MCID: MBS001
MIFTS: 28

Mobius Syndrome malady

Neuronal diseases category
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Summaries for Mobius Syndrome

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MalaCards based summary: Mobius Syndrome, also known as oromandibular-limb hypogenesis spectrum, is related to moebius syndrome and diabetes insipidus. An important gene associated with Mobius Syndrome is PLXND1 (plexin D1). Related mouse phenotypes are vision/eye and no phenotypic analysis.

Description from OMIM:46 157900

Aliases & Classifications for Mobius Syndrome

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Sources:
8Disease Ontology, 10DISEASES, 44Novoseek, 62UMLS, 22GTR, 57SNOMED-CT, 34MeSH, 46OMIM, 39NCIt
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Mobius Syndrome, Aliases & Descriptions:

Name: Mobius Syndrome 8 10 44 62
Oromandibular-Limb Hypogenesis Spectrum 8 22 62
 
Moebius Congenital Oculofacial Paralysis 8 62


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Anatomical: Neuronal diseases


External Ids:

Disease Ontology8 DOID:13501
MeSH34 D020331
SNOMED-CT57 89444000, 393607001
OMIM46 157900
NCIt39 C84893

Related Diseases for Mobius Syndrome

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Diseases related to Mobius Syndrome via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1moebius syndrome29.8PLXND1, FOXL2, SOX14
2diabetes insipidus10.1
3dextrocardia10.1
4exhibitionism10.1
5neuropathy10.1
6ventricular septal defect10.1
7hereditary congenital facial paresis10.1
8blepharophimosis, ptosis, and epicanthus inversus syndrome10.0FOXL2, SOX14

Graphical network of diseases related to Mobius Syndrome:



Diseases related to mobius syndrome

Symptoms for Mobius Syndrome

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Clinical features from OMIM:

157900

Drugs & Therapeutics for Mobius Syndrome

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Drug clinical trials:

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Search NIH Clinical Center for Mobius Syndrome

Genetic Tests for Mobius Syndrome

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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

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Animal Models for Mobius Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Mobius Syndrome:

36
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.0PLXND1, FOXL2
2MP:00030128.8FOXL2, SOX14

Publications for Mobius Syndrome

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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

Variations for Mobius Syndrome

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Expression for genes affiliated with Mobius Syndrome

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Expression patterns in normal tissues for genes affiliated with Mobius Syndrome

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Pathways for genes affiliated with Mobius Syndrome

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Compounds for genes affiliated with Mobius Syndrome

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GO Terms for genes affiliated with Mobius Syndrome

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Biological processes related to Mobius Syndrome according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1negative regulation of transcription from RNA polymerase II promoterGO:0001229.1FOXL2, SOX14
2negative regulation of transcription, DNA-templatedGO:0458928.8FOXL2, SOX14

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

idNameGO IDScoreTop Affiliating Genes
1sequence-specific DNA bindingGO:0435659.1FOXL2, SOX14

Products for genes affiliated with Mobius Syndrome

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Sources for Mobius Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet