCER; CRC Is also known as colon cancer

Description

Colorectal cancer is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases (review by Schweiger et al., 2013). Genetic Heterogeneity of Colorectal CancerMutations in a single gene result in a marked predisposition to colorectal cancer in 2 distinct syndromes: familial adenomatous polyposis (FAP ) and hereditary nonpolyposis colorectal cancer (HNPCC; see {120435}). FAP is caused by mutations in the APC gene (OMIM ), whereas HNPCC is caused by mutations in several genes, including MSH2 (OMIM ), MLH1 (OMIM ), PMS1 (OMIM ), PMS2 (OMIM ), MSH6 (OMIM ), TGFBR2 (OMIM ), and MLH3 (OMIM ). Epigenetic silencing of MSH2 results in a form of HNPCC (see HNPCC8, {613244}). Other colorectal cancer syndromes include autosomal recessive adenomatous polyposis (OMIM ), which is caused by mutations in the MUTYH gene (OMIM ), and oligodontia-colorectal cancer syndrome (OMIM ), which is caused by mutations in the AXIN2 gene (OMIM ).The CHEK2 gene (OMIM ) has been implicated in susceptibility to colorectal cancer in Finnish patients. A germline mutation in the PLA2G2A gene (OMIM ) was identified in a patient with colorectal cancer.Germline susceptibility loci for colorectal cancer have also been identified. CRCS1 (OMIM ) is conferred by mutation in the GALNT12 gene (OMIM ) on chromosome 9q22; CRCS2 (OMIM ) maps to chromosome 8q24; CRCS3 (OMIM ) is conferred by variation in the SMAD7 gene (OMIM ) on chromosome 18; CRCS4 (OMIM ) is conferred by variation on 15q that causes increased and ectopic expression of the GREM1 gene (OMIM ); CRCS5 (OMIM ) maps to chromosome 10p14; CRCS6 (OMIM ) maps to chromosome 8q23; CRCS7 (OMIM ) maps to chromosome 11q23; CRCS8 (OMIM ) maps to chromosome 14q22; CRCS9 (OMIM ) maps to 16q22; CRCS10 (OMIM ) is conferred by mutation in the POLD1 gene (OMIM ) on chromosome 19q13; CRCS11 (OMIM ) maps to chromosome 20p12; and CRCS12 (OMIM ) is conferred by mutation in the POLE gene (OMIM ) on chromosome 12q24.Somatic mutations in many different genes, including KRAS (OMIM ), PIK3CA (OMIM ), BRAF (OMIM ), CTNNB1 (OMIM ), FGFR3 (OMIM ), AXIN2 (OMIM ), AKT1 (OMIM ), MCC (OMIM ), MYH11 (OMIM ), PARK2 (OMIM ), and RNF43 (OMIM ), have been identified in colorectal cancer.

Most common symptoms of COLORECTAL CANCER; CRC

Neoplasm
Carcinoma
Oligodontia
Colon cancer
Colitis

More info about COLORECTAL CANCER; CRC

SOURCES: OMIM

HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS

Alternate names

HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS Is also known as thrombocytopenia, autosomal dominant, 6

Description

Thrombocytopenia-6 is an autosomal dominant hematologic disorder characterized by increased bleeding episodes due to reduced platelet count and abnormal platelet morphology resulting from defective megakaryopoiesis. Patients may also have bone abnormalities, including osteoporosis or tooth loss, as well as an increased risk for myelofibrosis (summary by Turro et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of thrombocytopenia, see {313900}.

Most common symptoms of HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS

Abnormal facial shape
Thrombocytopenia
Osteoporosis
Deeply set eye
Hypotelorism

More info about HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS

SOURCES: ORPHANET OMIM

Search interest in SRC

Potential gene panels for SRC gene

Thrombocytopenia Sequencing Panel Panel

United States.

By Genetic Services Laboratory University of Chicago Thrombocytopenia Sequencing Panel that also includes the following genes: CFB SRC TERC TERT THBD VWF WAS C3 ADAMTS13 ABCG5

SRC gene related symptoms and diseases

Top 5 symptoms and clinical features associated to SRC gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to SRC gene

COLORECTAL CANCER; CRC

Alternate names

Description

Most common symptoms of COLORECTAL CANCER; CRC

HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS

Alternate names

Description

Most common symptoms of HEREDITARY THROMBOCYTOPENIA WITH EARLY-ONSET MYELOFIBROSIS

Search interest in SRC

Potential gene panels for SRC gene

Thrombocytopenia Sequencing Panel Panel

Thrombocytopenia Deletion/Duplication Panel Panel

Thrombocytopenia NGS Panel Panel

Thrombocytopenia Deletion / Duplication Panel Panel

Thrombocytopenia Comprehensive Panel Panel

Cancer Hotspot Panel Panel

NOONAN, LEOPARD, COSTELLO and CARDIOFACIOCUTANEOUS SYNDROME Panel

Thrombocytopenia Panel Panel

Bleeding Disorder/Coagulopathy Panel Panel

Comprehensive Hematology Panel Panel

FoundationOne® Heme Panel

Comprehensive Panel for Individualized Cancer Threatment Panel

Cancer Hotspot Analysis Panel

Circulo Colorectal Panel

NeoTYPE® Discovery Profile for Solid Tumors Panel

Caris MI TumorSeek 592-Gene NGS Panel Panel

OmniSeq Comprehensive Panel

Providence Personalized Medicine Panel - Solid Tumor Panel

Thrombocytopenia and Related Disorders , Panel Massive Sequencing (NGS) 14 Genes Panel

152 Integrated Advantage NGS Solid Tumor Panel Panel

Tempus xT assay Panel

Tempus xO assay Panel

CEN4GEN Comprehensive targeted oncogene tumor mutation screen (somatic genetic testing): Sequencing Panel Panel

PrimBio Cancer HotSpot Panel Panel