Page last updated: 2024-09-27

Anhidridic Ectodermal Dysplasia, Autosomal Recessive

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.

Synonyms(8)

Synonym
Autosomal Recessive Anhydrotic Ectodermal Dysplasia
Anhidrotic Ectodermal Dysplasia, Autosomal Recessive
Anhidridic Ectodermal Dysplasia, Autosomal Recessive
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
Autosomal Recessive Anhidrotic Ectodermal Dysplasia
Ectodermal Dysplasia, Hypohydrotic, Autosomal Recessive
Ectodermal Dysplasia, Anhidrotic, Autosomal Recessive
Anhydridic Ectodermal Dysplasia, Autosomal Recessive

Research

Studies (7)

TimeframeStudies, This Condition (%)All Conditions %
pre-19900 (0.00)23.3326
1990's0 (0.00)12.5806
2000's3 (42.86)18.1394
2010's4 (57.14)28.8240
2020's0 (0.00)9.53
DrugIndicatedRelationship StrengthStudiesTrials
adenine0low10
cytosine0low10
thymine0low10
tyrosine0low10
valine0low10
threonine0low10
isoleucine0low10
inositol 3-phosphate0low10

Protein Targets (93)

ProteinPotency MeasurementsInhibition MeasurementsActivation MeasurementsDrugs
Chain A, MAJOR APURINIC/APYRIMIDINIC ENDONUCLEASE1001
Chain A, MTA/SAH nucleosidase0101
Chain A, Ribosome-inactivating protein alpha-trichosanthin0011
Chain A, Ricin A chain0011
Chain A, Ribosome-inactivating protein 30011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
Chain A, Phenylethanolamine N-methyltransferase0011
RAR-related orphan receptor gamma2002
TDP1 protein1001
AR protein1001
nuclear receptor subfamily 1, group I, member 31001
cytochrome P450 family 3 subfamily A polypeptide 41001
glucocorticoid receptor [Homo sapiens]1001
estrogen-related nuclear receptor alpha2002
pregnane X nuclear receptor1001
estrogen nuclear receptor alpha2002
cytochrome P450, family 19, subfamily A, polypeptide 1, isoform CRA_a1001
nuclear factor erythroid 2-related factor 2 isoform 21001
heat shock protein beta-11001
importin subunit beta-1 isoform 11001
snurportin-11001
tumor susceptibility gene 101 protein1001
GTP-binding nuclear protein Ran isoform 11001
lamin isoform A-delta101001
Voltage-dependent calcium channel gamma-2 subunit1001
Bile salt export pump0101
Cyclin-dependent kinase 10101
Heat shock protein HSP 90-beta0101
Glutamate receptor 21001
Xanthine dehydrogenase/oxidase0101
TAR DNA-binding protein 431001
Protein mono-ADP-ribosyltransferase PARP150101
Leucine-rich repeat serine/threonine-protein kinase 20202
ATPase family AAA domain-containing protein 51001
Ataxin-21001
GLI family zinc finger 32002
IDH11001
geminin1001
Deoxycytidine kinase0001
acetylcholinesterase1001
Large neutral amino acids transporter small subunit 10303
Proton-coupled amino acid transporter 10101
retinoic acid nuclear receptor alpha variant 11001
activating transcription factor 61001
Thymidine phosphorylase0101
Chain A, CHORISMATE MUTASE0101
Chain A, TYROSYL-tRNA SYNTHETASE0011
Polyphenol oxidase 20001
Carbonic anhydrase 120001
Carbonic anhydrase 10001
Carbonic anhydrase 20001
Plasma kallikrein0001
Carbonic anhydrase 30001
Carbonic anhydrase 40001
Carbonic anhydrase 60001
Adenosine receptor A10001
Adenosine receptor A2a0001
Carbonic anhydrase 5A, mitochondrial0001
Glutamate receptor ionotropic, NMDA 1 0001
Carbonic anhydrase0001
Carbonic anhydrase 70001
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2A 0001
Glutamate receptor ionotropic, NMDA 2B0001
Glutamate receptor ionotropic, NMDA 2C0001
SLC16A10 protein0001
Carbonic anhydrase 90001
Carbonic anhydrase 0001
Carbonic anhydrase-like protein, putative0001
Carbonic anhydrase0001
Carbonic anhydrase0001
Glutamate receptor ionotropic, NMDA 2D0001
Carbonic anhydrase 0001
Tubulin--tyrosine ligase0101
Glutamate receptor ionotropic, NMDA 3B0001
Monocarboxylate transporter 100001
Carbonic anhydrase 150001
Taste receptor type 2 member 140001
Glutamate receptor ionotropic, NMDA 3A0001
Carbonic anhydrase 140001
Carbonic anhydrase 5B, mitochondrial0001
Chain A, Arginase 10101
[prepared from compound, protein, and bioassay information from National Library of Medicine (NLM), extracted Dec-2023]