MCID: MBS001
MIFTS: 29

Mobius Syndrome malady

Summaries for Mobius Syndrome

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47OMIM, 33MalaCards
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MalaCards: Mobius Syndrome, also known as oromandibular-limb hypogenesis spectrum, is related to moebius syndrome and poland syndrome. An important gene associated with Mobius Syndrome is PLXND1 (plexin D1), and among its related pathways are Neural Crest Differentiation and Rho Family GTPases. The compound dmrt have been mentioned in the context of this disorder.

Description from OMIM:47 157900

Aliases & Classifications for Mobius Syndrome

Sources:
8Disease Ontology, 10DISEASES, 45Novoseek, 61UMLS, 22GTR, 47OMIM, 57SNOMED-CT, 40NCIt, 35MeSH
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Aliases & Descriptions:

mobius syndrome 8 10 45 61
oromandibular-limb hypogenesis spectrum 8 22
moebius congenital oculofacial paralysis 8


External Ids:

Disease Ontology8 DOID:13501
OMIM47 157900
SNOMED-CT57 89444000, 393607001
NCIt40 C84893
MeSH35 D020331

Related Diseases for Mobius Syndrome

Sources:
17GeneCards, 18GeneDecks
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Graphical network of diseases related to Mobius Syndrome:



Diseases related to mobius syndrome

Clinical Features for Mobius Syndrome

Sources:
47OMIM
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Clinical features from OMIM:

157900

Drugs & Therapeutics for Mobius Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
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Approved drugs:

Search CenterWatch for Mobius Syndrome

Drug clinical trials:

Search ClinicalTrials for Mobius Syndrome

Search NIH Clinical Center for Mobius Syndrome

Search CenterWatch for Mobius Syndrome

Genetic Tests for Mobius Syndrome

Sources:
22GTR
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Genetic tests related to Mobius Syndrome:

id Genetic test Affiliating Genes
1 Oromandibular-limb Hypogenesis Spectrum22

Anatomical Context for Mobius Syndrome

Animal Models for Mobius Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Mobius Syndrome

Sources:
51PubMed
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Articles related to Mobius Syndrome:

(show all 23)
idTitleAuthorsYear
1
A unique variant of Poland-Mobius syndrome with dextrocardia and a 3q23 gain. (23803678)
2013
2
A neonate with Poland-Mobius syndrome. (22015131)
2011
3
Poland-Mobius syndrome in an infant girl. (19847089)
2009
4
Hepatotoxicity after desflurane anesthesia in a 15-month-old child with Mobius syndrome after previous exposure to isoflurane. (18073559)
2007
5
Congenital unilateral multiple cranial neuropathy: an etiology shared with Mobius syndrome? (16229900)
2006
6
Early dental management of patients with Mobius syndrome. (17054764)
2006
7
The spectrum of Mobius syndrome: an electrophysiological study. (15829555)
2005
8
A case of Mobius syndrome--radiological and electrophysiological findings. (15925414)
2005
9
Twenty-year behavioral follow-up of a 1;13 chromosomal translocation and Mobius syndrome presenting with poor impulse control, exhibitionism, and aggression. (14610724)
2003
10
Upper labial deficiency in Mobius syndrome: a previously unreported feature and its correction. (14663218)
2003
11
Mobius syndrome: a dental hygiene case study and review of the literature. (16451548)
2003
12
Mobius syndrome: a case report. (11874016)
2002
13
Mobius syndrome associated with ventricular septal defect. (11407163)
2001
14
Facial expression recognition by people with mobius syndrome. (20945172)
2000
15
Mobius syndrome: electrophysiologic studies in seven cases. (8761272)
1996
16
Behavior management of a patient with Mobius syndrome: report of case. (8432950)
1993
17
Mobius syndrome with basal ganglia calcification. (1642115)
1992
18
Mobius syndrome and Poland anomaly: case report and review of the literature. (521879)
1979
19
Congenital facial diplegia (Mobius syndrome) and diabetes insipidus: case report. (106335)
1979
20
Mobius syndrome and limb abnormalities. (915640)
1977
21
MOBIUS SYNDROME. (14070993)
1963
22
Mobius' syndrome. (13778936)
1961
23
Neurologic aspects of the Mobius syndrome. A case study with electromyography of the extraocular and facial muscles. (13840951)
1960

Genetic Variations for Mobius Syndrome

Expression for genes affiliated with Mobius Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mobius Syndrome

Search GEO for disease gene expression data for Mobius Syndrome.

Pathways for genes affiliated with Mobius Syndrome

Sources:
38NCBI BioSystems Database, 52QIAGEN
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Pathways related to Mobius Syndrome according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.7SOX9, SOX10
2
Hide members
8.7PPP1R12A, SOX9, SOX10, SOX14

Compounds for genes affiliated with Mobius Syndrome

Sources:
45Novoseek
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Compounds related to Mobius Syndrome according to GeneCards/GeneDecks:

idCompoundScoreTop Affiliating Genes
1dmrt459.7SRY, SOX9

GO Terms for genes affiliated with Mobius Syndrome

Sources:
16Gene Ontology
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Biological processes related to Mobius Syndrome according to GeneCards/GeneDecks:

(show all 8)
idNameGO IDScoreTop Affiliating Genes
1positive regulation of male gonad developmentGO:20000209.9SOX9, SRY
2oligodendrocyte differentiationGO:0487099.8SOX10, SOX9
3male gonad developmentGO:0085849.6SRY, SOX9
4regulation of cell adhesionGO:0301559.5SOX9, PPP1R12A
5positive regulation of transcription, DNA-dependentGO:0458939.4FOXL2, SRY, SOX9
6negative regulation of canonical Wnt receptor signaling pathwayGO:0900909.4SOX9, SOX10
7negative regulation of transcription, DNA-dependentGO:0458929.0SOX14, SOX10, SOX9, FOXL2
8positive regulation of transcription from RNA polymerase II promoterGO:0459448.9SOX10, PPP1R12A, FOXL2, SOX9

Molecular functions related to Mobius Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1DNA binding, bendingGO:0083019.8SRY, FOXL2
2transcription factor bindingGO:0081349.1SRY, FOXL2, SOX10
3RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activityGO:0037058.9SRY, FOXL2, SOX9, SOX10

Products for genes affiliated with Mobius Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mobius Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet