EEMS
MCID: ECT102
MIFTS: 30

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 75
Eem Syndrome 57 76 53 59 75 29 6 40
Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy 57 53 37 13 73
Eems 57 75
Ectodermal Dysplasia-Ectrodactyly-Macular Dystrophy Syndrome 59
Ohdo-Hirayama-Terawaki Syndrome 75
Albrectsen-Svendsen Syndrome 75

Characteristics:

Orphanet epidemiological data:

59
eem syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome:
Inheritance autosomal recessive inheritance


Classifications:



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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1897Disease definitionEEM 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 recessivetrait and may be caused by mutations in the cadherin-3 gene (CH3, 16q22.1).Visit the Orphanet disease page for more resources.

MalaCards based summary : Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome, also known as eem syndrome, is related to split-hand/foot malformation 1 and ectodermal dysplasia. An important gene associated with Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome is CDH3 (Cadherin 3), and among its related pathways/superpathways is Cell adhesion molecules (CAMs). Affiliated tissues include eye, skin and bone, and related phenotypes are finger syndactyly and widely spaced teeth

UniProtKB/Swiss-Prot : 75 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 : 76 EEM syndrome (or Ectodermal dysplasia, Ectrodactyly and Macular dystrophy syndrome) is an autosomal... more...

Description from OMIM: 225280

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

Diseases related to Ectodermal Dysplasia, Ectrodactyly, and Macular Dystrophy Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 split-hand/foot malformation 1 10.3
2 ectodermal dysplasia 10.3
3 isolated split hand-split foot malformation 10.3
4 obsessive-compulsive disorder 10.0
5 al-raqad syndrome 10.0
6 hypotrichosis 10.0

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...

Symptoms via clinical synopsis from OMIM:

57
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

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

59 32 (show all 23)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
2 widely spaced teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000687
3 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
4 abnormality of retinal pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0007703
5 retinopathy 59 32 hallmark (90%) Very frequent (99-80%) HP:0000488
6 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
7 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
8 microdontia 59 32 frequent (33%) Frequent (79-30%) HP:0000691
9 sparse scalp hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002209
10 sparse body hair 59 32 hallmark (90%) Very frequent (99-80%) HP:0002231
11 ectrodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0100257
12 macular dystrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0007754
13 absent eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002223
14 selective tooth agenesis 59 32 frequent (33%) Frequent (79-30%) HP:0001592
15 abnormality of the eye 59 Frequent (79-30%)
16 split hand 32 HP:0001171
17 abnormality of dental morphology 59 Very frequent (99-80%)
18 sparse eyelashes 32 HP:0000653
19 camptodactyly 32 HP:0012385
20 syndactyly 32 HP:0001159
21 ectodermal dysplasia 32 HP:0000968
22 joint contracture of the hand 32 HP:0009473
23 sparse and thin eyebrow 32 HP:0000535

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

Search Clinical Trials , 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:

41
Eye, Skin, Bone

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

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

# Title Authors Year
1
Ophthalmological findings in ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome: a case report. ( 30208149 )
2018
2
Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome). ( 15805154 )
2005
3
Ectodermal dysplasia, ectrodactyly and macular dystrophy (EEM syndrome) in siblings. ( 11424132 )
2001
4
EEM syndrome: report of a family and results of a ten-year follow-up. ( 10420194 )
1999
5
Association of ectodermal dysplasia, ectrodactyly and macular dystrophy: EEM syndrome (case report). ( 2628819 )
1989
6
Association of ectodermal dysplasia, ectrodactyly, and macular dystrophy: the EEM syndrome. ( 6302256 )
1983

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

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

75
# Symbol AA change Variation ID SNP ID
1 CDH3 p.Asn322Ile VAR_033010 rs121434543

