MCID: ECS001
MIFTS: 39

Eec Syndrome malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Eec Syndrome

Aliases & Descriptions for Eec Syndrome:

Name: Eec Syndrome 12 50 24 24 14
Rudiger Syndrome 1 12 50 69
Walker-Clodius Syndrome 12 50
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip-Palate Syndrome 12
Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/palate Syndrome 24
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/palate Syndrome 50
Ectrodactyly-Ectodermal Dysplasia-Cleft Lip/cleft Palate 50
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 50
Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome 24
Ectrodactyly-Ectodermal Dysplasia-Clefting Syndrome 12
Ectrodactyly-Cleft Lip/palate Syndrome 50

Classifications:



External Ids:

Disease Ontology 12 DOID:0060782
ICD10 33 Q82.4
UMLS 69 C0406704

Summaries for Eec Syndrome

NIH Rare Diseases : 50 eec syndrome (ectrodactyly-ectodermal dysplasia-cleft lip/palate) is a rare form of ectodermal dysplasia. the symptoms can vary from mild to severe and most commonly include missing or irregular fingers and/or toes (ectrodactyly or split hand/foot malformation); abnormalities of the hair and glands; cleft lip and/or palate; distinctive facial features; and abnormalities of the eyes and urinary tract. eec syndrome can be divided into two different types defined by the underlying cause. more than 90% of individuals have eec syndrome type 3 (eec3), caused by mutations in the tp63 gene. the of individuals with eec syndrome are thought to have a mutation in a region on chromosome 7, known as eec syndrome type 1 (eec1). eec syndrome is inherited in an autosomal dominant manner. management typically requires evaluation by various specialists. treatment varies depending on the signs and symptoms present in the affected individual. last updated: 4/11/2016

MalaCards based summary : Eec Syndrome, also known as rudiger syndrome 1, is related to adult syndrome and ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, and has symptoms including photophobia, dry skin and finger syndactyly. An important gene associated with Eec Syndrome is TP63 (Tumor Protein P63). The drug Anesthetics has been mentioned in the context of this disorder. Affiliated tissues include eye, skin and breast.

Disease Ontology : 12 An autosomal dominant disease characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate).

Related Diseases for Eec Syndrome

Diseases related to Eec Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
id Related Disease Score Top Affiliating Genes
1 adult syndrome 29.8 SATB2 TP63
2 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.4
3 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 11.4
4 hartsfield syndrome 11.3
5 ectodermal dysplasia 10.4
6 cleft lip 10.2
7 cleft lip/palate 10.1
8 gaze palsy, horizontal, with progressive scoliosis 10.1 SATB2 TP63
9 differentiated thyroid carcinoma 10.0 SATB2 TP63
10 amenorrhea 10.0 SATB2 TP63
11 rapp-hodgkin syndrome 10.0 SATB2 TP63
12 orofacial cleft 6 10.0 SATB2 TP63
13 congenital absence of both lower leg and foot 10.0 TP63 WNT10B
14 saddan 10.0 SATB2 TP63
15 hereditary lymphedema 9.9 SATB2 TP63
16 familial abdominal aortic aneurysm 9.9 EEC1 TP63
17 myasthenic syndrome, congenital, 2c, associated with acetylcholine receptor deficiency 9.9 SATB2 TP63
18 angiocentric glioma 9.9 TP63 WNT10B
19 congenital absence/hypoplasia of thumb 9.9 TP63 WNT10B
20 spondylocostal dysostosis 3 9.9 TP63 WNT10B
21 3mc syndrome 1 9.9 PSPC1 SATB2 TP63
22 chronic ethmoiditis 9.9 EEC1 SATB2 TP63
23 fibrous dysplasia 9.8 SATB2 TP63
24 taeniasis 9.7 SATB2 TP63 WNT10B
25 alpha thalassemia-x-linked intellectual disability syndrome 9.7 SATB2 TP63 WNT10B
26 microphthalmia 9.6
27 oligohydramnios 9.6
28 anodontia 9.6
29 hypogonadism 9.6
30 diabetes insipidus 9.6
31 limb-mammary syndrome 9.6
32 freire-maia odontotrichomelic syndrome 9.6
33 tetralogy of fallot 9.6
34 hydrops fetalis 9.6
35 anophthalmia/microphthalmia 9.6
36 trigeminal neuralgia 9.6
37 abdominal wall defect 9.6
38 b-cell lymphomas 9.6
39 breast reconstruction 9.6
40 monosomy 21 9.6
41 split hand-split foot malformation 9.6
42 orofacial cleft 9.6
43 split foot 9.6
44 lymphoma 9.6
45 split hand 9.6
46 hypomyelinating leukodystrophy 13 9.3 EEC1 PSPC1 SATB2 TP63 WNT10B

