BCDS1
MCID: BLP047
MIFTS: 44

Blepharocheilodontic Syndrome 1 (BCDS1)

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

Aliases & Classifications for Blepharocheilodontic Syndrome 1

MalaCards integrated aliases for Blepharocheilodontic Syndrome 1:

Name: Blepharocheilodontic Syndrome 1 58 12 76
Blepharocheilodontic Syndrome 58 12 54 26 60 76 15
Elschnig Syndrome 58 54 26 60 76
Bcd Syndrome 58 54 26 60 76
Lagophthalmia with Bilateral Cleft Lip and Palate 58 54 26 76
Clefting, Ectropion, and Conical Teeth 58 54 26 76
Ectropion, Inferior, with Cleft Lip and/or Palate 58 26 76
Ectropion Inferior Cleft Lip and or Palate 54 30 6
Blepharo-Cheilo-Odontic Syndrome 12 26 60
Blepharo-Cheilo-Dontic Syndrome 54 26 74
Bcds 58 26 76
Bcds1 58 76
Ectropion Inferior-Cleft Lip and/or Palate Syndrome 60
Lagophthalmia-Cleft Lip and Palate Syndrome 60
Clefting-Ectropion-Conical Teeth Syndrome 60
Blepharocheilodontic Syndrome; Bcds 58
Syndrome, Blepharocheilodontic 41
Tooth Abnormalities 45

Characteristics:

Orphanet epidemiological data:

60
blepharo-cheilo-odontic syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance observed in some families


HPO:

33
blepharocheilodontic syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blepharocheilodontic Syndrome 1

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1997Disease definitionBlepharo-cheilo-odontic syndrome is an ectodermal dysplasia syndrome characterized by the association of abnormalities of the eyelids, lips, and teeth.EpidemiologyPrevalence is unknown. Over 50 cases have been described in literature to date.Clinical descriptionBlepharo-cheilo-odontic syndrome is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. Additional occasional features include hypertelorism, lagophthalmos, imperforate anus, and syndactyly.EtiologyEtiology is unknown.Genetic counselingTransmission is autosomal dominant with 100% penetrance.Visit the Orphanet disease page for more resources.

MalaCards based summary : Blepharocheilodontic Syndrome 1, also known as blepharocheilodontic syndrome, is related to euryblepharon and blepharocheilodontic syndrome 2. An important gene associated with Blepharocheilodontic Syndrome 1 is CDH1 (Cadherin 1), and among its related pathways/superpathways are Cell junction organization and Presenilin-Mediated Signaling. Affiliated tissues include eye, skin and thyroid, and related phenotypes are distichiasis and ectropion of lower eyelids

Disease Ontology : 12 A syndrome that is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth.

Genetics Home Reference : 26 Blepharocheilodontic (BCD) syndrome is a disorder that is present at birth. It mainly affects the eyelids (blepharo-), upper lip (-cheilo-), and teeth (-dontic).

OMIM : 58 The blepharocheilodontic syndrome is a rare autosomal dominant disorder characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and conical teeth. An additional rare manifestation is imperforate anus (summary by Weaver et al., 2010). (119580)

UniProtKB/Swiss-Prot : 76 Blepharocheilodontic syndrome 1: A form of blepharocheilodontic syndrome, a rare autosomal dominant disorder. It is characterized by lower eyelid ectropion, upper eyelid distichiasis, euryblepharon, bilateral cleft lip and palate, and features of ectodermal dysplasia, including hair anomalies, conical teeth and tooth agenesis. An additional rare manifestation is imperforate anus. There is considerable phenotypic variability among affected individuals.

Related Diseases for Blepharocheilodontic Syndrome 1

Graphical network of the top 20 diseases related to Blepharocheilodontic Syndrome 1:



Diseases related to Blepharocheilodontic Syndrome 1

Symptoms & Phenotypes for Blepharocheilodontic Syndrome 1

Human phenotypes related to Blepharocheilodontic Syndrome 1:

60 33 (show all 24)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distichiasis 60 33 hallmark (90%) Very frequent (99-80%) HP:0009743
2 ectropion of lower eyelids 60 33 hallmark (90%) Very frequent (99-80%) HP:0007651
3 bilateral cleft lip and palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0002744
4 hypertelorism 60 33 frequent (33%) Frequent (79-30%) HP:0000316
5 finger syndactyly 60 33 frequent (33%) Frequent (79-30%) HP:0006101
6 carious teeth 60 33 frequent (33%) Frequent (79-30%) HP:0000670
7 abnormality of vision 60 33 frequent (33%) Frequent (79-30%) HP:0000504
8 conductive hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000405
9 conical tooth 60 33 frequent (33%) Frequent (79-30%) HP:0000698
10 euryblepharon 60 33 frequent (33%) Frequent (79-30%) HP:0012905
11 abnormal hair quantity 60 33 occasional (7.5%) Occasional (29-5%) HP:0011362
12 anal atresia 60 33 occasional (7.5%) Occasional (29-5%) HP:0002023
13 epidermoid cyst 60 33 occasional (7.5%) Occasional (29-5%) HP:0200040
14 high anterior hairline 33 very rare (1%) HP:0009890
15 cutaneous syndactyly 33 very rare (1%) HP:0012725
16 clinodactyly 33 HP:0030084
17 abnormality of the eye 60 Frequent (79-30%)
18 flat face 33 HP:0012368
19 abnormality of the eyelid 60 Very frequent (99-80%)
20 small nail 33 HP:0001792
21 high forehead 33 HP:0000348
22 hypodontia 33 HP:0000668
23 cleft upper lip 33 HP:0000204
24 sparse hair 33 HP:0008070

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
ectropion of lower eyelids
lagophthalmia (incomplete closure of eyelids)
megaloblepharon
distichiasis (double row of eyelashes)

Head And Neck Face:
flat face
high forehead
asymmetric face (in some patients)
high anterior hairline (in some patients)

Skin Nails Hair Hair:
distichiasis
sparse hair

Head And Neck Nose:
choanal atresia (rare)

Abdomen Gastrointestinal:
imperforate anus (in some patients)

Endocrine Features:
thyroid hypoplasia or agenesis (uncommon)

Skeletal Hands:
clinodactyly
syndactyly, cutaneous (in some patients)

Head And Neck Teeth:
hypodontia
conical teeth
delayed dentition (rare)

Skin Nails Hair Nails:
hypoplastic nails

Head And Neck Mouth:
cleft lip and/or palate

Neurologic Central Nervous System:
neural tube defect (uncommon)

Clinical features from OMIM:

119580

Drugs & Therapeutics for Blepharocheilodontic Syndrome 1

Search Clinical Trials , NIH Clinical Center for Blepharocheilodontic Syndrome 1

Cochrane evidence based reviews: tooth abnormalities

Genetic Tests for Blepharocheilodontic Syndrome 1

Genetic tests related to Blepharocheilodontic Syndrome 1:

# Genetic test Affiliating Genes
1 Ectropion Inferior Cleft Lip and or Palate 30 CDH1

Anatomical Context for Blepharocheilodontic Syndrome 1

MalaCards organs/tissues related to Blepharocheilodontic Syndrome 1:

42
Eye, Skin, Thyroid, Colon

Publications for Blepharocheilodontic Syndrome 1

Articles related to Blepharocheilodontic Syndrome 1:

# Title Authors Year
1
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. ( 29348693 )
2018
2
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. ( 28301459 )
2017
3
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features. ( 27566442 )
2016
4
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. ( 20101698 )
2010
5
Preliminary molecular studies on blepharocheilodontic syndrome. ( 17937431 )
2007
6
Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features. ( 15930907 )
2005
7
Blepharocheilodontic syndrome: surgical management of euryblepharon and nocturnal eyelid eversion. ( 15220581 )
2004

Variations for Blepharocheilodontic Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Blepharocheilodontic Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 CDH1 p.Asp254Tyr VAR_079392
2 CDH1 p.Asp257Val VAR_079393

