EEMS
MCID: ECT102
MIFTS: 48

Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome (EEMS)

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

Aliases & Classifications for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

MalaCards integrated aliases for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome:

Name: Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome 57 12 20 72 15
Eem Syndrome 57 12 73 20 58 72 29 6
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 57 20 36 13 70
Eems 57 12 72
Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy Syndrome 12 58
Dysplasia, Ectodermal, Ectrodactyly, and Macular Dystrophy 39
Ohdo-Hirayama-Terawaki Syndrome 72
Albrectsen-Svendsen Syndrome 72

Characteristics:

Orphanet epidemiological data:

58
eem syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111649
OMIM® 57 225280
KEGG 36 H00639
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 71 C1857041
Orphanet 58 ORPHA1897
MedGen 41 C1857041
UMLS 70 C1857041

Summaries for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

OMIM® : 57 EEM syndrome denotes a disorder characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy. The ectodermal dysplasia consists of hypotrichosis affecting scalp hair, eyebrows, and eyelashes, with partial anodontia. Different degrees of absence deformities as well as syndactyly have been described, the hands often being more severely affected than the feet. The retinal lesion appears as a central geographic atrophy of the retinal pigment epithelium and choriocapillary layer of the macular area with coarse hyperpigmentations and sparing of the larger choroidal vessels (summary by Kjaer et al., 2005). (225280) (Updated 20-May-2021)

MalaCards based summary : Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome, also known as eem syndrome, is related to hypotrichosis, congenital, with juvenile macular dystrophy and split-hand/foot malformation 1. An important gene associated with Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome is CDH3 (Cadherin 3), and among its related pathways/superpathways are Cell adhesion molecules and Nanog in Mammalian ESC Pluripotency. The drugs Metoprolol and Furosemide have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and cervix, and related phenotypes are abnormality of retinal pigmentation and retinopathy

Disease Ontology : 12 An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has material basis in homozygous or compound heterozygous mutation in CDH3 on chromosome 16q22.1.

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1897 Definition EEM syndrome is characterised by the association of ectodermal dysplasia, ectrodactyly, and macular dystrophy. So far, it has been described in individuals from seven families. Hypotrichosis, dental anomalies and absent eyebrows have also been reported. EMM syndrome appears to be transmitted as an autosomal recessive trait and may be caused by mutations in the cadherin-3 gene ( CH3, 16q22.1).

KEGG : 36 Ectodermal dysplasia with ectrodactyly and macular dystrophy (EEM syndrome) is the rare association of several clinical features caused by defects in CDH3. The ectodermal defect is characterized by hypotrichosis with sparse and short scalp hair, eyebrows, and eyelashes. Digit deficiency/syndactyly in hands is often more severe than the feet. Bilateral retinal degeneration appears as prominent pigmentation of the retina.

UniProtKB/Swiss-Prot : 72 Ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: A form of ectodermal dysplasia, a heterogeneous group of disorders due to abnormal development of two or more ectodermal structures. It is an autosomal recessive condition characterized by features of ectodermal dysplasia such as sparse eyebrows and scalp hair, and selective tooth agenesis associated with macular dystrophy and ectrodactyly.

Wikipedia : 73 EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal... more...

Related Diseases for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

Graphical network of the top 20 diseases related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome:



Diseases related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome

Symptoms & Phenotypes for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

Human phenotypes related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome:

58 31 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of retinal pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0007703
2 retinopathy 58 31 hallmark (90%) Very frequent (99-80%) HP:0000488
3 sparse scalp hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002209
4 sparse body hair 58 31 hallmark (90%) Very frequent (99-80%) HP:0002231
5 ectrodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0100257
6 macular dystrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0007754
7 widely spaced teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000687
8 carious teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000670
9 microdontia 58 31 frequent (33%) Frequent (79-30%) HP:0000691
10 abnormality of vision 58 31 frequent (33%) Frequent (79-30%) HP:0000504
11 finger syndactyly 58 31 frequent (33%) Frequent (79-30%) HP:0006101
12 absent eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002223
13 selective tooth agenesis 58 31 frequent (33%) Frequent (79-30%) HP:0001592
14 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
15 abnormality of the eye 58 Frequent (79-30%)
16 split hand 31 HP:0001171
17 abnormality of dental morphology 58 Very frequent (99-80%)
18 sparse eyelashes 31 HP:0000653
19 camptodactyly 31 HP:0012385
20 ectodermal dysplasia 31 HP:0000968
21 syndactyly 31 HP:0001159
22 joint contracture of the hand 31 HP:0009473
23 sparse and thin eyebrow 31 HP:0000535