Graphical network of the top 20 diseases related to Eec Syndrome:



Diseases related to Eec Syndrome

Symptoms & Phenotypes for Eec Syndrome

Human phenotypes related to Eec Syndrome:

32 (show all 48)
id Description HPO Frequency HPO Source Accession
1 photophobia 32 HP:0000613
2 dry skin 32 HP:0000958
3 finger syndactyly 32 HP:0006101
4 intellectual disability 32 HP:0001249
5 carious teeth 32 HP:0000670
6 sensorineural hearing impairment 32 HP:0000407
7 thick eyebrow 32 HP:0000574
8 coarse hair 32 HP:0002208
9 short stature 32 HP:0004322
10 cleft palate 32 HP:0000175
11 hyperkeratosis 32 HP:0000962
12 nail dystrophy 32 HP:0008404
13 corneal erosion 32 HP:0200020
14 microdontia 32 HP:0000691
15 hypohidrosis 32 HP:0000966
16 aplasia/hypoplasia of the nipples 32 HP:0006709
17 nevus 32 HP:0003764
18 keratitis 32 HP:0000491
19 blepharitis 32 HP:0000498
20 hypospadias 32 HP:0000047
21 renal hypoplasia/aplasia 32 HP:0008678
22 xerostomia 32 HP:0000217
23 aplasia/hypoplasia of the skin 32 HP:0008065
24 vesicoureteral reflux 32 HP:0000076
25 abnormality of dental enamel 32 HP:0000682
26 hypoplasia of the thymus 32 HP:0000778
27 choanal atresia 32 HP:0000453
28 lacrimation abnormality 32 HP:0000632
29 taurodontia 32 HP:0000679
30 fine hair 32 HP:0002213
31 generalized hypopigmentation 32 HP:0007513
32 reduced number of teeth 32 HP:0009804
33 split hand 32 HP:0001171
34 lymphoma 32 HP:0002665
35 toe syndactyly 32 HP:0001770
36 external ear malformation 32 HP:0008572
37 proximal placement of thumb 32 HP:0009623
38 hydronephrosis 32 HP:0000126
39 urethral atresia 32 HP:0000068
40 aplasia/hypoplasia of the thumb 32 HP:0009601
41 abnormality of the middle ear 32 HP:0000370
42 nail pits 32 HP:0001803
43 slow-growing hair 32 HP:0002217
44 aplasia/hypoplasia of the breasts 32 HP:0010311
45 split foot 32 HP:0001839
46 growth hormone deficiency 32 HP:0000824
47 entropion 32 HP:0000621
48 sparse and thin eyebrow 32 HP:0000535

Drugs & Therapeutics for Eec Syndrome

Drugs for Eec Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Anesthetics

Interventional clinical trials:


id Name Status NCT ID Phase
1 Evaluation of Dry Eye by Tear Film Imager in a Low Humidity Environmental Exposure Chamber (TFI-LH16) Recruiting NCT03061578
2 The Trial of Pessary After Laser for TTTS Recruiting NCT01334489
3 Biomarkers in Samples From Patients With Endometrial Cancer Not yet recruiting NCT01199250

Search NIH Clinical Center for Eec Syndrome

Genetic Tests for Eec Syndrome

Genetic tests related to Eec Syndrome:

id Genetic test Affiliating Genes
1 Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome (non-Tp63-Related) 24
2 Ectrodactyly, Ectodermal Dysplasia, Clefting Syndrome 24 TP63

Anatomical Context for Eec Syndrome

MalaCards organs/tissues related to Eec Syndrome:

39
Eye, Skin, Breast, Thymus, B Cells

Publications for Eec Syndrome

Articles related to Eec Syndrome:

