MCID: MBS002
MIFTS: 53

Moebius Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases

Aliases & Classifications for Moebius Syndrome

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 46NINDS, 51Orphanet, 10Disease Ontology, 47Novoseek, 12DISEASES, 36MeSH, 65UMLS, 24GTR, 27ICD10, 42NCIt, 59SNOMED-CT, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Moebius Syndrome:

Name: Moebius Syndrome 49 11 45 22 23 46 51
Mobius Syndrome 10 45 22 23 47 12 36 65
Congenital Facial Diplegia 45 23 46 51
Moebius Sequence 45 22 23
Moebius Congenital Oculofacial Paralysis 10 23
Oromandibular-Limb Hypogenesis Spectrum 10 24
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 45
Congenital Ophthalmoplegia and Facial Paresis 23
 
Congenital Facial Diplegia Syndrome 45
Congenital Oculofacial Paralysis 45
Mobius Ii Syndrome 65
Moebius Spectrum 23
Möbius Sequence 23
Möbius Syndrome 51
Mbs 45

Characteristics:

Orphanet epidemiological data:

51
moebius syndrome:
Inheritance: Autosomal dominant; Age of onset: Neonatal

HPO:

61
moebius syndrome:
Onset and clinical course: phenotypic variability
Inheritance: sporadic, autosomal dominant inheritance


Classifications:



External Ids:

OMIM49 157900
Disease Ontology10 DOID:13501
ICD1027 Q87.0
MeSH36 D020331
NCIt42 C84893
SNOMED-CT59 393607001, 89444000
Orphanet51 570
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 D020331
UMLS via Orphanet66 C0221060
UMLS65 C0221060, C0853240

Summaries for Moebius Syndrome

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OMIM:49 The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The... (157900) more...

MalaCards based summary: Moebius Syndrome, also known as mobius syndrome, is related to pseudohermaphroditism and moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome, and has symptoms including abnormality of the voice, ophthalmoparesis and ptosis. An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1), and among its related pathways is Neural Crest Differentiation. Affiliated tissues include eye, bone and tongue, and related mouse phenotypes are normal and digestive/alimentary.

Genetics Home Reference:23 Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. The signs and symptoms of this condition are present from birth.

NIH Rare Diseases:45 Moebius syndrome is a rare neurological condition that primarily affects the muscles that control facial expression and eye movement. signs and symptoms of the condition may include weakness or paralysis of the facial muscles; feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; eye sensitivity; high or cleft palate; hearing problems; dental abnormalities; bone abnormalities in the hands and feet; and/or speech difficulties. affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills. moebius syndrome is caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movement and facial expression. other cranial nerves may also be affected. there is no cure for moebius syndrome, but proper care and treatment give many individuals a normal life expectancy. last updated: 3/3/2016

NINDS:46 Moebius syndrome is a rare birth defect caused by the absence or underdevelopment of the 6th and 7th cranial nerves, which control eye movements and facial expression. Many of the other cranial nerves may also be affected, including the 3rd, 5th, 8th, 9th, 11th and 12th. The first symptom, present at birth, is an inability to suck. Other symptoms can include: feeding, swallowing, and choking problems; excessive drooling; crossed eyes; lack of facial expression; inability to smile; eye sensitivity; motor delays; high or cleft palate; hearing problems and speech difficulties. Children with Moebius syndrome are unable to move their eyes back and forth. Decreased numbers of muscle fibers have been reported. Deformities of the tongue, jaw, and limbs, such as clubfoot and missing or webbed fingers, may also occur. As children get older, lack of facial expression and inability to smile become the dominant visible symptoms. Approximately 30 to 40 percent of children with Moebius syndrome have some degree of autism.

Wikipedia:68 Möbius syndrome (also spelled Moebius) is an extremely rare congenital neurological disorder which is... more...

Related Diseases for Moebius Syndrome

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

(show top 50)    (show all 121)
idRelated DiseaseScoreTop Affiliating Genes
1pseudohermaphroditism29.6SOX9, SRY
2moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome12.3
3congenital nonprogressive myopathy with moebius and robin sequences11.9
4chromosome 17q11.2 deletion syndrome, 1.4mb11.4
5hypoglossia-hypodactyly syndrome11.3
6hereditary congenital facial paresis11.3
7moebius axonal neuropathy hypogonadism11.3
8hereditary endotheliopathy, retinopathy, nephropathy, and stroke10.4MBS2, MBS3
9facial paresis, hereditary congenital, 110.4
10williams-beuren syndrome10.3
11potocki-lupski syndrome10.3
12chromosome 17q23.1-q23.2 deletion syndrome10.3
13lymphoma10.3
14prostatitis10.3
15twin-to-twin transfusion syndrome10.2
16coccidioidomycosis10.2
17cardiomyopathy10.2
18partial third-nerve palsy10.2CHN1, TUBB3
19gastric cancer10.2
20retinal vein occlusion10.2
21meckel syndrome 310.1CHN1, FOXL2
22cyclotropia10.1CHN1, FOXL2
23total circumpapillary dystrophy of choroid10.1CHN1, TUBB3
24myocardial infarction10.1
25porphyria cutanea tarda10.1
26systemic lupus erythematosus10.1
27neural tube defects10.1
28lung cancer10.1
29atopy10.1
30hiv-110.1
31breast cancer10.1
32coronary artery disease10.1
33cystic fibrosis10.1
34werner syndrome10.1
35fructose intolerance10.1
36ataxia-telangiectasia10.1
37retinoblastoma10.1
38machado-joseph disease10.1
39metachromatic leukodystrophy10.1
40b-cell lymphomas10.1
41bipolar disorder10.1
42brain injury10.1
43bronchopulmonary dysplasia10.1
44diffuse large b-cell lymphoma10.1
45hepatitis10.1
46insulinoma10.1
47ischemic heart disease10.1
48leukemia10.1
49liver disease10.1
50lymphomatoid granulomatosis10.1

Graphical network of the top 20 diseases related to Moebius Syndrome:



Diseases related to moebius syndrome

Symptoms for Moebius Syndrome

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Symptoms by clinical synopsis from OMIM:

157900

Clinical features from OMIM:

157900

Symptoms:

 51 (show all 43)
  • expressionless face/amimia
  • facial palsy
  • strabismus/squint
  • ophthalmoplegia/ophthalmoparesis/oculomotor palsy
  • ptosis
  • mouth held open
  • abnormal cry/voice/phonation disorder/nasal speech
  • cranial nerves palsy
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • corneal clouding/opacity/vascularisation
  • protruding lips
  • absent pectoral muscles
  • short hand/brachydactyly
  • talipes-varus/metatarsal varus
  • feeding disorder/dysphagia/swallowing/sucking disorder/esophageal dyskinesia
  • motor deficit/trouble
  • hypotonia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • visual loss/blindness/amblyopia
  • epicanthic folds
  • blepharitis/eyelid inflammation
  • anosmia/cacosmia/hypogeusia/hyposmia/olfactory bulb hypoplasia
  • microglossia/aglossia/hypoglossia/tongue hypoplasia
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • complete/partial microdontia
  • anodontia/oligodontia/hypodontia
  • hearing loss/hypoacusia/deafness
  • breast tissue/mammary gland absence/aplasia
  • arthrogryposis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • ulnar/cubital anomaly/absence/agenesis/hypoplasia/abnormal ulnar/cubital ray
  • hand agenesis/absence
  • metacarpal anomalies/archibald's sign
  • syndactyly of fingers/interdigital palm
  • clinodactyly of fifth finger
  • thumb hypoplasia/aplasia/absence
  • cafe-au-lait spot
  • late puberty/hypogonadism/hypogenitalism
  • autism/autistic disoders
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • autosomal dominant inheritance
  • death in infancy

HPO human phenotypes related to Moebius Syndrome:

