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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine



   autosomal recessive hypohidrotic ectodermal dysplasia
  

Disease ID 1391
Disease autosomal recessive hypohidrotic ectodermal dysplasia
Definition
An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.
Synonym
anhidridic ectodermal dysplasia, autosomal recessive
anhidrotic ectodermal dysplasia, autosomal recessive
anhydridic ectodermal dysplasia, autosomal recessive
autosomal recessive anhidrotic ectodermal dysplasia
autosomal recessive anhydrotic ectodermal dysplasia
autosomal recessive hypohidrotic ectodermal dysplasia syndrome
autosomal recessive hypohidrotic ectodermal dysplasia syndrome (disorder)
ectodermal dysplasia, anhidrotic, autosomal recessive
ectodermal dysplasia, hypohidrotic, autosomal recessive
ectodermal dysplasia, hypohidrotic, autosomal recessive [disease/finding]
ectodermal dysplasia, hypohydrotic, autosomal recessive
hypohidrotic autosomal recessive ectodermal dysplasia
Orphanet
UMLS
C0406702
MeSH
SNOMED-CT
Curated Gene
Entrez_id | Symbol | Resource(Total Genes:3)
128178  |  EDARADD  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
10913  |  EDAR  |  CLINVAR;CTD_human;ORPHANET;UNIPROT
80326  |  WNT10A  |  ORPHANET
Inferring Gene(Waiting for update.)
Text Mined Gene(Waiting for update.)
Locus
Symbol | Locus(Total Locus:3)
EDARADD  |  1q42.3-q43
WNT10A  |  2q35
EDAR  |  2q13
Disease ID 1391
Disease autosomal recessive hypohidrotic ectodermal dysplasia
Integrated Phenotype
HPO | Name(Total Integrated Phenotypes:10)
HP:0001596  |  Alopecia
HP:0000958  |  Dry skin
HP:0000685  |  Hypoplasia of teeth
HP:0000966  |  Hypohidrosis
HP:0006482  |  Abnormality of dental morphology
HP:0002213  |  Fine hair
HP:0001595  |  Abnormality of the hair
HP:0001231  |  Abnormality of the fingernails
HP:0006323  |  Premature loss of primary teeth
HP:0008388  |  Abnormality of the toenails
Text Mined Phenotype(Waiting for update.)
Disease ID 1391
Disease autosomal recessive hypohidrotic ectodermal dysplasia
Manually Symptom(Waiting for update.)
Text Mined Symptom(Waiting for update.)
Manually Genotype(Total Text Mining Genotypes:0)
(Waiting for update.)
Text Mining Genotype(Total Genotypes:0)
(Waiting for update.)
All Snps(Total Genotypes:10)
snpId pubmedId geneId geneSymbol diseaseId sourceId sentence score Year geneSymbol_dbSNP CHROMOSOME POS REF ALT
rs121908450NA10913EDARumls:C0406702CLINVARNA0.362171535NAEDAR2108929288CT
rs121908451NA10913EDARumls:C0406702CLINVARNA0.362171535NAEDAR2108929295AG
rs121908454NA10913EDARumls:C0406702CLINVARNA0.362171535NAEDAR2108897130CT
rs121908455NA10913EDARumls:C0406702CLINVARNA0.362171535NAEDAR2108929225TG
rs397515575NA128178EDARADDumls:C0406702CLINVARNA0.360271442NAEDARADD1236482403AACGGT-
rs74315309NA128178EDARADDumls:C0406702CLINVARNA0.360271442NAEDARADD1236482455GA
rs747806672NA10913EDARumls:C0406702CLINVARNA0.362171535NAEDAR2108897110CT
rs797044435NA10913EDARumls:C0406702CLINVARNA0.362171535NAEDAR2108930963CT
rs797044436NA10913EDARumls:C0406702CLINVARNA0.362171535NAEDAR2108910784TCTT-
rs797044437NA10913EDARumls:C0406702CLINVARNA0.362171535NAEDAR2108910459CT
GWASdb Annotation(Total Genotypes:0)
(Waiting for update.)
GWASdb Snp Trait(Total Genotypes:0)
(Waiting for update.)
Mapped by lexical matching(Total Items:8)
HP ID HP Name MP ID MP Name Annotation
HP:0006323Premature loss of primary teethMP:0013621decreased internal diameter of femurreduced cross-sectional distance that extends from one lateral edge of the femur long bone marrow cavity, through its center and to the opposite lateral edge of the bone marrow cavity through the mid point of the femur
HP:0002213Fine hairMP:0010685abnormal hair follicle inner root sheath morphologyany structural anomaly of the multilayered tube composed of terminally differentiated hair follicle keratinocytes that is surrounded by the outer root sheath; the layers of the inner root sheath include the companion layer, Henle's layer, Huxley's layer a
HP:0008388Abnormality of the toenailsMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0001231Abnormality of the fingernailsMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0000685Hypoplasia of teethMP:0009536abnormal interstitial cell of Cajal morphologyany structural anomaly in the type of cell found in the gastrointestinal tract and serving as a pacemaker that triggers gut contraction; ICCs mediate inputs from the enteric nervous system to smooth muscle cells and are thought to be the cells from which
HP:0006482Abnormality of dental morphologyMP:0012069abnormal horizontal basal cell of olfactory epithelium morphologyany structural anomaly of the flat or angular epithelial cell with condensed nuclei and darkly staining cytoplasm containing numerous intermediate filaments inserted into desmosomes contacting surrounding supporting cells, that lie in contact with the bas
HP:0001595Abnormality of the hairMP:0008261arrest of male meiosiscessation of the progression of the process of nuclear division that results in sperm with one half the normal chromosome number of the original cell
HP:0000958Dry skinMP:0010678abnormal skin adnexa morphologyany structural anomaly of the tissue or structures associated with or embedded in the skin such as hair and hair follicles, sweat glands, sebaceous glands and claws or nails
Mapped by homologous gene(Total Items:10)
HP ID HP Name MP ID MP Name Annotation
HP:0001595Abnormality of the hairMP:0014127increased thymoma incidencegreater than the expected number of a malignant neoplasm originating from the epithelial cells of the thymus, occurring in a specific population in a given time period; thymoma is an uncommon tumor linked with myasthenia gravis and other autoimmune diseas
HP:0008388Abnormality of the toenailsMP:0014175abnormal ciliary epithelium morphologyany structural anomaly of the double layer lining the inner surfaces of the ciliary processes and the pars plana (i.e. the posterior portion of the ciliary body, aka orbicularis ciliari); the outer layer is the pigmented epithelium, which is composed of l
HP:0000958Dry skinMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0001231Abnormality of the fingernailsMP:0020254decreased collagen leveldecreased level of the main structural protein of the various connective tissues in animals
HP:0000685Hypoplasia of teethMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0002213Fine hairMP:0013897decreased eyelid cilium numberreduction in the number of the hairs that grow at the edge of the upper or lower eyelid
HP:0006482Abnormality of dental morphologyMP:0014176abnormal cilary zonule morphologyany structural anomaly of the circumferential suspensory ligaments that anchor the lens to the ciliary process and are made of bundles of fibrillin microfibrils, an elaborate system of fibers that spans the gap between the lens and the adjacent nonpigment
HP:0006323Premature loss of primary teethMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
HP:0001596AlopeciaMP:0020220decreased tear productiondecreased production of the amount of fluid produced in the eye
HP:0000966HypohidrosisMP:0020137decreased bone mineralizationdecrease in the rate at which minerals are deposited into bone
Disease ID 1391
Disease autosomal recessive hypohidrotic ectodermal dysplasia
Case(Waiting for update.)