MCID: HYP206
MIFTS: 32

Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Categories: Rare diseases, Eye diseases, Skin diseases, Fetal diseases

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

MalaCards integrated aliases for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

Name: Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 53
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 73
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia 59
Anhidrotic Ectodermal Dysplasia, Autosomal Recessive 53
Autosomal Recessive Anhidrotic Ectodermal Dysplasia 59
Ar-Hed 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive hypohidrotic ectodermal dysplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:



External Ids:

Orphanet 59 ORPHA248
ICD10 via Orphanet 34 Q82.4
MESH via Orphanet 45 D053360
UMLS via Orphanet 74 C0406702
UMLS 73 C0406702

Summaries for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

MalaCards based summary : Hypohidrotic Ectodermal Dysplasia Autosomal Recessive, also known as ectodermal dysplasia, hypohidrotic, autosomal recessive, is related to ectodermal dysplasia and ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive. An important gene associated with Hypohidrotic Ectodermal Dysplasia Autosomal Recessive is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are Cytokine Signaling in Immune system and TNFs bind their physiological receptors. Affiliated tissues include skin and eye, and related phenotypes are dry skin and abnormality of the fingernails

Related Diseases for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Graphical network of the top 20 diseases related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:



Diseases related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Symptoms & Phenotypes for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Human phenotypes related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

59 32 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000958
2 abnormality of the fingernails 59 32 hallmark (90%) Very frequent (99-80%) HP:0001231
3 fine hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002213
4 premature loss of primary teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0006323
5 hypoplasia of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000685
6 hypohidrosis 59 32 frequent (33%) Frequent (79-30%) HP:0000966
7 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
8 abnormality of dental morphology 59 32 frequent (33%) Frequent (79-30%) HP:0006482
9 abnormality of the toenails 59 Very frequent (99-80%)
10 abnormality of the hair 59 Very frequent (99-80%)
11 abnormal toenail morphology 32 hallmark (90%) HP:0008388

MGI Mouse Phenotypes related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.13 EDAR EDARADD WNT10A
2 limbs/digits/tail MP:0005371 8.8 EDAR EDARADD WNT10A

Drugs & Therapeutics for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Genetic Tests for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Anatomical Context for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

MalaCards organs/tissues related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

41
Skin, Eye

Publications for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Articles related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

(show all 14)
# Title Authors Year
1
A novel EDARADD 5'-splice site mutation resulting in activation of two alternate cryptic 5'-splice sites causes autosomal recessive Hypohidrotic Ectodermal Dysplasia. ( 26991760 )
2016
2
A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia. ( 24764207 )
2014
3
Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. ( 23210707 )
2013
4
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. ( 21771270 )
2011
5
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia. ( 21332691 )
2011
6
A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. ( 20033817 )
2010
7
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family. ( 20199431 )
2010
8
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. ( 20236127 )
2010
9
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. ( 19551394 )
2009
10
A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia. ( 17501952 )
2007
11
Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia. ( 16246000 )
2005
12
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. ( 16029325 )
2005
13
Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote. ( 890117 )
1977
14
Autosomal recessive hypohidrotic ectodermal dysplasia: dental manifestations. ( 4502148 )
1972

Variations for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

ClinVar genetic disease variations for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

