Aneurysm - osteoarthritis syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: LDS1C, FORMERLY
ANEURYSMS-OSTEOARTHRITIS SYNDROME
LOEYS-DIETZ SYNDROME, TYPE 1C, FORMERLY
LDS3
AOS
loeys-dietz syndrome with osteoarthritis
Number of Symptoms 50
OrphanetNr: 284984
OMIM Id: 613795
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Marfan and Marfan-related disorder
 -Rare genetic disease
 -Rare systemic or rheumatologic disease
Rare disease with thoracic aortic aneurysm and aortic dissection
 -Rare circulatory system disease
 -Rare genetic disease
 -Rare surgical thoracic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000139) Uterine prolapse 6 / 7739
2
 (HPO:0000218) High palate 356 / 7739
3
 (HPO:0000316) Hypertelorism 644 / 7739
4
 (HPO:0000689) Dental malocclusion 114 / 7739
5
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
6
 (HPO:0008843) Hip osteoarthritis 12 / 7739
7
 (HPO:0001388) Joint laxity 117 / 7739
8
 (HPO:0012385) Camptodactyly 113 / 7739
9
 (HPO:0000939) Osteoporosis rare [HPO:skoehler] 129 / 7739
10
 (HPO:0003179) Protrusio acetabuli 37 / 7739
11
 (HPO:0001166) Arachnodactyly 62 / 7739
12
 (HPO:0005086) Knee osteoarthritis 4 / 7739
13
 (HPO:0002758) Osteoarthritis 78 / 7739
14
 (HPO:0002650) Scoliosis 705 / 7739
15
 (HPO:0003302) Spondylolisthesis 14 / 7739
16
 (HPO:0001763) Pes planus 176 / 7739
17
 (HPO:0000766) Abnormality of the sternum 31 / 7739
18
 (HPO:0010886) Osteochondritis Dissecans 9 / 7739
19
 (HPO:0008419) Intervertebral disc degeneration 2 / 7739
20
 (HPO:0001537) Umbilical hernia 206 / 7739
21
 (HPO:0000023) Inguinal hernia 181 / 7739
22
 (HPO:0000977) Soft skin 23 / 7739
23
 (HPO:0000978) Bruising susceptibility 123 / 7739
24
 (HPO:0001065) Striae distensae 26 / 7739
25
 (HPO:0001642) Pulmonic stenosis rare [HPO:skoehler] 89 / 7739
26
 (HPO:0005116) Arterial tortuosity 4 / 7739
27
 (HPO:0001712) Left ventricular hypertrophy 76 / 7739
28
 (HPO:0004415) Pulmonary artery stenosis 25 / 7739
29
 (HPO:0002619) Varicose veins 11 / 7739
30
 (HPO:0004942) Aortic aneurysm 10 / 7739
31
 (HPO:0001659) Aortic regurgitation 36 / 7739
32
 (HPO:0001643) Patent ductus arteriosus rare [HPO:skoehler] 228 / 7739
33
 (HPO:0002647) Aortic dissection 14 / 7739
34
 (HPO:0004971) Pulmonary artery hypoplasia 15 / 7739
35
 (HPO:0005110) Atrial fibrillation 71 / 7739
36
 (HPO:0001634) Mitral valve prolapse 69 / 7739
37
 (HPO:0001653) Mitral regurgitation 64 / 7739
38
 (MedDRA:10003143) Arterial aneurysm NOS 4 / 7739
39
 (OMIM) Atrophic scarring 9 / 7739
40
 (OMIM) Spondylysis 1 / 7739
41
 (OMIM) Facet joint osteoarthritis 1 / 7739
42
 (MedDRA:10062696) Spider vein 1 / 7739
43
 (OMIM) Meniscal lesions 1 / 7739
44
 (HPO:0100775) Dural ectasia 5 / 7739
45
 (OMIM) Bowel prolapse 1 / 7739
46
 (OMIM) Abnormal uvula 2 / 7739
47
 (OMIM) Uncovertebral (C3-C7) joint osteoarthritis 1 / 7739
48
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
49
 (OMIM) Long bone overgrowth (dolichostenomelia) 2 / 7739
50
 (MedDRA:10048475) Bladder prolapse 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Van de Laar et al. (2011) studied 3 unrelated Dutch families with arterial aneurysms, dissections, and/or early-onset osteoarthritis. The largest family was a 4-generation pedigree in which 12 of 22 affected individuals presented with aneurysms of the aorta, ...
Molecular genetics OMIM In a 4-generation Dutch family with arterial aneurysms and dissections and/or early-onset osteoarthritis mapping to chromosome 15q22.2-q24.2, van de Laar et al. (2011) analyzed the candidate gene SMAD3 and identified heterozygosity for a missense mutation (603109.0001) that segregated ...