MCID: MNV001
MIFTS: 8

Manouvrier Syndrome

Categories: Rare diseases, Respiratory diseases

Aliases & Classifications for Manouvrier Syndrome

MalaCards integrated aliases for Manouvrier Syndrome:

Name: Manouvrier Syndrome 52 71
Pulmonary Aplasia and Triphalangia of the Thumb 52
Lung Agenesis Heart Defect Thumb Anomalies 52

Classifications:



External Ids:

UMLS 71 C2930988

Summaries for Manouvrier Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 1120 Definition Lung agenesis - heart defect - thumb anomalies is a very rare syndrome characterized by unilateral complete or partial lung agenesis, congenital cardiac defects and ipsilateral thumb anomalies. Epidemiology It has been described in 7 patients. Clinical description Cardiac abnormalities are variable and mainly consist of atrial septal defect, anomalous pulmonary venous return or patent ductus arteriosus. Thumb anomalies include triphalangeal, proximally placed, hypoplastic or reduplicated thumb. One patient had a preaxial polydactyly with a rudimentary thumb. Other malformations can be also observed. The affected patients have normal intellectual development. Genetic counseling The condition is most probably hereditary, transmitted as an autosomal recessive trait . Visit the Orphanet disease page for more resources.

MalaCards based summary : Manouvrier Syndrome, also known as pulmonary aplasia and triphalangia of the thumb, is related to lung agenesis, congenital heart defects, and thumb anomalies syndrome. Affiliated tissues include heart and lung.

Related Diseases for Manouvrier Syndrome

Diseases related to Manouvrier Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 lung agenesis, congenital heart defects, and thumb anomalies syndrome 11.7

Symptoms & Phenotypes for Manouvrier Syndrome

Drugs & Therapeutics for Manouvrier Syndrome

Search Clinical Trials , NIH Clinical Center for Manouvrier Syndrome

Genetic Tests for Manouvrier Syndrome

Anatomical Context for Manouvrier Syndrome

MalaCards organs/tissues related to Manouvrier Syndrome:

40
Heart, Lung

Publications for Manouvrier Syndrome

Articles related to Manouvrier Syndrome:

# Title Authors PMID Year
1
Syndromes, disorders and maternal risk factors associated with neural tube defects (I). 61
18400576 2008
2
[Pulmonary aplasia and triphalangia of the thumb: a new association of abnormalities?]. 61
6888102 1983

Variations for Manouvrier Syndrome

Expression for Manouvrier Syndrome

Search GEO for disease gene expression data for Manouvrier Syndrome.

Pathways for Manouvrier Syndrome

GO Terms for Manouvrier Syndrome

Sources for Manouvrier Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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