MCID: FCL047
MIFTS: 21

Facial Clefting, Oblique, 1

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Facial Clefting, Oblique, 1

MalaCards integrated aliases for Facial Clefting, Oblique, 1:

Name: Facial Clefting, Oblique, 1 57 75 13
Oculomaxillofacial Dysplasia with Oblique Facial Clefts 57 75
Oblfc1 57 75
Facial Clefting, Oblique, Type 1 40
Oculomaxillofacial Dysostosis 73
Tessier Number 4 Facial Cleft 59
Oblique Facial Cleft 75
Orbitofacial Cleft 75

Characteristics:

Orphanet epidemiological data:

59
tessier number 4 facial cleft
Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
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:

32
facial clefting, oblique, 1:
Inheritance autosomal recessive inheritance sporadic


Classifications:



External Ids:

OMIM 57 600251
Orphanet 59 ORPHA141258
ICD10 via Orphanet 34 Q18.8
MedGen 42 C1838348
MeSH 44 D019767
UMLS 73 C1838348

Summaries for Facial Clefting, Oblique, 1

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)

MalaCards based summary : Facial Clefting, Oblique, 1, also known as oculomaxillofacial dysplasia with oblique facial clefts, is related to oculomaxillofacial dysostosis. An important gene associated with Facial Clefting, Oblique, 1 is SPECC1L (Sperm Antigen With Calponin Homology And Coiled-Coil Domains 1 Like). Related phenotypes are cleft palate and cleft upper lip

UniProtKB/Swiss-Prot : 75 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

Diseases related to Facial Clefting, Oblique, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 oculomaxillofacial dysostosis 11.4

Symptoms & Phenotypes for Facial Clefting, Oblique, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
orofacial clefting, oblique
oromedial-canthal clefting

Head And Neck Mouth:
cleft lip
cleft palate

Skeletal Feet:
calcaneovarus (patient a)

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

Skeletal Hands:
deep palmar creases (patient a)


Clinical features from OMIM:

600251

Human phenotypes related to Facial Clefting, Oblique, 1:

32 (show all 6)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 cleft upper lip 32 HP:0000204
3 coloboma 32 occasional (7.5%) HP:0000589
4 abnormality of the skeletal system 32 HP:0000924
5 facial cleft 32 HP:0002006
6 deep palmar crease 32 occasional (7.5%) HP:0006191

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

Publications for Facial Clefting, Oblique, 1

Articles related to Facial Clefting, Oblique, 1:

# Title Authors Year
1
Oblique facial clefts in Johanson-Blizzard syndrome. ( 26989884 )
2016
2
Functional Analysis of SPECC1L in Craniofacial Development and Oblique Facial Cleft Pathogenesis. ( 25357034 )
2014
3
Deficiency of the cytoskeletal protein SPECC1L leads to oblique facial clefting. ( 21703590 )
2011
4
[Skeleton reconstruction of oblique facial clefts using mandibular outer table]. ( 16011188 )
2005
5
Oblique facial clefting associated with unicoronal synostosis. ( 11358094 )
2001
6
Oblique facial clefts: a report of Tessier numbers 3, 4, 5, and 9 clefts. ( 8399272 )
1993
7
Translocation (1;22) in a child with bilateral oblique facial clefts. ( 3398011 )
1988

Variations for Facial Clefting, Oblique, 1

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

75
# Symbol AA change Variation ID SNP ID
1 SPECC1L p.Gln415Pro VAR_066873

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 SPECC1L NM_015330.4(SPECC1L): c.1244A> C (p.Gln415Pro) single nucleotide variant Pathogenic rs387907108 GRCh37 Chromosome 22, 24718192: 24718192
2 SPECC1L NM_015330.4(SPECC1L): c.1244A> C (p.Gln415Pro) single nucleotide variant Pathogenic rs387907108 GRCh38 Chromosome 22, 24322224: 24322224

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

Sources for Facial Clefting, Oblique, 1

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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