MCID: MCH007
MIFTS: 8

Meacham Winn Culler Syndrome

Categories: Rare diseases, Reproductive diseases

Aliases & Classifications for Meacham Winn Culler Syndrome

MalaCards integrated aliases for Meacham Winn Culler Syndrome:

Name: Meacham Winn Culler Syndrome 52 71
Double Vagina, Cardiac, Pulmonary, and Other Genital Malformations with 46,xy Karyotype 52

Classifications:



External Ids:

UMLS 71 C2931752

Summaries for Meacham Winn Culler 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: 3097 Definition Meacham syndrome is a multiple malformation syndrome characterized by congenital diaphragmatic abnormalities, genital defects and cardiac malformations. Epidemiology Less than 15 patients have been reported worldwide. Clinical description Ambiguous or female external genitalia are present in individuals with 46,XY karyotype . The genital abnormalities are variable and may include a true double vagina or septate vagina, absent uterus, abnormal male gonads in the presence of normal external female genitalia or male pseudohermaphroditism with abnormal internal female genitalia. Complex cyanotic congenital heart defects , (hypoplastic right lungs, anomalous pulmonary venous return and abnormalities of the diaphragm) are frequent. One patient with rhabdomyomatous dysplasia of the lungs has been reported. Etiology Mutations in the WT1 gene have been identified in some patients with Meacham syndrome. Mutations in the same gene have previously been detected in patients with Denys-Drash syndrome (see this term). Diagnostic methods Diagnosis is based on the clinical findings. The occurrence of a true double vagina should lead the clinician to careful pulmonary and cardiac evaluation. Differential diagnosis The main differential diagnosis comprises Denys-Drash syndrome, an allelic disorder with overlapping clinical features. Beckwith-Wiedemann, Simpson-Golabi-Behmel and Perlman syndromes should also be considered (see these terms). Management and treatment Management is supportive. Prognosis All patients reported to date died in early childhood. Visit the Orphanet disease page for more resources.

MalaCards based summary : Meacham Winn Culler Syndrome, also known as double vagina, cardiac, pulmonary, and other genital malformations with 46,xy karyotype, is related to meacham syndrome. Affiliated tissues include heart, lung and uterus.

Related Diseases for Meacham Winn Culler Syndrome

Diseases related to Meacham Winn Culler Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 meacham syndrome 11.9

Symptoms & Phenotypes for Meacham Winn Culler Syndrome

Drugs & Therapeutics for Meacham Winn Culler Syndrome

Search Clinical Trials , NIH Clinical Center for Meacham Winn Culler Syndrome

Genetic Tests for Meacham Winn Culler Syndrome

Anatomical Context for Meacham Winn Culler Syndrome

MalaCards organs/tissues related to Meacham Winn Culler Syndrome:

40
Heart, Lung, Uterus

Publications for Meacham Winn Culler Syndrome

Articles related to Meacham Winn Culler Syndrome:

# Title Authors PMID Year
1
Double vagina, cardiac, pulmonary, and other genital malformations with 46,XY karyotype. 61
1844355 1991

Variations for Meacham Winn Culler Syndrome

Expression for Meacham Winn Culler Syndrome

Search GEO for disease gene expression data for Meacham Winn Culler Syndrome.

Pathways for Meacham Winn Culler Syndrome

GO Terms for Meacham Winn Culler Syndrome

Sources for Meacham Winn Culler 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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