6
(show top 50) (show all 66)
# Gene Variation Type Significance SNP ID Assembly Location
1 EDARADD NM_080738.3(EDARADD): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs74315309 GRCh37 Chromosome 1, 236645755: 236645755
2 EDARADD NM_080738.3(EDARADD): c.424G> A (p.Glu142Lys) single nucleotide variant Pathogenic rs74315309 GRCh38 Chromosome 1, 236482455: 236482455
3 EDAR EDAR, 18-BP DEL, IVS2 deletion Pathogenic
4 EDAR NM_022336.3(EDAR): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs121908450 GRCh37 Chromosome 2, 109545744: 109545744
5 EDAR NM_022336.3(EDAR): c.266G> A (p.Arg89His) single nucleotide variant Pathogenic rs121908450 GRCh38 Chromosome 2, 108929288: 108929288
6 EDAR EDAR, DEL deletion Pathogenic
7 EDAR NM_022336.3(EDAR): c.259T> C (p.Cys87Arg) single nucleotide variant Pathogenic rs121908451 GRCh37 Chromosome 2, 109545751: 109545751
8 EDAR NM_022336.3(EDAR): c.259T> C (p.Cys87Arg) single nucleotide variant Pathogenic rs121908451 GRCh38 Chromosome 2, 108929295: 108929295
9 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh37 Chromosome 2, 109513638: 109513638
10 EDAR NM_022336.3(EDAR): c.1072C> T (p.Arg358Ter) single nucleotide variant Pathogenic rs121908452 GRCh38 Chromosome 2, 108897182: 108897182
11 EDAR NM_022336.3(EDAR): c.51+1G> A single nucleotide variant Pathogenic rs797044435 GRCh37 Chromosome 2, 109547419: 109547419
12 EDAR NM_022336.3(EDAR): c.51+1G> A single nucleotide variant Pathogenic rs797044435 GRCh38 Chromosome 2, 108930963: 108930963
13 EDAR NM_022336.3(EDAR): c.1124G> A (p.Arg375His) single nucleotide variant Pathogenic rs121908454 GRCh37 Chromosome 2, 109513586: 109513586
14 EDAR NM_022336.3(EDAR): c.1124G> A (p.Arg375His) single nucleotide variant Pathogenic rs121908454 GRCh38 Chromosome 2, 108897130: 108897130
15 EDAR NM_022336.3(EDAR): c.329A> C (p.Asp110Ala) single nucleotide variant Pathogenic rs121908455 GRCh37 Chromosome 2, 109545681: 109545681
16 EDAR NM_022336.3(EDAR): c.329A> C (p.Asp110Ala) single nucleotide variant Pathogenic rs121908455 GRCh38 Chromosome 2, 108929225: 108929225
17 EDAR NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs) deletion Pathogenic rs797044436 GRCh37 Chromosome 2, 109527240: 109527243
18 EDAR NM_022336.3(EDAR): c.719_722delAAGA (p.Lys240Argfs) deletion Pathogenic rs797044436 GRCh38 Chromosome 2, 108910784: 108910787
19 EDAR NM_022336.3(EDAR): c.803+1G> A single nucleotide variant Pathogenic rs797044437 GRCh38 Chromosome 2, 108910459: 108910459
20 EDAR NM_022336.3(EDAR): c.803+1G> A single nucleotide variant Pathogenic rs797044437 GRCh37 Chromosome 2, 109526915: 109526915
21 EDARADD NM_145861.2(EDARADD): c.402_407delAACGGT (p.Thr135_Val136del) deletion Pathogenic rs397515575 GRCh37 Chromosome 1, 236645703: 236645708
22 EDARADD NM_145861.2(EDARADD): c.402_407delAACGGT (p.Thr135_Val136del) deletion Pathogenic rs397515575 GRCh38 Chromosome 1, 236482403: 236482408
23 EDAR NM_022336.3(EDAR): c.1144G> A (p.Gly382Ser) single nucleotide variant Pathogenic rs747806672 GRCh37 Chromosome 2, 109513566: 109513566
24 EDAR NM_022336.3(EDAR): c.1144G> A (p.Gly382Ser) single nucleotide variant Pathogenic rs747806672 GRCh38 Chromosome 2, 108897110: 108897110
25 EDAR NM_022336.3(EDAR): c.870C> T (p.Pro290=) single nucleotide variant Benign rs3749099 GRCh38 Chromosome 2, 108907953: 108907953
26 EDAR NM_022336.3(EDAR): c.870C> T (p.Pro290=) single nucleotide variant Benign rs3749099 GRCh37 Chromosome 2, 109524409: 109524409
27 EDAR NM_022336.3(EDAR): c.822C> A (p.Ser274=) single nucleotide variant Benign/Likely benign rs79648056 GRCh38 Chromosome 2, 108908001: 108908001
28 EDAR NM_022336.3(EDAR): c.822C> A (p.Ser274=) single nucleotide variant Benign/Likely benign rs79648056 GRCh37 Chromosome 2, 109524457: 109524457
29 EDAR NM_022336.3(EDAR): c.319A> G (p.Met107Val) single nucleotide variant Benign/Likely benign rs61761321 GRCh38 Chromosome 2, 108929235: 108929235
