MCID: MTP038
MIFTS: 6

Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Categories: Bone diseases, Eye diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

MalaCards integrated aliases for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome:

Name: Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome 58 6

Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Orphanet 58 ORPHA502430

Summaries for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

MalaCards based summary : Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome An important gene associated with Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome is ZNF462 (Zinc Finger Protein 462). Affiliated tissues include eye.

Related Diseases for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Symptoms & Phenotypes for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Drugs & Therapeutics for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Search Clinical Trials , NIH Clinical Center for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Genetic Tests for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Anatomical Context for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

MalaCards organs/tissues related to Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome:

40
Eye

Publications for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Articles related to Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome:

# Title Authors PMID Year
1
Phenotype delineation of ZNF462 related syndrome. 6
31361404 2019

Variations for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

ClinVar genetic disease variations for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZNF462 NM_021224.6(ZNF462):c.6631del (p.Arg2211fs) Deletion Likely pathogenic 977141 GRCh37: 9:109734488-109734488
GRCh38: 9:106972207-106972207

Expression for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Search GEO for disease gene expression data for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome.

Pathways for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

GO Terms for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

Sources for Metopic Ridging-Ptosis-Facial Dysmorphism Syndrome

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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