XHED
MCID: ECT070
MIFTS: 49

Ectodermal Dysplasia 1, Hypohidrotic, X-Linked (XHED)

Categories: Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases, Skin 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 74 13
Christ-Siemens-Touraine Syndrome 57 59 74 72
Xhed 57 59 74
Ectodermal Dysplasia 1 57 74
Cst Syndrome 57 74
Ectd1 57 74
Xlhed 57 74
Eda1 57 74
Eda 57 74
Ed1 57 74
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 74
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 74
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:



External Ids:

MeSH 44 D053358
MESH via Orphanet 45 D053358
ICD10 via Orphanet 34 Q82.4
UMLS via Orphanet 73 C0162359
Orphanet 59 ORPHA181
MedGen 42 C0162359
UMLS 72 C0162359

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 TRAF Pathway. The drugs Antibodies and Immunologic Factors 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 : 74 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:

(show top 50) (show all 145)
# Related Disease Score Top Affiliating Genes
1 ectodermal dysplasia 10b, hypohidrotic/hair/tooth type, autosomal recessive 32.9 EDA2R EDA
2 ectodermal dysplasia 32.2 EDA2R EDA
3 tooth agenesis 31.6 EDA2R EDA
4 ectodermal dysplasia and immunodeficiency 1 12.2
5 ectodermal dysplasia 11b, hypohidrotic/hair/tooth type, autosomal recessive 11.9
6 tooth agenesis, selective, x-linked, 1 11.8
7 anhidrosis 11.7
8 craniofrontonasal syndrome 11.7
9 hypotrichosis 11.6
10 taurodontism 11.6
11 anodontia 11.6
12 hypodontia, x-linked 11.6
13 ectodermal dysplasia, anhidrotic, with immunodeficiency, osteopetrosis, and lymphedema 11.5
14 hypohidrotic ectodermal dysplasia with immunodeficiency 11.5
15 rapp-hodgkin syndrome 11.5
16 clouston syndrome 11.2
17 goodpasture syndrome 11.2
18 hypothyroidism, central, and testicular enlargement 11.2
19 acute kidney tubular necrosis 11.2
20 acute proliferative glomerulonephritis 11.2
21 hepatic infarction 11.2
22 sweat gland disease 11.2
23 seminal vesicle adenocarcinoma 11.2
24 orchitis 11.2
25 seminal vesicle tumor 11.2
26 anti-basement membrane glomerulonephritis 11.2
27 immunodeficiency without anhidrotic ectodermal dysplasia 11.2
28 ectodermal dysplasia 11a, hypohidrotic/hair/tooth type, autosomal dominant 11.2
29 ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type 11.2
30 osteopetrosis 11.2
31 ameloonychohypohidrotic syndrome 10.6
32 ankyloblepharon-ectodermal defects-cleft lip/palate 10.6
33 book syndrome 10.6
34 dermatopathia pigmentosa reticularis 10.6
35 dermoodontodysplasia 10.6
36 ectodermal dysplasia, trichoodontoonychial type 10.6
37 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 10.6
38 naegeli-franceschetti-jadassohn syndrome 10.6
39 witkop syndrome 10.6
40 trichodentoosseous syndrome 10.6
41 uncombable hair, retinal pigmentary dystrophy, dental anomalies, and brachydactyly 10.6
42 ectodermal dysplasia, hypohidrotic, with hypothyroidism and ciliary dyskinesia 10.6
43 leukomelanoderma, infantilism, mental retardation, hypodontia, hypotrichosis 10.6
44 moyamoya disease 1 10.6
45 vitiligo-associated multiple autoimmune disease susceptibility 6 10.5
46 vitiligo-associated multiple autoimmune disease susceptibility 1 10.5
47 palmoplantar keratosis 10.5
48 alopecia, congenital 10.3
49 autosomal recessive disease 10.3
50 keratitis, hereditary 10.3

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

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

59 32 (show all 49)
# 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 dry skin 32 HP:0000958
16 delayed eruption of teeth 59 Very frequent (99-80%)
17 respiratory distress 32 HP:0002098
18 thin skin 32 HP:0000963
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 absent eyelashes 32 HP:0000561
31 hypoplastic nipples 32 HP:0002557
32 anhidrosis 32 HP:0000970
33 concave nail 32 HP:0001598
34 sparse eyelashes 32 HP:0000653
35 rhinitis 32 HP:0012384
36 short chin 32 HP:0000331
37 absent eyebrow 32 HP:0002223
38 conical tooth 32 HP:0000698
39 absent nipple 32 HP:0002561
40 periorbital wrinkles 32 HP:0000607
41 brittle hair 32 HP:0002299
42 aplasia/hypoplastia of the eccrine sweat glands 32 HP:0007592
43 heat intolerance 32 HP:0002046
44 soft skin 32 HP:0000977
45 sparse and thin eyebrow 32 HP:0000535
46 periorbital hyperpigmentation 32 HP:0001106
47 hypohidrotic ectodermal dysplasia 32 HP:0007607
48 hypoplastic-absent sebaceous glands 32 HP:0007411
49 abnormal oral mucosa morphology 32 HP:0011830

Symptoms via clinical synopsis from OMIM:

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

Head And Neck Teeth:
microdontia
hypodontia
taurodontism
conical teeth
adontia

Head And Neck Eyes:
periorbital wrinkles
periorbital hyperpigmentation
absent tears
absent miebomian glands
scant-absent eyebrows
more
Head And Neck Nose:
small nose
hypoplastic alae nasi
nasal mucosa atrophy
ozena
depressed nasal root and bridge ('saddle nose')

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

Skin Nails Hair Skin:
dry skin
hypohidrosis
eczema
anhidrosis
periorbital hyperpigmentation
more
Skin Nails Hair Hair:
hypotrichosis
fine, brittle hair
scanty hair
absent or scanty eyelashes
absent or scanty eyebrows
more
Respiratory:
respiratory difficulties

Head And Neck Mouth:
prominent lips
decreased palatal depth

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

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 Antibodies Phase 2
2 Immunologic Factors Phase 2
3 Immunoglobulins Phase 2
4 Immunoglobulin Fc Fragments Phase 2

Interventional clinical trials:

(show all 17)
# Name Status NCT ID Phase Drugs
1 A Phase 2 Open-label, Dose-escalation Study to Evaluate the Safety, Pharmacokinetics, Immunogenicity and Pharmacodynamics/Efficacy of EDI200, an EDA-A1 Replacement Protein, Administered to Male Infants With X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Completed NCT01775462 Phase 2 EDI200
2 A Phase 1, Open-label, Multicenter, Safety and Pharmacokinetic Study of EDI200, an Ectodysplasin-A1 Replacement Molecule, in X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED) Adults Completed NCT01564225 Phase 1 EDI200
3 Natural History and Outcomes in X-Linked Hypohidrotic Ectodermal Dysplasia Completed NCT02099552
4 Investigation of Chronic Inflammatory Processes in the Respiratory Tract and the Eyes of Male Individuals With X-linked Hypohidrotic Ectodermal Dysplasia Completed NCT01308333
5 Medical Record Review of Hypohidrotic Ectodermal Dysplasia Clinical Phenotype Completed NCT01398397
6 Phenotypic Properties in Individuals Affected With X-linked Hypohidrotic Ectodermal Dysplasia: Symptoms and Facial Recognition Completed NCT01871714
7 Short Term Effects and Risks of Physical Exercise in Subjects With Hypohidrotic Ectodermal Dysplasia (Christ-Siemens-Touraine Syndrome) Completed NCT01135888
8 Survey of X-Linked Hypohidrotic Ectodermal Dysplasia Carrier Women's Outlook Towards Reproduction, Potential XLHED Treatments and Genetic Testing Completed NCT01398813
9 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected by Hypohidrotic Ectodermal Dysplasia Completed NCT01293565
10 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia (ECP-012) Completed NCT01629927
11 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
12 Evaluation of Phenotypic and Genetic Properties in Male Subjects Affected By Hypohidrotic Ectodermal Dysplasia: Intrafamilial Variation Completed NCT01386775
13 Sweat Duct Imaging in Mother/Newborn Dyads Completed NCT01342133
14 Evaluation of Phenotypic and Genetic Properties in Male Subjects With Hypohidrotic Ectodermal Dysplasia and Their Family Members Completed NCT01108770
15 Validation of Non-invasive Technologies for the Characterization of Sweat Gland Function in Patients With Recessively Inherited Hypohidrotic Ectodermal Dysplasia, Their Heterozygous Family Members and Healthy Controls Completed NCT01109290
16 Extension Study of XLHED-Affected Male Subjects Treated With EDI200 in Protocol ECP-002 Active, not recruiting NCT01992289 EDI200
17 A Cross-Sectional Natural History Study to Evaluate Sweat Volume and Other Phenotypic and Genetic Characteristics in Patients Affected by X-Linked Hypohidrotic XLHED Ectodermal Dysplasia (XLHED) Withdrawn NCT03912792

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 top 50) (show all 77)
# Title Authors PMID Year
1
A new mutation resulting in the truncation of the TRAF6-interacting domain of XEDAR: a possible novel cause of hypohidrotic ectodermal dysplasia. 8 71
22889853 2012
2
Father-to-son transmission of an X-linked gene: a case of paternal sex chromosome heterodisomy. 8 71
19921643 2009
3
Lelis Syndrome may be a manifestation of hypohidrotic ectodermal dysplasia. 8 71
19533796 2009
4
A novel de novo frame-shift mutation of the EDA gene in a Chinese Han family with hypohidrotic ectodermal dysplasia. 8 71
17066260 2006
5
Identification of a new splice form of the EDA1 gene permits detection of nearly all X-linked hypohidrotic ectodermal dysplasia mutations. 8 71
9683615 1998
6
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. 8 71
8696334 1996
7
Sweat testing to identify female carriers of X linked hypohidrotic ectodermal dysplasia. 38 8
1865470 1991
8
Identification of functioning sweat pores and visualization of skin temperature patterns in X-linked hypohidrotic ectodermal dysplasia by whole body thermography. 38 8
2253940 1990
9
Female with hypohidrotic ectodermal dysplasia and de novo (X;9) translocation. Clinical documentation of the AnLy cell line case. 38 8
2338345 1990
10
Prenatal Correction of X-Linked Hypohidrotic Ectodermal Dysplasia. 8
29694819 2018
11
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases. 8
20979233 2011
12
X-chromosomal insertions at a recurrent site causing ectodermal dysplasia. 71
19264582 2009
13
X-linked hypohidrotic ectodermal dysplasia. Genetic and dental findings in 67 Danish patients from 19 families. 8
18510547 2008
14
A case of Lelis syndrome with hystrix-like ichthyosis. 8
18627052 2008
15
Mutation screening of the Ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia. 8
18231121 2008
16
Significant correction of disease after postnatal administration of recombinant ectodysplasin A in canine X-linked ectodermal dysplasia. 8
17924345 2007
17
X-linked hypohidrotic ectodermal dysplasia mutations in Brazilian families. 71
12949972 2003
18
Permanent correction of an inherited ectodermal dysplasia with recombinant EDA. 8
12692542 2003
19
Hypohidrotic Ectodermal Dysplasia 71
20301291 2003
20
A single point mutation within the ED1 gene disrupts correct splicing at two different splice sites and leads to anhidrotic ectodermal dysplasia in cattle. 8
12021844 2002
21
Partial deletion of the bovine ED1 gene causes anhidrotic ectodermal dysplasia in cattle. 8
11591646 2001
22
Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia. 71
11378824 2001
23
Fatal outcome in a female monozygotic twin with X-linked hypohydrotic ectodermal dysplasia (XLHED) due to a de novo t(X;9) translocation with probable disruption of the EDA gene. 8
11388598 2001
24
A novel point mutation of the EDA gene in a Japanese family with anhidrotic ectodermal dysplasia. 71
9856856 1998
25
The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. 71
9736768 1998
26