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

6 (show top 50) (show all 142)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH3 NM_001793.5(CDH3): c.965A> T (p.Asn322Ile) single nucleotide variant Pathogenic rs121434543 GRCh37 Chromosome 16, 68714968: 68714968
2 CDH3 NM_001793.5(CDH3): c.965A> T (p.Asn322Ile) single nucleotide variant Pathogenic rs121434543 GRCh38 Chromosome 16, 68681065: 68681065
3 CDH3 NM_001793.5(CDH3): c.830delG (p.Gly277Alafs) deletion Pathogenic rs724159985 GRCh38 Chromosome 16, 68679937: 68679937
4 CDH3 NM_001793.5(CDH3): c.830delG (p.Gly277Alafs) deletion Pathogenic rs724159985 GRCh37 Chromosome 16, 68713840: 68713840
5 CDH3 NM_001793.5(CDH3): c.2239C> A (p.Arg747=) single nucleotide variant Benign rs17715450 GRCh37 Chromosome 16, 68729785: 68729785
6 CDH3 NM_001793.5(CDH3): c.2239C> A (p.Arg747=) single nucleotide variant Benign rs17715450 GRCh38 Chromosome 16, 68695882: 68695882
7 CDH3 NM_001793.5(CDH3): c.1436T> C (p.Leu479Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs138190335 GRCh37 Chromosome 16, 68719119: 68719119
8 CDH3 NM_001793.5(CDH3): c.1436T> C (p.Leu479Pro) single nucleotide variant Conflicting interpretations of pathogenicity rs138190335 GRCh38 Chromosome 16, 68685216: 68685216
9 CDH3 NM_001793.5(CDH3): c.1443C> T (p.Asp481=) single nucleotide variant Uncertain significance rs144403828 GRCh37 Chromosome 16, 68719126: 68719126
10 CDH3 NM_001793.5(CDH3): c.1443C> T (p.Asp481=) single nucleotide variant Uncertain significance rs144403828 GRCh38 Chromosome 16, 68685223: 68685223
11 CDH3 NM_001793.5(CDH3): c.2042G> A (p.Arg681Gln) single nucleotide variant Uncertain significance rs758614807 GRCh37 Chromosome 16, 68729197: 68729197
12 CDH3 NM_001793.5(CDH3): c.2042G> A (p.Arg681Gln) single nucleotide variant Uncertain significance rs758614807 GRCh38 Chromosome 16, 68695294: 68695294
13 CDH3 NM_001793.5(CDH3): c.1500C> T (p.Thr500=) single nucleotide variant Conflicting interpretations of pathogenicity rs35232945 GRCh37 Chromosome 16, 68719183: 68719183
14 CDH3 NM_001793.5(CDH3): c.1500C> T (p.Thr500=) single nucleotide variant Conflicting interpretations of pathogenicity rs35232945 GRCh38 Chromosome 16, 68685280: 68685280
15 CDH3 NM_001793.5(CDH3): c.805A> C (p.Met269Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36038900 GRCh37 Chromosome 16, 68713815: 68713815
16 CDH3 NM_001793.5(CDH3): c.805A> C (p.Met269Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs36038900 GRCh38 Chromosome 16, 68679912: 68679912
17 CDH3 NM_001793.5(CDH3): c.-1085A> G single nucleotide variant Uncertain significance rs768872455 GRCh37 Chromosome 16, 68678198: 68678198
18 CDH3 NM_001793.5(CDH3): c.-1085A> G single nucleotide variant Uncertain significance rs768872455 GRCh38 Chromosome 16, 68644295: 68644295
19 CDH3 NM_001793.5(CDH3): c.-628G> A single nucleotide variant Uncertain significance rs796187375 GRCh38 Chromosome 16, 68644752: 68644752
20 CDH3 NM_001793.5(CDH3): c.-628G> A single nucleotide variant Uncertain significance rs796187375 GRCh37 Chromosome 16, 68678655: 68678655
21 CDH3 NM_001793.5(CDH3): c.-36C> T single nucleotide variant Uncertain significance rs373351410 GRCh38 Chromosome 16, 68645344: 68645344
22 CDH3 NM_001793.5(CDH3): c.-36C> T single nucleotide variant Uncertain significance rs373351410 GRCh37 Chromosome 16, 68679247: 68679247
23 CDH3 NM_001793.5(CDH3): c.318G> A (p.Lys106=) single nucleotide variant Uncertain significance rs886052229 GRCh38 Chromosome 16, 68678205: 68678205
24 CDH3 NM_001793.5(CDH3): c.318G> A (p.Lys106=) single nucleotide variant Uncertain significance rs886052229 GRCh37 Chromosome 16, 68712108: 68712108
25 CDH3 NM_001793.5(CDH3): c.390+5G> A single nucleotide variant Uncertain significance rs570628442 GRCh38 Chromosome 16, 68678282: 68678282
