MCID: ECT058
MIFTS: 29

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

Categories: Genetic diseases, Rare diseases, Eye diseases, Skin diseases, Fetal diseases, Oral diseases, Bone 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 75 29 13 6 73
Ectd11b 57 75
Hed 57 75
Eda 57 75
Dysplasia, Ectodermal, Type 11b, Hypohidrotic/hair/tooth, Autosomal Recessive 40
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 73
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 75
Ectodermal Dysplasia, Hypohidrotic; Hed 57
Ectodermal Dysplasia, Anhidrotic; Eda 57
Ectodermal Dysplasia, Hypohidrotic 57
Ectodermal Dysplasia, Anhidrotic 57
Ectodermal Dysplasia Anhidrotic 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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 : 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). For a discussion of genetic heterogeneity of hypohidrotic/anhidrotic ectodermal dysplasia, see 305100. (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, anhidrotic, with t-cell immunodeficiency, autosomal dominant, 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 breast, and related phenotypes are xerostomia and everted lower lip vermilion

UniProtKB/Swiss-Prot : 75 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...

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 xerostomia 32 HP:0000217
2 everted lower lip vermilion 32 HP:0000232
3 abnormality of the forehead 32 HP:0000290
4 abnormality of the nose 32 HP:0000366
5 periorbital wrinkles 32 HP:0000607
6 sparse eyelashes 32 HP:0000653
7 hypodontia 32 HP:0000668
8 conical tooth 32 HP:0000698
9 dry skin 32 HP:0000958
10 ectodermal dysplasia 32 obligate (100%) HP:0000968
11 anhidrosis 32 HP:0000970
12 recurrent respiratory infections 32 HP:0002205
13 sparse scalp hair 32 HP:0002209
14 hypoplastic nipples 32 HP:0002557
15 absent nipple 32 occasional (7.5%) HP:0002561
16 depressed nasal bridge 32 HP:0005280
17 sparse lateral eyebrow 32 HP:0005338
18 abnormal number of teeth 32 HP:0006483
19 sparse hair 32 HP:0008070

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:

41
Skin, Eye, Breast

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
Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic. ( 20108402 )
2010
2
Oral and maxillofacial pathology case of the month. Ectodermal dysplasia hypohidrotic. ( 19911623 )
2009

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:

75
# 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 14)
# 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

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...

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

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

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
Content
Loading form....