MCID: DXT003
MIFTS: 19

Dextrocardia with Unusual Facies and Microphthalmia

Categories: Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Dextrocardia with Unusual Facies and Microphthalmia

MalaCards integrated aliases for Dextrocardia with Unusual Facies and Microphthalmia:

Name: Dextrocardia with Unusual Facies and Microphthalmia 58 54 30
Aughton Syndrome 54 74
Dextrocardia, Microphthalmia, Cleft Palate, Choreoathetosis and Mental Retardation 54

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
dextrocardia with unusual facies and microphthalmia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Dextrocardia with Unusual Facies and Microphthalmia

MalaCards based summary : Dextrocardia with Unusual Facies and Microphthalmia, also known as aughton syndrome, is related to cleft palate, isolated and microphthalmia. Related phenotypes are intellectual disability and macrotia

Description from OMIM: 221950

Related Diseases for Dextrocardia with Unusual Facies and Microphthalmia

Diseases related to Dextrocardia with Unusual Facies and Microphthalmia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cleft palate, isolated 10.5
2 microphthalmia 10.5
3 dextrocardia 10.5

Symptoms & Phenotypes for Dextrocardia with Unusual Facies and Microphthalmia

Human phenotypes related to Dextrocardia with Unusual Facies and Microphthalmia:

33 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 33 HP:0001249
2 macrotia 33 HP:0000400
3 abnormal facial shape 33 HP:0001999
4 cleft palate 33 HP:0000175
5 micrognathia 33 HP:0000347
6 microphthalmia 33 HP:0000568
7 vertebral segmentation defect 33 HP:0003422
8 choreoathetosis 33 HP:0001266
9 vertebral fusion 33 HP:0002948
10 supernumerary ribs 33 HP:0005815
11 sloping forehead 33 HP:0000340
12 anophthalmia 33 HP:0000528
13 dextrocardia 33 HP:0001651
14 prominent nose 33 HP:0000448

Symptoms via clinical synopsis from OMIM:

58
H E E N T:
cleft palate
micrognathia
microphthalmia
sloping forehead
anophthalmia
more
Radiology:
supernumerary ribs
vertebral fusion defects

Limbs:
plantar folding

Neuro:
choreoathetosis
mental retardation

Cardiac:
dextrocardia

Clinical features from OMIM:

221950

Drugs & Therapeutics for Dextrocardia with Unusual Facies and Microphthalmia

Search Clinical Trials , NIH Clinical Center for Dextrocardia with Unusual Facies and Microphthalmia

Genetic Tests for Dextrocardia with Unusual Facies and Microphthalmia

Genetic tests related to Dextrocardia with Unusual Facies and Microphthalmia:

# Genetic test Affiliating Genes
1 Dextrocardia with Unusual Facies and Microphthalmia 30

Anatomical Context for Dextrocardia with Unusual Facies and Microphthalmia

Publications for Dextrocardia with Unusual Facies and Microphthalmia

Articles related to Dextrocardia with Unusual Facies and Microphthalmia:

# Title Authors Year
1
Dextrocardia, microphthalmia, cleft palate, choreoathetosis, and mental retardation in an infant born to consanguineous parents. ( 1609828 )
1992

Variations for Dextrocardia with Unusual Facies and Microphthalmia

Expression for Dextrocardia with Unusual Facies and Microphthalmia

Search GEO for disease gene expression data for Dextrocardia with Unusual Facies and Microphthalmia.

Pathways for Dextrocardia with Unusual Facies and Microphthalmia

GO Terms for Dextrocardia with Unusual Facies and Microphthalmia

Sources for Dextrocardia with Unusual Facies and Microphthalmia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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