MCID: ECT070
MIFTS: 45

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Categories: Genetic diseases, Eye diseases, Skin diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

MalaCards integrated aliases for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked:

Name: Ectodermal Dysplasia 1, Hypohidrotic, X-Linked 57 75 13
Christ-Siemens-Touraine Syndrome 57 59 75 73
Xhed 57 59 75
Ectodermal Dysplasia 1 57 75
Cst Syndrome 57 75
Ectd1 57 75
Xlhed 57 75
Eda1 57 75
Eda 57 75
Ed1 57 75
Ectodermal Dysplasia 1, Hypohidrotic/hair/tooth Type, X-Linked; Ectd1 57
Ectodermal Dysplasia 1, Hypohidrotic/hair/tooth Type, X-Linked 57
Ectodermal Dysplasia 1 Hypohidrotic/hair/tooth Type X-Linked 75
Dysplasia, Ectodermal, Type 1, Hypohidrotic, X-Linked 40
Ectodermal Dysplasia, Anhidrotic, X-Linked; Eda 57
Ectodermal Dysplasia, Hypohidrotic, 1; Hed1 57
Ectodermal Dysplasia, Anhidrotic, X-Linked 57
X-Linked Hypohidrotic Ectodermal Dysplasia 59
X-Linked Anhidrotic Ectodermal Dysplasia 59
Ectodermal Dysplasia, Hypohidrotic, 1 57
Ectodermal Dysplasia Anhidrotic 75
Ectodermal Dysplasia 1; Ed1 57
Hed1 57

Characteristics:

Orphanet epidemiological data:

59
x-linked hypohidrotic ectodermal dysplasia
Inheritance: X-linked recessive; Prevalence: 1-9/1000000 (Europe); Age of onset: Infancy; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
x-linked recessive

Miscellaneous:
heterozygous females show variable expressivity (mild to severe manifestations) including hypodontia, conical teeth, reduction in scalp/body hair, and difficulty nursing
genetic heterogeneity (autosomal recessive form )


HPO:

32
ectodermal dysplasia 1, hypohidrotic, x-linked:
Inheritance heterogeneous x-linked recessive inheritance


Classifications:



Summaries for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

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. Ectodermal dysplasia-1, due to mutation in the EDA gene, is the most frequent form of hypohidrotic ectodermal dysplasia (summary by Cluzeau et al., 2011). (305100)

MalaCards based summary : Ectodermal Dysplasia 1, Hypohidrotic, X-Linked, also known as christ-siemens-touraine syndrome, is related to ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive and ectodermal dysplasia, and has symptoms including dyspnea, dry skin and koilonychia. An important gene associated with Ectodermal Dysplasia 1, Hypohidrotic, X-Linked is EDA (Ectodysplasin A), and among its related pathways/superpathways are Development Angiotensin activation of ERK and Ectoderm Differentiation. The drugs Anesthetics and Anesthetics, Local have been mentioned in the context of this disorder. Affiliated tissues include skin, eye and testes, and related phenotypes are frontal bossing and everted lower lip vermilion

UniProtKB/Swiss-Prot : 75 Ectodermal dysplasia 1, hypohidrotic, X-linked: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. Characterized by sparse hair (atrichosis or hypotrichosis), abnormal or missing teeth and the inability to sweat due to the absence of sweat glands. It is the most common form of over 150 clinically distinct ectodermal dysplasias.

Related Diseases for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Diseases related to Ectodermal Dysplasia 1, Hypohidrotic, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 30.9 EDA EDA2R
2 ectodermal dysplasia 28.7 EDA EDA2R
3 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 12.5
4 ectodermal dysplasia, anhidrotic, with t-cell immunodeficiency, autosomal dominant 12.5
5 tooth agenesis 9.0 EDA EDA2R

Graphical network of the top 20 diseases related to Ectodermal Dysplasia 1, Hypohidrotic, X-Linked:



Diseases related to Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Symptoms & Phenotypes for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
frontal bossing
prominent supraorbital ridges
hypoplastic maxilla
small chin
small facial height

Skin Nails Hair Skin:
dry skin
hypohidrosis
eczema
anhidrosis
periorbital hyperpigmentation
more
Respiratory:
respiratory difficulties

Head And Neck Mouth:
prominent lips
decreased palatal depth

Skin Nails Hair Nails:
spoon-shaped nails

Head And Neck Head:
small cranial length

Respiratory Larynx:
atrophic mucosa causing dysphonia

Voice:
hoarse voice due to dry laryngeal mucosa

Head And Neck Teeth:
microdontia
hypodontia
taurodontism
conical teeth
adontia

Skin Nails Hair Hair:
hypotrichosis
fine, brittle hair
scanty hair
absent or scanty eyelashes
absent or scanty eyebrows
more
Head And Neck Nose:
small nose
hypoplastic alae nasi
nasal mucosa atrophy
ozena
depressed nasal root and bridge ('saddle nose')

Head And Neck Eyes:
periorbital wrinkles
periorbital hyperpigmentation
absent tears
absent miebomian glands
scant-absent eyebrows
more
Metabolic Features:
susceptible to hyperthermia
intolerance to heat and fevers

Respiratory Nasopharynx:
atrophic rhinitis
atrophic pharyngeal mucosa
hypoplastic or absent mucous glands which may lead to dried secretions and obstruction

Chest Breasts:
hypoplastic-absent mammary glands
hypoplastic-absent nipples


Clinical features from OMIM:

305100

Human phenotypes related to Ectodermal Dysplasia 1, Hypohidrotic, X-Linked:

59 32 (show all 47)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 Frequent (79-30%) HP:0002007
2 everted lower lip vermilion 59 32 Very frequent (99-80%) HP:0000232
3 microdontia 59 32 Very frequent (99-80%) HP:0000691
4 hypohidrosis 59 32 Very frequent (99-80%) HP:0000966
5 hypotrichosis 59 32 Very frequent (99-80%) HP:0001006
6 everted upper lip vermilion 59 32 Very frequent (99-80%) HP:0010803
7 hypertension 59 Occasional (29-5%)
8 dysphonia 32 HP:0001618
9 prominent supraorbital ridges 32 HP:0000336
10 depressed nasal bridge 32 HP:0005280
11 short nose 32 HP:0003196
12 thick vermilion border 32 HP:0012471
13 fever 32 HP:0001945
14 type i diabetes mellitus 59 Occasional (29-5%)
15 delayed eruption of teeth 59 Very frequent (99-80%)
16 respiratory distress 32 HP:0002098
17 thin skin 32 HP:0000963
18 dry skin 32 HP:0000958
19 anterior hypopituitarism 59 Occasional (29-5%)
20 underdeveloped nasal alae 32 HP:0000430
21 depressed nasal ridge 59 Very frequent (99-80%)
22 hypoplasia of the maxilla 32 HP:0000327
23 taurodontia 32 HP:0000679
24 eczema 32 HP:0000964
25 hypodontia 32 HP:0000668
26 hoarse voice 32 HP:0001609
27 sparse body hair 59 Very frequent (99-80%)
28 short distal phalanx of finger 59 Occasional (29-5%)
29 aplasia/hypoplasia of the eyebrow 59 Very frequent (99-80%)
30 hypoplastic nipples 32 HP:0002557
31 anhidrosis 32 HP:0000970
32 concave nail 32 HP:0001598
33 sparse eyelashes 32 HP:0000653
34 absent eyebrow 32 HP:0002223
35 conical tooth 32 HP:0000698
36 absent nipple 32 HP:0002561
37 brittle hair 32 HP:0002299
38 aplasia/hypoplastia of the eccrine sweat glands 32 HP:0007592
39 heat intolerance 32 HP:0002046
40 short chin 32 HP:0000331
41 soft skin 32 HP:0000977
42 periorbital wrinkles 32 HP:0000607
43 periorbital hyperpigmentation 32 HP:0001106
44 hypohidrotic ectodermal dysplasia 32 HP:0007607
45 hypoplastic-absent sebaceous glands 32 HP:0007411
46 sparse and thin eyebrow 32 HP:0000535
47 abnormal oral mucosa morphology 32 HP:0011830

UMLS symptoms related to Ectodermal Dysplasia 1, Hypohidrotic, X-Linked:


dyspnea, dry skin, koilonychia

Drugs & Therapeutics for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Drugs for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics Not Applicable
2 Anesthetics, Local Not Applicable

Interventional clinical trials:

(show all 19)
# Name Status NCT ID Phase Drugs
1 Pivotal Study (Pharmacokinetics, Efficacy, Safety) of BAX 326 (rFIX) in Hemophilia B Patients Completed NCT01174446 Phase 3
2 Phase 2 Study to Evaluate Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200 in Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2 EDI200
3 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200 Completed NCT01564225 Phase 1 EDI200
4 Sonography in Hypotension and Cardiac Arrest in the Emergency Department. Unknown status NCT01419106 Not Applicable
5 Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
6 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia - A Completed NCT01293565
7 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
8 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
9 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
10 X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Carrier Outlook Toward Reproduction Survey Completed NCT01398813
11 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia Completed NCT01135888
12 Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia Completed NCT01109290
13 Investigation of Chronic Inflammatory Processes in Male Individuals With Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
14 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
15 Phenotypic Properties in Individuals Affected With XLHED Completed NCT01871714
16 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia Completed NCT01108770
17 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
18 EDICT - Exercise inDuced Changes In Colorectal Cancer Tissues Completed NCT02056691 Not Applicable
19 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200

Search NIH Clinical Center for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Genetic Tests for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Anatomical Context for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

MalaCards organs/tissues related to Ectodermal Dysplasia 1, Hypohidrotic, X-Linked:

41
Skin, Eye, Testes

Publications for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Articles related to Ectodermal Dysplasia 1, Hypohidrotic, X-Linked:

(show all 14)
# Title Authors Year
1
Non-invasive diagnosis of sweat gland dysplasia using optical coherence tomography and reflectance confocal microscopy in a family with anhidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). ( 25758344 )
2015
2
Christ Siemens Touraine syndrome: Two case reports and felicitous approaches to prosthetic management. ( 26097372 )
2015
3
First report of hereditary Christ-Siemens-Touraine syndrome and non-segmental vitiligo association in a young adult: contraindication for vitiligo treatment. ( 25339629 )
2014
4
A newly identified missense mutation of the EDA1 gene in a Hungarian patient with Christ-Siemens-Touraine syndrome. ( 23989902 )
2014
5
Total anodontia in patient with hypohidrotic ectodermal dysplasia. Report of rare case of Christ-Siemens Touraine syndrome. ( 21417166 )
2011
6
Case for diagnosis: (Ectodermal dysplasia: Christ-Siemens-Touraine syndrome). ( 19503990 )
2009
7
What syndrome is this? Christ-Siemens-Touraine syndrome (anhidrotic/hypohidrotic ectodermal dysplasia). ( 16918642 )
2006
8
Anhydrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). A case report. ( 15880963 )
2005
9
Gastrointestinal complaints in individuals with hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). National Foundation for Ectodermal Dysplasias. ( 7501571 )
1995
10
Hypohidrotic ectodermal dysplasia: argument against an autosomal recessive form clinically indistinguishable from X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome) ( 2748478 )
1989
11
Scaling skin in the neonate: a clue to the early diagnosis of X-linked hypohidrotic ectodermal dysplasia (Christ-Siemens-Touraine syndrome). The Executive and Scientific Advisory Boards of the National Foundation for Ectodermal Dysplasias, Mascoutah, Illinois. ( 2926570 )
1989
12
Anhidrosis and absence of sweat glands in mice hemizygous for the Tabby gene: supportive evidence for the hypothesis of homology between Tabby and human anhidrotic (hypohidrotic) ectodermal dysplasia (Christ-Siemens-Touraine syndrome). ( 3782855 )
1986
13
[Christ-Siemens-Touraine syndrome. Completed management is unrelated to the number of years]. ( 3858948 )
1985
14
Carrier detection in Christ-Siemens-Touraine syndrome (X-linked hypohidrotic ectodermal dysplasia) ( 7201742 )
1982

Variations for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked:

