PARN gene related symptoms and diseases
All the information presented here about the PARN gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to PARN gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Pulmonary fibrosis | Common - Between 50% and 80% cases |
| Bone marrow hypocellularity | Common - Between 50% and 80% cases |
| Premature graying of hair | Common - Between 50% and 80% cases |
| Ataxia | Common - Between 50% and 80% cases |
| Intrauterine growth retardation | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with PARN gene alterations may also develop some of the following symptoms and phenotypes:Commonly - More than 50% cases
- Microcephaly
- Short stature
- Global developmental delay
- Alopecia
- Cerebellar hypoplasia
- Nail dystrophy
- Carious teeth
- Abnormality of skin pigmentation
And 178 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to PARN gene
Here you will find a list of rare diseases related to the PARN. 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
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
DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6
Description
Autosomal recessive dyskeratosis congenita-6 is a bone marrow failure disorder associated with abnormal skin pigmentation, nail dystrophy, oral leukoplakia, microcephaly, and developmental delay (summary by Tummala et al., 2015).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).
Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
More info about DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 6; DKCB6
SOURCES: OMIM
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
PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4
Most common symptoms of PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4
- Abnormal lung morphology
- Bone marrow hypocellularity
- Pulmonary fibrosis
- Premature graying of hair
More info about PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE, TELOMERE-RELATED, 4; PFBMFT4
SOURCES: OMIM
Search interest in PARN
Potential gene panels for PARN 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
More info about this panel United States.
Hermansky-Pudlak and Pulmonary Fibrosis Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Hermansky-Pudlak and Pulmonary Fibrosis Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SFTPD TERC TERT TINF2 NKX2-1 HPS3
More info about this panel United States.
Inherited Bone Marrow Failure Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Inherited Bone Marrow Failure Sequencing Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Comprehensive Telomere Biology Disorder/Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 POT1 ACD NAF1 WRAP53
More info about this panel United States.
Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Myeloid Malignancy and Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS7
More info about this panel United States.
Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Dyskeratosis Congenita (DC) and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 CTC1 DKC1 PARN
More info about this panel United States.
Interstitial Lung Disease Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Interstitial Lung Disease Sequencing Panel with CNV Detection that also includes the following genes: SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT TINF2
More info about this panel United States.
Dyskeratosis Congenita (DC) via PARN Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the PARN gene.
More info about this panel United States.
Dyskeratosis congenita NGS panel Panel
United States.
By Connective Tissue Gene Tests Dyskeratosis congenita NGS panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1
More info about this panel United States.
Dyskeratosis congenita Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Dyskeratosis congenita Deletion / Duplication panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1
More info about this panel United States.
Dyskeratosis congenita Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Dyskeratosis congenita Comprehensive panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1
More info about this panel United States.
Dyskeratosis congenita, autosomal recessive type 6 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PARN gene.
More info about this panel Germany.
Pulmonary fibrosis and/or bone marrow failure, telomere-related, type 4 Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the PARN gene.
More info about this panel Germany.
Comprehensive pulmonary disease panel Panel
Germany.
By Centogene AG - the Rare Disease Company Comprehensive pulmonary disease panel that also includes the following genes: BDNF SCNN1A SCNN1B SCNN1G BMPR2 SFTPA1 SFTPA2 SFTPB SFTPC SFTPD
More info about this panel Germany.
NGS Panel for Dyskeratosis congenita Panel
Spain.
By BLOODGENETICS BLOODGENETICS NGS Panel for Dyskeratosis congenita that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 ACD WRAP53 USB1 CTC1
More info about this panel Spain.
Invitae Primary Immunodeficiency Panel Panel
United States.
By Invitae Invitae Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC SEMA3E SH2D1A SH3BP2 SLC7A7 SMARCAL1 BTK STAT1 STAT2
More info about this panel United States.
Invitae Syndromic Combined Immunodeficiency (CID) Panel Panel
United States.
By Invitae Invitae Syndromic Combined Immunodeficiency (CID) Panel that also includes the following genes: RMRP SEMA3E SMARCAL1 STAT3 STAT5B STIM1 TBX1 TCN2 TERC TERT
More info about this panel United States.
PARN Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the PARN gene.
More info about this panel United States.
Primary Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Primary Immunodeficiency Panel that also includes the following genes: RMRP RORC CFB BLM SH2D1A SLC7A7 SMARCAL1 SMARCD2 SRP72 BTK
More info about this panel Finland.
Dyskeratosis Congenita Panel Panel
Finland.
By Blueprint Genetics Dyskeratosis Congenita Panel that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 DCLRE1B WRAP53 USB1 CTC1
More info about this panel Finland.
Severe Combined Immunodeficiency Panel Panel
Finland.
By Blueprint Genetics Severe Combined Immunodeficiency Panel that also includes the following genes: RMRP BLM SH2D1A SMARCAL1 STAT1 STAT2 STAT3 STAT5B STIM1 STK4
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Comprehensive Pulmonology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Pulmonology Panel that also includes the following genes: SCN4A SCNN1A SCNN1B SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC6A5 SLC7A7
More info about this panel Finland.
Interstitial Lung Disease Panel Panel
Finland.
By Blueprint Genetics Interstitial Lung Disease Panel that also includes the following genes: SFTPA1 SFTPA2 SFTPB SFTPC SLC34A2 SLC7A7 SMPD1 STAT3 TERC TERT
More info about this panel Finland.
DYSKERATOSIS CONGENITA Panel
Spain.
By Laboratorio de Genetica Clinica SL DYSKERATOSIS CONGENITA that also includes the following genes: TERC TERT TINF2 NHP2 NOP10 RTEL1 WRAP53 USB1 CTC1 GRHL2
More info about this panel Spain.
PULMONARY FIBROSIS, IDIOPATHIC Panel
Spain.
By Laboratorio de Genetica Clinica SL PULMONARY FIBROSIS, IDIOPATHIC that also includes the following genes: SFTPA2 SFTPC TERC TERT RTEL1 MUC5B PARN
More info about this panel Spain.
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like ROBO1 FIG4 LRRK2 COQ8A WIPF1 TBXT ACSF3