ClinVar genetic disease variations for Blepharocheilodontic Syndrome 1:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH1 NM_004360.4(CDH1): c.1370C> T (p.Thr457Met) single nucleotide variant Uncertain significance rs587778170 GRCh37 Chromosome 16, 68849467: 68849467
2 CDH1 NM_004360.4(CDH1): c.1370C> T (p.Thr457Met) single nucleotide variant Uncertain significance rs587778170 GRCh38 Chromosome 16, 68815564: 68815564
3 CDH1 NM_004360.5(CDH1): c.2474C> T (p.Pro825Leu) single nucleotide variant Uncertain significance rs587781312 GRCh37 Chromosome 16, 68867227: 68867227
4 CDH1 NM_004360.5(CDH1): c.2474C> T (p.Pro825Leu) single nucleotide variant Uncertain significance rs587781312 GRCh38 Chromosome 16, 68833324: 68833324
5 CDH1 NM_004360.5(CDH1): c.2398C> T (p.Arg800Cys) single nucleotide variant Uncertain significance rs587782162 GRCh37 Chromosome 16, 68863659: 68863659
6 CDH1 NM_004360.5(CDH1): c.2398C> T (p.Arg800Cys) single nucleotide variant Uncertain significance rs587782162 GRCh38 Chromosome 16, 68829756: 68829756
7 CDH1 NM_004360.4(CDH1): c.1147C> T (p.Gln383Ter) single nucleotide variant Pathogenic rs587782798 GRCh37 Chromosome 16, 68847225: 68847225
8 CDH1 NM_004360.4(CDH1): c.1147C> T (p.Gln383Ter) single nucleotide variant Pathogenic rs587782798 GRCh38 Chromosome 16, 68813322: 68813322
9 CDH1 NM_004360.4(CDH1): c.377C> T (p.Pro126Leu) single nucleotide variant Uncertain significance rs746703615 GRCh37 Chromosome 16, 68835786: 68835786
10 CDH1 NM_004360.4(CDH1): c.377C> T (p.Pro126Leu) single nucleotide variant Uncertain significance rs746703615 GRCh38 Chromosome 16, 68801883: 68801883
11 CDH1 NM_004360.4(CDH1): c.1171G> A (p.Val391Ile) single nucleotide variant Uncertain significance rs556110297 GRCh37 Chromosome 16, 68847249: 68847249
12 CDH1 NM_004360.4(CDH1): c.1171G> A (p.Val391Ile) single nucleotide variant Uncertain significance rs556110297 GRCh38 Chromosome 16, 68813346: 68813346
13 CDH1 NM_004360.4(CDH1): c.1250A> G (p.Asn417Ser) single nucleotide variant Uncertain significance rs773441320 GRCh37 Chromosome 16, 68847328: 68847328
14 CDH1 NM_004360.4(CDH1): c.1250A> G (p.Asn417Ser) single nucleotide variant Uncertain significance rs773441320 GRCh38 Chromosome 16, 68813425: 68813425
15 CDH1 NM_004360.5(CDH1): c.1774G> T (p.Ala592Ser) single nucleotide variant Uncertain significance rs35187787 GRCh37 Chromosome 16, 68855966: 68855966
16 CDH1 NM_004360.5(CDH1): c.1774G> T (p.Ala592Ser) single nucleotide variant Uncertain significance rs35187787 GRCh38 Chromosome 16, 68822063: 68822063
17 CDH1 NM_004360.4(CDH1): c.2595G> C (p.Trp865Cys) single nucleotide variant Uncertain significance rs778019174 GRCh38 Chromosome 16, 68833445: 68833445
18 CDH1 NM_004360.4(CDH1): c.2595G> C (p.Trp865Cys) single nucleotide variant Uncertain significance rs778019174 GRCh37 Chromosome 16, 68867348: 68867348
19 CDH1 NM_004360.4(CDH1): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs876658932 GRCh37 Chromosome 16, 68835629: 68835629
20 CDH1 NM_004360.4(CDH1): c.220C> T (p.Arg74Ter) single nucleotide variant Pathogenic rs876658932 GRCh38 Chromosome 16, 68801726: 68801726
21 CDH1 NM_004360.3(CDH1): c.1320+1G> C single nucleotide variant Pathogenic rs886039685 GRCh37 Chromosome 16, 68847399: 68847399
22 CDH1 NM_004360.3(CDH1): c.1320+1G> C single nucleotide variant Pathogenic rs886039685 GRCh38 Chromosome 16, 68813496: 68813496
23 CDH1 NM_004360.4(CDH1): c.1320G> T (p.Lys440Asn) single nucleotide variant Pathogenic rs1555515925 GRCh37 Chromosome 16, 68847398: 68847398
24 CDH1 NM_004360.4(CDH1): c.1320G> T (p.Lys440Asn) single nucleotide variant Pathogenic rs1555515925 GRCh38 Chromosome 16, 68813495: 68813495
25 CDH1 NM_004360.4(CDH1): c.760G> T (p.Asp254Tyr) single nucleotide variant Pathogenic rs1555515445 GRCh37 Chromosome 16, 68844172: 68844172
26 CDH1 NM_004360.4(CDH1): c.760G> T (p.Asp254Tyr) single nucleotide variant Pathogenic rs1555515445 GRCh38 Chromosome 16, 68810269: 68810269
27 CDH1 NM_004360.4(CDH1): c.2028C> A (p.Asp676Glu) single nucleotide variant Pathogenic rs1555517099 GRCh38 Chromosome 16, 68823490: 68823490
28 CDH1 NM_004360.4(CDH1): c.2028C> A (p.Asp676Glu) single nucleotide variant Pathogenic rs1555517099 GRCh37 Chromosome 16, 68857393: 68857393
29 CDH1 NM_004360.4(CDH1): c.1843A> G (p.Ile615Val) single nucleotide variant Uncertain significance rs1003012321 GRCh37 Chromosome 16, 68856035: 68856035
30 CDH1 NM_004360.4(CDH1): c.1843A> G (p.Ile615Val) single nucleotide variant Uncertain significance rs1003012321 GRCh38 Chromosome 16, 68822132: 68822132

