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 57 53 29
Aughton Syndrome 53 73
Dextrocardia, Microphthalmia, Cleft Palate, Choreoathetosis and Mental Retardation 53

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Dextrocardia with Unusual Facies and Microphthalmia:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 32 HP:0001249
2 macrotia 32 HP:0000400
3 abnormal facial shape 32 HP:0001999
4 cleft palate 32 HP:0000175
5 micrognathia 32 HP:0000347
6 microphthalmia 32 HP:0000568
7 vertebral segmentation defect 32 HP:0003422
8 choreoathetosis 32 HP:0001266
9 vertebral fusion 32 HP:0002948
10 supernumerary ribs 32 HP:0005815
11 sloping forehead 32 HP:0000340
12 anophthalmia 32 HP:0000528
13 dextrocardia 32 HP:0001651
14 prominent nose 32 HP:0000448

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 29

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 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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