Scarcity of mutations detected in families with X linked hypohidrotic ectodermal dysplasia: diagnostic implications. 71
9507389 1998
27
The Tabby phenotype is caused by mutation in a mouse homologue of the EDA gene that reveals novel mouse and human exons and encodes a protein (ectodysplasin-A) with collagenous domains. 8
9371801 1997
28
X-linked ectodermal dysplasia in the dog. 8
9419891 1997
29
Reduced epidermal growth factor receptor expression in hypohidrotic ectodermal dysplasia and Tabby mice. 8
8647934 1996
30
Anhidrotic ectodermal dysplasia associated with specific antibody deficiency. 8
8775234 1996
31
Detection of a molecular deletion at the DXS732 locus in a patient with X-linked hypohidrotic ectodermal dysplasia (EDA), with the identification of a unique junctional fragment. 8
8434608 1993
32
High-resolution mapping of the X-linked hypohidrotic ectodermal dysplasia (EDA) locus. 8
1357963 1992
33
X-linked anhidrotic ectodermal dysplasia and de novo t(X;1) in a female. 8
1864610 1991
34
Association of pigmentary anomalies with chromosomal and genetic mosaicism and chimerism. 8
2018034 1991
35
Clinical and radiographic dental findings in X linked hypohidrotic ectodermal dysplasia. 8
2051453 1991
36
Induction of sweat glands by epidermal growth factor in murine X-linked anhidrotic ectodermal dysplasia. 8
2348861 1990
37
Effect of the X-linked gene Tabby (Ta) on eyelid opening and incisor eruption in neonatal mice is opposite to that of epidermal growth factor. 8
2351074 1990
38
Facial morphometrics in the identification of gene carriers of X-linked hypohidrotic ectodermal dysplasia. 8
2301459 1990
39
Prenatal diagnosis of X-linked hypohidrotic ectodermal dysplasia by linkage analysis. 8
2301463 1990
40
X-linked hypohidrotic ectodermal dysplasia and t(X;12) in a female. 8
2736795 1989
41
Hypohidrotic ectodermal dysplasia. Clinical study of a family of 30 over three generations. 8
2912882 1989
42
Genetic mapping of anhidrotic ectodermal dysplasia: DXS159, a closely linked proximal marker. 8
2902000 1988
43
X-linked hypohidrotic ectodermal dysplasia: localization within the region Xq11-21.1 by linkage analysis and implications for carrier detection and prenatal diagnosis. 8
3163892 1988
44
Recognition and reanalysis of a cell line from a manifesting female with X linked hypohidrotic ectodermal dysplasia and an X; autosome balanced translocation. 8
3398005 1988
45
Hypohidrotic ectodermal dysplasia. 8
3323518 1987
46
X-linked hypohidrotic ectodermal dysplasia: DNA probe linkage analysis and gene localization. 8
2883107 1987
47
Close linkage between X-linked ectodermal dysplasia and a cloned DNA sequence detecting a two allele restriction fragment length polymorphism in the region Xp11-q12. 8
2877938 1986
48
Gene localisation of X-linked hypohidrotic ectodermal dysplasia (C-S-T syndrome). 8
3464559 1986
49
Expression of X-linked hypohidrotic ectodermal dysplasia in six males and in their mothers. 8
4042395 1985
50
Manifestation of the lines of Blaschko in women heterozygous for X-linked hypohidrotic ectodermal dysplasia. 8
4006271 1985

