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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
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...

Symptoms via clinical synopsis from OMIM:

57
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

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

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 patent ductus arteriosus 32 HP:0001643
2 ventricular septal defect 32 HP:0001629
3 varicose veins 32 HP:0002619
4 distichiasis 32 HP:0009743
5 edema of the lower limbs 32 HP:0010741
6 sinus bradycardia 32 HP:0001688
7 peripheral arterial stenosis 32 HP:0004950

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:

41
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 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
Content
Loading form....