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.

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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). Genetic Heterogeneity of ThrombophiliaTHPH2 (OMIM ) is caused by mutation in the F5 gene (OMIM ) on chromosome 1q23; THPH3 (OMIM ) and THPH4 (OMIM ) are both caused by mutation in the PROC gene (OMIM ) on 2q; THPH5 (OMIM ) and THPH6 (OMIM ) are caused by mutation in the PROS1 gene (OMIM ) on 3q11; THPH7 (OMIM ) is caused by mutation in the AT3 gene (OMIM ) on 1q25; THPH8 (OMIM ) is caused by mutation in the F9 gene (OMIM ) on Xq27; THPH9 (OMIM ) is associated with decreased release of tissue plasminogen activator (PLAT ); THPH10 (OMIM ) is caused by mutation in the HCF2 gene (OMIM ) on 22q11; THPH11 (OMIM ) is caused by mutation in the HRG gene (OMIM ) on 3q27; and THPH12 (OMIM ) is associated with variation in the THBD gene (OMIM ) on 20p11.Susceptibility to thrombosis has also been associated with variation in additional genes, including MTHFR ({607093.0003}); F13B ({134580.0003}); plasminogen activator inhibitor (SERPINE1 ); and several genes encoding fibrinogen (FGA, {134820}; FGB, {134830}; FGG, {134850}). Variation in the SERPINA10 (see {605271.0001}), KNG1 (OMIM ) and HABP2 (OMIM ) genes has also been reported.Protection against venous thrombosis is associated with variation in the F13A1 gene (OMIM ) on 6p25.

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


Potential gene panels for HABP2 gene

Factor VII Marburg I Variant Thrombophilia Panel

Germany.

By Laboratory for Molecular Diagnostics Center for Nephrology and Metabolic Disorders

This panel specifically test the HABP2 gene.

More info about this panel

HABP2 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the HABP2 gene.

More info about this panel


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