MCID: ART148
MIFTS: 14

Arteriosclerosis, Severe Juvenile

Categories: Cardiovascular diseases

Aliases & Classifications for Arteriosclerosis, Severe Juvenile

MalaCards integrated aliases for Arteriosclerosis, Severe Juvenile:

Name: Arteriosclerosis, Severe Juvenile 58

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
arteriosclerosis, severe juvenile:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Arteriosclerosis, Severe Juvenile

MalaCards based summary : Arteriosclerosis, Severe Juvenile Affiliated tissues include skin and kidney, and related phenotypes are hypertension and hip dysplasia

Description from OMIM: 208060

Related Diseases for Arteriosclerosis, Severe Juvenile

Diseases in the Arteriosclerosis family:

Arteriosclerosis, Severe Juvenile

Symptoms & Phenotypes for Arteriosclerosis, Severe Juvenile

Human phenotypes related to Arteriosclerosis, Severe Juvenile:

33 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertension 33 HP:0000822
2 hip dysplasia 33 HP:0001385
3 short stature 33 HP:0004322
4 delayed puberty 33 HP:0000823
5 anemia 33 HP:0001903
6 myocardial infarction 33 HP:0001658
7 abnormality of the skin 33 HP:0000951
8 gastric ulcer 33 HP:0002592
9 short phalanx of finger 33 HP:0009803
10 calcification of the aorta 33 HP:0004963
11 chronic kidney disease 33 HP:0012622
12 arteriosclerosis 33 HP:0002634
13 central fundal arteriolar microaneurysms 33 HP:0008014
14 dysplasia of second lumbar vertebra 33 HP:0004589
15 central retinal vessel vascular tortuosity 33 HP:0007768

Symptoms via clinical synopsis from OMIM:

58
Cardiovascular:
hypertension
myocardial infarction
arteriosclerosis, early-onset medial calcific, aorta and peripheral arteries
wide pulse pressure

Endocrine:
delayed puberty

Limbs:
short fingers

Joints:
hip dysplasia, perthes-like

Skin:
stiff

Eye:
tortuosity of main retinal vessels
central fundal arteriolar microaneurysms

Growth:
short stature

Heme:
anemia
mechanical hemolysis

Renal:
progressive renal failure
glomeruli appear cystic

Spine:
dysplasia of second lumbar vertebra ('beaked l2')

G I:
perforated gastric ulcer

Lab:
serum cholesterol, triglycerides, and lipoprotein electrophoresis all normal

Clinical features from OMIM:

208060

Drugs & Therapeutics for Arteriosclerosis, Severe Juvenile

Search Clinical Trials , NIH Clinical Center for Arteriosclerosis, Severe Juvenile

Genetic Tests for Arteriosclerosis, Severe Juvenile

Anatomical Context for Arteriosclerosis, Severe Juvenile

MalaCards organs/tissues related to Arteriosclerosis, Severe Juvenile:

42
Skin, Kidney

Publications for Arteriosclerosis, Severe Juvenile

Variations for Arteriosclerosis, Severe Juvenile

Expression for Arteriosclerosis, Severe Juvenile

Search GEO for disease gene expression data for Arteriosclerosis, Severe Juvenile.

Pathways for Arteriosclerosis, Severe Juvenile

GO Terms for Arteriosclerosis, Severe Juvenile

Sources for Arteriosclerosis, Severe Juvenile

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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