MCID: MRF020
MIFTS: 11

Marfanoid Habitus with Situs Inversus

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Aliases & Classifications for Marfanoid Habitus with Situs Inversus

MalaCards integrated aliases for Marfanoid Habitus with Situs Inversus:

Name: Marfanoid Habitus with Situs Inversus 57

Characteristics:


Inheritance:

Isolated cases 57

Summaries for Marfanoid Habitus with Situs Inversus

MalaCards based summary: Marfanoid Habitus with Situs Inversus Related phenotypes are scoliosis and kyphosis

More information from OMIM: 609008

Related Diseases for Marfanoid Habitus with Situs Inversus

Symptoms & Phenotypes for Marfanoid Habitus with Situs Inversus

Human phenotypes related to Marfanoid Habitus with Situs Inversus:

30 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 scoliosis 30 HP:0002650
2 kyphosis 30 HP:0002808
3 mandibular prognathia 30 HP:0000303
4 pectus carinatum 30 HP:0000768
5 genu recurvatum 30 HP:0002816
6 myopia 30 HP:0000545
7 mitral valve prolapse 30 HP:0001634
8 arachnodactyly 30 HP:0001166
9 disproportionate tall stature 30 HP:0001519
10 lens subluxation 30 HP:0001132
11 long face 30 HP:0000276
12 pulmonic stenosis 30 HP:0001642
13 situs inversus totalis 30 HP:0001696
14 myopathic facies 30 HP:0002058
15 aortic regurgitation 30 HP:0001659
16 aortic root aneurysm 30 HP:0002616
17 obstructive sleep apnea 30 HP:0002870
18 persistent left superior vena cava 30 HP:0005301
19 hyperextensibility of the finger joints 30 HP:0001187

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Skeletal Spine:
scoliosis
kyphosis

Skeletal Limbs:
genu recurvatum

Cardiovascular Heart:
mitral valve prolapse
pulmonic stenosis
dextrocardia
aortic regurgitation

Head And Neck Face:
long face
myopathic facies
prognathism

Cardiovascular Vascular:
persistent left superior vena cava
aortic root dilatation
azygous connection

Abdomen:
situs inversus

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Head And Neck Eyes:
myopia
lens subluxation

Skeletal Hands:
arachnodactyly
hyperextensible fingers

Respiratory:
obstructive sleep apnea

Growth Other:
marfanoid body habitus
reduced upper-lower segment ratio

Clinical features from OMIM®:

609008 (Updated 24-Oct-2022)

Drugs & Therapeutics for Marfanoid Habitus with Situs Inversus

Search Clinical Trials, NIH Clinical Center for Marfanoid Habitus with Situs Inversus

Genetic Tests for Marfanoid Habitus with Situs Inversus

Anatomical Context for Marfanoid Habitus with Situs Inversus

Publications for Marfanoid Habitus with Situs Inversus

Articles related to Marfanoid Habitus with Situs Inversus:

# Title Authors PMID Year
1
Marfanoid habitus with abnormal situs. 57
15150786 2004
2
Marfan's syndrome, dextrocardia and situs inversus associated with discrete subaortic stenosis and aortic insufficiency in an adult female: case report. 57
11380111 2001

Variations for Marfanoid Habitus with Situs Inversus

Expression for Marfanoid Habitus with Situs Inversus

Search GEO for disease gene expression data for Marfanoid Habitus with Situs Inversus.

Pathways for Marfanoid Habitus with Situs Inversus

GO Terms for Marfanoid Habitus with Situs Inversus

Sources for Marfanoid Habitus with Situs Inversus

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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