ECTD11B
MCID: ECT058
MIFTS: 41

Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive (ECTD11B)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin diseases
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Aliases & Classifications for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

MalaCards integrated aliases for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

Name: Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 57 11 73 28 5 71
Ectd11b 57 11 73
Ectodermal Dysplasia 11b 11 14
Hed 57 73
Eda 57 73
Dysplasia, Ectodermal, Type 11b, Hypohidrotic/hair/tooth, Autosomal Recessive 38
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 71
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 73
Ectodermal Dysplasia, Hypohidrotic 57
Ectodermal Dysplasia, Anhidrotic 57
Ectodermal Dysplasia Anhidrotic 73

Characteristics:


Inheritance:

Autosomal recessive 57

Classifications:



External Ids:

Disease Ontology 11 DOID:0111654
OMIM® 57 614941
OMIM Phenotypic Series 57 PS305100
UMLS 71 C0406702 C3539920

Summaries for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

OMIM®: 57 Some ectodermal dysplasias are here classified as congenital disorders characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. Hypohidrotic, or anhidrotic, ectodermal dysplasia (HED/EDA) is characterized by a triad of signs comprising sparse hair (hypotrichosis), abnormal or missing teeth (anodontia or hypodontia), and inability to sweat (anhidrosis or hypohidrosis). Typical clinical manifestations also include dryness of the skin, eyes, airways, and mucous membranes presumably due to the defective development of several exocrine glands. Hypohidrotic ectodermal dysplasia can be associated with dysmorphic features (forehead bumps, rings under the eyes, everted nose, and prominent lips) and occasionally with absent nipples (summary by Cluzeau et al., 2011). (614941) (Updated 24-Oct-2022)

MalaCards based summary: Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as ectd11b, is related to ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant and pompholyx, and has symptoms including spontaneous, recurrent epistaxis An important gene associated with Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive is EDARADD (EDAR Associated Death Domain), and among its related pathways/superpathways are Cytokine Signaling in Immune system and TNF Superfamily - Human Ligand-Receptor Interactions and their Associated Functions. Affiliated tissues include skin, and related phenotypes are ectodermal dysplasia and absent nipple

UniProtKB/Swiss-Prot: 73 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.

Disease Ontology: 11 A hypohidrotic ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43.

Related Diseases for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Diseases in the Ectodermal Dysplasia 10b, Hypohidrotic/hair/tooth Type, Autosomal Recessive family:

Ectodermal Dysplasia 11a, Hypohidrotic/hair/tooth Type, Autosomal Dominant Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Diseases related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 197)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 31.9 EDARADD EDAR
2 pompholyx 31.2 EDARADD EDAR
3 sweat gland disease 31.2 EDARADD EDAR
4 ectodermal dysplasia 4, hair/nail type 31.1 EDARADD EDAR
5 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 31.1 RANBP2 EDARADD EDAR EDA2R
6 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.0 WNT10A RANBP2 EDARADD EDAR EDA2R
7 hair disease 31.0 EDARADD EDAR
8 schopf-schulz-passarge syndrome 30.9 WNT10A EDARADD EDAR
9 ectodermal dysplasia 1, hypohidrotic, x-linked 30.8 WNT10A EDARADD EDAR EDA2R
10 ectodermal dysplasia 10b 30.6 EDARADD EDAR EDA2R
11 hypohidrotic ectodermal dysplasia autosomal recessive 30.5 WNT10A RANBP2 EDARADD EDAR
12 anhidrosis 29.8 EDARADD EDAR
13 hypotrichosis 29.3 WNT10A EDARADD EDAR
14 ectodermal dysplasia 29.1 WNT10A RANBP2 EDARADD EDAR EDA2R
15 anodontia 28.7 WNT10A EDARADD EDAR EDA2R
16 tooth agenesis 28.6 WNT10A RANBP2 EDARADD EDAR EDA2R
17 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.5
18 lelis syndrome 11.4
19 rapp-hodgkin syndrome 11.3
20 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 11.3
21 ectodermal dysplasia and immune deficiency 11.3
22 ectodermal dysplasia and immunodeficiency 1 11.2
23 tooth agenesis, selective, x-linked, 1 11.1
24 craniofrontonasal syndrome 11.0
25 clouston syndrome 11.0
26 ectodermal dysplasia and immunodeficiency 2 11.0
27 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
28 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 10.9
29 tooth agenesis, selective, 1 10.9
30 paraurethral gland cancer 10.9
31 toxicodendron dermatitis 10.9
32 atrophic rhinitis 10.9
33 ameloonychohypohidrotic syndrome 10.3
34 ankyloblepharon-ectodermal defects-cleft lip/palate 10.3
35 book syndrome 10.3
36 dermatopathia pigmentosa reticularis 10.3
37 dermoodontodysplasia 10.3
38 ectodermal dysplasia, trichoodontoonychial type 10.3
39 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.3
40 naegeli-franceschetti-jadassohn syndrome 10.3
41 witkop syndrome 10.3
42 trichodentoosseous syndrome 10.3
43 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 10.3
44 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 10.3
45 odontoonychodermal dysplasia 10.3
46 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.2
47 hair whorl 10.1
48 end stage renal disease 10.1
49 psoriasis 10.1
50 psoriasis 1 10.0

