BCDS2
MCID: BLP049
MIFTS: 21

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 57 12 75 29 6
Bcds2 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance observed in some families


Classifications:



External Ids:

OMIM 57 617681
Disease Ontology 12 DOID:0080346

Summaries for Blepharocheilodontic Syndrome 2

UniProtKB/Swiss-Prot : 75 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 skin, eye and thyroid, and related phenotypes are hypertelorism and flat face

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

Description from OMIM: 617681

Related Diseases for Blepharocheilodontic Syndrome 2

Diseases in the Blepharocheilodontic Syndrome 1 family:

Blepharocheilodontic Syndrome 2

Symptoms & Phenotypes for Blepharocheilodontic Syndrome 2

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Blepharocheilodontic Syndrome 2:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 flat face 32 HP:0012368
3 reduced number of teeth 32 HP:0009804
4 high forehead 32 HP:0000348
5 facial asymmetry 32 very rare (1%) HP:0000324
6 distichiasis 32 HP:0009743
7 ectropion of lower eyelids 32 HP:0007651
8 conical tooth 32 HP:0000698
9 euryblepharon 32 HP:0012905

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:

41
Skin, Eye, Thyroid

Publications for Blepharocheilodontic Syndrome 2

Variations for Blepharocheilodontic Syndrome 2

ClinVar genetic disease variations for Blepharocheilodontic Syndrome 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CTNND1 NM_001085458.1(CTNND1): c.2098C> T (p.Arg700Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 57808396: 57808396
2 CTNND1 NM_001085458.1(CTNND1): c.2098C> T (p.Arg700Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 57575868: 57575868
3 CTNND1 NM_001085458.1(CTNND1): c.1093C> T (p.Gln365Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 11, 57801869: 57801869
4 CTNND1 NM_001085458.1(CTNND1): c.1093C> T (p.Gln365Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 11, 57569341: 57569341
5 CTNND1 NM_001085458.1(CTNND1): c.606delT (p.Pro203Leufs) deletion Pathogenic GRCh37 Chromosome 11, 57564114: 57564114
6 CTNND1 NM_001085458.1(CTNND1): c.606delT (p.Pro203Leufs) deletion Pathogenic GRCh38 Chromosome 11, 57796642: 57796642

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 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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