(show all 82)
id Description Frequency HPO Source Accession
1 abnormality of the voice hallmark (90%) HP:0001608
2 ophthalmoparesis hallmark (90%) HP:0000597
3 ptosis hallmark (90%) HP:0000508
4 strabismus hallmark (90%) HP:0000486
5 mask-like facies hallmark (90%) HP:0000298
6 open mouth hallmark (90%) HP:0000194
7 micrognathia 64% HP:0000347
8 delayed speech and language development 55% HP:0000750
9 aplasia of the pectoralis major muscle typical (50%) HP:0009751
10 feeding difficulties in infancy typical (50%) HP:0008872
11 opacification of the corneal stroma typical (50%) HP:0007759
12 talipes typical (50%) HP:0001883
13 muscular hypotonia typical (50%) HP:0001252
14 brachydactyly syndrome typical (50%) HP:0001156
15 everted lower lip vermilion typical (50%) HP:0000232
16 hypertelorism 25% HP:0000316
17 bifid uvula 11% HP:0000193
18 breast aplasia occasional (7.5%) HP:0100783
19 aplasia/hypoplasia of the tongue occasional (7.5%) HP:0010295
20 reduced number of teeth occasional (7.5%) HP:0009804
21 aplasia/hypoplasia of the thumb occasional (7.5%) HP:0009601
22 aplasia/hypoplasia of the radius occasional (7.5%) HP:0006501
23 finger syndactyly occasional (7.5%) HP:0006101
24 abnormality of the sense of smell occasional (7.5%) HP:0004408
25 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
26 absent hand occasional (7.5%) HP:0004050
27 skeletal muscle atrophy occasional (7.5%) HP:0003202
28 abnormality of the ulna occasional (7.5%) HP:0002997
29 arthrogryposis multiplex congenita occasional (7.5%) HP:0002804
30 cafe-au-lait spot occasional (7.5%) HP:0000957
31 autism occasional (7.5%) HP:0000717
32 microdontia occasional (7.5%) HP:0000691
33 visual impairment occasional (7.5%) HP:0000505
34 blepharitis occasional (7.5%) HP:0000498
35 hearing impairment occasional (7.5%) HP:0000365
36 micrognathia occasional (7.5%) HP:0000347
37 epicanthus occasional (7.5%) HP:0000286
38 cleft palate occasional (7.5%) HP:0000175
39 arthrogryposis multiplex congenita 6% HP:0002804
40 clinodactyly HP:0030084
41 camptodactyly HP:0012385
42 lower limb undergrowth HP:0009816
43 short phalanx of finger HP:0009803
44 radial deviation of finger HP:0009466
45 infantile muscular hypotonia HP:0008947
46 feeding difficulties in infancy HP:0008872
47 decreased testicular size HP:0008734
48 aplasia/hypoplasia involving the metacarpal bones HP:0005914
49 depressed nasal bridge HP:0005280
50 respiratory difficulties HP:0002880
51 abnormality of pelvic girdle bone morphology HP:0002644
52 poor coordination HP:0002370
53 hypoplasia of the brainstem HP:0002365
54 clumsiness HP:0002312
55 dysdiadochokinesis HP:0002075
56 dysphagia HP:0002015
57 pes planus HP:0001763
58 talipes equinovarus HP:0001762
59 abnormality of the nasopharynx HP:0001739
60 abnormality of the voice HP:0001608
61 abnormality of the nail HP:0001597
62 congenital fibrosis of extraocular muscles HP:0001491
63 facial diplegia HP:0001349
64 gait disturbance HP:0001288
65 motor delay HP:0001270
66 dysarthria HP:0001260
67 intellectual disability, mild HP:0001256
68 hand clenching HP:0001188
69 split hand HP:0001171
70 syndactyly HP:0001159
71 brachydactyly syndrome HP:0001156
72 abnormality of the posterior cranial fossa HP:0000932
73 exotropia HP:0000577
74 microphthalmia HP:0000568
75 esotropia HP:0000565
76 short neck HP:0000470
77 abnormality of the pinna HP:0000377
78 mask-like facies HP:0000298
79 epicanthus HP:0000286
80 high palate HP:0000218
81 micropenis HP:0000054
82 hypogonadotrophic hypogonadism HP:0000044

Drugs & Therapeutics for Moebius Syndrome

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Impairments of Oral Language in Mobius SyndromeCompletedNCT00856531
2Positive Exposure: A Photography and Video Intervention for Individuals With Craniofacial DifferencesCompletedNCT00340964
3Study on Moebius Syndrome and Other Congenital Facial Weakness DisordersRecruitingNCT02055248

Search NIH Clinical Center for Moebius Syndrome


Cochrane evidence based reviews: mobius syndrome

Genetic Tests for Moebius Syndrome

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Genetic tests related to Moebius Syndrome:

id Genetic test Affiliating Genes
1 Moebius Syndrome22 MBS3

Anatomical Context for Moebius Syndrome

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MalaCards organs/tissues related to Moebius Syndrome:

33
Eye, Bone, Tongue, Breast, Olfactory bulb, Skeletal muscle, Myeloid

Animal Models for Moebius Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Moebius Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00028738.5CDX2, CHN1, FGF9, FOXL2, PLXND1, SOX10
2MP:00053818.5CDX2, FGF9, PLXND1, PPP1R12A, SOX10, SOX9
3MP:00053798.1CDX2, FGF9, FOXL2, GSX1, PLXND1, SOX10
4MP:00053847.9CDX2, CHN1, FGF9, NEUROG1, PLXND1, REV3L
5MP:00053786.7CDX2, CHN1, FGF9, FOXL2, GSX1, PLXND1
6MP:00107686.2CDX2, FGF9, FOXL2, GSX1, NEUROG1, PLXND1

Publications for Moebius Syndrome

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Articles related to Moebius Syndrome:

(show top 50)    (show all 112)
idTitleAuthorsYear
1
Association of RBP4 gene variants with adverse lipid profile and obesity. (25701600)
2015
2
Comment on "Hidradenitis Suppurativa: New Opportunities for an Orphan Skin Disease". (26427736)
2015
3
Intrapancreatic biliary stricture in autoimmune pancreatitis should not be included in IgG4-related sclerosing cholangitis. (25207660)
2014
4
The knowledge attitude and practice regarding diabetes and diabetic retinopathy among the final year medical students of King Faisal University Medical College of Al Hasa region of Saudi Arabia: a cross sectional survey. (23563455)
2013
5
Clinical impact of DNMT3A mutations in younger adult patients with acute myeloid leukemia: results of the AML Study Group (AMLSG). (23632886)
2013
6
Solar-simulated radiation and heat treatment induced metalloproteinase-1 expression in cultured dermal fibroblasts via distinct pathways: implications on reduction of sun-associated aging. (24001791)
2013
7
Targeting angiogenesis in renal cell carcinoma. (23984807)
2013
8
Differences in cognitive behavioral therapy dropout rates between bulimia nervosa subtypes based on drive for thinness and depression. (23295966)
2013
9
Gene expression profiling identifies HOXB4 as a direct downstream target of GATA-2 in human CD34+ hematopoietic cells. (23028422)
2012
10
Extrahepatic portal vein thrombosis after umbilical catheterization: is it a good choice for Rex shunt? (21238670)
2011
11
Relationship between thyroid stimulating hormone and thyroid stimulating immunoglobulin in Graves' hyperthyroidism. (20855936)
2011
12
Increased Lipoprotein (a) concentrations in patients with chronic venous leg ulcers: a study on patients with or without postthrombotic syndrome. (21362083)
2011
13
Common DISC1 polymorphisms disrupt Wnt/GSK3I^ signaling and brain development. (22099458)
2011
14
Association of IL-4 and ADAM33 gene polymorphisms with asthma in an Indian population. (20524005)
2010
15
Histologic chorioamnionitis, fetal involvement, and antenatal steroids: effects on neonatal outcome in preterm infants. (19729143)
2009
16
Assessment of the predictivity of preoperative serum CA 125 in the differential diagnosis of uterine leiomyoma and uterine sarcoma in the Turkish female population. (19761133)
2009
17
SNP genotyping of a sclerosing rhabdomyosarcoma: reveals highly aneuploid profile and a specific MDM2/HMGA2 amplification. (19454362)
2009
18
Correlation of polymorphisms in xeroderma pigmentosum group C to the risk of ovarian carcinoma]. (18785488)
2008
19
Regulation of cell migration and cytokine production by HGF-like protein (HLP) / macrophage stimulating protein (MSP) in primary microglia. (18480548)
2008
20
Inhibition of APP intracellular domain (AICD) transcriptional activity via covalent conjugation with Nedd8. (18096514)
2008
21
Pulmonary nocardiosis with brain abscess in a sensitized kidney transplant recipient with a history of repeated graft loss and HLA-antibody depletion treatment--a case report. (18521805)
2008
22
Few alterations in clinical pathology and histopathology observed in a CYP2C18&19 humanized mice model. (19038035)
2008
23
Atorvastatin increases human serum levels of proprotein convertase subtilisin/kexin type 9. (18033751)
2008
24
Isolation and characterization of human antibodies targeting human aspartyl (asparaginyl) beta-hydroxylase. (18334751)
2007
25
Effect of high hydrostatic pressure and whey proteins on the disruption of casein micelle isolates. (17961286)
2007
26
THG113.31, a specific PGF2alpha receptor antagonist, induces human myometrial relaxation and BKCa channel activation. (17367527)
2007
27
The steroidogenic acute regulatory protein as a target of endocrine disruption in male reproduction. (17786626)
2007
28
Heme oxygenase-1: from bench to bedside. (15901614)
2005
29
Paclitaxel and carboplatin with amifostine in advanced, recurrent, or refractory endometrial adenocarcinoma: a phase II study of the Southwest Oncology Group. (15721401)
2005
30
A review of studies on the effects of hemorrhagic shock and resuscitation on the coagulation profile. (12768106)
2003
31
Eosinophilic "empyema" associated with crack cocaine use. (12947150)
2003
32
Colic metastases of alveolar soft-part sarcoma: a case report and review of the literature. (14571434)
2003
33
Repression of bleomycin-induced pneumopathy by TNF. (12496444)
2003
34
Up-regulation of acid sphingomyelinase during retinoic acid-induced myeloid differentiation of NB4, a human acute promyelocytic leukemia cell line. (11788605)
2002
35
Heterogeneous fatty acylation of Src family kinases with polyunsaturated fatty acids regulates raft localization and signal transduction. (11423543)
2001
36
Benzodiazepine receptor binding in Huntington's disease: [11C]flumazenil uptake measured using positron emission tomography. (10805336)
2000
37
Disruption of splicing regulated by a CUG-binding protein in myotonic dystrophy. (9563950)
1998
38
Fibroblast growth factor-2 binds to the regulatory beta subunit of CK2 and directly stimulates CK2 activity toward nucleolin. (8798749)
1996
39
Vaccination with autoreactive T cell clones in multiple sclerosis: overview of immunological and clinical data. (8872912)
1996
40
Role of c-jun in human myeloid leukemia cell apoptosis induced by pharmacological inhibitors of protein kinase C. (8622627)
1996
41
Neither the homeodomain nor the activation domain of Bicoid is specifically required for its down-regulation by the Torso receptor tyrosine kinase cascade. (8951065)
1996
42
Dumping syndrome in a young child. (7588961)
1995
43
Unusual processing of GP280, a protein associated with the intermicrovillar areas of yolk sac epithelial cells: plasma membrane delivery of immature protein. (7626048)
1995
44
Recombinant rabbit hemorrhagic disease virus capsid protein expressed in baculovirus self-assembles into viruslike particles and induces protection. (8084017)
1994
45
Microdiversity of human-plasma-membrane calcium-pump isoform 2 generated by alternative RNA splicing in the N-terminal coding region. (1313367)
1992
46
Herpes simplex virus activates expression of a cellular gene by specific binding to the cell surface. (2161146)
1990
47
Oxytocin-specific RNA, oxytocin and progesterone concentrations in corpora lutea of heifers treated with oxytocin. (1695681)
1990
48
Cortical blindness and tourniquet subclavian steal. (7452883)
1981
49
The diagnosis of sleeping sickness in a district hospital in Zambia. (1232957)
1975
50
The Rubinstein-Taybi syndrome. (5642988)
1968

