MCID: HYP206
MIFTS: 36

Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

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

Aliases & Classifications for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

MalaCards integrated aliases for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

Name: Hypohidrotic Ectodermal Dysplasia Autosomal Recessive 52
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 29 6
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 71
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia 58
Anhidrotic Ectodermal Dysplasia, Autosomal Recessive 52
Autosomal Recessive Anhidrotic Ectodermal Dysplasia 58
Ar-Hed 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive hypohidrotic ectodermal dysplasia
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal;

Classifications:

Orphanet: 58  
Rare eye diseases
Rare skin diseases
Developmental anomalies during embryogenesis
Rare odontological diseases


External Ids:

MESH via Orphanet 44 D053360
ICD10 via Orphanet 33 Q82.4
UMLS via Orphanet 72 C0406702
Orphanet 58 ORPHA248
UMLS 71 C0406702

Summaries for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

MalaCards based summary : Hypohidrotic Ectodermal Dysplasia Autosomal Recessive, also known as autosomal recessive hypohidrotic ectodermal dysplasia syndrome, is related to tooth agenesis and ectodermal dysplasia. An important gene associated with Hypohidrotic Ectodermal Dysplasia Autosomal Recessive is EDAR (Ectodysplasin A Receptor), and among its related pathways/superpathways are NF-kappa B signaling pathway and TNFs bind their physiological receptors. Affiliated tissues include skin and eye, and related phenotypes are dry skin and fine hair

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:

58 31 (show all 11)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 dry skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000958
2 fine hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002213
3 abnormal toenail morphology 58 31 hallmark (90%) Very frequent (99-80%) HP:0008388
4 premature loss of primary teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0006323
5 hypoplasia of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000685
6 abnormal fingernail morphology 31 hallmark (90%) HP:0001231
7 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
8 hypohidrosis 58 31 frequent (33%) Frequent (79-30%) HP:0000966
9 abnormality of dental morphology 58 31 frequent (33%) Frequent (79-30%) HP:0006482
10 abnormality of the fingernails 58 Very frequent (99-80%)
11 abnormality of the hair 58 Very frequent (99-80%)

MGI Mouse Phenotypes related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.5 EDAR EDARADD WNT10A
2 endocrine/exocrine gland MP:0005379 9.43 EDAR EDARADD WNT10A
3 integument MP:0010771 9.33 EDAR EDARADD WNT10A
4 limbs/digits/tail MP:0005371 9.13 EDAR EDARADD WNT10A
5 skeleton MP:0005390 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

Genetic tests related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

# Genetic test Affiliating Genes
1 Autosomal Recessive Hypohidrotic Ectodermal Dysplasia Syndrome 29 EDAR EDARADD

Anatomical Context for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

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

40
Skin, Eye

Publications for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

Articles related to Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

(show all 24)
# Title Authors PMID 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. 6 61
26991760 2016
2
Novel mutations in the EDAR gene in two Pakistani consanguineous families with autosomal recessive hypohidrotic ectodermal dysplasia. 6 61
16029325 2005
3
Unusual presentation of a severe autosomal recessive anhydrotic ectodermal dysplasia with a novel mutation in the EDAR gene. 6
18816645 2008
4
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 6
18231121 2008
5
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 6
17354266 2007
6
A rare case of hypohidrotic ectodermal dysplasia caused by compound heterozygous mutations in the EDAR gene. 6
15373768 2004
7
Hypohidrotic Ectodermal Dysplasia 6
20301291 2003
8
Gene defect in ectodermal dysplasia implicates a death domain adapter in development. 6
11780064 2001
9
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 6
10431241 1999
10
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. 6
9245989 1997
11
A recurrent missense mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia in two consanguineous Kashmiri families. 61
31310406 2019
12
Variants of the ectodysplasin A1 receptor gene underlying homozygous cases of autosomal recessive hypohidrotic ectodermal dysplasia. 61
30623979 2019
13
A novel mutation in the EDAR gene causes severe autosomal recessive hypohidrotic ectodermal dysplasia. 61
24764207 2014
14
Whole-exome sequencing identifies a novel missense mutation in EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia with bilateral amastia and palmoplantar hyperkeratosis. 61
23210707 2013
15
Two novel mutations in the gene EDAR causing autosomal recessive hypohidrotic ectodermal dysplasia. 61
21771270 2011
16
Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia. 61
21332691 2011
17
X-linked and autosomal recessive Hypohidrotic Ectodermal Dysplasia: genotypic-dental phenotypic findings. 61
20236127 2010
18
A compound heterozygous mutation in the EDAR gene in a Spanish family with autosomal recessive hypohidrotic ectodermal dysplasia. 61
20033817 2010
19
A novel splice site mutation in the EDAR gene underlies autosomal recessive hypohidrotic ectodermal dysplasia in a Pakistani family. 61
20199431 2010
20
Recurrent mutations in functionally-related EDA and EDAR genes underlie X-linked isolated hypodontia and autosomal recessive hypohidrotic ectodermal dysplasia. 61
19551394 2009
21
A novel deletion mutation in the EDAR gene in a Pakistani family with autosomal recessive hypohidrotic ectodermal dysplasia. 61
17501952 2007
22
Subtotal amelia in a child with autosomal recessive hypohidrotic ectodermal dysplasia. 61
16246000 2005
23
Autosomal recessive hypohidrotic ectodermal dysplasia with subclinical manifestation in the heterozygote. 61
890117 1977
24
Autosomal recessive hypohidrotic ectodermal dysplasia: dental manifestations. 61
4502148 1972