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:



Diseases related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Symptoms & Phenotypes for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Human phenotypes related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ectodermal dysplasia 30 Obligate (100%) HP:0000968
2 absent nipple 30 Occasional (7.5%) HP:0002561
3 recurrent respiratory infections 30 Very rare (1%) HP:0002205
4 dry skin 30 Very rare (1%) HP:0000958
5 sparse scalp hair 30 Very rare (1%) HP:0002209
6 hypodontia 30 Very rare (1%) HP:0000668
7 absent eyelashes 30 Very rare (1%) HP:0000561
8 xerostomia 30 Very rare (1%) HP:0000217
9 absent eyebrow 30 Very rare (1%) HP:0002223
10 rhinitis 30 Very rare (1%) HP:0012384
11 depressed nasal bridge 30 HP:0005280
12 everted lower lip vermilion 30 HP:0000232
13 sparse body hair 30 HP:0002231
14 sparse lateral eyebrow 30 HP:0005338
15 hypoplastic nipples 30 HP:0002557
16 sparse eyelashes 30 HP:0000653
17 anhidrosis 30 HP:0000970
18 conical tooth 30 HP:0000698
19 periorbital wrinkles 30 HP:0000607

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Head And Neck Nose:
depressed nasal bridge
recurrent respiratory infections
atrophic rhinitis
recurrent nosebleeds

Head And Neck Teeth:
hypodontia
conical teeth
peg-shaped teeth
no eruption of permanent teeth (in some patients)

Head And Neck Eyes:
sparse eyelashes
sparse lateral eyebrows
periorbital wrinkling
hyperpigmented periorbital skin

Head And Neck Face:
hyperpigmented skin on forehead, cheeks, and chin

Skin Nails Hair Skin Histology:
no evidence of sweat glands
no hair follicle formation

Skin Nails Hair Hair:
sparse scalp hair
sparse eyelashes
sparse lateral eyebrows
sparse to absent body hair

Chest Breasts:
hypoplastic nipples
hypoplastic breasts

Head And Neck Mouth:
dry mouth

Skin Nails Hair Skin:
smooth dry skin
total absence of sweating

Clinical features from OMIM®:

614941 (Updated 24-Oct-2022)

UMLS symptoms related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:


spontaneous, recurrent epistaxis

MGI Mouse Phenotypes related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 endocrine/exocrine gland MP:0005379 8.92 EDAR EDARADD RANBP2 WNT10A

Drugs & Therapeutics for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Search Clinical Trials, NIH Clinical Center for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive

Genetic Tests for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Genetic tests related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

# Genetic test Affiliating Genes
1 Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive 28 EDARADD

Anatomical Context for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Organs/tissues related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

MalaCards : Skin

Publications for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Articles related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

(show all 19)
# 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. 57 5
26991760 2016
2
Gene defect in ectodermal dysplasia implicates a death domain adapter in development. 57 5
11780064 2001
3
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. 57 5
9245989 1997
4
Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints. 5
25640679 2015
5
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 57
20979233 2011
6
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. 57
20222921 2010
7
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 5
17354266 2007
8
The ectodermal dysplasia receptor represses the Lef-1/beta-catenin-dependent transcription independent of NF-kappaB activation. 5
15013427 2004
9
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 5
10431241 1999
10
Successful Allogeneic Stem Cell Transplantation in Nuclear Factor-Kappa B Essential Modulator Deficiency Syndrome After Treosulfan-Based Conditioning: A Case Report. 62
32035679 2020
11
Using of modified rapid palate expander with miniscrews in a patient affected by ectodermic dysplasia. 62
31173044 2019
12
NEMO Links Nuclear Factor-κB to Human Diseases. 62
29128367 2017
13
Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic. 62
20108402 2010
14
Oral and maxillofacial pathology case of the month. Ectodermal dysplasia hypohidrotic. 62
19911623 2009
15
Gene Symbol: ED1. Disease: Ectodermal dysplasia, anhidrotic. 62
15176392 2004
16
[Ectodermal dysplasia syndrome]. 62
12784514 2003
17
Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12. 62
2877938 1986
18
Congenital ectodermal dysplasia, anhidrotic, with palatal paralysis and associated chromosome abnormality. Case report. 62
5820255 1969
19
Ectodermal dysplasia, anhidrotic type; report of case. 62
18891940 1948

Variations for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

ClinVar genetic disease variations for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

