MCID: ART139
MIFTS: 9

Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Aliases & Classifications for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

MalaCards integrated aliases for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma:

Name: Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma 56

Characteristics:

OMIM:

56
Inheritance:
? autosomal dominant


HPO:

31
aortic arch interruption, facial palsy, and retinal coloboma:
Inheritance autosomal dominant inheritance


Summaries for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

MalaCards based summary : Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma Related phenotypes are facial palsy and coarctation of aorta

More information from OMIM: 107550

Related Diseases for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Symptoms & Phenotypes for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Human phenotypes related to Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma:

31
# Description HPO Frequency HPO Source Accession
1 facial palsy 31 HP:0010628
2 coarctation of aorta 31 HP:0001680
3 interrupted aortic arch 31 HP:0011611
4 macular coloboma 31 HP:0001116
5 linear nevus sebaceous 31 HP:0010817

Symptoms via clinical synopsis from OMIM:

56
Cardiac:
coarctation of aorta
hypoplastic/atretic transverse aortic arch

Neuro:
facial weakness, esp. depressor anguli oris

Eyes:
macular coloboma
bilateral retinal coloboma

Skin:
linear nevus sebaceous syndrome

Clinical features from OMIM:

107550

Drugs & Therapeutics for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Search Clinical Trials , NIH Clinical Center for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Genetic Tests for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Anatomical Context for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Publications for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Articles related to Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma:

# Title Authors PMID Year
1
Concordant aortic arch anomalies in monozygotic twins. 56
4725150 1973
2
A new neurocutaneous syndrome. 56
4951371 1966

Variations for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Expression for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Search GEO for disease gene expression data for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma.

Pathways for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

GO Terms for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

Sources for Aortic Arch Interruption, Facial Palsy, and Retinal Coloboma

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
Content
Loading form....