75 (show top 50) (show all 60)
# Symbol AA change Variation ID SNP ID
1 EDA p.Tyr61His VAR_005179 rs132630308
2 EDA p.Glu63Lys VAR_005180 rs132630311
3 EDA p.Arg69Leu VAR_005181 rs132630309
4 EDA p.Arg155Cys VAR_005182 rs132630312
5 EDA p.Arg156Cys VAR_005183 rs132630313
6 EDA p.Arg156His VAR_005184 rs132630314
7 EDA p.Pro209Leu VAR_005185 rs132630315
8 EDA p.Gly224Ala VAR_005186 rs132630316
9 EDA p.His252Leu VAR_005187 rs879255552
10 EDA p.Gly299Ser VAR_005188 rs397516679
11 EDA p.Ala349Thr VAR_005189 rs132630317
12 EDA p.Ala356Asp VAR_005190
13 EDA p.Arg357Pro VAR_005191 rs61747506
14 EDA p.His54Tyr VAR_010611
15 EDA p.Leu55Arg VAR_010612
16 EDA p.Gly291Arg VAR_010613 rs397516677
17 EDA p.Gly291Trp VAR_010614
18 EDA p.Asp298His VAR_010615
19 EDA p.Gly255Cys VAR_011077
20 EDA p.Gly255Asp VAR_011078
21 EDA p.Trp274Gly VAR_011079
22 EDA p.Cys332Tyr VAR_011080
23 EDA p.Cys60Arg VAR_013484
24 EDA p.His252Tyr VAR_013485
25 EDA p.Gly269Val VAR_013486
26 EDA p.Phe302Ser VAR_013487
27 EDA p.Thr378Met VAR_013488
28 EDA p.Arg153Cys VAR_054454 rs397516662
29 EDA p.Arg156Ser VAR_054455
30 EDA p.Lys158Asn VAR_054456 rs727504649
31 EDA p.Gly189Glu VAR_054460
32 EDA p.Gly198Ala VAR_054462
33 EDA p.Gly207Arg VAR_054463
34 EDA p.Gly218Asp VAR_054464
35 EDA p.Asp298Tyr VAR_054466
36 EDA p.Gln306His VAR_054467
37 EDA p.Val307Gly VAR_054468
38 EDA p.Tyr320Cys VAR_054469
39 EDA p.Tyr343Cys VAR_054470
40 EDA p.Gln358Glu VAR_054471 rs132630320
41 EDA p.Ile360Asn VAR_054472
42 EDA p.Asn372Asp VAR_054473
43 EDA p.Met373Ile VAR_054474
44 EDA p.Ser374Arg VAR_054475
45 EDA p.Thr378Pro VAR_054476
46 EDA p.Arg156Gly VAR_064858
47 EDA p.Gly207Val VAR_064860
48 EDA p.Thr211Arg VAR_064861
49 EDA p.Leu266Arg VAR_064862
50 EDA p.Trp274Arg VAR_064863

ClinVar genetic disease variations for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked:

