ECTD11B
MCID: ECT058
MIFTS: 35

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 56 73 29 13 6 71
Ectd11b 56 73
Hed 56 73
Eda 56 73
Dysplasia, Ectodermal, Type 11b, Hypohidrotic/hair/tooth, Autosomal Recessive 39
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive 71
Ectodermal Dysplasia Hypohidrotic Autosomal Recessive 73
Ectodermal Dysplasia, Hypohidrotic; Hed 56
Ectodermal Dysplasia, Anhidrotic; Eda 56
Ectodermal Dysplasia, Hypohidrotic 56
Ectodermal Dysplasia, Anhidrotic 56
Ectodermal Dysplasia Anhidrotic 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive


HPO:

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


Classifications:



External Ids:

OMIM 56 614941
OMIM Phenotypic Series 56 PS305100
UMLS 71 C0406702 C3539920

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

OMIM : 56 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 breast, and related phenotypes are ectodermal dysplasia and absent nipple

UniProtKB/Swiss-Prot : 73 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:

(showing 145, show less)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.8
2 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 12.5
3 ectodermal dysplasia, hypohidrotic, with hypothyroidism and agenesis of the corpus callosum 12.5
4 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 11.9
5 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.9
6 tooth agenesis, selective, x-linked, 1 11.8
7 ectodermal dysplasia and immunodeficiency 1 11.7
8 hypermobile ehlers-danlos syndrome 11.6
9 lelis syndrome 11.6
10 craniofrontonasal syndrome 11.6
11 ectodermal dysplasia and immunodeficiency 2 11.5
12 hypohidrotic ectodermal dysplasia with immunodeficiency 11.5
13 clouston syndrome 11.5
14 rapp-hodgkin syndrome 11.5
15 ectodermal dysplasia 10a, hypohidrotic/hair/nail type, autosomal dominant 11.4
16 hypodontia, x-linked 11.4
17 ectodermal dysplasia 1, hypohidrotic, x-linked 11.2
18 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.2
19 immunodeficiency without anhidrotic ectodermal dysplasia 11.2
20 ehlers-danlos syndrome, hypermobility type 11.1
21 hypohidrotic ectodermal dysplasia autosomal recessive 11.1
22 goodpasture syndrome 11.1
23 alzheimer disease 17 11.1
24 subleukemic leukemia 11.1
25 acute proliferative glomerulonephritis 11.1
26 sweat gland disease 11.1
27 ureteral disease 11.1
28 seminal vesicle adenocarcinoma 11.1
29 blepharoconjunctivitis 11.1
30 orchitis 11.1
31 syringomyelia 11.1
32 anti-basement membrane glomerulonephritis 11.1
33 pompholyx 11.1
34 ectodermal dysplasia 10.6
35 ameloonychohypohidrotic syndrome 10.6
36 ankyloblepharon-ectodermal defects-cleft lip/palate 10.6
37 book syndrome 10.6
38 dermatopathia pigmentosa reticularis 10.6
39 dermoodontodysplasia 10.6
40 ectodermal dysplasia, trichoodontoonychial type 10.6
41 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.6
42 naegeli-franceschetti-jadassohn syndrome 10.6
43 witkop syndrome 10.6
44 trichodentoosseous syndrome 10.6
45 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 10.6
46 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 10.6
47 odontoonychodermal dysplasia 10.6
48 moyamoya disease 1 10.5
49 hidrotic ectodermal dysplasia 2 10.3
50 hair whorl 10.2
51 psoriasis 10.2
52 immune deficiency disease 10.2
53 anhidrosis 10.2
54 ehlers-danlos syndrome 10.2
55 end stage renal failure 10.2
56 fibrosis of extraocular muscles, congenital, 1 10.2
57 pustulosis of palm and sole 10.2
58 taurodontism 10.2
59 rhinitis 10.2
60 erythrokeratoderma ''en cocardes'' 10.2
61 atrophic rhinitis 10.2
62 atherosclerosis susceptibility 10.1
63 attention deficit-hyperactivity disorder 10.1
64 tooth size 10.1
65 learning disability 10.1
66 keloid disorder 10.1
67 sickle cell disease 10.1
68 keratitis, hereditary 10.0
69 pheochromocytoma 10.0
70 triiodothyronine receptor auxiliary protein 10.0
71 incontinentia pigmenti 10.0
72 tooth agenesis 10.0
73 colorectal adenocarcinoma 10.0
74 adrenal gland pheochromocytoma 10.0
75 postural orthostatic tachycardia syndrome 10.0
76 osteopetrosis 10.0
77 anodontia 10.0
78 keratosis 10.0
79 long qt syndrome 10.0
80 hypotrichosis 10.0
81 eye disease 10.0
82 herpes simplex 10.0
83 iridocyclitis 10.0
84 alopecia 10.0
85 lymphosarcoma 10.0
86 mast cell activation syndrome 10.0
87 multiple endocrine neoplasia 10.0
88 familial long qt syndrome 10.0
89 stromal keratitis 10.0
90 colorectal cancer 9.9
91 hepatocellular carcinoma 9.9
92 keloid formation 9.9
93 lacrimoauriculodentodigital syndrome 9.9
94 neurofibromatosis, type iv, of riccardi 9.9
95 vitreoretinopathy, neovascular inflammatory 9.9
96 duodenal atresia 9.9
97 schopf-schulz-passarge syndrome 9.9
98 myelofibrosis 9.9
99 osteogenic sarcoma 9.9
100 sickle cell anemia 9.9
101 allergic rhinitis 9.9
102 anxiety 9.9
103 human immunodeficiency virus type 1 9.9
104 hyperlipoproteinemia, type iii 9.9
105 helix syndrome 9.9
106 deficiency anemia 9.9
107 inflammatory bowel disease 9.9
108 renal fibrosis 9.9
109 oppositional defiant disorder 9.9
110 oral squamous cell carcinoma 9.9
111 hepatocellular adenoma 9.9
112 autism spectrum disorder 9.9
113 adenoid cystic carcinoma 9.9
114 non-alcoholic fatty liver disease 9.9
115 keratoconus 9.9
116 viral meningitis 9.9
117 hemiplegia 9.9
118 coronary artery anomaly 9.9
119 hypercementosis 9.9
120 avoidant personality disorder 9.9
121 personality disorder 9.9
122 squamous cell carcinoma 9.9
123 vascular disease 9.9
124 rectum adenocarcinoma 9.9
125 adenocarcinoma 9.9
126 papillary carcinoma 9.9
127 mood disorder 9.9
128 skin carcinoma 9.9
129 liver disease 9.9
130 congestive heart failure 9.9
131 bronchitis 9.9
132 adenoma 9.9
133 cerebrovascular disease 9.9
134 lung disease 9.9
135 subacute delirium 9.9
136 hard palate cancer 9.9
137 fatty liver disease 9.9
138 bacterial meningitis 9.9
139 meningitis 9.9
140 polymyositis 9.9
141 splenomegaly 9.9
142 spinal cord injury 9.9
143 specific learning disability 9.9
144 regional odontodysplasia 9.9
145 vitreoretinopathy 9.9

