EDARADD
Basic information
Region (hg38): 1:236348257-236502915
Links
Phenotypes
GenCC
Source:
- ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant (Moderate), mode of inheritance: Semidominant
- autosomal recessive hypohidrotic ectodermal dysplasia (Supportive), mode of inheritance: AR
- autosomal dominant hypohidrotic ectodermal dysplasia (Supportive), mode of inheritance: AD
- tooth agenesis (Supportive), mode of inheritance: AD
- ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant (Strong), mode of inheritance: AD
- ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (Strong), mode of inheritance: AR
Clinical Genomic Database
Source:
Condition | Inheritance | Intervention Categories | Intervention/Rationale | Manifestation Categories | References |
---|---|---|---|---|---|
Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | AD/AR | General | Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing | Dental; Dermatologic | 9245989; 11780064; 17354266; 20979233; 21626677; 21876339 |
ClinVar
This is a list of variants' phenotypes submitted to
- Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (3 variants)
- Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive;Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant (1 variants)
- not provided (1 variants)
- Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the EDARADD gene is commonly pathogenic or not.
In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.
Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 7 | |||||
missense | 30 | 38 | ||||
nonsense | 3 | |||||
start loss | 0 | |||||
frameshift | 3 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 1 | |||||
splice region | 1 | 1 | 3 | 5 | ||
non coding | 41 | 12 | 31 | 84 | ||
Total | 5 | 4 | 75 | 20 | 32 |
Highest pathogenic variant AF is 0.00000657
Variants in EDARADD
This is a list of pathogenic ClinVar variants found in the EDARADD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-236394112-T-G | Benign (Nov 11, 2018) | |||
1-236394442-G-A | not specified • Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia | Benign/Likely benign (Jan 13, 2018) | ||
1-236394459-G-A | Likely benign (Oct 16, 2017) | |||
1-236394466-C-G | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | Uncertain significance (Aug 08, 2022) | ||
1-236394471-G-A | not specified • Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | Benign (Jan 31, 2024) | ||
1-236394504-G-A | not specified • Hypohidrotic Ectodermal Dysplasia, Recessive • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive • Hypohidrotic ectodermal dysplasia | Benign/Likely benign (Jan 29, 2024) | ||
1-236394623-G-T | Benign (May 12, 2021) | |||
1-236394628-G-A | not specified | Benign (Nov 11, 2018) | ||
1-236395596-C-T | Likely benign (Jun 05, 2019) | |||
1-236395749-G-A | Benign (May 25, 2021) | |||
1-236408953-T-G | Benign (Jun 18, 2021) | |||
1-236409068-T-TA | Benign (May 21, 2021) | |||
1-236409089-G-A | Benign (Nov 11, 2018) | |||
1-236409175-A-G | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant • Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | Benign (Jul 30, 2021) | ||
1-236409198-T-C | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | Likely benign (Aug 17, 2023) | ||
1-236409234-C-T | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant | Uncertain significance (Mar 29, 2024) | ||
1-236409239-G-A | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | Pathogenic (Feb 13, 2021) | ||
1-236409255-G-A | Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | Uncertain significance (Aug 08, 2022) | ||
1-236409258-C-A | Inborn genetic diseases | Uncertain significance (Jan 02, 2024) | ||
1-236409269-A-G | Hypohidrotic Ectodermal Dysplasia, Recessive • Hypohidrotic ectodermal dysplasia • Inborn genetic diseases | Conflicting classifications of pathogenicity (Jan 18, 2022) | ||
1-236409275-G-A | Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | Pathogenic (Aug 09, 2016) | ||
1-236409281-G-A | Hypohidrotic ectodermal dysplasia • Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant;Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive | Benign (Jul 04, 2022) | ||
1-236409284-A-G | Likely benign (Jul 31, 2018) | |||
1-236409544-T-G | Benign (Jun 18, 2021) | |||
1-236414050-T-C | Benign (May 12, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
EDARADD | protein_coding | protein_coding | ENST00000334232 | 6 | 136653 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.000318 | 0.825 | 125730 | 0 | 18 | 125748 | 0.0000716 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.14 | 91 | 127 | 0.715 | 0.00000721 | 1445 |
Missense in Polyphen | 34 | 59.14 | 0.57491 | 656 | ||
Synonymous | 0.110 | 46 | 47.0 | 0.980 | 0.00000282 | 378 |
Loss of Function | 1.21 | 7 | 11.4 | 0.614 | 5.78e-7 | 132 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000148 | 0.000148 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.000109 | 0.000109 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000794 | 0.0000791 |
Middle Eastern | 0.000109 | 0.000109 |
South Asian | 0.0000663 | 0.0000653 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: Adapter protein that interacts with EDAR DEATH domain and couples the receptor to EDA signaling pathway during morphogenesis of ectodermal organs. Mediates the activation of NF- kappa-B. {ECO:0000269|PubMed:11882293}.;
- Disease
- DISEASE: Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive (ECTD11B) [MIM:614941]: A disorder due to abnormal development of two or more ectodermal structures, and characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. {ECO:0000269|PubMed:11780064, ECO:0000269|PubMed:17354266, ECO:0000269|PubMed:20222921}. Note=The disease is caused by mutations affecting the gene represented in this entry.;
- Pathway
- EDA Signalling in Hair Follicle Development;TNFR2 non-canonical NF-kB pathway;Cytokine Signaling in Immune system;Immune System;TNFs bind their physiological receptors
(Consensus)
Recessive Scores
- pRec
- 0.0938
Intolerance Scores
- loftool
- 0.394
- rvis_EVS
- 0.19
- rvis_percentile_EVS
- 66.82
Haploinsufficiency Scores
- pHI
- 0.123
- hipred
- N
- hipred_score
- 0.389
- ghis
- 0.451
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.637
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Edaradd
- Phenotype
- craniofacial phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; endocrine/exocrine gland phenotype; pigmentation phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); hearing/vestibular/ear phenotype; vision/eye phenotype; skeleton phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); hematopoietic system phenotype;
Zebrafish Information Network
- Gene name
- edaradd
- Affected structure
- chondrocranium cartilage
- Phenotype tag
- abnormal
- Phenotype quality
- decreased size
Gene ontology
- Biological process
- multicellular organism development;cell differentiation;tumor necrosis factor-mediated signaling pathway
- Cellular component
- cytosol
- Molecular function
- protein binding