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 57

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Arteriosclerosis, Severe Juvenile:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 hypertension 32 HP:0000822
2 hip dysplasia 32 HP:0001385
3 short stature 32 HP:0004322
4 delayed puberty 32 HP:0000823
5 anemia 32 HP:0001903
6 myocardial infarction 32 HP:0001658
7 abnormality of the skin 32 HP:0000951
8 gastric ulcer 32 HP:0002592
9 short phalanx of finger 32 HP:0009803
10 calcification of the aorta 32 HP:0004963
11 chronic kidney disease 32 HP:0012622
12 arteriosclerosis 32 HP:0002634
13 central fundal arteriolar microaneurysms 32 HP:0008014
14 dysplasia of second lumbar vertebra 32 HP:0004589
15 central retinal vessel vascular tortuosity 32 HP:0007768

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:

41
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 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
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