6
(show top 50) (show all 89)
# Gene Variation Type Significance SNP ID Assembly Location
1 EDA EDA, 36-BP DEL, EX5 deletion Pathogenic
2 EDA NM_001399.4(EDA): c.181T> C (p.Tyr61His) single nucleotide variant Likely pathogenic rs132630308 GRCh37 Chromosome X, 68836333: 68836333
3 EDA NM_001399.4(EDA): c.181T> C (p.Tyr61His) single nucleotide variant Likely pathogenic rs132630308 GRCh38 Chromosome X, 69616489: 69616489
4 EDA NM_001399.4(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 GRCh37 Chromosome X, 68836219: 68836219
5 EDA NM_001399.4(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 GRCh38 Chromosome X, 69616375: 69616375
6 EDA NM_001399.4(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 GRCh37 Chromosome X, 68836339: 68836339
7 EDA NM_001399.4(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 GRCh38 Chromosome X, 69616495: 69616495
8 EDA NM_001399.4(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 GRCh37 Chromosome X, 69176943: 69176943
9 EDA NM_001399.4(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 GRCh38 Chromosome X, 69957093: 69957093
10 EDA NM_001399.4(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 GRCh37 Chromosome X, 69176946: 69176946
11 EDA NM_001399.4(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 GRCh38 Chromosome X, 69957096: 69957096
12 EDA NM_001399.4(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 GRCh37 Chromosome X, 69176947: 69176947
13 EDA NM_001399.4(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 GRCh38 Chromosome X, 69957097: 69957097
14 EDA NM_001399.4(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 GRCh37 Chromosome X, 69247851: 69247851
15 EDA NM_001399.4(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 GRCh38 Chromosome X, 70028001: 70028001
16 EDA NM_001399.4(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 GRCh37 Chromosome X, 69255328: 69255328
17 EDA NM_001399.4(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 GRCh38 Chromosome X, 70035478: 70035478
18 EDA NM_001399.4(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 GRCh37 Chromosome X, 68836335: 68836335
19 EDA NM_001399.4(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 GRCh38 Chromosome X, 69616491: 69616491
20 EDA EDA, 1-BP DEL, EX6 deletion Pathogenic
21 EDA EDA, 1-BP INS, 573T insertion Pathogenic
22 EDA EDA, 2-BP INS, 913TA insertion Pathogenic
23 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh37 Chromosome X, 69253280: 69253280
24 EDA NM_001399.4(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 GRCh38 Chromosome X, 70033430: 70033430
25 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh37 Chromosome X, 69255377: 69255377
26 EDA NM_001399.4(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 GRCh38 Chromosome X, 70035527: 70035527
27 EDA NM_001399.4(EDA): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs397516662 GRCh37 Chromosome X, 69176937: 69176937
28 EDA NM_001399.4(EDA): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs397516662 GRCh38 Chromosome X, 69957087: 69957087
29 EDA NM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del) deletion Pathogenic rs397516668 GRCh37 Chromosome X, 69247752: 69247769
30 EDA NM_001399.4(EDA): c.572_589del18 (p.Pro191_Pro196del) deletion Pathogenic rs397516668 GRCh38 Chromosome X, 70027902: 70027919
31 EDA NM_001399.4(EDA): c.663_697del35 (p.Pro222Thrfs) deletion Pathogenic rs397516670 GRCh37 Chromosome X, 69247843: 69247877
32 EDA NM_001399.4(EDA): c.663_697del35 (p.Pro222Thrfs) deletion Pathogenic rs397516670 GRCh38 Chromosome X, 70027993: 70028027
33 EDA NM_001399.4(EDA): c.396+2T> C single nucleotide variant Pathogenic rs727504814 GRCh37 Chromosome X, 68836550: 68836550
34 EDA NM_001399.4(EDA): c.396+2T> C single nucleotide variant Pathogenic rs727504814 GRCh38 Chromosome X, 69616706: 69616706
35 EDA NM_001399.4(EDA): c.659_676del18 (p.Pro220_Pro225del) deletion Pathogenic/Likely pathogenic rs876657686 GRCh38 Chromosome X, 70027989: 70028006
36 EDA NM_001399.4(EDA): c.659_676del18 (p.Pro220_Pro225del) deletion Pathogenic/Likely pathogenic rs876657686 GRCh37 Chromosome X, 69247839: 69247856
37 EDA NM_001399.4(EDA): c.755A> T (p.His252Leu) single nucleotide variant Pathogenic rs879255552 GRCh37 Chromosome X, 69250332: 69250332
38 EDA NM_001399.4(EDA): c.755A> T (p.His252Leu) single nucleotide variant Pathogenic rs879255552 GRCh38 Chromosome X, 70030482: 70030482
39 EDA NM_001399.4(EDA): c.706+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886039344 GRCh37 Chromosome X, 69247887: 69247887
40 EDA NM_001399.4(EDA): c.706+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs886039344 GRCh38 Chromosome X, 70028037: 70028037
41 EDA NM_001399.4(EDA): c.1069C> T (p.Arg357Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs886039347 GRCh37 Chromosome X, 69255352: 69255352
42 EDA NM_001399.4(EDA): c.1069C> T (p.Arg357Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs886039347 GRCh38 Chromosome X, 70035502: 70035502
43 EDA NM_001399.4(EDA): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057520742 GRCh37 Chromosome X, 69247797: 69247797
44 EDA NM_001399.4(EDA): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057520742 GRCh38 Chromosome X, 70027947: 70027947
45 EDA NM_001399.4(EDA): c.180C> A (p.Cys60Ter) single nucleotide variant Pathogenic rs1131692034 GRCh37 Chromosome X, 68836332: 68836332
46 EDA NM_001399.4(EDA): c.180C> A (p.Cys60Ter) single nucleotide variant Pathogenic rs1131692034 GRCh38 Chromosome X, 69616488: 69616488
47 EDA NC_000023.10: g.(?_69080668)_(69177002_?)dup duplication Pathogenic GRCh37 Chromosome X, 69080668: 69177002
48 EDA NC_000023.10: g.(?_69243048)_(69255479_?)del deletion Pathogenic GRCh37 Chromosome X, 69243048: 69255479
49 EDA NM_001399.4(EDA): c.228_234delCCGCCTTinsAA (p.Leu78Argfs) indel Pathogenic GRCh37 Chromosome X, 68836380: 68836386
50 EDA NM_001399.4(EDA): c.228_234delCCGCCTTinsAA (p.Leu78Argfs) indel Pathogenic GRCh38 Chromosome X, 69616536: 69616542

Expression for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Search GEO for disease gene expression data for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked.

Pathways for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

GO Terms for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

Biological processes related to Ectodermal Dysplasia 1, Hypohidrotic, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell differentiation GO:0030154 9.26 EDA EDA2R
2 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.16 EDA EDA2R
3 positive regulation of NF-kappaB transcription factor activity GO:0051092 8.96 EDA EDA2R
4 tumor necrosis factor-mediated signaling pathway GO:0033209 8.62 EDA EDA2R

Sources for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
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30 HGMD
31 HMDB
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62 PubMed
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