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

Symptoms via clinical synopsis from OMIM:

56
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...

Interventional clinical trials:

(showing 3, show less)
# Name Status NCT ID Phase Drugs
1 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
2 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
3 Phenotypic and Genetic Properties in Males at Risk for X-linked Hypohidrotic Ectodermal Dysplasia: Evaluation of an Early Diagnosis Technology and Tests to Assess Nutritional Status Completed NCT01629940

Search 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
Skin, Eye, Breast, Testes

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

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

(showing 10, show less)
# 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 56
26991760 2016
2
Gene defect in ectodermal dysplasia implicates a death domain adapter in development. 6 56
11780064 2001
3
Definitive evidence for an autosomal recessive form of hypohidrotic ectodermal dysplasia clinically indistinguishable from the more common X-linked disorder. 6 56
9245989 1997
4
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 56
20979233 2011
5
Mutations in EDARADD account for a small proportion of hypohidrotic ectodermal dysplasia cases. 56
20222921 2010
6
Autosomal dominant anhidrotic ectodermal dysplasias at the EDARADD locus. 6
17354266 2007
7
Hypohidrotic Ectodermal Dysplasia 6
20301291 2003
8
Using of modified rapid palate expander with miniscrews in a patient affected by ectodermic dysplasia. 61
31173044 2019
9
Novel human pathological mutations. Gene symbol: EDAR. Disease: Ectodermal dysplasia, hypohidrotic. 61
20108402 2010
10
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 (showing 8, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# 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 EDARADD NM_080738.4(EDARADD):c.90+1G>ASNV Pathogenic 253093 rs879255553 1:236572575-236572575 1:236409275-236409275
3 EDARADD NM_145861.3(EDARADD):c.417G>A (p.Trp139Ter)SNV Likely pathogenic 473077 rs954823206 1:236645718-236645718 1:236482418-236482418
4 EDARADD NM_145861.3(EDARADD):c.509G>A (p.Arg170Gln)SNV Uncertain significance 540293 rs757261515 1:236645810-236645810 1:236482510-236482510
5 EDARADD NM_145861.3(EDARADD):c.199A>T (p.Asn67Tyr)SNV Uncertain significance 572712 1:236590730-236590730 1:236427430-236427430
6 EDARADD NM_145861.3(EDARADD):c.308C>T (p.Ser103Phe)SNV Benign/Likely benign 262601 rs114632254 1:236645609-236645609 1:236482309-236482309
7 EDARADD NM_145861.3(EDARADD):c.60G>A (p.Glu20=)SNV Benign/Likely benign 282055 rs60808129 1:236557804-236557804 1:236394504-236394504
8 EDARADD NM_145861.3(EDARADD):c.393G>A (p.Pro131=)SNV Benign 540294 rs139996586 1:236645694-236645694 1:236482394-236482394

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

73 (showing 1, show less)
# 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...

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

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

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