ACD gene related symptoms and diseases
All the information presented here about the ACD gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,NCBIGENE,HGNC,ORPHANET, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to ACD gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Global developmental delay | Uncommon - Between 30% and 50% cases |
| Nail dystrophy | Uncommon - Between 30% and 50% cases |
| Microcephaly | Uncommon - Between 30% and 50% cases |
| Esophageal stricture | Uncommon - Between 30% and 50% cases |
| Oral leukoplakia | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with ACD gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Aplastic anemia
- Pancytopenia
- Bone marrow hypocellularity
- Carcinoma
- Growth delay
- Abnormality of the dentition
- Intrauterine growth retardation
- Anemia
And 100 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to ACD gene
Here you will find a list of rare diseases related to the ACD. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6
Description
Dyskeratosis congenita is a multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, nail dysplasia, oral leukoplakia, and increased risk of cancer (summary by Kocak et al., 2014).For a discussion of genetic heterogeneity of dyskeratosis congenita, see DKCA1 (OMIM ).
Most common symptoms of DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6
- Global developmental delay
- Microcephaly
- Growth delay
- Neoplasm
- Anemia
More info about DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 6; DKCA6
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
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
HEREDITARY ISOLATED APLASTIC ANEMIA
Description
Hereditary isolated aplastic anemia is a rare, genetic, constitutional aplastic anemia disorder characterized by severe peripheral blood pancytopenia and bone marrow hypoplasia in multiple individuals of a family, in the absence of any somatic symptoms. Abnormal bleeding, as well as erythrocyte macrocytosis, is reported and patients usually become transfusion-dependent.
More info about HEREDITARY ISOLATED APLASTIC ANEMIA
SOURCES: ORPHANET
Search interest in ACD
Potential gene panels for ACD gene
ACD 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 ACD gene.
More info about this panel United States.
Tier 1: Hereditary Lymphoma and Immunodeficiency Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Tier 1: Hereditary Lymphoma and Immunodeficiency Panel that also includes the following genes: TP53 POT1 TERF2IP ACD KLHDC8B MLH1 MSH2 MSH6 NPAT PMS2
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 Melanoma Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Hereditary Melanoma Sequencing Panel that also includes the following genes: BRCA1 BRCA2 TP53 WRN POT1 CDK4 CDKN2A ACD MC1R POLE
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 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.
Custom gene seqeuncing panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Custom gene seqeuncing panel that also includes the following genes: RYR1 SDHA SDHC EPCAM TP53 TSC1 TSC2 TTR VHL CACNA1S
More info about this panel United States.
Familial Melanoma panel Panel
United States.
By Molecular Diagnostics Laboratory University of Toledo Medical Center Familial Melanoma panel that also includes the following genes: POT1 CDK4 CDKN2A ACD MC1R MITF BAP1
More info about this panel United States.
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.
ACD Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the ACD 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.
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.
Bone Marrow Failure Syndrome Panel Panel
Finland.
By Blueprint Genetics Bone Marrow Failure Syndrome Panel that also includes the following genes: RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26 RPS29
More info about this panel Finland.
Inherited Bone Marrow Failure Panel Panel
United States.
By NeoGenomics Laboratories NeoGenomics Laboratories, Inc. Inherited Bone Marrow Failure Panel that also includes the following genes: RPL11 RPL15 RPL26 RPL35A RPL5 RPS10 RPS17 RPS19 RPS24 RPS26
More info about this panel United States.
MELANOMA NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL MELANOMA NGS PANEL that also includes the following genes: BRCA1 BRCA2 TERT TP53 WRN POT1 CDK4 CDKN2A CDKN2B TERF2IP
More info about this panel Spain.
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