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Teeth:
widely spaced teeth
selective tooth agenesis
small teeth

Skeletal Hands:
ectrodactyly
camptodactyly
syndactyly

Skin Nails Hair Skin:
normal sweating

Skin Nails Hair Hair:
sparse scalp hair
sparse eyelashes
sparse eyebrows

Head And Neck Eyes:
sparse eyelashes
macular dystrophy
sparse eyebrows

Clinical features from OMIM®:

225280 (Updated 20-May-2021)

Drugs & Therapeutics for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

Drugs for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 9)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Metoprolol Approved, Investigational 51384-51-1, 37350-58-6 4171
2
Furosemide Approved, Vet_approved 54-31-9 3440
3
Fluspirilene Approved, Investigational 1841-19-6 3396
4 Complement System Proteins
5 Complement C3
6 Adrenergic beta-Antagonists
7 Plasminogen
8 Calcium, Dietary
9
Calcium Nutraceutical 7440-70-2 271

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 PET/CT for the Quantification of Atherosclerotic Plaque Inflammation in Patients With Coronary Heart Disease: The QAEK Trial Unknown status NCT01553513
2 Measurement of Fluorescence EEM of Cervical Intraepithelial Neoplasia Completed NCT00632190
3 Pathological Correlation of Colposcopically Directed Biopsies to Fluorescence EEM of the Normal Human Cervix Completed NCT00084903
4 Intravascular Ultrasound-derived Morphometric Assessment of Fractional Flow Reserve Negative Lesions to Predict Cardiovascular Outcomes in Non-ST-segment Acute Coronary Syndrome Patients Recruiting NCT03641898

Search NIH Clinical Center for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome

Genetic Tests for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

Genetic tests related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome:

# Genetic test Affiliating Genes
1 Eem Syndrome 29 CDH3

Anatomical Context for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

MalaCards organs/tissues related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome:

40
Eye, Retina, Cervix, Skin

Publications for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

Articles related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome:

(show all 14)
# Title Authors PMID Year
1
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). 57 6 61
15805154 2005
2
EEM syndrome: report of a family and results of a ten-year follow-up. 57 6 61
10420194 1999
3
Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings. 61 57
11424132 2001
4
Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. 61 57
6302256 1983
5
Alopecia, macular degeneration, and growth retardation: a new syndrome? 57
3425621 1987
6
Hypotrichosis, syndactyly, and retinal degeneration in two siblings. 6
13372143 1956
7
Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. 61
30208149 2018
8
The role of P-cadherin in skin biology and skin pathology: lessons from the hair follicle. 61
25707507 2015
9
CDH3-Related Syndromes: Report on a New Mutation and Overview of the Genotype-Phenotype Correlations. 61
22140374 2010
10
Splice site mutations in the P-cadherin gene underlie hypotrichosis with juvenile macular dystrophy. 61
20203473 2010
11
P-cadherin is a p63 target gene with a crucial role in the developing human limb bud and hair follicle. 61
18199584 2008
12
Ectrodactyly, ectodermal dysplasia, macular degeneration syndrome: a further contribution. 61
16970031 2006
13
[Erythema exsudativum multiforme (EEM) syndrome, Stevens-Johnson syndrome (SJS)]. 61
11269085 2000
14
Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report). 61
2628819 1989

Variations for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

ClinVar genetic disease variations for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome:

