Loeys-Dietz syndrome type 1

General Information (adopted from Orphanet):

Synonyms, Signs: Aortic aneurysm syndrome due to TGF-beta receptors anomalies
Number of Symptoms 59
OrphanetNr: 60030
OMIM Id: 609192
610168
ICD-10: Q87.4
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 10 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[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:0100718) Uterine rupture Very frequent [Orphanet] 3 / 7739
2
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
3
 (HPO:0000193) Bifid uvula common [HPO] 66 / 7739
4
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
5
 (HPO:0000175) Cleft palate common [HPO] 349 / 7739
6
 (HPO:0000520) Proptosis typical [HPO] 192 / 7739
7
 (HPO:0000316) Hypertelorism hallmark [HPO] 644 / 7739
8
 (HPO:0000272) Malar flattening Frequent [Orphanet] typical [HPO] 16928994 IBIS 277 / 7739
9
 (HPO:0000347) Micrognathia 426 / 7739
10
 (HPO:0001363) Craniosynostosis Occasional [Orphanet] typical [HPO] 16928994 IBIS 132 / 7739
11
 (HPO:0002705) High, narrow palate Very frequent [Orphanet] 308 / 7739
12
 (HPO:0000278) Retrognathia typical [HPO] 100 / 7739
13
 (HPO:0000592) Blue sclerae Frequent [Orphanet] frequent [HPO] 16928994 IBIS 85 / 7739
14
 (HPO:0000577) Exotropia 43 / 7739
15
 (HPO:0001263) Global developmental delay 15% [HPO] 853 / 7739
16
 (HPO:0001249) Intellectual disability 1089 / 7739
17
 (HPO:0001166) Arachnodactyly common [HPO] 62 / 7739
18
 (HPO:0002650) Scoliosis Frequent [Orphanet] typical [HPO] 16928994 IBIS 705 / 7739
19
 (HPO:0001388) Joint laxity common [HPO] 16928994 IBIS 117 / 7739
20
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
21
 (HPO:0001373) Joint dislocation Occasional [Orphanet] 59 / 7739
22
 (HPO:0009473) Joint contracture of the hand frequent [HPO] 84 / 7739
23
 (HPO:0100490) Camptodactyly of finger Frequent [Orphanet] 212 / 7739
24
 (HPO:0000768) Pectus carinatum Occasional [Orphanet] 136 / 7739
25
 (HPO:0011302) Long palm Frequent [Orphanet] 70 / 7739
26
 (HPO:0001763) Pes planus Very frequent [Orphanet] 176 / 7739
27
 (HPO:0001762) Talipes equinovarus typical [HPO] 309 / 7739
28
 (HPO:0012385) Camptodactyly 113 / 7739
29
 (HPO:0001162) Postaxial hand polydactyly 119 / 7739
30
 (HPO:0000766) Abnormality of the sternum common [HPO] 31 / 7739
31
 (HPO:0000767) Pectus excavatum Occasional [Orphanet] 244 / 7739
32
 (HPO:0001519) Disproportionate tall stature Frequent [Orphanet] occasional [HPO] 16928994 IBIS 39 / 7739
33
 (HPO:0000098) Tall stature Frequent [Orphanet] 74 / 7739
34
 (HPO:0000977) Soft skin frequent [HPO] 23 / 7739
35
 (HPO:0001065) Striae distensae Frequent [Orphanet] 26 / 7739
36
 (HPO:0000963) Thin skin Occasional [Orphanet] 96 / 7739
37
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
38
 (HPO:0010648) Dermal translucency 6 / 7739
39
 (HPO:0004955) Generalized arterial tortuosity common [HPO] 7 / 7739
40
 (HPO:0002631) Ascending aortic aneurysm hallmark [HPO] 9 / 7739
41
 (HPO:0004937) Pulmonary artery aneurysm 4 / 7739
42
 (HPO:0005294) Arterial dissection Very frequent [Orphanet] 8 / 7739
43
 (HPO:0001631) Atria septal defect 22% [HPO] 274 / 7739
44
 (HPO:0002616) Aortic root dilatation Very frequent [Orphanet] 27 / 7739
45
 (HPO:0004933) Ascending aortic dissection typical [HPO] 6 / 7739
46
 (HPO:0004954) Descending aortic aneurysm 3 / 7739
47
 (HPO:0005182) Bicuspid pulmonary valve rare [HPO] 3 / 7739
48
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
49
 (HPO:0001647) Bicuspid aortic valve 34 / 7739
50
 (HPO:0004944) Cerebral aneurysm 12 / 7739
51
 (HPO:0002647) Aortic dissection Very frequent [Orphanet] 14 / 7739
52
 (HPO:0001634) Mitral valve prolapse 69 / 7739
53
 (HPO:0002617) Aneurysm Very frequent [Orphanet] 34 / 7739
54
 (HPO:0001643) Patent ductus arteriosus Very frequent [Orphanet] 35% [HPO] 16928994 IBIS 228 / 7739
55
 (HPO:0003010) Prolonged bleeding time Occasional [Orphanet] 88 / 7739
56
 (HPO:0000238) Hydrocephalus occasional [HPO] 278 / 7739
57
 (HPO:0002308) Arnold-Chiari malformation occasional [HPO] 42 / 7739
58
 (HPO:0001425) Heterogeneous 132 / 7739
59
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: