BCDS1
MCID: BLP047
MIFTS: 50

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 74
Blepharocheilodontic Syndrome 57 12 53 25 59 74 15
Elschnig Syndrome 57 53 25 59 74
Bcd Syndrome 57 53 25 59 74
Lagophthalmia with Bilateral Cleft Lip and Palate 57 53 25 74
Clefting, Ectropion, and Conical Teeth 57 53 25 74
Ectropion, Inferior, with Cleft Lip and/or Palate 57 25 74
Ectropion Inferior Cleft Lip and or Palate 53 29 6
Blepharo-Cheilo-Odontic Syndrome 12 25 59
Blepharo-Cheilo-Dontic Syndrome 53 25 72
Bcds 57 25 74
Bcds1 57 74
Ectropion Inferior-Cleft Lip and/or Palate Syndrome 59
Lagophthalmia-Cleft Lip and Palate Syndrome 59
Clefting-Ectropion-Conical Teeth Syndrome 59
Syndrome, Blepharocheilodontic, Type 1 40
Blepharocheilodontic Syndrome; Bcds 57
Syndrome, Blepharocheilodontic 40
Tooth Abnormalities 44

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:



External Ids:

Disease Ontology 12 DOID:0080344 DOID:0080345
ICD10 via Orphanet 34 Q87.8
UMLS via Orphanet 73 C1861536
Orphanet 59 ORPHA1997
UMLS 72 C1861536

Summaries for Blepharocheilodontic Syndrome 1

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). People with BCD syndrome have lower eyelids that turn out so that the inner surface is exposed (ectropion). The outside of the lower lid may sag away from the eye (euryblepharon), and the eyelids may not be able to close completely (lagophthalmia). There can be extra eyelashes (distichiasis) on the upper eyelids, ranging from a few extra eyelashes to a full extra set. These eyelashes do not grow along the edge of the eyelid with the normal lashes, but out of its inner lining. When the abnormal eyelashes touch the eyeball, they can cause damage to the clear covering of the eye (cornea). Affected individuals may also have widely spaced eyes (hypertelorism), a flat face, and a high forehead. Other features of BCD syndrome usually include openings on both sides of the upper lip (bilateral cleft lip) and an opening in the roof of the mouth (cleft palate). Affected individuals may have fewer teeth than normal (oligodontia) and their teeth are often smaller than usual and cone-shaped. The dental abnormalities affect both primary teeth (sometimes called "baby teeth") and secondary (permanent) teeth. Other frequent features include sparse, fine hair and abnormal nails. Occasionally people with BCD syndrome have additional features, including an obstruction of the anal opening (imperforate anus); malformation or absence of the butterfly-shaped gland in the lower neck called the thyroid, resulting in lack of thyroid gland function; or fused fingers or toes (syndactyly). Very rarely, affected individuals have incompletely formed arms or legs (limb reduction defects) or a spinal cord abnormality known as spina bifida.

MalaCards based summary : Blepharocheilodontic Syndrome 1, also known as blepharocheilodontic syndrome, is related to euryblepharon and distichiasis. 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. The drugs Cobalt and Nutrients have been mentioned in the context of this disorder. Affiliated tissues include eye, thyroid and spinal cord, 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.

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1997DefinitionBlepharo-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.

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 : 74 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

Diseases in the Blepharocheilodontic Syndrome 1 family:

Blepharocheilodontic Syndrome 2

Diseases related to Blepharocheilodontic Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Related Disease Score Top Affiliating Genes
1 euryblepharon 30.2 CTNND1 CDH1
2 distichiasis 30.0 CTNND1 CDH1
3 ectropion 29.9 CTNND1 CDH1
4 tooth agenesis 29.9 CTNND1 CDH1
5 blepharocheilodontic syndrome 2 12.8
6 bietti crystalline corneoretinal dystrophy 12.4
7 microcephalic osteodysplastic primordial dwarfism, type ii 11.2
8 hyper-ige recurrent infection syndrome 1, autosomal dominant 10.9
9 oculodentodigital dysplasia 10.9
10 epidermolysis bullosa, junctional, non-herlitz type 10.9
11 singleton-merten syndrome 10.9
12 cleft lip 10.3
13 cleft lip/palate 10.3
14 gastric cancer, hereditary diffuse 10.2
15 diffuse gastric cancer 10.2
16 eating disorder 10.2
17 anorectal anomalies 10.1
18 anus, imperforate 10.1
19 lagophthalmos 10.1
20 ectodermal dysplasia 10.1
21 teeth, supernumerary 10.1
22 hair whorl 10.0
23 leukemia, chronic lymphocytic 10.0
24 myeloma, multiple 10.0
25 osteogenic sarcoma 10.0
26 postaxial acrofacial dysostosis 10.0
27 taurodontism 10.0
28 yemenite deaf-blind hypopigmentation syndrome 10.0
29 anorexia nervosa 10.0
30 bulimia nervosa 10.0
31 myelomeningocele 10.0
32 acrofacial dysostosis 10.0
33 physical disorder 10.0
34 lymphocytic leukemia 10.0
35 hypothyroidism 10.0
36 viral hepatitis 10.0
37 dysostosis 10.0
38 hepatitis d 10.0
39 dermoid cyst 10.0
40 cystic teratoma 10.0
41 mature teratoma 10.0
42 retinal degeneration 10.0
43 night blindness 10.0
44 dwarfism 10.0
45 leukemia, b-cell, chronic 10.0
46 orofacial clefting syndrome 10.0
47 ichthyosis 9.9
48 hypotrichosis, congenital, with juvenile macular dystrophy 9.9 CDH17 CDH1
49 ankyloglossia with or without tooth anomalies 9.8
50 ichthyosis vulgaris 9.8

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:

59 32 (show all 26)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 distichiasis 59 32 hallmark (90%) Very frequent (99-80%) HP:0009743
2 ectropion of lower eyelids 59 32 hallmark (90%) Very frequent (99-80%) HP:0007651
3 bilateral cleft lip and palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0002744
4 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
5 finger syndactyly 59 32 frequent (33%) Frequent (79-30%) HP:0006101
6 carious teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000670
7 abnormality of vision 59 32 frequent (33%) Frequent (79-30%) HP:0000504
8 conductive hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000405
9 conical tooth 59 32 frequent (33%) Frequent (79-30%) HP:0000698
10 euryblepharon 59 32 frequent (33%) Frequent (79-30%) HP:0012905
11 abnormal hair quantity 59 32 occasional (7.5%) Occasional (29-5%) HP:0011362
12 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
13 epidermoid cyst 59 32 occasional (7.5%) Occasional (29-5%) HP:0200040
14 choanal atresia 32 very rare (1%) HP:0000453
15 high anterior hairline 32 very rare (1%) HP:0009890
16 cutaneous syndactyly 32 very rare (1%) HP:0012725
17 clinodactyly 32 HP:0030084
18 abnormality of the eye 59 Frequent (79-30%)
19 flat face 32 HP:0012368
20 abnormality of the eyelid 59 Very frequent (99-80%)
21 small nail 32 HP:0001792
22 cleft upper lip 32 HP:0000204
23 high forehead 32 HP:0000348
24 hypodontia 32 HP:0000668
25 sparse hair 32 HP:0008070
26 neural tube defect 32 HP:0045005

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

Drugs & Therapeutics for Blepharocheilodontic Syndrome 1

Drugs for Blepharocheilodontic Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cobalt Approved, Experimental Phase 1, Phase 2 7440-48-4 104729
2 Nutrients Phase 1, Phase 2
3 Micronutrients Phase 1, Phase 2
4 Trace Elements Phase 1, Phase 2
5 sodium fluoride Approved 7681-49-4
6
tannic acid Approved 1401-55-4
7
Benzocaine Approved, Investigational 94-09-7, 1994-09-7 2337
8
Calcium Approved, Nutraceutical 7440-70-2 271
9
Imidacloprid Vet_approved 105827-78-9 86418
10 Cariostatic Agents
11 Listerine
12 Fluorides
13 Protective Agents
14 Fluorides, Topical
15 Calcium, Dietary

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Outcomes of Interventions for Patients With a Reduced Posterior Dental Arch: A Randomized Controlled Trial Completed NCT01597206 Phase 1, Phase 2
2 An Evaluation of Vertical Augmentation of Alveolar Bone With Osteon at Dental Implant Placement Unknown status NCT01162629
3 Evaluation of a Low-fluoride Anticaries Toothpaste Containing an Innovative Calcium Technology Completed NCT01094210 Fluorides, Topical
4 Clinical Success of Artificial Root-End Barriers With Mineral Trioxide Aggregate in Teeth With Immature Apices Completed NCT00595842
5 Ideal Point of Transluminal Light in Tracheal Intubation With a Light Wand Completed NCT03480035
6 Clinical Evaluation of Internal Fit of Milled BioHPP Polyetheretherketone (PEEK) - Based Versus Zirconia-Based Single Crowns Not yet recruiting NCT04052789
7 One Year Clinical Evaluation of Milled BioHPP Polyetheretherketone (PEEK)-Based Versus Metal Ceramic Single Crowns Not yet recruiting NCT03685513