Variations for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

ClinVar genetic disease variations for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive:

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# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 EDARADD NM_080738.4(EDARADD):c.424G>A (p.Glu142Lys)SNV Pathogenic 4188 rs74315309 1:236645755-236645755 1:236482455-236482455
2 EDAR NM_022336.4(EDAR):c.52-25_52-8deldeletion Pathogenic 5848 rs1558814967 2:109546706-109546723 2:108930250-108930267
3 EDAR NM_022336.4(EDAR):c.266G>A (p.Arg89His)SNV Pathogenic 5849 rs121908450 2:109545744-109545744 2:108929288-108929288
4 EDAR EDAR, DELdeletion Pathogenic 5850
5 EDAR NM_022336.4(EDAR):c.1072C>T (p.Arg358Ter)SNV Pathogenic 5852 rs121908452 2:109513638-109513638 2:108897182-108897182
6 EDAR NM_022336.4(EDAR):c.51+1G>ASNV Pathogenic 5854 rs797044435 2:109547419-109547419 2:108930963-108930963
7 EDAR NM_022336.4(EDAR):c.1124G>A (p.Arg375His)SNV Pathogenic 5855 rs121908454 2:109513586-109513586 2:108897130-108897130
8 EDAR NM_022336.4(EDAR):c.329A>C (p.Asp110Ala)SNV Pathogenic 5856 rs121908455 2:109545681-109545681 2:108929225-108929225
9 EDAR NM_022336.4(EDAR):c.803+1G>ASNV Pathogenic 5860 rs797044437 2:109526915-109526915 2:108910459-108910459
10 EDARADD NM_080738.4(EDARADD):c.372_377del (p.Thr125_Val126del)deletion Pathogenic 65754 rs397515575 1:236645703-236645708 1:236482403-236482408
11 EDAR NM_022336.4(EDAR):c.903C>A (p.Cys301Ter)SNV Pathogenic 449014 rs199544410 2:109524376-109524376 2:108907920-108907920
12 EDAR NM_022336.4(EDAR):c.278G>C (p.Cys93Ser)SNV Pathogenic 522911 rs1553448320 2:109545732-109545732 2:108929276-108929276
13 EDAR NM_022336.4(EDAR):c.1193_1194del (p.Leu397_Phe398insTer)deletion Pathogenic 532547 rs1553443360 2:109513516-109513517 2:108897060-108897061
14 EDAR NM_022336.4(EDAR):c.931G>T (p.Glu311Ter)SNV Pathogenic 569147 rs1432041144 2:109524348-109524348 2:108907892-108907892
15 EDAR NM_022336.4(EDAR):c.1169dup (p.Met391fs)duplication Pathogenic 579211 rs1558793621 2:109513541-109513541 2:108897085-108897085
16 EDAR NM_022336.4(EDAR):c.1089del (p.Tyr364fs)deletion Pathogenic 566967 rs1558793736 2:109513621-109513621 2:108897165-108897165
17 EDAR NM_022336.4(EDAR):c.207delinsTT (p.Gly70fs)indel Pathogenic 633838 rs1558814135 2:109545803-109545803 2:108929347-108929347
18 EDAR NM_022336.4(EDAR):c.1300T>G (p.Trp434Gly)SNV Pathogenic 633839 rs773885029 2:109513410-109513410 2:108896954-108896954
19 EDAR NM_022336.4(EDAR):c.1088del (p.Thr363fs)deletion Pathogenic 643058 2:109513622-109513622 2:108897166-108897166
20 EDAR NM_022336.4(EDAR):c.175-2A>GSNV Likely pathogenic 572701 2:109545837-109545837 2:108929381-108929381
21 EDAR NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)SNV Likely pathogenic 532549 rs557166582 2:109545718-109545718 2:108929262-108929262
22 EDAR NM_022336.4(EDAR):c.1132G>A (p.Ala378Thr)SNV Likely pathogenic 463876 rs1310296844 2:109513578-109513578 2:108897122-108897122
23 EDAR NM_022336.4(EDAR):c.1163T>C (p.Ile388Thr)SNV Likely pathogenic 463877 rs917638291 2:109513547-109513547 2:108897091-108897091
24 EDAR NM_022336.4(EDAR):c.1024+1G>ASNV Likely pathogenic 463874 rs1553444895 2:109522763-109522763 2:108906307-108906307
25 EDAR NM_022336.4(EDAR):c.715_718AAGA[1] (p.Lys240fs)short repeat Likely pathogenic 5859 rs797044436 2:109527240-109527243 2:108910784-108910787
26 EDAR NM_022336.4(EDAR):c.259T>C (p.Cys87Arg)SNV Uncertain significance 5851 rs121908451 2:109545751-109545751 2:108929295-108929295