6 (show top 50) (show all 116)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CDH3 NM_001793.6(CDH3):c.965A>T (p.Asn322Ile) SNV Pathogenic 17640 rs121434543 GRCh37: 16:68714968-68714968
GRCh38: 16:68681065-68681065
2 CDH3 NM_001793.6(CDH3):c.830del (p.Gly277fs) Deletion Pathogenic 17641 rs724159985 GRCh37: 16:68713839-68713839
GRCh38: 16:68679936-68679936
3 CDH3 NM_001793.6(CDH3):c.2087del (p.Asp696fs) Deletion Likely pathogenic 930688 GRCh37: 16:68729242-68729242
GRCh38: 16:68695339-68695339
4 CDH3 NM_001793.6(CDH3):c.1050G>A (p.Thr350=) SNV Uncertain significance 885718 GRCh37: 16:68716258-68716258
GRCh38: 16:68682355-68682355
5 CDH3 NM_001793.6(CDH3):c.1119C>T (p.Asp373=) SNV Uncertain significance 885719 GRCh37: 16:68716327-68716327
GRCh38: 16:68682424-68682424
6 CDH3 NM_001793.6(CDH3):c.1221C>T (p.Tyr407=) SNV Uncertain significance 885720 GRCh37: 16:68718524-68718524
GRCh38: 16:68684621-68684621
7 CDH3 NM_001793.6(CDH3):c.*149G>T SNV Uncertain significance 888066 GRCh37: 16:68732452-68732452
GRCh38: 16:68698549-68698549
8 CDH3 NM_001793.6(CDH3):c.2061C>T (p.Leu687=) SNV Uncertain significance 885773 GRCh37: 16:68729216-68729216
GRCh38: 16:68695313-68695313
9 CDH3 NM_001793.6(CDH3):c.2115G>A (p.Gly705=) SNV Uncertain significance 885774 GRCh37: 16:68729270-68729270
GRCh38: 16:68695367-68695367
10 CDH3 NM_001793.6(CDH3):c.2227A>G (p.Met743Val) SNV Uncertain significance 885775 GRCh37: 16:68729773-68729773
GRCh38: 16:68695870-68695870
11 CDH3 NM_001793.6(CDH3):c.*535G>A SNV Uncertain significance 885852 GRCh37: 16:68732838-68732838
GRCh38: 16:68698935-68698935
12 CDH3 NM_001793.6(CDH3):c.324T>C (p.Asp108=) SNV Uncertain significance 886671 GRCh37: 16:68712114-68712114
GRCh38: 16:68678211-68678211
13 CDH3 NM_001793.6(CDH3):c.547-12T>C SNV Uncertain significance 886672 GRCh37: 16:68712653-68712653
GRCh38: 16:68678750-68678750
14 CDH3 NM_001793.6(CDH3):c.651G>C (p.Gln217His) SNV Uncertain significance 886673 GRCh37: 16:68712769-68712769
GRCh38: 16:68678866-68678866
15 CDH3 NM_001793.6(CDH3):c.654C>T (p.Asp218=) SNV Uncertain significance 886674 GRCh37: 16:68712772-68712772
GRCh38: 16:68678869-68678869
16 CDH3 NM_001793.6(CDH3):c.1284G>A (p.Val428=) SNV Uncertain significance 886725 GRCh37: 16:68718587-68718587
GRCh38: 16:68684684-68684684
17 CDH3 NM_001793.6(CDH3):c.2251C>A (p.Pro751Thr) SNV Uncertain significance 886786 GRCh37: 16:68729797-68729797
GRCh38: 16:68695894-68695894
18 CDH3 NM_001793.6(CDH3):c.2340C>T (p.Phe780=) SNV Uncertain significance 886787 GRCh37: 16:68732153-68732153
GRCh38: 16:68698250-68698250
19 CDH3 NM_001793.6(CDH3):c.2356G>A (p.Gly786Ser) SNV Uncertain significance 444373 rs34813787 GRCh37: 16:68732169-68732169
GRCh38: 16:68698266-68698266
20 CDH3 NM_001793.6(CDH3):c.2362G>A (p.Asp788Asn) SNV Uncertain significance 842854 GRCh37: 16:68732175-68732175
GRCh38: 16:68698272-68698272
21 CDH3 NM_001793.6(CDH3):c.798C>T (p.His266=) SNV Uncertain significance 887927 GRCh37: 16:68713808-68713808
GRCh38: 16:68679905-68679905
22 CDH3 NM_001793.6(CDH3):c.820C>T (p.Arg274Trp) SNV Uncertain significance 887928 GRCh37: 16:68713830-68713830
GRCh38: 16:68679927-68679927
23 CDH3 NM_001793.6(CDH3):c.1632T>G (p.His544Gln) SNV Uncertain significance 887979 GRCh37: 16:68721476-68721476
GRCh38: 16:68687573-68687573
24 CDH3 NM_001793.6(CDH3):c.1652G>A (p.Arg551His) SNV Uncertain significance 499468 rs779413254 GRCh37: 16:68721496-68721496
GRCh38: 16:68687593-68687593
25 CDH3 NM_001793.6(CDH3):c.2469C>T (p.Tyr823=) SNV Uncertain significance 739418 rs576190086 GRCh37: 16:68732282-68732282
GRCh38: 16:68698379-68698379
