BCDS2
MCID: BLP049
MIFTS: 19

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 58 12 76 30 6
Bcds2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
incomplete penetrance observed in some families


Classifications:



External Ids:

Disease Ontology 12 DOID:0080346
OMIM 58 617681

Summaries for Blepharocheilodontic Syndrome 2

UniProtKB/Swiss-Prot : 76 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, and related phenotypes are facial asymmetry and hypertelorism

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

Human phenotypes related to Blepharocheilodontic Syndrome 2:

33 (show all 9)
# Description HPO Frequency HPO Source Accession
1 facial asymmetry 33 very rare (1%) HP:0000324
2 hypertelorism 33 HP:0000316
3 flat face 33 HP:0012368
4 reduced number of teeth 33 HP:0009804
5 high forehead 33 HP:0000348
6 distichiasis 33 HP:0009743
7 ectropion of lower eyelids 33 HP:0007651
8 conical tooth 33 HP:0000698
9 euryblepharon 33 HP:0012905

Symptoms via clinical synopsis from OMIM:

58
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 30 CTNND1

Anatomical Context for Blepharocheilodontic Syndrome 2

MalaCards organs/tissues related to Blepharocheilodontic Syndrome 2:

42
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 rs1277132301 GRCh38 Chromosome 11, 57808396: 57808396
2 CTNND1 NM_001085458.1(CTNND1): c.2098C> T (p.Arg700Ter) single nucleotide variant Pathogenic rs1277132301 GRCh37 Chromosome 11, 57575868: 57575868
3 CTNND1 NM_001085458.1(CTNND1): c.1093C> T (p.Gln365Ter) single nucleotide variant Pathogenic rs1555057581 GRCh38 Chromosome 11, 57801869: 57801869
4 CTNND1 NM_001085458.1(CTNND1): c.1093C> T (p.Gln365Ter) single nucleotide variant Pathogenic rs1555057581 GRCh37 Chromosome 11, 57569341: 57569341
5 CTNND1 NM_001085458.1(CTNND1): c.606del (p.Pro203Leufs) deletion Pathogenic rs1555053981 GRCh37 Chromosome 11, 57564114: 57564114
6 CTNND1 NM_001085458.1(CTNND1): c.606del (p.Pro203Leufs) deletion Pathogenic rs1555053981 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 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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