Search 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, Thyroid, Spinal Cord, Skin, Bone

Publications for Blepharocheilodontic Syndrome 1

Articles related to Blepharocheilodontic Syndrome 1:

(show all 18)
# Title Authors PMID Year
1
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. 38 8 71
28301459 2017
2
Exome sequencing-based identification of mutations in non-syndromic genes among individuals with apparently syndromic features. 8 71
27566442 2016
3
Imperforate anus is a rare associated finding in blepharocheilodontic syndrome. 38 8
20101698 2010
4
Preliminary molecular studies on blepharocheilodontic syndrome. 38 8
17937431 2007
5
Blepharocheilodontic syndrome or lagophthalmos: a child with overlapping features. 38 8
15930907 2005
6
Blepharo-cheilo-dontic (BCD) syndrome: expanding the phenotype, case report and review of literature. 8
24719364 2014
7
Blepharo-cheilo-dontic (BCD) syndrome with agenesis of thyroid broadens the phenotype and extends the discussion about the genes. 8
15389707 2004
8
Blepharocheilodontic (BCD) syndrome: expanding the phenotype? 8
12923869 2003
9
Blepharo-cheilo-dontic (BCD) syndrome in two Mexican patients. 8
10406669 1999
10
Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients. 8
9511975 1998
11
Blepharo-cheilo-dontic (BCD) syndrome. 8
8911600 1996
12
Distinct craniofacial syndrome of lagophthalmia and bilateral cleft lip and palate. 8
8588591 1995
13
Cleft lip/palate-oligodontia-syndactyly-hair alterations, a new syndrome: review of the conditions combining ectodermal dysplasia and cleft lip/palate. 8
3037904 1987
14
Familial clefting syndrome with ectropion and dental anomaly--without limb anomalies. 8
3995794 1985
15
Congenital ectropion and distichiasis; etiologic and hereditary factors: a report of cases and review of the literature. 8
13627093 1959
16
Variants in members of the cadherin-catenin complex, CDH1 and CTNND1, cause blepharocheilodontic syndrome. 38
29348693 2018
17
CDH1 Gene and Hereditary Diffuse Gastric Cancer Syndrome: Molecular and Histological Alterations and Implications for Diagnosis And Treatment. 38
30568591 2018
18
Blepharocheilodontic syndrome: surgical management of euryblepharon and nocturnal eyelid eversion. 38
15220581 2004

Variations for Blepharocheilodontic Syndrome 1

ClinVar genetic disease variations for Blepharocheilodontic Syndrome 1:

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

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

74
# Symbol AA change Variation ID SNP ID
1 CDH1 p.Asp254Tyr VAR_079392 rs155551544
2 CDH1 p.Asp257Val VAR_079393

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 CTNND1 CDH17 CDH1
2 11.66 CDH17 CDH1
3 11.63 CTNND1 CDH1
4 11.58 CDH17 CDH1
5 11.53 CDH17 CDH1
6
Show member pathways
11.52 CDH17 CDH1
7
Show member pathways
11.44 CTNND1 CDH1
8 11.31 CTNND1 CDH1
9 11.1 CTNND1 CDH1
10 11.05 CTNND1 CDH1
11 10.92 CTNND1 CDH1
12 10.9 CTNND1 CDH1
13 10.89 CTNND1 CDH17 CDH1
14 10.86 CTNND1 CDH1
15 10.67 CTNND1 CDH1
16 10.23 CTNND1 CDH1

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 CTNND1 CDH1
2 cell-cell adherens junction GO:0005913 9.13 CTNND1 CDH17 CDH1
3 catenin complex GO:0016342 8.8 CTNND1 CDH17 CDH1

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

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 CDH17 CDH1
2 cell adhesion molecule binding GO:0050839 8.96 CTNND1 CDH1
3 cadherin binding GO:0045296 8.8 CTNND1 CDH17 CDH1

Sources for Blepharocheilodontic Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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