ARTERIOSCLEROSIS, SEVERE JUVENILE

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 23
OrphanetNr:
OMIM Id: 208060
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0012622) Chronic kidney disease 32 / 7739
2
(HPO:0008014) Central fundal arteriolar microaneurysms 1 / 7739
3
(HPO:0007768) Central retinal vessel vascular tortuosity 2 / 7739
4
(HPO:0000823) Delayed puberty 65 / 7739
5
(HPO:0009803) Short phalanx of finger 79 / 7739
6
(HPO:0001385) Hip dysplasia 242 / 7739
7
(HPO:0004589) Dysplasia of second lumbar vertebra 1 / 7739
8
(HPO:0004963) Calcification of the aorta 3 / 7739
9
(HPO:0004322) Short stature 1232 / 7739
10
(HPO:0000951) Abnormality of the skin 147 / 7739
11
(HPO:0001658) Myocardial infarction 30 / 7739
12
(HPO:0000822) Hypertension 224 / 7739
13
(HPO:0002634) Arteriosclerosis 3 / 7739
14
(HPO:0001903) Anemia 289 / 7739
15
(HPO:0000007) Autosomal recessive inheritance 2538 / 7739
16
(OMIM) Stiff 1 / 7739
17
(OMIM) Serum cholesterol, triglycerides, and lipoprotein electrophoresis all normal 1 / 7739
18
(OMIM) Wide pulse pressure 1 / 7739
19
(OMIM) Hip dysplasia, Perthes-like 1 / 7739
20
(OMIM) Perforated gastric ulcer 1 / 7739
21
(OMIM) Mechanical hemolysis 1 / 7739
22
(OMIM) Arteriosclerosis, early-onset medial calcific, aorta and peripheral arteries 1 / 7739
23
(OMIM) Glomeruli appear cystic 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Kaitila et al. (1978, 1981) described 8 patients (7 boys, 1 girl) from 5 families with early-onset medial calcific arteriosclerosis with hypertension, short stature, delayed puberty, anemia, Perthes-like dysplasia of the hip, short fingers, dysplasia of second lumbar ...