BCDS2
MCID: BLP049
MIFTS: 23

Blepharocheilodontic Syndrome 2 (BCDS2)

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

Aliases & Classifications for Blepharocheilodontic Syndrome 2

MalaCards integrated aliases for Blepharocheilodontic Syndrome 2:

Name: Blepharocheilodontic Syndrome 2 56 12 73 29 6
Bcds2 56 73
Syndrome, Blepharocheilodontic, Type 2 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance observed in some families


HPO:

31
blepharocheilodontic syndrome 2:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0080346
OMIM 56 617681
OMIM Phenotypic Series 56 PS119580

Summaries for Blepharocheilodontic Syndrome 2

UniProtKB/Swiss-Prot : 73 Blepharocheilodontic syndrome 2: 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.

MalaCards based summary : Blepharocheilodontic Syndrome 2, is also known as bcds2. An important gene associated with Blepharocheilodontic Syndrome 2 is CTNND1 (Catenin Delta 1). Affiliated tissues include thyroid, eye and skin, and related phenotypes are facial asymmetry and cutaneous syndactyly

Disease Ontology : 12 A blepharocheilodontic syndrome that has material basis in heterozygous mutation in the CTNND1 gene on chromosome 11q12.

More information from OMIM: 617681 PS119580

Related Diseases for Blepharocheilodontic Syndrome 2

Diseases in the Blepharocheilodontic Syndrome 1 family:

Blepharocheilodontic Syndrome 2

Symptoms & Phenotypes for Blepharocheilodontic Syndrome 2

Human phenotypes related to Blepharocheilodontic Syndrome 2:

31 (show all 10)
# Description HPO Frequency HPO Source Accession
1 facial asymmetry 31 very rare (1%) HP:0000324
2 cutaneous syndactyly 31 very rare (1%) HP:0012725
3 hypertelorism 31 HP:0000316
4 flat face 31 HP:0012368
5 high forehead 31 HP:0000348
6 reduced number of teeth 31 HP:0009804
7 distichiasis 31 HP:0009743
8 ectropion of lower eyelids 31 HP:0007651
9 conical tooth 31 HP:0000698
10 euryblepharon 31 HP:0012905

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
ectropion of lower eyelids
lagophthalmia (incomplete closure of eyelids)
distichiasis (double row of eyelashes)
euryblepharon (enlargement of the palpebral aperture)

Skin Nails Hair Hair:
distichiasis

Skeletal Hands:
syndactyly, cutaneous (in some patients)

Head And Neck Face:
flat face
high forehead
facial asymmetry (in some patients)

Head And Neck Teeth:
conical teeth
tooth agenesis

Endocrine Features:
thyroid hypoplasia or aplasia (rare)

Clinical features from OMIM:

617681

Drugs & Therapeutics for Blepharocheilodontic Syndrome 2

Search Clinical Trials , NIH Clinical Center for Blepharocheilodontic Syndrome 2

Genetic Tests for Blepharocheilodontic Syndrome 2

Genetic tests related to Blepharocheilodontic Syndrome 2:

# Genetic test Affiliating Genes
1 Blepharocheilodontic Syndrome 2 29 CTNND1

Anatomical Context for Blepharocheilodontic Syndrome 2

MalaCards organs/tissues related to Blepharocheilodontic Syndrome 2:

40
Thyroid, Eye, Skin

Publications for Blepharocheilodontic Syndrome 2

Articles related to Blepharocheilodontic Syndrome 2:

# Title Authors PMID Year
1
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1. 56 6
28301459 2017
2
A genome-wide significant association on chromosome 15 for congenital entropion in Swiss White Alpine sheep. 61
31945208 2020

Variations for Blepharocheilodontic Syndrome 2

ClinVar genetic disease variations for Blepharocheilodontic Syndrome 2:

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CTNND1 NM_001085458.2(CTNND1):c.2098C>T (p.Arg700Ter)SNV Pathogenic 438815 rs1277132301 11:57575868-57575868 11:57808396-57808396
2 CTNND1 NM_001085458.2(CTNND1):c.1093C>T (p.Gln365Ter)SNV Pathogenic 438816 rs1555057581 11:57569341-57569341 11:57801869-57801869
3 CTNND1 NM_001085458.2(CTNND1):c.606del (p.Pro203fs)deletion Pathogenic 438817 rs1555053981 11:57564113-57564113 11:57796641-57796641
4 CTNND1 NM_001085458.2(CTNND1):c.2572C>T (p.Arg858Ter)SNV Pathogenic 800854 11:57578892-57578892 11:57811420-57811420

Expression for Blepharocheilodontic Syndrome 2

Search GEO for disease gene expression data for Blepharocheilodontic Syndrome 2.

Pathways for Blepharocheilodontic Syndrome 2

GO Terms for Blepharocheilodontic Syndrome 2

Sources for Blepharocheilodontic Syndrome 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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