HABP2 gene related symptoms and diseases
All the information presented here about the HABP2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: HGNC,OMIM,NCBIGENE,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to HABP2 gene
Symptoms // Phenotype | % Cases |
---|---|
Neoplasm | Common - Between 50% and 80% cases |
Goiter | Uncommon - Between 30% and 50% cases |
Neoplasm of head and neck | Uncommon - Between 30% and 50% cases |
Nodular goiter | Uncommon - Between 30% and 50% cases |
Papillary renal cell carcinoma | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with HABP2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Follicular thyroid carcinoma
- Abnormality of the lymph nodes
- Papillary thyroid carcinoma
- Chronic noninfectious lymphadenopathy
- Chronic lung disease
- Spinal cord compression
- Colon cancer
- Bone pain
And 13 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to HABP2 gene
Here you will find a list of rare diseases related to the HABP2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1
Alternate names
THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1 Is also known as thrombophilia due to factor 2 defect, venous thromboembolism, venous thrombosis
Description
Thrombophilia is a multifactorial disorder of inappropriate clot formation resulting from an interaction of genetic, acquired, and circumstantial predisposing factors. Venous thromboembolism most commonly manifests as deep vein thrombosis, which may progress to pulmonary embolism if the clot dislodges and travels to the lung. Other manifestations include thromboses of the cerebral or visceral veins and recurrent pregnancy loss (summary by Seligsohn and Lubetsky, 2001 and Varga and Kujovich, 2012).
Most common symptoms of THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1
- Neoplasm
- Gastrointestinal hemorrhage
- Venous thrombosis
- Thromboembolism
- Pulmonary embolism
More info about THROMBOPHILIA DUE TO THROMBIN DEFECT; THPH1
SOURCES: OMIM
THYROID CANCER, NONMEDULLARY, 5; NMTC5
Description
Nonmedullary thyroid cancer (NMTC) comprises cancer of follicular cell origin and accounts for more than 95% of all cases of thyroid cancer. Familial NMTC accounts for 3 to 9% of all cases of thyroid cancer and has an autosomal dominant mode of inheritance. Most cases of familial NMTC are papillary thyroid cancer (PTC), which is the most common type of thyroid cancer (summary by Gara et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of NMTC, see NMTC1 (OMIM ).
Most common symptoms of THYROID CANCER, NONMEDULLARY, 5; NMTC5
- Neoplasm
- Non-medullary thyroid carcinoma
More info about THYROID CANCER, NONMEDULLARY, 5; NMTC5
SOURCES: OMIM
FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA
Alternate names
FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA Is also known as fnmtc, familial pure nonmedullary thyroid carcinoma
Description
Familial papillary or follicular thyroid carcinoma is a rare, hereditary nonmedullary thyroid carcinoma characterized by the presence of differentiated thyroid cancer of follicular cell origin in two or more first-degree relatives, in the absence of other familial tumor syndromes or radiation exposure. Frequent capsular invasion is observed. Biopsy reveals multicentric tumors with multiple adenomatous nodules with or without oxyphilia and follicular or papillary carcinoma histology.
Most common symptoms of FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA
- Pain
- Recurrent fractures
- Bone pain
- Goiter
- Colon cancer
More info about FAMILIAL PAPILLARY OR FOLLICULAR THYROID CARCINOMA
SOURCES: ORPHANET
Search interest in HABP2
Potential gene panels for HABP2 gene
Factor VII Marburg I Variant Thrombophilia Panel
By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders
This panel specifically test the HABP2 gene.
More info about this panelHABP2 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the HABP2 gene.
More info about this panelIf you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like HJV ENPEP FUCA1 PPP2R2B MGAT2 NTNG1 HCN1