26 CDH3 NM_001793.5(CDH3): c.390+5G> A single nucleotide variant Uncertain significance rs570628442 GRCh37 Chromosome 16, 68712185: 68712185
27 CDH3 NM_001793.5(CDH3): c.720G> A (p.Thr240=) single nucleotide variant Benign rs2296409 GRCh38 Chromosome 16, 68679827: 68679827
28 CDH3 NM_001793.5(CDH3): c.720G> A (p.Thr240=) single nucleotide variant Benign rs2296409 GRCh37 Chromosome 16, 68713730: 68713730
29 CDH3 NM_001793.5(CDH3): c.1011G> C (p.Val337=) single nucleotide variant Uncertain significance rs201726457 GRCh38 Chromosome 16, 68682316: 68682316
30 CDH3 NM_001793.5(CDH3): c.1011G> C (p.Val337=) single nucleotide variant Uncertain significance rs201726457 GRCh37 Chromosome 16, 68716219: 68716219
31 CDH3 NM_001793.5(CDH3): c.1339G> A (p.Val447Ile) single nucleotide variant Uncertain significance rs145160881 GRCh38 Chromosome 16, 68684739: 68684739
32 CDH3 NM_001793.5(CDH3): c.1339G> A (p.Val447Ile) single nucleotide variant Uncertain significance rs145160881 GRCh37 Chromosome 16, 68718642: 68718642
33 CDH3 NM_001793.5(CDH3): c.1571-7C> G single nucleotide variant Uncertain significance rs373529822 GRCh38 Chromosome 16, 68687505: 68687505
34 CDH3 NM_001793.5(CDH3): c.1571-7C> G single nucleotide variant Uncertain significance rs373529822 GRCh37 Chromosome 16, 68721408: 68721408
35 CDH3 NM_001793.5(CDH3): c.1681G> A (p.Val561Met) single nucleotide variant Uncertain significance rs151198926 GRCh38 Chromosome 16, 68687622: 68687622
36 CDH3 NM_001793.5(CDH3): c.1681G> A (p.Val561Met) single nucleotide variant Uncertain significance rs151198926 GRCh37 Chromosome 16, 68721525: 68721525
37 CDH3 NM_001793.5(CDH3): c.2361C> T (p.Ser787=) single nucleotide variant Uncertain significance rs201352240 GRCh38 Chromosome 16, 68698271: 68698271
38 CDH3 NM_001793.5(CDH3): c.2361C> T (p.Ser787=) single nucleotide variant Uncertain significance rs201352240 GRCh37 Chromosome 16, 68732174: 68732174
39 CDH3 NM_001793.5(CDH3): c.*529G> A single nucleotide variant Uncertain significance rs886052235 GRCh38 Chromosome 16, 68698929: 68698929
40 CDH3 NM_001793.5(CDH3): c.*529G> A single nucleotide variant Uncertain significance rs886052235 GRCh37 Chromosome 16, 68732832: 68732832
41 CDH3 NM_001793.5(CDH3): c.-646_-645insA insertion Uncertain significance rs886052221 GRCh38 Chromosome 16, 68644734: 68644735
42 CDH3 NM_001793.5(CDH3): c.-646_-645insA insertion Uncertain significance rs886052221 GRCh37 Chromosome 16, 68678637: 68678638
43 CDH3 NM_001793.5(CDH3): c.-634_-633insG insertion Uncertain significance rs886052224 GRCh38 Chromosome 16, 68644746: 68644747
44 CDH3 NM_001793.5(CDH3): c.-634_-633insG insertion Uncertain significance rs886052224 GRCh37 Chromosome 16, 68678649: 68678650
45 CDH3 NM_001793.5(CDH3): c.-621G> A single nucleotide variant Uncertain significance rs886052225 GRCh38 Chromosome 16, 68644759: 68644759
46 CDH3 NM_001793.5(CDH3): c.-621G> A single nucleotide variant Uncertain significance rs886052225 GRCh37 Chromosome 16, 68678662: 68678662
47 CDH3 NM_001793.5(CDH3): c.-11T> C single nucleotide variant Uncertain significance rs370893872 GRCh38 Chromosome 16, 68645369: 68645369
48 CDH3 NM_001793.5(CDH3): c.-11T> C single nucleotide variant Uncertain significance rs370893872 GRCh37 Chromosome 16, 68679272: 68679272
49 CDH3 NM_001793.5(CDH3): c.867+6T> C single nucleotide variant Uncertain significance rs753122508 GRCh38 Chromosome 16, 68679980: 68679980
50 CDH3 NM_001793.5(CDH3): c.867+6T> C single nucleotide variant Uncertain significance rs753122508 GRCh37 Chromosome 16, 68713883: 68713883

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:

37
# Name Kegg Source Accession
1 Cell adhesion molecules (CAMs) hsa04514

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

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

3 CDC
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