ECTD11B
MCID: ECT058
MIFTS: 42

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

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 12 72 29 13 6 70
Ectd11b 57 12 72
Ectodermal Dysplasia 11b 12 15
Hed 57 72
Eda 57 72
Dysplasia, Ectodermal, Type 11b, Hypohidrotic/hair/tooth, Autosomal Recessive 39
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 70
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 72
Ectodermal Dysplasia, Hypohidrotic; Hed 57
Ectodermal Dysplasia, Anhidrotic; Eda 57
Ectodermal Dysplasia, Hypohidrotic 57
Ectodermal Dysplasia, Anhidrotic 57
Ectodermal Dysplasia Anhidrotic 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0111654
OMIM® 57 614941
OMIM Phenotypic Series 57 PS305100
UMLS 70 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 20-May-2021)

MalaCards based summary : Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as ectd11b, is related to hypohidrotic ectodermal dysplasia autosomal recessive 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 Innate Immune System and Cytokine Signaling in Immune system. Affiliated tissues include eye, liver and skin, and related phenotypes are ectodermal dysplasia and absent nipple

Disease Ontology : 12 A hypohidrotic ectodermal dysplasia that has material basis in homozygous or compound heterozygous mutation in EDARADD on chromosome 1q42-q43.

UniProtKB/Swiss-Prot : 72 Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive: 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.

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 141)
# Related Disease Score Top Affiliating Genes
1 hypohidrotic ectodermal dysplasia autosomal recessive 31.2 EDARADD EDAR
2 pompholyx 31.1 EDAR EDA
3 atrophic rhinitis 31.1 EDARADD EDA
4 tooth agenesis, selective, 1 31.1 PAX9 EDA
5 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 31.0 PAX9 EDARADD EDAR EDA2R EDA
6 sweat gland disease 30.8 EDARADD EDAR EDA
7 hair disease 30.7 EDAR EDA
8 ectodermal dysplasia 1, hypohidrotic, x-linked 30.5 EDARADD EDAR EDA2R EDA
9 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 30.1 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
10 witkop syndrome 30.1 PAX9 EDAR
11 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 29.9 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
12 schopf-schulz-passarge syndrome 29.6 EDARADD EDAR
13 incontinentia pigmenti 29.6 EDAR EDA
14 anhidrosis 29.5 EDARADD EDAR EDA
15 ectodermal dysplasia 29.4 NFKBIB EDARADD EDAR EDA2R EDA
16 ectodermal dysplasia 10b 29.4 PAX9 NFKBIB EDARADD EDAR EDA2R EDA
17 hypotrichosis 29.2 EDARADD EDAR EDA
18 anodontia 28.2 PAX9 EDARADD EDAR EDA2R EDA
19 tooth agenesis 28.2 PAX9 EDARADD EDAR EDA2R EDA
20 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 11.5
21 lelis syndrome 11.4
22 rapp-hodgkin syndrome 11.3
23 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 11.2
24 ectodermal dysplasia and immunodeficiency 1 11.2
25 tooth agenesis, selective, x-linked, 1 11.1
26 craniofrontonasal syndrome 11.0
27 ectodermal dysplasia and immunodeficiency 2 11.0
28 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
29 clouston syndrome 10.9
30 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 10.9
31 immunodeficiency without anhidrotic ectodermal dysplasia 10.9
32 taurodontism 10.9
33 x-linked recessive disease 10.8
34 ameloonychohypohidrotic syndrome 10.3
35 ankyloblepharon-ectodermal defects-cleft lip/palate 10.3
36 book syndrome 10.3
37 dermatopathia pigmentosa reticularis 10.3
38 dermoodontodysplasia 10.3
39 ectodermal dysplasia, trichoodontoonychial type 10.3
40 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.3
41 naegeli-franceschetti-jadassohn 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 hidrotic ectodermal dysplasia 2 10.1
47 hair whorl 10.1
48 fibrosis of extraocular muscles, congenital, 1 10.0
49 pustulosis of palm and sole 10.0
50 psoriasis 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:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 ectodermal dysplasia 31 obligate (100%) HP:0000968
2 absent nipple 31 occasional (7.5%) HP:0002561
3 depressed nasal bridge 31 HP:0005280
4 recurrent respiratory infections 31 HP:0002205
5 everted lower lip vermilion 31 HP:0000232
6 dry skin 31 HP:0000958
7 sparse scalp hair 31 HP:0002209
8 hypodontia 31 HP:0000668
9 sparse body hair 31 HP:0002231
10 sparse lateral eyebrow 31 HP:0005338
11 hypoplastic nipples 31 HP:0002557
12 sparse eyelashes 31 HP:0000653
13 xerostomia 31 HP:0000217
14 anhidrosis 31 HP:0000970
15 conical tooth 31 HP:0000698
16 rhinitis 31 HP:0012384
17 abnormality of the forehead 31 HP:0000290
18 periorbital wrinkles 31 HP:0000607
19 abnormal number of teeth 31 HP:0006483

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
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 20-May-2021)

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


spontaneous, recurrent epistaxis

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 29 EDARADD

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

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

40
Eye, Liver, Skin, Spinal Cord, Heart, Lung, Adrenal Gland

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

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

(show all 11)
# 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 6
26991760 2016
2
Gene defect in ectodermal dysplasia implicates a death domain adapter in development. 57 6
11780064 2001
3
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. 57 6
9245989 1997
4
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 57
20979233 2011
5
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. 57
20222921 2010
6
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 6
17354266 2007
7
The ectodermal dysplasia receptor represses the Lef-1/beta-catenin-dependent transcription independent of NF-kappaB activation. 6
15013427 2004
8
Mutations in the human homologue of mouse dl cause autosomal recessive and dominant hypohidrotic ectodermal dysplasia. 6
10431241 1999
9
Using of modified rapid palate expander with miniscrews in a patient affected by ectodermic dysplasia. 61
31173044 2019
10
Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic. 61
20108402 2010
11
Oral and maxillofacial pathology case of the month. Ectodermal dysplasia hypohidrotic. 61
19911623 2009

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

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

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EDARADD NM_080738.4(EDARADD):c.90+1G>A SNV Pathogenic 253093 rs879255553 GRCh37: 1:236572575-236572575
GRCh38: 1:236409275-236409275
2 EDARADD NM_080738.4(EDARADD):c.424G>A (p.Glu142Lys) SNV Pathogenic 4188 rs74315309 GRCh37: 1:236645755-236645755
GRCh38: 1:236482455-236482455
3 EDARADD NM_145861.4(EDARADD):c.85G>A (p.Glu29Lys) SNV Pathogenic 996824 GRCh37: 1:236572539-236572539
GRCh38: 1:236409239-236409239
4 EDARADD NM_145861.4(EDARADD):c.570C>A (p.Asp190Glu) SNV Pathogenic 996825 GRCh37: 1:236645871-236645871
GRCh38: 1:236482571-236482571
5 EDAR NM_022336.4(EDAR):c.1259G>A (p.Arg420Gln) SNV Likely pathogenic 5853 rs121908453 GRCh37: 2:109513451-109513451
GRCh38: 2:108896995-108896995
6 EDARADD NM_145861.3(EDARADD):c.417G>A (p.Trp139Ter) SNV Likely pathogenic 473077 rs954823206 GRCh37: 1:236645718-236645718
GRCh38: 1:236482418-236482418
7 EDARADD NM_145861.3(EDARADD):c.509G>A (p.Arg170Gln) SNV Uncertain significance 540293 rs757261515 GRCh37: 1:236645810-236645810
GRCh38: 1:236482510-236482510
8 EDARADD NM_145861.3(EDARADD):c.199A>T (p.Asn67Tyr) SNV Uncertain significance 572712 rs751704449 GRCh37: 1:236590730-236590730
GRCh38: 1:236427430-236427430
9 EDARADD NM_145861.4(EDARADD):c.392C>T (p.Pro131Leu) SNV Uncertain significance 843361 GRCh37: 1:236645693-236645693
GRCh38: 1:236482393-236482393
10 EDARADD NM_145861.4(EDARADD):c.568G>A (p.Asp190Asn) SNV Uncertain significance 1055040 GRCh37: 1:236645869-236645869
GRCh38: 1:236482569-236482569
11 EDARADD NM_145861.4(EDARADD):c.440G>T (p.Gly147Val) SNV Uncertain significance 1028539 GRCh37: 1:236645741-236645741
GRCh38: 1:236482441-236482441
12 EDARADD NM_145861.3(EDARADD):c.60G>A (p.Glu20=) SNV Benign 282055 rs60808129 GRCh37: 1:236557804-236557804
GRCh38: 1:236394504-236394504
13 EDARADD NM_145861.3(EDARADD):c.308C>T (p.Ser103Phe) SNV Benign 262601 rs114632254 GRCh37: 1:236645609-236645609
GRCh38: 1:236482309-236482309
14 EDARADD NM_145861.3(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:

72
# 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
13.31 NFKBIB EDARADD EDAR EDA2R EDA
2
Show member pathways
12.67 EDARADD EDAR EDA2R EDA
3
Show member pathways
11.99 NFKBIB EDAR EDA2R EDA
4 11.53 EDA2R EDA
5 11.27 EDARADD EDAR EDA2R EDA
6
Show member pathways
10.84 EDARADD EDAR EDA2R EDA

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

Cellular components 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 apical part of cell GO:0045177 8.62 EDAR EDA

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.71 EDARADD EDAR EDA2R EDA
2 multicellular organism development GO:0007275 9.65 PAX9 EDARADD EDAR EDA2R EDA
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 9.51 EDA2R EDA
4 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.5 EDAR EDA2R EDA
5 epidermis development GO:0008544 9.49 EDAR EDA2R
6 positive regulation of JNK cascade GO:0046330 9.48 EDAR EDA2R
7 odontogenesis of dentin-containing tooth GO:0042475 9.46 EDAR EDA
8 hair follicle development GO:0001942 9.43 EDAR EDA
9 pigmentation GO:0043473 9.37 EDAR EDA
10 salivary gland cavitation GO:0060662 9.16 EDAR EDA
11 positive regulation of NIK/NF-kappaB signaling GO:1901224 9.13 EDARADD EDAR EDA
12 tumor necrosis factor-mediated signaling pathway GO:0033209 8.92 EDARADD EDAR EDA2R EDA

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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