ECTD11B
MCID: ECT058
MIFTS: 33

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 58 76 30 13 6 74
Ectd11b 58 76
Hed 58 76
Eda 58 76
Dysplasia, Ectodermal, Type 11b, Hypohidrotic/hair/tooth, Autosomal Recessive 41
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 74
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 76
Ectodermal Dysplasia, Hypohidrotic; Hed 58
Ectodermal Dysplasia, Anhidrotic; Eda 58
Ectodermal Dysplasia, Hypohidrotic 58
Ectodermal Dysplasia, Anhidrotic 58
Ectodermal Dysplasia Anhidrotic 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



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

OMIM : 58 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)

MalaCards based summary : Ectodermal Dysplasia 11b, Hypohidrotic/hair/tooth Type, Autosomal Recessive, also known as ectd11b, is related to ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema and ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia, 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). Affiliated tissues include skin, eye and liver, and related phenotypes are ectodermal dysplasia and absent nipple

UniProtKB/Swiss-Prot : 76 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 80)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.7
2 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.4
3 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.3
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 11.8
5 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.8
6 tooth agenesis 11.8
7 tooth agenesis, selective, x-linked, 1 11.7
8 ectodermal dysplasia and immunodeficiency 1 11.6
9 craniofrontonasal syndrome 11.5
10 anhidrosis 11.5
11 rapp-hodgkin syndrome 11.5
12 lelis syndrome 11.5
13 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.3
14 hypermobile ehlers-danlos syndrome 11.2
15 goodpasture syndrome 11.1
16 taurodontism 11.1
17 hypothyroidism, central, and testicular enlargement 11.1
18 acute proliferative glomerulonephritis 11.1
19 anodontia 11.1
20 hepatic infarction 11.1
21 sweat gland disease 11.1
22 seminal vesicle adenocarcinoma 11.1
23 orchitis 11.1
24 seminal vesicle tumor 11.1
25 hypotrichosis 11.1
26 anti-basement membrane glomerulonephritis 11.1
27 ectodermal dysplasia 1, hypohidrotic, x-linked 11.1
28 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.1
29 clouston syndrome 11.0
30 ectodermal dysplasia and immunodeficiency 2 11.0
31 hypohidrotic ectodermal dysplasia autosomal recessive 11.0
32 hypohidrotic ectodermal dysplasia with immunodeficiency 11.0
33 ectodermal dysplasia 10.6
34 ameloonychohypohidrotic syndrome 10.5
35 book syndrome 10.5
36 dermatopathia pigmentosa reticularis 10.5
37 dermoodontodysplasia 10.5
38 ectodermal dysplasia, trichoodontoonychial type 10.5
39 naegeli-franceschetti-jadassohn syndrome 10.5
40 witkop syndrome 10.5
41 trichodentoosseous syndrome 10.5
42 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 10.5
43 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 10.5
44 odontoonychodermal dysplasia 10.5
45 moyamoya disease 1 10.4
46 uveitis 10.2
47 keloids 10.1
48 pustulosis of palm and sole 10.1
49 psoriasis 10.1
50 eosinophilia-myalgia syndrome 10.1

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:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 ectodermal dysplasia 33 obligate (100%) HP:0000968
2 absent nipple 33 occasional (7.5%) HP:0002561
3 recurrent respiratory infections 33 HP:0002205
4 depressed nasal bridge 33 HP:0005280
5 everted lower lip vermilion 33 HP:0000232
6 dry skin 33 HP:0000958
7 xerostomia 33 HP:0000217
8 sparse scalp hair 33 HP:0002209
9 hypodontia 33 HP:0000668
10 sparse lateral eyebrow 33 HP:0005338
11 sparse hair 33 HP:0008070
12 hypoplastic nipples 33 HP:0002557
13 anhidrosis 33 HP:0000970
14 sparse eyelashes 33 HP:0000653
15 rhinitis 33 HP:0012384
16 conical tooth 33 HP:0000698
17 abnormality of the forehead 33 HP:0000290
18 periorbital wrinkles 33 HP:0000607
19 abnormal number of teeth 33 HP:0006483

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
recurrent respiratory infections
depressed nasal bridge
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

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 30 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:

42
Skin, Eye, Liver, Spinal Cord, Adrenal Gland

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

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

# 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
Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic. ( 20108402 )
2010
3
Oral and maxillofacial pathology case of the month. Ectodermal dysplasia hypohidrotic. ( 19911623 )
2009
4
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. ( 17354266 )
2007
5
Gene defect in ectodermal dysplasia implicates a death domain adapter in development. ( 11780064 )
2001
6
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. ( 9245989 )
1997

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

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

76
# Symbol AA change Variation ID SNP ID
1 EDARADD p.Glu152Lys VAR_013482 rs74315309

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

6 (show all 16)
# 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 EDARADD NM_145861.2(EDARADD): c.120+1G> A single nucleotide variant Pathogenic rs879255553 GRCh37 Chromosome 1, 236572575: 236572575
4 EDARADD NM_145861.2(EDARADD): c.120+1G> A single nucleotide variant Pathogenic rs879255553 GRCh38 Chromosome 1, 236409275: 236409275
5 EDARADD NM_145861.2(EDARADD): c.308C> T (p.Ser103Phe) single nucleotide variant Benign/Likely benign rs114632254 GRCh37 Chromosome 1, 236645609: 236645609
6 EDARADD NM_145861.2(EDARADD): c.308C> T (p.Ser103Phe) single nucleotide variant Benign/Likely benign rs114632254 GRCh38 Chromosome 1, 236482309: 236482309
7 EDARADD NM_145861.2(EDARADD): c.60G> A (p.Glu20=) single nucleotide variant Benign/Likely benign rs60808129 GRCh37 Chromosome 1, 236557804: 236557804
8 EDARADD NM_145861.2(EDARADD): c.60G> A (p.Glu20=) single nucleotide variant Benign/Likely benign rs60808129 GRCh38 Chromosome 1, 236394504: 236394504
9 EDARADD NM_145861.2(EDARADD): c.417G> A (p.Trp139Ter) single nucleotide variant Likely pathogenic rs954823206 GRCh37 Chromosome 1, 236645718: 236645718
10 EDARADD NM_145861.2(EDARADD): c.417G> A (p.Trp139Ter) single nucleotide variant Likely pathogenic rs954823206 GRCh38 Chromosome 1, 236482418: 236482418
11 EDARADD NM_145861.2(EDARADD): c.393G> A (p.Pro131=) single nucleotide variant Benign rs139996586 GRCh37 Chromosome 1, 236645694: 236645694
12 EDARADD NM_145861.2(EDARADD): c.393G> A (p.Pro131=) single nucleotide variant Benign rs139996586 GRCh38 Chromosome 1, 236482394: 236482394
13 EDARADD NM_145861.2(EDARADD): c.509G> A (p.Arg170Gln) single nucleotide variant Uncertain significance rs757261515 GRCh38 Chromosome 1, 236482510: 236482510
14 EDARADD NM_145861.2(EDARADD): c.509G> A (p.Arg170Gln) single nucleotide variant Uncertain significance rs757261515 GRCh37 Chromosome 1, 236645810: 236645810
15 EDARADD NM_145861.2(EDARADD): c.199A> T (p.Asn67Tyr) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 236427430: 236427430
16 EDARADD NM_145861.2(EDARADD): c.199A> T (p.Asn67Tyr) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 236590730: 236590730

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.

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

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