Variations for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

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

6 (show top 50) (show all 85)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 EDA NM_001399.5(EDA): c.180C> A (p.Cys60Ter) single nucleotide variant Pathogenic rs1131692034 X:68836332-68836332 X:69616488-69616488
2 EDA NC_000023.10: g.(?_69080668)_(69177002_?)dup duplication Pathogenic X:69080668-69177002 :0-0
3 EDA NC_000023.10: g.(?_69243048)_(69255479_?)del deletion Pathogenic X:69243048-69255479 :0-0
4 EDA NM_001399.5(EDA): c.228_234delinsAA (p.Leu78fs) indel Pathogenic rs1555972067 X:68836380-68836386 X:69616536-69616542
5 EDA deletion Pathogenic
6 EDA NM_001399.5(EDA): c.521_522delinsT (p.Lys174fs) indel Pathogenic rs1556092261 X:69243086-69243087 X:70023236-70023237
7 EDA NM_001399.5(EDA): c.560dup (p.Pro188fs) duplication Pathogenic rs1556098384 X:69247740-69247740 X:70027890-70027890
8 EDA NM_001399.5(EDA): c.599dup (p.Gly201fs) duplication Pathogenic rs1556098570 X:69247779-69247779 X:70027929-70027929
9 EDA NM_001399.5(EDA): c.628G> T (p.Gly210Ter) single nucleotide variant Pathogenic rs1556098733 X:69247808-69247808 X:70027958-70027958
10 EDA NC_000023.10: g.(?_68890034)_(69177002_?)dup duplication Pathogenic X:68890034-69177002 :0-0
11 EDA NC_000023.10: g.(?_68836133)_(69255479_?)del deletion Pathogenic X:68836133-69255479 :0-0
12 EDA NM_001399.5(EDA): c.741G> A (p.Gln247=) single nucleotide variant Pathogenic rs886042183 X:69249388-69249388 X:70029538-70029538
13 EDA NC_000023.10: g.(?_68836133)_(68890124_?)del deletion Pathogenic X:68836133-68890124 X:69616289-69670280
14 EDA NM_001399.5(EDA): c.239dup (p.Ser81fs) duplication Pathogenic rs1555972071 X:68836391-68836391 X:69616547-69616547
15 EDA NM_001399.5(EDA): c.681_697del (p.Pro228fs) deletion Pathogenic rs1556098978 X:69247861-69247877 X:70028011-70028027
16 EDA NM_001399.5(EDA): c.671G> C (p.Gly224Ala) single nucleotide variant Pathogenic rs132630316 X:69247851-69247851 X:70028001-70028001
17 EDA NM_001399.5(EDA): c.1045G> A (p.Ala349Thr) single nucleotide variant Pathogenic rs132630317 X:69255328-69255328 X:70035478-70035478
18 EDA NM_001399.5(EDA): c.183C> G (p.Tyr61Ter) single nucleotide variant Pathogenic rs132630318 X:68836335-68836335 X:69616491-69616491
19 EDA EDA, 36-BP DEL, EX5 deletion Pathogenic
20 EDA EDA, 1-BP DEL, EX6 deletion Pathogenic
21 EDA NM_001399.5(EDA): c.573_574insT (p.Gly192fs) insertion Pathogenic X:69247753-69247754 X:70027903-70027904
22 EDA NM_001399.5(EDA): c.910_911TA[3] (p.Ser305fs) short repeat Pathogenic X:69253366-69253367 X:70033516-70033517
23 EDA NM_001399.5(EDA): c.826C> T (p.Arg276Cys) single nucleotide variant Pathogenic rs387907197 X:69253280-69253280 X:70033430-70033430
24 EDA NM_001399.5(EDA): c.67C> T (p.Gln23Ter) single nucleotide variant Pathogenic rs132630310 X:68836219-68836219 X:69616375-69616375
25 EDA NM_001399.5(EDA): c.187G> A (p.Glu63Lys) single nucleotide variant Pathogenic rs132630311 X:68836339-68836339 X:69616495-69616495
26 EDA NM_001399.5(EDA): c.463C> T (p.Arg155Cys) single nucleotide variant Pathogenic rs132630312 X:69176943-69176943 X:69957093-69957093
27 EDA NM_001399.5(EDA): c.466C> T (p.Arg156Cys) single nucleotide variant Pathogenic rs132630313 X:69176946-69176946 X:69957096-69957096
28 EDA NM_001399.5(EDA): c.467G> A (p.Arg156His) single nucleotide variant Pathogenic rs132630314 X:69176947-69176947 X:69957097-69957097
29 EDA NM_001399.5(EDA): c.457C> T (p.Arg153Cys) single nucleotide variant Pathogenic rs397516662 X:69176937-69176937 X:69957087-69957087