(show top 50) (show all 87)
id Title Authors Year
1
Correction of mutant p63 in EEC syndrome using siRNA mediated allele specific silencing restores defective stem cell function. ( 26891374 )
2016
2
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. ( 28293528 )
2016
3
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. ( 26137453 )
2015
4
A novel c.1037C > G (p.Ala346Gly) mutation in TP63 as cause of the ectrodactyly-ectodermal dysplasia and cleft lip/palate (EEC) syndrome. ( 25983622 )
2015
5
Two case reports with literature review of the EEC syndrome: Clinical presentation and management. ( 27252974 )
2015
6
Ectrodactyly Ectodermal Dysplasia Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies. ( 24801258 )
2014
7
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). ( 25737931 )
2014
8
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. ( 24734328 )
2013
9
Two interesting cases of EEC syndrome. ( 25737881 )
2013
10
An allelic series of Trp63 mutations defines TAp63 as a modifier of EEC syndrome. ( 23775923 )
2013
11
APR-246/PRIMA-1(MET) rescues epidermal differentiation in skin keratinocytes derived from EEC syndrome patients with p63 mutations. ( 23355676 )
2013
12
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. ( 23431748 )
2012
13
Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound. ( 22919554 )
2012
14
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). ( 22919225 )
2012
15
EEC syndrome-like phenotype in a patient with an IRF6 mutation. ( 22488974 )
2012
16
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. ( 22056627 )
2012
17
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report. ( 22398226 )
2012
18
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. ( 21204238 )
2011
19
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. ( 21434540 )
2010
20
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
21
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. ( 20681222 )
2010
22
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. ( 20944926 )
2010
23
White sponge nevus in a patient with EEC syndrome. ( 20492824 )
2010
24
EEC syndrome. ( 17322619 )
2007
25
EEC syndrome sans clefting: variable clinical presentations in a family. ( 17314449 )
2007
26
EEC syndrome, Arg227Gln TP63 mutation and micturition difficulties: Is there a genotype-phenotype correlation? ( 17431922 )
2007
27
Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome. ( 16817257 )
2006
28
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. ( 16620233 )
2006
29
Lobster-claw hand: a manifestation of EEC syndrome. ( 16481713 )
2006
30
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. ( 15889277 )
2005
31
Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome presenting with a large nephrogenic cyst, severe oligohydramnios and hydrops fetalis: a case report and review of the literature. ( 15791665 )
2005
32
TP63 mutation and clefting modifier genes in an EEC syndrome family. ( 15324320 )
2004
33
Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. ( 12702090 )
2003
34
EEC syndrome--a case report. ( 14700339 )
2003
35
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. ( 12838557 )
2003
36
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. ( 12161593 )
2002
37
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. ( 11462173 )
2001
38
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. ( 11985198 )
2001
39
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. ( 11683779 )
2001
40
Counseling dilemmas in EEC syndrome. ( 10756423 )
2000
41
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. ( 11012604 )
2000
42
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. ( 10535733 )
1999
43
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. ( 9192423 )
1997
44
Ocular manifestations in a father and son with EEC syndrome. ( 9285221 )
1997
45
Absent meibomian glands: a marker for EEC syndrome. ( 8796162 )
1996
46
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. ( 8859102 )
1996
47
Amniotic bands and the EEC syndrome. ( 9125326 )
1996
48
Rectal atresia as rare manifestation in EEC syndrome. ( 8723108 )
1996
49
The EEC syndrome: a literature study. ( 8723561 )
1996
50
EEC syndrome and genitourinary anomalies: an update. ( 8737655 )
1996

Variations for Eec Syndrome

Expression for Eec Syndrome

Search GEO for disease gene expression data for Eec Syndrome.

Pathways for Eec Syndrome

GO Terms for Eec Syndrome

Cellular components related to Eec Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription factor complex GO:0005667 8.96 SATB2 TP63
2 nuclear matrix GO:0016363 8.62 PSPC1 SATB2

Biological processes related to Eec Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.5 SATB2 TP63 WNT10B
2 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.43 SATB2 TP63 WNT10B
3 chromatin remodeling GO:0006338 9.16 SATB2 TP63
4 positive regulation of osteoblast differentiation GO:0045669 8.96 TP63 WNT10B
5 cellular response to organic substance GO:0071310 8.62 SATB2 WNT10B

Sources for Eec Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....