26 CDH3 NM_001793.6(CDH3):c.*2C>T SNV Uncertain significance 888062 GRCh37: 16:68732305-68732305
GRCh38: 16:68698402-68698402
27 CDH3 NM_001793.6(CDH3):c.*3G>T SNV Uncertain significance 888063 GRCh37: 16:68732306-68732306
GRCh38: 16:68698403-68698403
28 CDH3 NM_001793.6(CDH3):c.*87G>T SNV Uncertain significance 888064 GRCh37: 16:68732390-68732390
GRCh38: 16:68698487-68698487
29 CDH3 NM_001793.5(CDH3):c.-621G>A SNV Uncertain significance 320211 rs886052225 GRCh37: 16:68678662-68678662
GRCh38: 16:68644759-68644759
30 CDH3 NM_001793.5(CDH3):c.-302C>T SNV Uncertain significance 320214 rs145687049 GRCh37: 16:68678981-68678981
GRCh38: 16:68645078-68645078
31 CDH3 NM_001793.6(CDH3):c.1796-11G>T SNV Uncertain significance 320247 rs752252704 GRCh37: 16:68725612-68725612
GRCh38: 16:68691709-68691709
32 CDH3 NM_001793.6(CDH3):c.1011G>C (p.Val337=) SNV Uncertain significance 320233 rs201726457 GRCh37: 16:68716219-68716219
GRCh38: 16:68682316-68682316
33 CDH3 NM_001793.6(CDH3):c.*87G>C SNV Uncertain significance 320257 rs555473968 GRCh37: 16:68732390-68732390
GRCh38: 16:68698487-68698487
34 CDH3 NM_001793.6(CDH3):c.2419G>A (p.Asp807Asn) SNV Uncertain significance 320254 rs535174122 GRCh37: 16:68732232-68732232
GRCh38: 16:68698329-68698329
35 CDH3 NM_001793.5(CDH3):c.-72T>C SNV Uncertain significance 320220 rs557660477 GRCh37: 16:68679211-68679211
GRCh38: 16:68645308-68645308
36 CDH3 NM_001793.5(CDH3):c.-193G>T SNV Uncertain significance 320217 rs550203444 GRCh37: 16:68679090-68679090
GRCh38: 16:68645187-68645187
37 CDH3 NM_001793.5(CDH3):c.-983A>G SNV Uncertain significance 320203 rs151123159 GRCh37: 16:68678300-68678300
GRCh38: 16:68644397-68644397
38 CDH3 NM_001793.6(CDH3):c.100G>A (p.Ala34Thr) SNV Uncertain significance 320223 rs749754991 GRCh37: 16:68679593-68679593
GRCh38: 16:68645690-68645690
39 CDH3 NM_001793.6(CDH3):c.1183-12C>T SNV Uncertain significance 320236 rs886052232 GRCh37: 16:68718474-68718474
GRCh38: 16:68684571-68684571
40 CDH3 NM_001793.6(CDH3):c.1443C>T (p.Asp481=) SNV Uncertain significance 193848 rs144403828 GRCh37: 16:68719126-68719126
GRCh38: 16:68685223-68685223
41 CDH3 NM_001793.6(CDH3):c.1339G>A (p.Val447Ile) SNV Uncertain significance 320239 rs145160881 GRCh37: 16:68718642-68718642
GRCh38: 16:68684739-68684739
42 CDH3 NM_001793.6(CDH3):c.1593G>A (p.Thr531=) SNV Uncertain significance 320242 rs147208782 GRCh37: 16:68721437-68721437
GRCh38: 16:68687534-68687534
43 CDH3 NM_001793.6(CDH3):c.1848C>T (p.Asp616=) SNV Uncertain significance 320248 rs768811436 GRCh37: 16:68725675-68725675
GRCh38: 16:68691772-68691772
44 CDH3 NM_001793.6(CDH3):c.*595G>A SNV Uncertain significance 320263 rs111487714 GRCh37: 16:68732898-68732898
GRCh38: 16:68698995-68698995
45 CDH3 NM_001793.5(CDH3):c.-634_-633insG Insertion Uncertain significance 320209 rs886052224 GRCh37: 16:68678649-68678650
GRCh38: 16:68644746-68644747
46 CDH3 NM_001793.6(CDH3):c.390+5G>A SNV Uncertain significance 320226 rs570628442 GRCh37: 16:68712185-68712185
GRCh38: 16:68678282-68678282
47 CDH3 NM_001793.5(CDH3):c.-282G>T SNV Uncertain significance 320215 rs886052226 GRCh37: 16:68679001-68679001
GRCh38: 16:68645098-68645098
48 CDH3 NM_001793.6(CDH3):c.867+6T>C SNV Uncertain significance 320231 rs753122508 GRCh37: 16:68713883-68713883
GRCh38: 16:68679980-68679980
49 CDH3 NM_001793.6(CDH3):c.1043G>A (p.Arg348Lys) SNV Uncertain significance 320234 rs886052231 GRCh37: 16:68716251-68716251
GRCh38: 16:68682348-68682348
50 CDH3 NM_001793.5(CDH3):c.-141C>G SNV Uncertain significance 320218 rs537339409 GRCh37: 16:68679142-68679142
GRCh38: 16:68645239-68645239

