MCID: MCR302
MIFTS: 18

Macrostomia, Isolated

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Macrostomia, Isolated

MalaCards integrated aliases for Macrostomia, Isolated:

Name: Macrostomia, Isolated 57
Macrostomia 57 59 13
Commissural Cleft, Isolated 57
Transverse Cleft, Isolated 57
Commissural Facial Cleft 59
Lateral Cleft, Isolated 57

Characteristics:

Orphanet epidemiological data:

59
commissural facial cleft
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal;

Classifications:



External Ids:

OMIM 57 613545
Orphanet 59 ORPHA141276
ICD10 via Orphanet 34 Q18.4
UMLS via Orphanet 74 C0024433
ICD10 33 Q18.4

Summaries for Macrostomia, Isolated

OMIM : 57 Macrostomia is a congenital defect resulting from persistent lateral facial clefts, caused by failure of the maxillary and mandibular portions of the first branchial arch to unite normally. Macrostomia is a rare anomaly, with an estimated incidence of 1 in 150,000 to 300,000 births and is most often associated with other anomalies. Unilateral macrostomia is more common than bilateral (summary by Hawkins et al., 1973). (613545)

MalaCards based summary : Macrostomia, Isolated, also known as macrostomia, is related to hypertelorism and ablepharon-macrostomia syndrome. An important gene associated with Macrostomia, Isolated is POGZ (Pogo Transposable Element Derived With ZNF Domain). Related phenotypes are Decreased shRNA abundance and Decreased shRNA abundance

Related Diseases for Macrostomia, Isolated

Graphical network of the top 20 diseases related to Macrostomia, Isolated:



Diseases related to Macrostomia, Isolated

Symptoms & Phenotypes for Macrostomia, Isolated

Clinical features from OMIM:

613545

GenomeRNAi Phenotypes related to Macrostomia, Isolated according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance GR00251-A-1 9.4 POGZ PTCH2 SPECC1L
2 Decreased shRNA abundance GR00251-A-2 9.4 SPECC1L POGZ PTCH2

Drugs & Therapeutics for Macrostomia, Isolated

Search Clinical Trials , NIH Clinical Center for Macrostomia, Isolated

Genetic Tests for Macrostomia, Isolated

Anatomical Context for Macrostomia, Isolated

Publications for Macrostomia, Isolated

Variations for Macrostomia, Isolated

ClinVar genetic disease variations for Macrostomia, Isolated:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 complex Pathogenic
2 46;X;t(X;12)(p11.2;q24.33)dn Translocation Likely pathogenic
3 FBN1 NM_000138.4(FBN1): c.5183C> T (p.Ala1728Val) single nucleotide variant Pathogenic/Likely pathogenic rs1131691804 GRCh37 Chromosome 15, 48755320: 48755320
4 FBN1 NM_000138.4(FBN1): c.5183C> T (p.Ala1728Val) single nucleotide variant Pathogenic/Likely pathogenic rs1131691804 GRCh38 Chromosome 15, 48463123: 48463123
5 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh37 Chromosome 1, 151378740: 151378740
6 POGZ NM_015100.3(POGZ): c.2771delC (p.Pro924Argfs) deletion Pathogenic GRCh38 Chromosome 1, 151406264: 151406264
7 subset of 25 genes:ELN GRCh37/hg19 7q11.23(chr7: 72772522-74133319) copy number loss Pathogenic GRCh37 Chromosome 7, 72772522: 74133319

Expression for Macrostomia, Isolated

Search GEO for disease gene expression data for Macrostomia, Isolated.

Pathways for Macrostomia, Isolated

GO Terms for Macrostomia, Isolated

Sources for Macrostomia, Isolated

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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