FADD gene related symptoms and diseases
All the information presented here about the FADD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,OMIM,HGNC,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to FADD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Seizures | Uncommon - Between 30% and 50% cases |
| Fever | Uncommon - Between 30% and 50% cases |
| Ventricular septal defect | Uncommon - Between 30% and 50% cases |
| Cerebral atrophy | Uncommon - Between 30% and 50% cases |
| Recurrent infections | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with FADD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of cardiovascular system morphology
- Encephalopathy
- Pneumonia
- Elevated hepatic transaminase
- Generalized-onset seizure
- Cholestasis
- Decreased liver function
- Hepatic fibrosis
And 2 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to FADD gene
Here you will find a list of rare diseases related to the FADD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OCULOOTODENTAL SYNDROME
Alternate names
OCULOOTODENTAL SYNDROME Is also known as ood
Description
Oculootodental syndrome is a contiguous gene syndrome comprising otodental syndrome (characterized by globodontia and sensorineural high-frequency hearing deficit) associated with eye abnormalities including, typically, iris and chorioretinal coloboma, as well as, on occasion, microcornea, microphtalmos, lenticular opacity, lens coloboma and iris pigment epithelial atrophy.
More info about OCULOOTODENTAL SYNDROME
SOURCES: ORPHANET
FADD-RELATED IMMUNODEFICIENCY
Alternate names
FADD-RELATED IMMUNODEFICIENCY Is also known as fadd deficiency
Description
FADD-related immunodeficiency is a rare genetic immunological disease reported in a single consanguineous Pakistani family with several affected members presenting with severe bacterial and viral infections, recurrent hepatopathy (portal inflammation, fibrosis), and recurrent, stereotypical febrile episodes, sometimes lasting several days, with encephalopathy and difficult-to-control seizures. Variable cardiac malformations were also reported. Although there were autoimmune lymphoproliferative syndrome (ALPS)-like biological features, clinical ALPS was not present. A homozygous missense mutation in the FADD gene (11q13.3) was found in the family and the disease is thought to follow an autosomal recessive pattern of inheritance.
Most common symptoms of FADD-RELATED IMMUNODEFICIENCY
- Seizures
- Fever
- Ventricular septal defect
- Cerebral atrophy
- Recurrent infections
More info about FADD-RELATED IMMUNODEFICIENCY
Search interest in FADD
Potential gene panels for FADD gene
Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS) Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Autoimmune Lymphoproliferative Syndrome Panel by next-generation sequencing (NGS) that also includes the following genes: FAS FASLG CASP10 CASP8 MAGT1 FADD ITK KRAS NRAS
More info about this panel United States.
Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center Autoimmune Lymphoproliferative Syndrome Deletion/Duplication Panel that also includes the following genes: FAS FASLG CASP10 CASP8 MAGT1 FADD ITK KRAS NRAS
More info about this panel United States.
FADD Sequencing Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the FADD gene.
More info about this panel United States.
FADD Deletion/duplication analysis Panel
United States.
By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center
This panel specifically test the FADD gene.
More info about this panel United States.
Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Autoimmune Lymphoproliferative Syndrome/ALPS Sequencing Panel with CNV Detection that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 LRBA CTLA4 MAGT1 FADD
More info about this panel United States.
ALPS/autoimmunity panel Panel
Netherlands.
By Genome Diagnostics Laboratory University Medical Center Utrecht ALPS/autoimmunity panel that also includes the following genes: FAS FASLG ITCH CASP10 CASP8 LRBA FADD AIRE IL2RA FOXP3
More info about this panel Netherlands.
AllNeuro panel Panel
Germany.
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panel Germany.
Invitae Monogenic Autoimmunity Panel Panel
United States.
By Invitae Invitae Monogenic Autoimmunity Panel that also includes the following genes: RMRP SH2D1A SLC7A7 BTK STAT1 STAT3 STAT5B STIM1 STX11 STXBP2
More info about this panel United States.
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.
FADD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the FADD 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.
Hemophagocytic Lymphohistiocytosis Panel Panel
Finland.
By Blueprint Genetics Hemophagocytic Lymphohistiocytosis Panel that also includes the following genes: SH2D1A STX11 STXBP2 FAS FASLG LYST UNC13D MAGT1 FADD XIAP
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.
AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME NGS PANEL that also includes the following genes: SH2D1A STAT3 FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD XIAP
More info about this panel Spain.
Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes Panel
Spain.
By Reference Laboratory Genetics Autosomic Autoimmune Lymphoproliferative Syndrome , Panel Massive Sequencing (NGS) 10 Genes that also includes the following genes: FAS FASLG CASP10 CASP8 CTLA4 MAGT1 FADD ITK KRAS NRAS
More info about this panel Spain.
Tempus xO assay Panel
United States.
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panel United States.
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