5 (show all 24)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDARADD NM_145861.4(EDARADD):c.120+1G>A SNV Pathogenic
253093 rs879255553 GRCh37: 1:236572575-236572575
GRCh38: 1:236409275-236409275
2 EDARADD NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) SNV Pathogenic
996824 rs1657345576 GRCh37: 1:236572539-236572539
GRCh38: 1:236409239-236409239
3 EDARADD NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) SNV Pathogenic
996825 rs200017138 GRCh37: 1:236645871-236645871
GRCh38: 1:236482571-236482571
4 EDARADD NM_145861.4(EDARADD):c.454G>A (p.Glu152Lys) SNV Pathogenic
4188 rs74315309 GRCh37: 1:236645755-236645755
GRCh38: 1:236482455-236482455
5 EDARADD NC_000001.10:g.(?_236631511)_(236631596_?)dup DUP Likely Pathogenic
1347024 GRCh37: 1:236631511-236631596
GRCh38:
6 RANBP2, EDAR NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) SNV Likely Pathogenic
5853 rs121908453 GRCh37: 2:109513451-109513451
GRCh38: 2:108896995-108896995
7 EDARADD NM_145861.4(EDARADD):c.417G>A (p.Trp139Ter) SNV Likely Pathogenic
473077 rs954823206 GRCh37: 1:236645718-236645718
GRCh38: 1:236482418-236482418
8 EDARADD NM_145861.4(EDARADD):c.509G>A (p.Arg170Gln) SNV Uncertain Significance
540293 rs757261515 GRCh37: 1:236645810-236645810
GRCh38: 1:236482510-236482510
9 EDARADD NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) SNV Uncertain Significance
843361 rs1005957166 GRCh37: 1:236645693-236645693
GRCh38: 1:236482393-236482393
10 EDARADD NM_145861.4(EDARADD):c.446C>T (p.Ser149Phe) SNV Uncertain Significance
1439044 GRCh37: 1:236645747-236645747
GRCh38: 1:236482447-236482447
11 EDARADD NC_000001.10:g.(?_236631511)_(236645949_?)dup DUP Uncertain Significance
1514540 GRCh37: 1:236631511-236645949
GRCh38:
12 EDARADD NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) SNV Uncertain Significance
1028539 rs1659704734 GRCh37: 1:236645741-236645741
GRCh38: 1:236482441-236482441
13 EDARADD NM_145861.4(EDARADD):c.199A>T (p.Asn67Tyr) SNV Uncertain Significance
572712 rs751704449 GRCh37: 1:236590730-236590730
GRCh38: 1:236427430-236427430
14 EDARADD NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) SNV Uncertain Significance
1055040 GRCh37: 1:236645869-236645869
GRCh38: 1:236482569-236482569
15 EDARADD NM_145861.4(EDARADD):c.358_359delinsAT (p.Asp120Ile) INDEL Uncertain Significance
1354328 GRCh37: 1:236645659-236645660
GRCh38: 1:236482359-236482360
16 EDARADD NM_145861.4(EDARADD):c.121-19C>T SNV Benign
1529213 GRCh37: 1:236577541-236577541
GRCh38: 1:236414241-236414241
17 EDARADD NM_145861.4(EDARADD):c.161-6dup DUP Benign
1598577 GRCh37: 1:236590675-236590676
GRCh38: 1:236427375-236427376
18 EDARADD NM_145861.4(EDARADD):c.308C>T (p.Ser103Phe) SNV Benign
262601 rs114632254 GRCh37: 1:236645609-236645609
GRCh38: 1:236482309-236482309
19 EDARADD NM_145861.4(EDARADD):c.369C>T (p.Asp123=) SNV Benign
262602 rs604070 GRCh37: 1:236645670-236645670
GRCh38: 1:236482370-236482370
20 EDARADD NM_145861.4(EDARADD):c.27G>A (p.Met9Ile) SNV Benign
Benign
262600 rs966365 GRCh37: 1:236557771-236557771
GRCh38: 1:236394471-236394471
21 EDARADD NM_145861.4(EDARADD):c.62-41A>G SNV Benign
1255368 GRCh37: 1:236572475-236572475
GRCh38: 1:236409175-236409175
22 EDARADD NM_145861.4(EDARADD):c.161-33G>C SNV Benign
1255369 GRCh37: 1:236590659-236590659
GRCh38: 1:236427359-236427359
23 EDARADD NM_145861.4(EDARADD):c.60G>A (p.Glu20=) SNV Benign
282055 rs60808129 GRCh37: 1:236557804-236557804
GRCh38: 1:236394504-236394504
24 EDARADD NM_145861.4(EDARADD):c.393G>A (p.Pro131=) SNV Benign
540294 rs139996586 GRCh37: 1:236645694-236645694
GRCh38: 1:236482394-236482394

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive:

73
# Symbol AA change Variation ID SNP ID
1 EDARADD p.Glu152Lys VAR_013482 rs74315309

Expression for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Search GEO for disease gene expression data for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive.

Pathways for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Pathways related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.34 RANBP2 EDARADD EDAR EDA2R
2
Show member pathways
11.87 EDARADD EDAR EDA2R
3 9.66 EDARADD EDAR

GO Terms for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

Biological processes related to Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 epidermis development GO:0008544 9.46 EDAR EDA2R
2 positive regulation of JNK cascade GO:0046330 9.26 EDAR EDA2R
3 hair follicle development GO:0001942 8.92 WNT10A EDAR

Sources for Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal...

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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