MCID: DST099
MIFTS: 11

Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature

Categories: Cardiovascular diseases

Aliases & Classifications for Distichiasis with Congenital Anomalies of the Heart and...

MalaCards integrated aliases for Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature:

Name: Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature 58

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
distichiasis with congenital anomalies of the heart and peripheral vasculature:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Distichiasis with Congenital Anomalies of the Heart and...

MalaCards based summary : Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature Affiliated tissues include heart, and related phenotypes are patent ductus arteriosus and ventricular septal defect

Description from OMIM: 126320

Related Diseases for Distichiasis with Congenital Anomalies of the Heart and...

Symptoms & Phenotypes for Distichiasis with Congenital Anomalies of the Heart and...

Human phenotypes related to Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature:

33 (show all 7)
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 33 HP:0001643
2 ventricular septal defect 33 HP:0001629
3 varicose veins 33 HP:0002619
4 distichiasis 33 HP:0009743
5 sinus bradycardia 33 HP:0001688
6 peripheral arterial stenosis 33 HP:0004950
7 pedal edema 33 HP:0010741

Symptoms via clinical synopsis from OMIM:

58
Cardiac:
patent ductus arteriosus
ventricular septal defect
sinus bradycardia
congenital heart defect
stress-induced asystole
more
Hair:
double rows of eyelashes

Limbs:
varicose veins
leg edema
arterial disease of legs

Clinical features from OMIM:

126320

Drugs & Therapeutics for Distichiasis with Congenital Anomalies of the Heart and...

Search Clinical Trials , NIH Clinical Center for Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature

Genetic Tests for Distichiasis with Congenital Anomalies of the Heart and...

Anatomical Context for Distichiasis with Congenital Anomalies of the Heart and...

MalaCards organs/tissues related to Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature:

42
Heart

Publications for Distichiasis with Congenital Anomalies of the Heart and...

Variations for Distichiasis with Congenital Anomalies of the Heart and...

Expression for Distichiasis with Congenital Anomalies of the Heart and...

Search GEO for disease gene expression data for Distichiasis with Congenital Anomalies of the Heart and Peripheral Vasculature.

Pathways for Distichiasis with Congenital Anomalies of the Heart and...

GO Terms for Distichiasis with Congenital Anomalies of the Heart and...

Sources for Distichiasis with Congenital Anomalies of the Heart and...

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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