UniProtKB/Swiss-Prot genetic disease variations for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome:

72
# Symbol AA change Variation ID SNP ID
1 CDH3 p.Asn322Ile VAR_033010 rs121434543

Expression for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

Search GEO for disease gene expression data for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome.

Pathways for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

Pathways related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Cell adhesion molecules hsa04514

GO Terms for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

Cellular components related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell junction GO:0030054 9.46 SYN3 SSPN CDH3 CDH17
2 adherens junction GO:0005912 9.13 CDH8 CDH3 CDH18
3 catenin complex GO:0016342 9.02 CDH8 CDH3 CDH18 CDH17 CDH15

Biological processes related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.8 SSPN CDH8 CDH3 CDH18 CDH17 CDH15
2 cell-cell adhesion GO:0098609 9.65 CDH8 CDH3 CDH18 CDH17 CDH15
3 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.55 CDH8 CDH3 CDH18 CDH17 CDH15
4 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.54 CDH8 CDH18 CDH17
5 cell-cell junction assembly GO:0007043 9.4 CDH8 CDH18
6 adherens junction organization GO:0034332 9.35 CDH8 CDH3 CDH18 CDH17 CDH15
7 cell-cell adhesion via plasma-membrane adhesion molecules GO:0098742 9.02 CDH8 CDH3 CDH18 CDH17 CDH15

Molecular functions related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 calcium ion binding GO:0005509 9.35 CDH8 CDH3 CDH18 CDH17 CDH15
2 cadherin binding GO:0045296 9.02 CDH8 CDH3 CDH18 CDH17 CDH15

Sources for Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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