MCID: MBS001
MIFTS: 28

Mobius Syndrome malady

Neuronal diseases category

Summaries for Mobius Syndrome

About this section
Sources:
48OMIM, 34MalaCards
See all sources

Fully expand this MalaCard

Download this MalaCard
MalaCards: 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:48 157900

Aliases & Classifications for Mobius Syndrome

About this section
Sources:
9Disease Ontology, 11DISEASES, 46Novoseek, 63UMLS, 23GTR, 59SNOMED-CT, 48OMIM, 36MeSH, 41NCIt
See all sources

Classifications:

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


Aliases & Descriptions:

mobius syndrome 9 11 46 63
oromandibular-limb hypogenesis spectrum 9 23
moebius congenital oculofacial paralysis 9


External Ids:

Disease Ontology9 DOID:13501
OMIM48 157900
SNOMED-CT59 89444000, 393607001
MeSH36 D020331
NCIt41 C84893

Related Diseases for Mobius Syndrome

About this section
Sources:
18GeneCards, 19GeneDecks
See all sources

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

idRelated DiseaseScoreTop Affiliating Genes
1moebius syndrome30.3PLXND1, 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

About this section
Sources:
48OMIM
See all sources


Clinical features from OMIM:

157900

Drugs & Therapeutics for Mobius Syndrome

About this section
Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
See all sources

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

About this section
Sources:
23GTR
See all sources

Genetic tests related to Mobius Syndrome:

id Genetic test Affiliating Genes
1 Oromandibular-Limb Hypogenesis Spectrum23

Anatomical Context for Mobius Syndrome

About this section

Animal Models for Mobius Syndrome or affiliated genes

About this section
Sources:
38MGI
See all sources

MGI Mouse Phenotypes related to Mobius Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053919.0PLXND1, FOXL2
2MP:00030128.8FOXL2, SOX14

Publications for Mobius Syndrome

About this section
Sources:
53PubMed
See all sources

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

About this section

Expression for genes affiliated with Mobius Syndrome

About this section
Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
See all sources
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

About this section

Compounds for genes affiliated with Mobius Syndrome

About this section

GO Terms for genes affiliated with Mobius Syndrome

About this section
Sources:
17Gene Ontology
See all sources

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mobius Syndrome

About this section
4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet