Aliases & Classifications for Eec Syndrome

MalaCards integrated aliases 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:



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 limb-mammary syndrome and ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1, and has symptoms including short stature, entropion and choanal atresia. An important gene associated with Eec Syndrome is TP63 (Tumor Protein P63), and among its related pathways/superpathways is DNA Damage Response (only ATM dependent). The drugs Alginic acid and Anesthetics have 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 44)
id Related Disease Score Top Affiliating Genes
1 limb-mammary syndrome 29.6 SATB2 TP63
2 ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 11.4
3 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3 11.4
4 hartsfield syndrome 11.3
5 ectodermal dysplasia 10.4
6 cleft lip 10.2
7 lathosterolosis 10.2 SATB2 TP63
8 cleft lip/palate 10.1
9 tooth agenesis, selective, 8 10.1 TP63 WNT10B
10 cardiomyopathy, familial hypertrophic, 9 10.0 TP63 WNT10B
11 congenital absence of both forearm and hand 10.0 TP63 WNT10B
12 torsion dystonia 13 10.0 TP63 WNT10B
13 sonoda syndrome 10.0 TP63 WNT10B
14 simosa craniofacial syndrome 9.9 SATB2 TP63
15 lower limb deficiency-hypospadias syndrome 9.9 TP63 WNT10B
16 split hand-foot malformation 2 9.9 TP63 WNT10B
17 thanatophoric dysplasia, type ii 9.9 SATB2 TP63
18 adult syndrome 9.8
19 2-hydroxyglutaric aciduria 9.8 SATB2 TP63
20 primary congenital glaucoma 9.7 SATB2 WNT10B
21 split-hand/foot malformation 4 9.7 PPP2R5C SATB2 TP63
22 lymphoma 9.6
23 split hand 9.6
24 microphthalmia 9.6
25 oligohydramnios 9.6
26 anodontia 9.6
27 hypogonadism 9.6
28 diabetes insipidus 9.6
29 freire-maia odontotrichomelic syndrome 9.6
30 tetralogy of fallot 9.6
31 hydrops fetalis 9.6
32 anophthalmia/microphthalmia 9.6
33 trigeminal neuralgia 9.6
34 abdominal wall defect 9.6
35 b-cell lymphomas 9.6
36 breast reconstruction 9.6
37 monosomy 21 9.6
38 split hand-split foot malformation 9.6
39 orofacial cleft 9.6
40 split foot 9.6
41 myasthenic syndrome, congenital, 2a, slow-channel 9.6 SATB2 TP63
42 hay-wells syndrome 9.5 SATB2 TP63 WNT10B
43 hypotrichosis 7 9.4 PSPC1 SATB2 TP63
44 hypomyelinating leukodystrophy 8.2 PPP2R5C 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 short stature 32 occasional (7.5%) HP:0004322
2 entropion 32 occasional (7.5%) HP:0000621
3 choanal atresia 32 occasional (7.5%) HP:0000453
4 cleft palate 32 occasional (7.5%) HP:0000175
5 hypospadias 32 occasional (7.5%) HP:0000047
6 hydronephrosis 32 frequent (33%) HP:0000126
7 intellectual disability 32 occasional (7.5%) HP:0001249
8 photophobia 32 frequent (33%) HP:0000613
9 hyperkeratosis 32 hallmark (90%) HP:0000962
10 vesicoureteral reflux 32 occasional (7.5%) HP:0000076
11 finger syndactyly 32 occasional (7.5%) HP:0006101
12 toe syndactyly 32 occasional (7.5%) HP:0001770
13 dry skin 32 hallmark (90%) HP:0000958
14 coarse hair 32 hallmark (90%) HP:0002208
15 growth hormone deficiency 32 occasional (7.5%) HP:0000824
16 fine hair 32 occasional (7.5%) HP:0002213
17 slow-growing hair 32 frequent (33%) HP:0002217
18 lymphoma 32 occasional (7.5%) HP:0002665
19 microdontia 32 hallmark (90%) HP:0000691
20 hypohidrosis 32 occasional (7.5%) HP:0000966
21 sensorineural hearing impairment 32 occasional (7.5%) HP:0000407
22 nail dystrophy 32 hallmark (90%) HP:0008404
23 blepharitis 32 frequent (33%) HP:0000498
24 xerostomia 32 occasional (7.5%) HP:0000217
25 nail pits 32 hallmark (90%) HP:0001803
26 split foot 32 hallmark (90%) HP:0001839
27 keratitis 32 frequent (33%) HP:0000491
28 split hand 32 hallmark (90%) HP:0001171
29 carious teeth 32 hallmark (90%) HP:0000670
30 urethral atresia 32 frequent (33%) HP:0000068
31 renal hypoplasia/aplasia 32 frequent (33%) HP:0008678
32 taurodontia 32 hallmark (90%) HP:0000679
33 generalized hypopigmentation 32 frequent (33%) HP:0007513
34 external ear malformation 32 occasional (7.5%) HP:0008572
35 thick eyebrow 32 hallmark (90%) HP:0000574
36 corneal erosion 32 frequent (33%) HP:0200020
37 aplasia/hypoplasia of the nipples 32 occasional (7.5%) HP:0006709
38 nevus 32 occasional (7.5%) HP:0003764
39 aplasia/hypoplasia of the skin 32 frequent (33%) HP:0008065
40 abnormality of dental enamel 32 hallmark (90%) HP:0000682
41 hypoplasia of the thymus 32 occasional (7.5%) HP:0000778
42 lacrimation abnormality 32 hallmark (90%) HP:0000632
43 reduced number of teeth 32 hallmark (90%) HP:0009804
44 proximal placement of thumb 32 occasional (7.5%) HP:0009623
45 aplasia/hypoplasia of the thumb 32 occasional (7.5%) HP:0009601
46 abnormality of the middle ear 32 occasional (7.5%) HP:0000370
47 aplasia/hypoplasia of the breasts 32 occasional (7.5%) HP:0010311
48 sparse and thin eyebrow 32 hallmark (90%) 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
Alginic acid Approved, Experimental 9005-32-7
2 Anesthetics

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Evaluation of Dry Eye by Tear Film Imager in a Low Humidity Environmental Exposure Chamber (TFI-LH16) Completed NCT03061578
2 The Trial of Pessary After Laser for TTTS Recruiting NCT01334489
3 Efficacy of a Novel MAD in OSA Recruiting NCT03196583
4 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 88)
id Title Authors Year
1
Prenatal diagnosis of Ectrodactyly-Ectodermal dysplasia-Cleft (EEC) syndrome in a Chinese woman with a TP63 mutation. ( 28420484 )
2017
2
Intermediate Phenotype between ADULT Syndrome and EEC Syndrome Caused by R243Q Mutation in TP63. ( 28293528 )
2016
3
Correction of mutant p63 in EEC syndrome using siRNA mediated allele specific silencing restores defective stem cell function. ( 26891374 )
2016
4
Two case reports with literature review of the EEC syndrome: Clinical presentation and management. ( 27252974 )
2015
5
Ectrodactyly, Ectodermal Dysplasia, Cleft Lip, and Palate (EEC Syndrome) with Tetralogy of Fallot: A Very Rare Combination. ( 26137453 )
2015
6
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
7
Ectrodactyly-ectodermal dysplasia clefting syndrome (EEC syndrome). ( 25737931 )
2014
8
Ectrodactyly Ectodermal Dysplasia Clefting (EEC) Syndrome: A Rare Cause of Congenital Lacrimal Anomalies. ( 24801258 )
2014
9
Ectrodactyly-ectodermal dysplasia-cleft syndrome (EEC syndrome) with a developmental delay caused by R304W mutation in the tp63 gene. ( 24734328 )
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
Two interesting cases of EEC syndrome. ( 25737881 )
2013
13
EEC syndrome with a de novo mutation (c.953g > a) on exon 7 of P63 gene: a case report. ( 23431748 )
2012
14
Development of an allele-specific real-time PCR assay for discrimination and quantification of p63 R279H mutation in EEC syndrome. ( 22056627 )
2012
15
Prenatal Diagnosis of EEC Syndrome with "Lobster Claw" Anomaly by 3D Ultrasound. ( 22919554 )
2012
16
Ectrodactyly, ectodermal dysplasia, and cleft lip-palate (EEC) syndrome without clefting: a rare case report. ( 22398226 )
2012
17
EEC syndrome-like phenotype in a patient with an IRF6 mutation. ( 22488974 )
2012
18
Ectrodactyly, ectodermal dysplasia, cleft lip, and palate (EEC syndrome). ( 22919225 )
2012
19
Phenotypic analysis of Arg227 mutations of TP63 with emphasis on dental phenotype and micturition difficulties in EEC syndrome. ( 21204238 )
2011
20
White sponge nevus in a patient with EEC syndrome. ( 20492824 )
2010
21
Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate (EEC) syndrome. ( 20681222 )
2010
22
The EEC syndrome and SHFM: report of two cases and mutation analysis of p63 gene. ( 21434540 )
2010
23
Do you know this syndrome? Ectrodactyly - ectodermal dysplasia - cleft lip/palate(EEC) syndrome. ( 20944926 )
2010
24
ADULT syndrome caused by a mutation previously associated with EEC syndrome. ( 21078104 )
2010
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
EEC syndrome. ( 17322619 )
2007
28
Breast reconstruction using deep inferior epigastric perforator flaps in EEC syndrome. ( 16817257 )
2006
29
Lobster-claw hand: a manifestation of EEC syndrome. ( 16481713 )
2006
30
A case of EEC syndrome with peri/intraoral papillomatosis and widespread freckling. ( 16620233 )
2006
31
An unusual combination of EEC syndrome and hypomelanosis Ito due to a p63 mutation. ( 15889277 )
2005
32
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
33
TP63 mutation and clefting modifier genes in an EEC syndrome family. ( 15324320 )
2004
34
EEC syndrome type 3 with a heterozygous germline mutation in the P63 gene and B cell lymphoma. ( 12838557 )
2003
35
EEC syndrome--a case report. ( 14700339 )
2003
36
Ectrodactyly, ectodermal dysplasia and clefting (EEC) syndrome. ( 12702090 )
2003
37
Analysis of the p63 gene in classical EEC syndrome, related syndromes, and non-syndromic orofacial clefts. ( 12161593 )
2002
38
EEC syndrome (ectrodactyly-ectodermal dysplasia-clefting): a clinical case report. ( 11985198 )
2001
39
p63 gene mutations in EEC syndrome, limb-mammary syndrome, and isolated split hand-split foot malformation suggest a genotype- phenotype correlation. ( 11462173 )
2001
40
A de novo mutation (R279C) in the P63 gene in a patient with EEC syndrome. ( 11683779 )
2001
41
Heterozygous germline missense mutation in the p63 gene underlying EEC syndrome. ( 11012604 )
2000
42
Counseling dilemmas in EEC syndrome. ( 10756423 )
2000
43
Heterozygous germline mutations in the p53 homolog p63 are the cause of EEC syndrome. ( 10535733 )
1999
44
Ocular manifestations in a father and son with EEC syndrome. ( 9285221 )
1997
45
What syndrome is this? Ectrodactyly, ectodermal dysplasia, and cleft palate (EEC) syndrome. ( 9192423 )
1997
46
Amniotic bands and the EEC syndrome. ( 9125326 )
1996
47
Ectrodactyly-ectodermal dysplasia--clefting (EEC) syndrome. ( 8859102 )
1996
48
Absent meibomian glands: a marker for EEC syndrome. ( 8796162 )
1996
49
Rectal atresia as rare manifestation in EEC syndrome. ( 8723108 )
1996
50
The EEC syndrome: a literature study. ( 8723561 )
1996

Variations for Eec Syndrome

Expression for Eec Syndrome

Search GEO for disease gene expression data for Eec Syndrome.

Pathways for Eec Syndrome

Pathways related to Eec Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.68 PPP2R5C WNT10B

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 negative regulation of transcription from RNA polymerase II promoter GO:0000122 9.43 SATB2 TP63 WNT10B
2 chromatin remodeling GO:0006338 9.16 SATB2 TP63
3 positive regulation of osteoblast differentiation GO:0045669 8.96 TP63 WNT10B
4 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 HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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