BCDS1
MCID: BLP047
MIFTS: 45

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 57 12 75
Blepharocheilodontic Syndrome 57 12 53 25 59 75 15
Bcd Syndrome 57 53 25 59 75
Lagophthalmia with Bilateral Cleft Lip and Palate 57 53 25 75
Clefting, Ectropion, and Conical Teeth 57 53 25 75
Elschnig Syndrome 57 53 25 75
Ectropion, Inferior, with Cleft Lip and/or Palate 57 25 75
Ectropion Inferior Cleft Lip and or Palate 53 29 6
Blepharo-Cheilo-Odontic Syndrome 12 25 59
Blepharo-Cheilo-Dontic Syndrome 53 25 73
Bcds 57 25 75
Bcds1 57 75
Ectropion Inferior-Cleft Lip and/or Palate Syndrome 59
Lagophthalmia-Cleft Lip and Palate Syndrome 59
Clefting-Ectropion-Conical Teeth Syndrome 59
Blepharocheilodontic Syndrome; Bcds 57
Syndrome, Blepharocheilodontic 40
Tooth Abnormalities 44
Elsching Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
blepharo-cheilo-odontic syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance observed in some families


HPO:

32
blepharocheilodontic syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Blepharocheilodontic Syndrome 1

NIH Rare Diseases : 53 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 hypertelorism and finger syndactyly

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

OMIM : 57 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 : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Blepharocheilodontic Syndrome 1:

59 32 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
3 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
4 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
5 abnormal hair quantity 59 32 occasional (7.5%) Occasional (29-5%) HP:0011362
6 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
7 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
8 distichiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0009743
9 ectropion of lower eyelids 59 32 hallmark (90%) Very frequent (99-80%) HP:0007651
10 bilateral cleft lip and palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002744
11 conical tooth 59 32 frequent (33%) Frequent (79-30%) HP:0000698
12 euryblepharon 59 32 frequent (33%) Frequent (79-30%) HP:0012905
13 clinodactyly 32 HP:0030084
14 abnormality of the eye 59 Frequent (79-30%)
15 flat face 32 HP:0012368
16 abnormality of the eyelid 59 Very frequent (99-80%)
17 small nail 32 HP:0001792
18 high forehead 32 HP:0000348
19 hypodontia 32 HP:0000668
20 cleft upper lip 32 HP:0000204
21 sparse hair 32 HP:0008070
22 high anterior hairline 32 very rare (1%) HP:0009890
23 epidermal cyst 59 Occasional (29-5%)
24 cutaneous syndactyly 32 very rare (1%) HP:0012725
25 epidermoid cyst 32 occasional (7.5%) HP:0200040

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 29 CDH1

Anatomical Context for Blepharocheilodontic Syndrome 1

MalaCards organs/tissues related to Blepharocheilodontic Syndrome 1:

41
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
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. ( 20101698 )
2010
4
Preliminary molecular studies on blepharocheilodontic syndrome. ( 17937431 )
2007
5
Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features. ( 15930907 )
2005
6
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:

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 CDH1 NM_004360.4(CDH1): c.1320+1G> C single nucleotide variant Pathogenic rs886039685 GRCh37 Chromosome 16, 68847399: 68847399
2 CDH1 NM_004360.4(CDH1): c.1320+1G> C single nucleotide variant Pathogenic rs886039685 GRCh38 Chromosome 16, 68813496: 68813496
3 CDH1 NM_004360.4(CDH1): c.1320G> T (p.Lys440Asn) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 68847398: 68847398
4 CDH1 NM_004360.4(CDH1): c.1320G> T (p.Lys440Asn) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 68813495: 68813495
5 CDH1 NM_004360.4(CDH1): c.760G> T (p.Asp254Tyr) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 68844172: 68844172
6 CDH1 NM_004360.4(CDH1): c.760G> T (p.Asp254Tyr) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 68810269: 68810269
7 CDH1 NM_004360.4(CDH1): c.2028C> A (p.Asp676Glu) single nucleotide variant Pathogenic GRCh38 Chromosome 16, 68823490: 68823490
8 CDH1 NM_004360.4(CDH1): c.2028C> A (p.Asp676Glu) single nucleotide variant Pathogenic GRCh37 Chromosome 16, 68857393: 68857393

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
12.23 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 11.08 CDH1 CTNND1
10 11.01 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 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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