MCID: ART113
MIFTS: 8

Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Categories: Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

MalaCards integrated aliases for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability:

Name: Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability 54
Familial Syndrome of Right-Sided Aortic Arch, Mental Deficiency, and Facial Dysmorphism 54
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome 54
Aortic Arch Anomaly-Peculiar Facies-Intellectual Disability Syndrome 54

Classifications:



Summaries for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 1110Disease definitionAortic arch anomaly-peculiar facies-intellectual disabilitysyndrome is a developmental anomaly characterized at birth by the presence of right-sided aortic arch, craniofacial dysmorphism (microcephaly, asymmetric, facial bones, broad forehead, borderline hypertelorism, nasal septum deviation, large nasal cavity, large, posteriorly rotated ears, and microstomia with downturned corners), and intellectual disability. These features were observed in 4 members of one family, involving 2 successive generations, suggesting an autosomal dominant mode of transmission. There have been no further descriptions in the literature since 1968.Visit the Orphanet disease page for more resources.

MalaCards based summary : Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability, also known as familial syndrome of right-sided aortic arch, mental deficiency, and facial dysmorphism, is related to aortic arch anomaly with peculiar facies and mental retardation. Affiliated tissues include bone.

Related Diseases for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Diseases related to Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aortic arch anomaly with peculiar facies and mental retardation 11.7

Symptoms & Phenotypes for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Drugs & Therapeutics for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Search Clinical Trials , NIH Clinical Center for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Genetic Tests for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Anatomical Context for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

MalaCards organs/tissues related to Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability:

42
Bone

Publications for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Variations for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Expression for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Search GEO for disease gene expression data for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability.

Pathways for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

GO Terms for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

Sources for Aortic Arch Anomaly - Peculiar Facies - Intellectual Disability

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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