Expression for Blepharocheilodontic Syndrome 1

Search GEO for disease gene expression data for Blepharocheilodontic Syndrome 1.

Pathways for Blepharocheilodontic Syndrome 1

Pathways related to Blepharocheilodontic Syndrome 1 according to GeneCards Suite gene sharing:

(show all 16)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.16 CDH1 CDH17 CTNND1
2 11.66 CDH1 CDH17
3 11.61 CDH1 CTNND1
4 11.58 CDH1 CDH17
5 11.53 CDH1 CDH17
6
Show member pathways
11.52 CDH1 CDH17
7
Show member pathways
11.44 CDH1 CTNND1
8 11.31 CDH1 CTNND1
9 11.1 CDH1 CTNND1
10 11.05 CDH1 CTNND1
11 10.92 CDH1 CTNND1
12 10.92 CDH1 CTNND1
13 10.89 CDH1 CDH17 CTNND1
14 10.86 CDH1 CTNND1
15 10.67 CDH1 CTNND1
16 10.23 CDH1 CTNND1

GO Terms for Blepharocheilodontic Syndrome 1

Cellular components related to Blepharocheilodontic Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lamellipodium GO:0030027 9.16 CDH1 CTNND1
2 cell-cell adherens junction GO:0005913 9.13 CDH1 CDH17 CTNND1
3 catenin complex GO:0016342 8.8 CDH1 CDH17 CTNND1

Biological processes related to Blepharocheilodontic Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 9.58 CDH1 CDH17 CTNND1
2 homophilic cell adhesion via plasma membrane adhesion molecules GO:0007156 9.43 CDH1 CDH17
3 cell-cell adhesion GO:0098609 9.43 CDH1 CDH17 CTNND1
4 calcium-dependent cell-cell adhesion via plasma membrane cell adhesion molecules GO:0016339 9.37 CDH1 CDH17
5 cell-cell adhesion mediated by cadherin GO:0044331 9.32 CDH1 CDH17
6 entry of bacterium into host cell GO:0035635 9.16 CDH1 CTNND1
7 cell-cell junction assembly GO:0007043 9.13 CDH1 CDH17 CTNND1
8 adherens junction organization GO:0034332 8.8 CDH1 CDH17 CTNND1

Molecular functions related to Blepharocheilodontic Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeletal protein binding GO:0008092 9.16 CDH1 CDH17
2 cell adhesion molecule binding GO:0050839 8.96 CDH1 CTNND1
3 cadherin binding GO:0045296 8.8 CDH1 CDH17 CTNND1

Sources for Blepharocheilodontic Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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