27 EDAR NM_022336.4(EDAR):c.146C>T (p.Pro49Leu)SNV Uncertain significance 330711 rs375891208 2:109546604-109546604 2:108930148-108930148
28 EDAR NM_022336.4(EDAR):c.68C>T (p.Ser23Leu)SNV Uncertain significance 330712 rs760731007 2:109546682-109546682 2:108930226-108930226
29 EDAR NM_022336.4(EDAR):c.187G>A (p.Gly63Ser)SNV Uncertain significance 532550 rs764223500 2:109545823-109545823 2:108929367-108929367
30 EDAR NM_022336.4(EDAR):c.166C>T (p.Pro56Ser)SNV Uncertain significance 532546 rs1553448523 2:109546584-109546584 2:108930128-108930128
31 EDAR NM_022336.4(EDAR):c.1061_1063AGA[1] (p.Lys355del)short repeat Uncertain significance 650219 2:109513644-109513646 2:108897188-108897190
32 EDAR NM_022336.4(EDAR):c.328G>A (p.Asp110Asn)SNV Uncertain significance 641915 2:109545682-109545682 2:108929226-108929226
33 EDAR NM_022336.4(EDAR):c.122C>A (p.Thr41Lys)SNV Uncertain significance 658733 2:109546628-109546628 2:108930172-108930172
34 EDAR NC_000002.11:g.(?_109367964)_(109579739_?)dupduplication Uncertain significance 657900 2:109367964-109579739 2:108751508-108963283
35 EDAR NC_000002.11:g.(?_109336043)_(109579739_?)dupduplication Uncertain significance 655229 2:109336043-109579739 2:108719587-108963283
36 EDAR NM_022336.4(EDAR):c.1142T>C (p.Phe381Ser)SNV Uncertain significance 657780 2:109513568-109513568 2:108897112-108897112
37 EDAR NM_022336.4(EDAR):c.275A>G (p.Asp92Gly)SNV Uncertain significance 570266 2:109545735-109545735 2:108929279-108929279
38 EDAR NM_022336.4(EDAR):c.1175C>T (p.Thr392Ile)SNV Uncertain significance 463878 rs899642068 2:109513535-109513535 2:108897079-108897079
39 EDAR NM_022336.4(EDAR):c.1209G>A (p.Thr403=)SNV Likely benign 463879 rs200198949 2:109513501-109513501 2:108897045-108897045
40 EDAR NM_022336.4(EDAR):c.1119G>A (p.Thr373=)SNV Likely benign 463875 rs144939741 2:109513591-109513591 2:108897135-108897135
41 EDAR NM_022336.4(EDAR):c.1017C>A (p.Val339=)SNV Likely benign 463873 rs201434694 2:109522771-109522771 2:108906315-108906315
42 EDAR NM_022336.4(EDAR):c.822C>A (p.Ser274=)SNV Benign/Likely benign 261573 rs79648056 2:109524457-109524457 2:108908001-108908001
43 EDAR NM_022336.4(EDAR):c.319A>G (p.Met107Val)SNV Benign/Likely benign 261572 rs61761321 2:109545691-109545691 2:108929235-108929235
44 EDAR NM_022336.4(EDAR):c.870C>T (p.Pro290=)SNV Benign 261574 rs3749099 2:109524409-109524409 2:108907953-108907953
45 EDAR NM_022336.4(EDAR):c.723G>A (p.Glu241=)SNV Benign 463881 rs3749108 2:109527239-109527239 2:108910783-108910783
46 EDAR NM_022336.4(EDAR):c.813T>C (p.Asp271=)SNV Benign 463882 rs3749098 2:109524466-109524466 2:108908010-108908010
47 EDAR NM_022336.4(EDAR):c.43G>A (p.Val15Ile)SNV Benign 463880 rs151195196 2:109547428-109547428 2:108930972-108930972
48 EDAR NM_022336.4(EDAR):c.57T>A (p.Ser19=)SNV Benign 532548 rs28407350 2:109546693-109546693 2:108930237-108930237

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 10.96 EDARADD EDAR
2 10.1 EDARADD EDAR

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 WNT10A EDARADD EDAR
2 positive regulation of gene expression GO:0010628 9.26 WNT10A EDAR
3 tumor necrosis factor-mediated signaling pathway GO:0033209 8.96 EDARADD EDAR
4 hair follicle development GO:0001942 8.62 WNT10A EDAR

Sources for Hypohidrotic Ectodermal Dysplasia Autosomal Recessive

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
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72 UMLS via Orphanet
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