CAASDS
MCID: CRN210
MIFTS: 16

Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome (CAASDS)

Categories: Genetic diseases

Aliases & Classifications for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

MalaCards integrated aliases for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome:

Name: Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 56 73 29 13 6 71
Caasds 56 73

Characteristics:

HPO:

31
craniofacial anomalies and anterior segment dysgenesis syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 614195
MeSH 43 D019465
UMLS 71 C3280099

Summaries for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

UniProtKB/Swiss-Prot : 73 Craniofacial anomalies and anterior segment dysgenesis syndrome: A disorder with extremely variable expressivity. Clinical features include wide interpupillary distance, abnormal corneal endothelium, unusual pinnae, partially to completely empty sella turcica, posterior fossa cyst, anterior encephalocele, and/or hydrocephalus.

MalaCards based summary : Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome, is also known as caasds. An important gene associated with Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome is VSX1 (Visual System Homeobox 1). Affiliated tissues include endothelial, and related phenotypes are hypertelorism and hydrocephalus

More information from OMIM: 614195

Related Diseases for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Symptoms & Phenotypes for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Human phenotypes related to Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 31 HP:0000316
2 hydrocephalus 31 HP:0000238
3 abnormal electroretinogram 31 HP:0000512
4 posterior fossa cyst 31 HP:0007291
5 abnormality of the outer ear 31 HP:0000356
6 ocular anterior segment dysgenesis 31 HP:0007700
7 anterior encephalocele 31 HP:0007035
8 abnormal corneal endothelium morphology 31 HP:0011488

Clinical features from OMIM:

614195

Drugs & Therapeutics for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Search Clinical Trials , NIH Clinical Center for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Genetic Tests for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Genetic tests related to Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome:

# Genetic test Affiliating Genes
1 Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome 29 VSX1

Anatomical Context for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

MalaCards organs/tissues related to Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome:

40
Endothelial

Publications for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Articles related to Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome:

# Title Authors PMID Year
1
VSX1 (RINX) mutation with craniofacial anomalies, empty sella, corneal endothelial changes, and abnormal retinal and auditory bipolar cells. 56 6
15051220 2004

Variations for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

ClinVar genetic disease variations for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome:

6 ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 VSX1 NM_001256271.1(VSX1):c.627+1102G>TSNV Pathogenic 5250 rs74315435 20:25058363-25058363 20:25077727-25077727

UniProtKB/Swiss-Prot genetic disease variations for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 VSX1 p.Ala256Ser VAR_066672 rs74315435

Expression for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Search GEO for disease gene expression data for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome.

Pathways for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

GO Terms for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

Sources for Craniofacial Anomalies and Anterior Segment Dysgenesis Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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