Variations for Moebius Syndrome

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Expression for genes affiliated with Moebius Syndrome

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Search GEO for disease gene expression data for Moebius Syndrome.

Pathways for genes affiliated with Moebius Syndrome

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Pathways related to Moebius Syndrome according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
19.4NEUROG1, SOX10, SOX9

GO Terms for genes affiliated with Moebius Syndrome

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Biological processes related to Moebius Syndrome according to GeneCards Suite gene sharing:

(show all 10)
idNameGO IDScoreTop Affiliating Genes
1morphogenesis of a branching epitheliumGO:006113810.4SOX10, SOX9
2chondrocyte differentiationGO:000206210.3FGF9, SOX9
3positive regulation of mesenchymal cell proliferationGO:000205310.3FGF9, SOX9
4oligodendrocyte differentiationGO:004870910.2SOX10, SOX9
5male sex determinationGO:00302389.8FGF9, SOX9, SRY
6regulation of cell adhesionGO:00301559.8PPP1R12A, SOX9
7cell differentiationGO:00301549.0CDX2, FOXL2, SOX10, SOX9, SRY
8positive regulation of transcription, DNA-templatedGO:00458938.9CDX2, FOXL2, SOX10, SOX9, SRY
9positive regulation of transcription from RNA polymerase II promoterGO:00459448.6FOXL2, NEUROG1, PPP1R12A, SOX10, SOX9
10negative regulation of transcription from RNA polymerase II promoterGO:00001228.5CDX2, FGF9, FOXL2, SOX14, SOX9

Molecular functions related to Moebius Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II transcription factor activity, sequence-specific DNA bindingGO:00009819.0SOX10, SOX14, SRY

Sources for Moebius Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet