TERT gene related symptoms and diseases

All the information presented here about the TERT gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,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 TERT gene

Symptoms // Phenotype	% Cases
Neoplasm	Uncommon - Between 30% and 50% cases
Aplastic anemia	Uncommon - Between 30% and 50% cases
Anemia	Uncommon - Between 30% and 50% cases
Thrombocytopenia	Uncommon - Between 30% and 50% cases
Bone marrow hypocellularity	Uncommon - Between 30% and 50% cases

Other less frequent symptoms and clinical features

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

Not very common - Between 30% and 50% cases
Pulmonary fibrosis
Microcephaly
Pancytopenia
Cirrhosis
Premature graying of hair
Abnormality of the dentition
Respiratory distress
Myelodysplasia

And 302 more phenotypes, you can get all of them using our tools for rare diseases.

Rare diseases associated to TERT gene

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

IDIOPATHIC PULMONARY FIBROSIS

Alternate names

IDIOPATHIC PULMONARY FIBROSIS Is also known as cfa, uip, usual interstitial pneumonia, interstitial pneumonitis, usual, idiopathic pulmonary fibrosis, familial, cryptogenic fibrosing alveolitis, fibrosing alveolitis, cryptogenic, fibrocystic pulmonary dysplasia

Description

Idiopathic pulmonary fibrosis (IPF) is a nonneoplastic pulmonary disease that is characterized by the formation of scar tissue within the lungs in the absence of any known cause.

Most common symptoms of IDIOPATHIC PULMONARY FIBROSIS

Neoplasm
Hypertension
Fever
Respiratory insufficiency
Respiratory distress

More info about IDIOPATHIC PULMONARY FIBROSIS

SOURCES: OMIM ORPHANET

DYSKERATOSIS CONGENITA

Alternate names

DYSKERATOSIS CONGENITA Is also known as dkc, dc, dyskeratosis congenita, scoggins type, zinsser-engman-cole syndrome

Description

Dyskeratosis congenita (DC) is a rare ectodermal dysplasia that often presents with the classic triad of nail dysplasia, skin pigmentary changes, and oral leukoplakia associated with a high risk of bone marrow failure (BMF) and cancer.

Most common symptoms of DYSKERATOSIS CONGENITA

Global developmental delay
Short stature
Hearing impairment
Microcephaly
Scoliosis

More info about DYSKERATOSIS CONGENITA

SOURCES: ORPHANET MESH OMIM

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Description

Dyskeratosis congenita is a bone marrow failure syndrome classically characterized by the triad of abnormal skin pigmentation, nail dystrophy, and leukoplakia of the oral mucosa. Progressive bone marrow failure occurs in over 80% of cases and is the main cause of early mortality. The phenotype is highly variable, and affected individuals may have multiple additional features, including pulmonary fibrosis, liver cirrhosis, premature hair loss and/or graying, osteoporosis, atresia of the lacrimal ducts, and learning difficulties. Predisposition to malignancy is an important feature. The disorder is caused by defects in the maintenance of telomeres (summary by Kirwan and Dokal, 2008).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Intellectual disability
Microcephaly
Abnormality of the dentition
Thrombocytopenia
Alopecia

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

SOURCES: MESH OMIM

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Description

Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair (summary by Armanios et al., 2005).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).

Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Global developmental delay
Short stature
Microcephaly
Growth delay
Failure to thrive

More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

SOURCES: OMIM

CRI-DU-CHAT SYNDROME

Alternate names

CRI-DU-CHAT SYNDROME Is also known as cat cry syndrome, chromosome 5p deletion syndrome

Description

Cri-du-chat syndrome was first described by Lejeune et al. (1963) as a hereditary congenital syndrome associated with deletion of part of the short arm of chromosome 5. The deletions can vary in size from extremely small and involving only band 5p15.2 to the entire short arm. Although the majority of deletions arise as new mutations, approximately 12% result from unbalanced segregation of translocations or recombination involving a pericentric inversion in one of the parents.

Most common symptoms of CRI-DU-CHAT SYNDROME

Intellectual disability
Global developmental delay
Short stature
Generalized hypotonia
Hearing impairment

More info about CRI-DU-CHAT SYNDROME

SOURCES: MESH ORPHANET OMIM

LEUKEMIA, ACUTE MYELOID; AML

Alternate names

LEUKEMIA, ACUTE MYELOID; AML Is also known as leukemia, acute myelogenous

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

Seizures
Neoplasm
Pain
Anemia
Fever

More info about LEUKEMIA, ACUTE MYELOID; AML

SOURCES: OMIM ORPHANET

HOYERAAL-HREIDARSSON SYNDROME

Alternate names

HOYERAAL-HREIDARSSON SYNDROME Is also known as progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome, zinsser-cole-engman syndrome

Description

Hoyeraal-Hreidarsson syndrome (HHS) is a very rare X-linked recessive disorder considered to be a severe variant of dyskeratosis congenita (see this term) characterized by intrauterine growth retardation, microcephaly, cerebellar hypoplasia, progressive combined immune deficiency and aplastic anemia.

Most common symptoms of HOYERAAL-HREIDARSSON SYNDROME

Intellectual disability
Seizures
Global developmental delay
Short stature
Generalized hypotonia

More info about HOYERAAL-HREIDARSSON SYNDROME

SOURCES: ORPHANET OMIM

FAMILIAL MELANOMA

Description

Familial melanoma (FM) is a rare inherited form of melanoma characterized by development of histologically confirmed melanoma in two first degrees relatives or more relatives in an affected family.

Most common symptoms of FAMILIAL MELANOMA

Retinopathy
Dry skin
Nevus
Abnormality of extrapyramidal motor function
Abnormality of the hair

More info about FAMILIAL MELANOMA

SOURCES: ORPHANET

IDIOPATHIC APLASTIC ANEMIA

Alternate names

IDIOPATHIC APLASTIC ANEMIA Is also known as idiopathic bone marrow failure

Description

Aplastic anemia is a serious disorder of the bone marrow that affects between 2 and 5 persons per million per year. About 75% of these cases are classified as idiopathic (Young, 2000). In about 15% of cases a drug or infection can be identified that precipitates the aplasia, although why only some individuals are susceptible is unclear. In about 5 to 10% of patients, the aplastic anemia is constitutional--i.e., is familial or presents with one or more associated somatic abnormalities (summary by Vulliamy et al., 2002).

Most common symptoms of IDIOPATHIC APLASTIC ANEMIA

Anemia
Bone marrow hypocellularity
Aplastic anemia
Hemophagocytosis

More info about IDIOPATHIC APLASTIC ANEMIA

SOURCES: ORPHANET OMIM

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9

Description

Malignant melanoma is a neoplasm of pigment-producing cells called melanocytes that occurs most often in the skin, but may also occur in the eyes, ears, gastrointestinal tract, leptomeninges, and oral and genital mucous membranes (summary by Habif, 2010).For a discussion of genetic heterogeneity of malignant melanoma, see {155600}.

Most common symptoms of MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9

Neoplasm
Carcinoma
Melanoma
Ovarian neoplasm
Renal cell carcinoma

More info about MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9

SOURCES: OMIM

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1

Description

Shortened telomeres can cause a wide variety of clinical features that constitute a phenotypic spectrum. The most severe form is dyskeratosis congenita (see, e.g., {127750}), characterized by early childhood onset of skin abnormalities, bone marrow failure, predisposition to malignancy, and risk of pulmonary and hepatic fibrosis. Adult-onset pulmonary fibrosis is the most common manifestation of mutant telomerase genes. Other manifestations include aplastic anemia due to bone marrow failure, hepatic fibrosis, and increased cancer risk, particularly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML). Phenotype, age at onset, and severity are determined by telomere length, not just telomerase mutation (summary by Armanios, 2009).The genetic diagnosis of telomere-related bone marrow failure and pulmonary fibrosis has implications for treatment because affected individuals generally do not respond to immunosuppression and may be at increased risk for fatal complications after bone marrow or lung transplantation (Parry et al., 2011). Genetic Heterogeneity of Telomere-Related Pulmonary Fibrosis and/or Bone Marrow FailureAlso see PFBMFT2 (OMIM ), caused by mutation in the TERC gene (OMIM ) on chromosome 3q26; PFBMFT3 (OMIM ), caused by mutation in the RTEL1 gene (OMIM ) on chromosome 20q13; and PFBMFT4 (OMIM ), caused by mutation in the PARN gene (OMIM ) on chromosome 16p13.

Most common symptoms of PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1

Neoplasm
Anemia
Thrombocytopenia
Pneumonia
Dyspnea

More info about PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1

SOURCES: OMIM

CLEAR CELL SARCOMA OF KIDNEY

Alternate names

CLEAR CELL SARCOMA OF KIDNEY Is also known as ccsk

Description

Clear cell sarcoma of kidney is a rare, primary, genetic renal tumor usually characterized by a unilateral, unicentric, morphologically diverse tumor that arises from the renal medulla and has a tendency for vascular invasion. Clinically it presents with a palpable abdominal mass, abdominal or flank pain, hematuria, anemia and/or fatigue. Metastatic spread to lymph nodes, bones, lungs, retroperitoneum, brain and liver is common at time of diagnosis and therefore bone pain, cough or neurological compromise may be associated. Metastasis to unusual sites, such as the scalp, neck, nasopharynx, axilla, orbits and epidural space, have been reported.

More info about CLEAR CELL SARCOMA OF KIDNEY

SOURCES: ORPHANET

Search interest in TERT

Potential gene panels for TERT gene

Comprehensive Pulmonary Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Pulmonary Panel that also includes the following genes: RPGR SCNN1A SCNN1B SCNN1G BMPR1B BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC

TERT gene related symptoms and diseases

Top 5 symptoms and clinical features associated to TERT gene

Other less frequent symptoms and clinical features

Not very common - Between 30% and 50% cases

Rare diseases associated to TERT gene

IDIOPATHIC PULMONARY FIBROSIS

Alternate names

Description

Most common symptoms of IDIOPATHIC PULMONARY FIBROSIS

DYSKERATOSIS CONGENITA

Alternate names

Description

Most common symptoms of DYSKERATOSIS CONGENITA

DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

Description

Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1; DKCB1

DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

Description

Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2

CRI-DU-CHAT SYNDROME

Alternate names

Description

Most common symptoms of CRI-DU-CHAT SYNDROME

LEUKEMIA, ACUTE MYELOID; AML

Alternate names

Most common symptoms of LEUKEMIA, ACUTE MYELOID; AML

HOYERAAL-HREIDARSSON SYNDROME

Alternate names

Description

Most common symptoms of HOYERAAL-HREIDARSSON SYNDROME

FAMILIAL MELANOMA

Description

Most common symptoms of FAMILIAL MELANOMA

IDIOPATHIC APLASTIC ANEMIA

Alternate names

Description

Most common symptoms of IDIOPATHIC APLASTIC ANEMIA

MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9

Description

Most common symptoms of MELANOMA, CUTANEOUS MALIGNANT, SUSCEPTIBILITY TO, 9; CMM9

PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1

Description

Most common symptoms of PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 1; PFBMFT1

CLEAR CELL SARCOMA OF KIDNEY

Alternate names

Description

Search interest in TERT

Potential gene panels for TERT gene

Comprehensive Pulmonary Panel Panel

Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel

Diffuse Lung Disease NGS Panel Panel

Telomere Shortening Disorders Spectrum NGS Panel Panel

Idiopathic Pulmonary Fibrosis NGS Panel Panel

Bone Marrow Failure Panel

Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS) Panel

Dyskeratosis Congenita panel by next-generation sequencing (NGS) Panel

TERT Sequencing Panel

Bone Marrow Failure Syndromes Deletion/Duplication Panel Panel

Dyskeratosis Congenita Deletion/Duplication Panel Panel

TERT Deletion/duplication analysis Panel

Inherited Bone Marrow Failure Sequencing Panel Panel

Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel Panel

Thrombocytopenia Sequencing Panel Panel

Comprehensive Hereditary Cancer Panel Panel

Hereditary Leukemia and Breast Cancer Panel Panel

Tier 1: Familial Myelodysplastic Syndrome/Acute Leukemia (MDS/AL) Panel

Thrombocytopenia Deletion/Duplication Panel Panel

Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel

Basic Fibrosis Panel (12 Genes) Panel

PulmoGene Panel (64 Genes) Panel

Pulmonary Fibrosis - Hermansky Pudlak Panel (21 Genes) Panel

TERT/TERC gene sequence and deletion/duplication Panel

DCNext Panel

TERT. Complete sequencing Panel

TERT. Complete sequencing Panel

Hereditary Melanoma Panel Panel

Neonatal Respiratory Distress Del/Dup Panel Panel

Neonatal Respiratory Distress Seq + Del/ Dup Panel Panel

Neonatal Respiratory Distress Seq Analysis Panel

Comprehensive Pulmonary-Vascular Seq Analysis Panel