OBLFC1
MCID: FCL047
MIFTS: 29

Facial Clefting, Oblique, 1 (OBLFC1)

Categories: Fetal diseases, Genetic diseases, Rare diseases

Aliases & Classifications for Facial Clefting, Oblique, 1

MalaCards integrated aliases for Facial Clefting, Oblique, 1:

Name: Facial Clefting, Oblique, 1 57 72 13
Oculomaxillofacial Dysplasia with Oblique Facial Clefts 57 72 6
Tessier Number 4 Facial Cleft 12 58
Oblfc1 57 72
Facial Clefting, Oblique, Type 1 39
Oculomaxillofacial Dysostosis 70
Oblique Facial Clefting 1 12
Oblique Facial Cleft 72
Orbitofacial Cleft 72

Characteristics:

Orphanet epidemiological data:

58
tessier number 4 facial cleft
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation
patient a had a balanced de novo reciprocal translocation t(1,22)(q21,q12) involving intron 14 of specc1l
two patients have been reported (last curated august 2017)


HPO:

31
facial clefting, oblique, 1:
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111706
OMIM® 57 600251
MeSH 44 D019767
ICD10 via Orphanet 33 Q18.8
Orphanet 58 ORPHA141258
MedGen 41 C1838348
UMLS 70 C1838348

Summaries for Facial Clefting, Oblique, 1

Disease Ontology : 12 An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has material basis in heterozygous mutation in SPECC1L on chromosome 22q11.23.

MalaCards based summary : Facial Clefting, Oblique, 1, also known as oculomaxillofacial dysplasia with oblique facial clefts, is related to oculomaxillofacial dysostosis and cleft palate, isolated. An important gene associated with Facial Clefting, Oblique, 1 is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). Affiliated tissues include eye, and related phenotypes are deep palmar crease and coloboma

OMIM® : 57 Oblique facial clefts are a rare form of orofacial clefting, comprising about 0.25% of all facial clefts. Two major types have been described classically: nasoocular and oroocular, the latter of which can be subdivided into oromedial-canthal and orolateral-canthal (summary by Dasouki et al., 1988). (600251) (Updated 05-Apr-2021)

UniProtKB/Swiss-Prot : 72 Facial clefting, oblique, 1: A rare form of facial clefting. A facial cleft is any of the fissures between the embryonic prominences that normally unite to form the face.

Related Diseases for Facial Clefting, Oblique, 1

Graphical network of the top 20 diseases related to Facial Clefting, Oblique, 1:



Diseases related to Facial Clefting, Oblique, 1

Symptoms & Phenotypes for Facial Clefting, Oblique, 1

Human phenotypes related to Facial Clefting, Oblique, 1:

31 (show all 6)
# Description HPO Frequency HPO Source Accession
1 deep palmar crease 31 occasional (7.5%) HP:0006191
2 coloboma 31 occasional (7.5%) HP:0000589
3 cleft palate 31 HP:0000175
4 cleft upper lip 31 HP:0000204
5 facial cleft 31 HP:0002006
6 talipes calcaneovalgus 31 HP:0001884

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Mouth:
cleft palate
cleft lip

Head And Neck Eyes:
coloboma (patient a)
ocular hypoplasia (patient a)

Skeletal Feet:
calcaneovarus (patient a)

Head And Neck Face:
orofacial clefting, oblique
oromedial-canthal clefting

Skeletal Hands:
deep palmar creases (patient a)

Clinical features from OMIM®:

600251 (Updated 05-Apr-2021)

Drugs & Therapeutics for Facial Clefting, Oblique, 1

Search Clinical Trials , NIH Clinical Center for Facial Clefting, Oblique, 1

Genetic Tests for Facial Clefting, Oblique, 1

Anatomical Context for Facial Clefting, Oblique, 1

MalaCards organs/tissues related to Facial Clefting, Oblique, 1:

40
Eye

Publications for Facial Clefting, Oblique, 1

Articles related to Facial Clefting, Oblique, 1:

# Title Authors PMID Year
1
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. 6 57
21703590 2011
2
Oblique facial clefts: report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity. 57
7856656 1994
3
Translocation (1;22) in a child with bilateral oblique facial clefts. 57
3398011 1988
4
Anatomical classification facial, cranio-facial and latero-facial clefts. 57
820824 1976
5
Treatment of a unilateral Tessier number 4 facial cleft in an adult: role of nasolabial V-Y advancement flap. 61
25445388 2015

Variations for Facial Clefting, Oblique, 1

ClinVar genetic disease variations for Facial Clefting, Oblique, 1:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SPECC1L-ADORA2A , SPECC1L NM_015330.5(SPECC1L):c.1244A>C (p.Gln415Pro) SNV Pathogenic 31101 rs387907108 GRCh37: 22:24718192-24718192
GRCh38: 22:24322224-24322224
2 SPECC1L-ADORA2A , SPECC1L NM_015330.6(SPECC1L):c.2454G>A (p.Leu818=) SNV Uncertain significance 1033768 GRCh37: 22:24730435-24730435
GRCh38: 22:24334467-24334467

UniProtKB/Swiss-Prot genetic disease variations for Facial Clefting, Oblique, 1:

72
# Symbol AA change Variation ID SNP ID
1 SPECC1L p.Gln415Pro VAR_066873 rs387907108

Expression for Facial Clefting, Oblique, 1

Search GEO for disease gene expression data for Facial Clefting, Oblique, 1.

Pathways for Facial Clefting, Oblique, 1

GO Terms for Facial Clefting, Oblique, 1

Cellular components related to Facial Clefting, Oblique, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoskeleton GO:0005856 9.26 SPECC1L-ADORA2A SPECC1L
2 cell junction GO:0030054 9.16 SPECC1L-ADORA2A SPECC1L
3 spindle GO:0005819 8.96 SPECC1L-ADORA2A SPECC1L
4 gap junction GO:0005921 8.62 SPECC1L-ADORA2A SPECC1L

Biological processes related to Facial Clefting, Oblique, 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell cycle GO:0007049 8.96 SPECC1L-ADORA2A SPECC1L
2 cell division GO:0051301 8.62 SPECC1L-ADORA2A SPECC1L

Sources for Facial Clefting, Oblique, 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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