30 EDAR NM_022336.3(EDAR): c.319A> G (p.Met107Val) single nucleotide variant Benign/Likely benign rs61761321 GRCh37 Chromosome 2, 109545691: 109545691
31 EDAR NM_022336.3(EDAR): c.68C> T (p.Ser23Leu) single nucleotide variant Uncertain significance rs760731007 GRCh38 Chromosome 2, 108930226: 108930226
32 EDAR NM_022336.3(EDAR): c.68C> T (p.Ser23Leu) single nucleotide variant Uncertain significance rs760731007 GRCh37 Chromosome 2, 109546682: 109546682
33 EDAR NM_022336.3(EDAR): c.903C> A (p.Cys301Ter) single nucleotide variant Pathogenic rs199544410 GRCh37 Chromosome 2, 109524376: 109524376
34 EDAR NM_022336.3(EDAR): c.903C> A (p.Cys301Ter) single nucleotide variant Pathogenic rs199544410 GRCh38 Chromosome 2, 108907920: 108907920
35 EDAR NM_022336.3(EDAR): c.1119G> A (p.Thr373=) single nucleotide variant Likely benign rs144939741 GRCh37 Chromosome 2, 109513591: 109513591
36 EDAR NM_022336.3(EDAR): c.1119G> A (p.Thr373=) single nucleotide variant Likely benign rs144939741 GRCh38 Chromosome 2, 108897135: 108897135
37 EDAR NM_022336.3(EDAR): c.1017C> A (p.Val339=) single nucleotide variant Likely benign rs201434694 GRCh37 Chromosome 2, 109522771: 109522771
38 EDAR NM_022336.3(EDAR): c.1017C> A (p.Val339=) single nucleotide variant Likely benign rs201434694 GRCh38 Chromosome 2, 108906315: 108906315
39 EDAR NM_022336.3(EDAR): c.723G> A (p.Glu241=) single nucleotide variant Benign rs3749108 GRCh37 Chromosome 2, 109527239: 109527239
40 EDAR NM_022336.3(EDAR): c.723G> A (p.Glu241=) single nucleotide variant Benign rs3749108 GRCh38 Chromosome 2, 108910783: 108910783
41 EDAR NM_022336.3(EDAR): c.1132G> A (p.Ala378Thr) single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 109513578: 109513578
42 EDAR NM_022336.3(EDAR): c.1132G> A (p.Ala378Thr) single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 108897122: 108897122
43 EDAR NM_022336.3(EDAR): c.1209G> A (p.Thr403=) single nucleotide variant Likely benign rs200198949 GRCh38 Chromosome 2, 108897045: 108897045
44 EDAR NM_022336.3(EDAR): c.1209G> A (p.Thr403=) single nucleotide variant Likely benign rs200198949 GRCh37 Chromosome 2, 109513501: 109513501
45 EDAR NM_022336.3(EDAR): c.1175C> T (p.Thr392Ile) single nucleotide variant Uncertain significance rs899642068 GRCh38 Chromosome 2, 108897079: 108897079
46 EDAR NM_022336.3(EDAR): c.1175C> T (p.Thr392Ile) single nucleotide variant Uncertain significance rs899642068 GRCh37 Chromosome 2, 109513535: 109513535
47 EDAR NM_022336.3(EDAR): c.1163T> C (p.Ile388Thr) single nucleotide variant Likely pathogenic rs917638291 GRCh38 Chromosome 2, 108897091: 108897091
48 EDAR NM_022336.3(EDAR): c.1163T> C (p.Ile388Thr) single nucleotide variant Likely pathogenic rs917638291 GRCh37 Chromosome 2, 109513547: 109513547
49 EDAR NM_022336.3(EDAR): c.1024+1G> A single nucleotide variant Likely pathogenic GRCh38 Chromosome 2, 108906307: 108906307
50 EDAR NM_022336.3(EDAR): c.1024+1G> A single nucleotide variant Likely pathogenic GRCh37 Chromosome 2, 109522763: 109522763

Expression for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Search GEO for disease gene expression data for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive.

Pathways for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Pathways related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.24 EDAR EDARADD RANBP2
2 10.1 EDAR EDARADD

GO Terms for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Biological processes related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 9.33 EDAR EDARADD WNT10A
2 tumor necrosis factor-mediated signaling pathway GO:0033209 8.96 EDAR EDARADD
3 hair follicle development GO:0001942 8.62 EDAR WNT10A

Sources for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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