30 EDA NM_001399.5(EDA): c.546_581del (p.Asn185_Pro196del) deletion Pathogenic rs397516665 X:69247726-69247761 X:70027876-70027911
31 EDA NM_001399.5(EDA): c.572_589del (p.188_190PGP[1]) deletion Pathogenic rs397516668 X:69247752-69247769 X:70027902-70027919
32 EDA NM_001399.5(EDA): c.663_697del (p.Pro222fs) deletion Pathogenic rs397516670 X:69247843-69247877 X:70027993-70028027
33 EDA NM_001399.5(EDA): c.766C> T (p.Gln256Ter) single nucleotide variant Pathogenic rs727504417 X:69250343-69250343 X:70030493-70030493
34 EDA NM_001399.5(EDA): c.527-2A> T single nucleotide variant Pathogenic X:69247705-69247705 X:70027855-70027855
35 EDA NM_001399.5(EDA): c.396+4dup duplication Pathogenic X:68836552-68836552 X:69616708-69616708
36 EDA NM_001399.5(EDA): c.459dup (p.Val154fs) duplication Pathogenic X:69176939-69176939 X:69957089-69957089
37 EDA NM_001399.5(EDA): c.1133C> T (p.Thr378Met) single nucleotide variant Pathogenic X:69255416-69255416 X:70035566-70035566
38 EDA NM_001399.5(EDA): c.252del (p.Gly85fs) deletion Pathogenic X:68836404-68836404 X:69616560-69616560
39 EDA NM_001399.5(EDA): c.599del (p.Pro200fs) deletion Pathogenic X:69247779-69247779 X:70027929-70027929
40 EDA NM_001399.5(EDA): c.755A> T (p.His252Leu) single nucleotide variant Pathogenic rs879255552 X:69250332-69250332 X:70030482-70030482
41 EDA NM_001399.5(EDA): c.706+1G> A single nucleotide variant Pathogenic rs886039344 X:69247887-69247887 X:70028037-70028037
42 EDA NC_000023.10: g.(?_68890034)_(69177002_?)del deletion Pathogenic X:68890034-69177002 :0-0
43 EDA NC_000023.10: g.(?_69080668)_(69177002_?)del deletion Pathogenic X:69080668-69177002 :0-0
44 EDA NM_001399.5(EDA): c.706+5G> T single nucleotide variant Pathogenic X:69247891-69247891 X:70028041-70028041
45 EDA NC_000023.10: g.(?_69255188)_(69255479_?)del deletion Pathogenic X:69255188-69255479 X:70035338-70035629
46 EDA NC_000023.10: g.(?_69176857)_(69177002_?)del deletion Pathogenic X:69176857-69177002 X:69957007-69957152
47 EDA NM_001399.5(EDA): c.1094T> C (p.Val365Ala) single nucleotide variant Pathogenic/Likely pathogenic rs397516654 X:69255377-69255377 X:70035527-70035527
48 EDA NM_001399.5(EDA): c.659_676del (p.217_219PGP[1]) deletion Pathogenic/Likely pathogenic rs876657686 X:69247839-69247856 X:70027989-70028006
49 EDA NM_001399.5(EDA): c.1067C> T (p.Ala356Val) single nucleotide variant Pathogenic/Likely pathogenic rs876657639 X:69255350-69255350 X:70035500-70035500
50 EDA NM_001399.5(EDA): c.617C> T (p.Pro206Leu) single nucleotide variant Pathogenic/Likely pathogenic rs1057520742 X:69247797-69247797 X:70027947-70027947

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

74 (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 rs106479310
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

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 multicellular organism development GO:0007275 9.32 EDA2R EDA
2 cell differentiation GO:0030154 9.26 EDA2R EDA
3 positive regulation of I-kappaB kinase/NF-kappaB signaling GO:0043123 9.16 EDA2R EDA
4 positive regulation of NF-kappaB transcription factor activity GO:0051092 8.96 EDA2R EDA
5 tumor necrosis factor-mediated signaling pathway GO:0033209 8.62 EDA2R EDA

Sources for Ectodermal Dysplasia 1, Hypohidrotic, X-Linked

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
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58 OMIM via Orphanet
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69 SNOMED-CT via HPO
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73 UMLS via Orphanet
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