MBS
MCID: MBS002
MIFTS: 54

Moebius Syndrome (MBS)

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

Aliases & Classifications for Moebius Syndrome

MalaCards integrated aliases for Moebius Syndrome:

Name: Moebius Syndrome 57 20 43 53 58 36 13 39
Mobius Syndrome 57 12 20 43 58 54 44 15 70
Oromandibular-Limb Hypogenesis Spectrum 12 29 6
Congenital Facial Diplegia 20 43 53
Moebius Sequence 57 20 43
Moebius Congenital Oculofacial Paralysis 12 43
Mbs 57 20
Absence or Underdevelopment of the 6th and 7th Cranial Nerves 20
Congenital Ophthalmoplegia and Facial Paresis 43
Congenital Facial Diplegia Syndrome 20
Congenital Oculofacial Paralysis 20
Mobius Syndrome; Mbs 57
Mobius Ii Syndrome 70
Moebius Spectrum 43
Möbius Syndrome 73
Möbius Sequence 43

Characteristics:

Orphanet epidemiological data:

58
moebius syndrome
Inheritance: Autosomal dominant; Prevalence: 1-9/100000 (Netherlands); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal dominant
isolated cases

Miscellaneous:
highly variable phenotype
most cases are sporadic
may occur cormorbidly with poland syndrome


HPO:

31
moebius syndrome:
Onset and clinical course death in infancy
Inheritance autosomal dominant inheritance sporadic


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


Summaries for Moebius Syndrome

MedlinePlus Genetics : 43 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.Weakness or paralysis of the facial muscles is one of the most common features of Moebius syndrome. Affected individuals lack facial expressions; they cannot smile, frown, or raise their eyebrows. The muscle weakness also causes problems with feeding that become apparent in early infancy.Many people with Moebius syndrome are born with a small chin (micrognathia) and a small mouth (microstomia) with a short or unusually shaped tongue. The roof of the mouth may have an abnormal opening (cleft palate) or be high and arched. These abnormalities contribute to problems with speech, which occur in many children with Moebius syndrome. Dental abnormalities, including missing and misaligned teeth, are also common.Moebius syndrome also affects muscles that control back-and-forth eye movement. Affected individuals must move their head from side to side to read or follow the movement of objects. People with this disorder have difficulty making eye contact, and their eyes may not look in the same direction (strabismus). Additionally, the eyelids may not close completely when blinking or sleeping, which can result in dry or irritated eyes.Other features of Moebius syndrome can include bone abnormalities in the hands and feet, weak muscle tone (hypotonia), and hearing loss. Affected children often experience delayed development of motor skills (such as crawling and walking), although most eventually acquire these skills.Some research studies have suggested that children with Moebius syndrome are more likely than unaffected children to have characteristics of autism spectrum disorders, which are a group of conditions characterized by impaired communication and social interaction. However, recent studies have questioned this association. Because people with Moebius syndrome have difficulty with eye contact and speech due to their physical differences, autism spectrum disorders can be difficult to diagnose in these individuals. Moebius syndrome may also be associated with a somewhat increased risk of intellectual disability; however, most affected individuals have normal intelligence.

MalaCards based summary : Moebius Syndrome, also known as mobius syndrome, is related to carey-fineman-ziter syndrome and hereditary congenital facial paresis, and has symptoms including palatal weakness An important gene associated with Moebius Syndrome is PLXND1 (Plexin D1), and among its related pathways/superpathways is Transcriptional Regulatory Network in Embryonic Stem Cell. Affiliated tissues include eye, tongue and skeletal muscle, and related phenotypes are ptosis and facial palsy

Disease Ontology : 12 A facial nerve disease characterized by congenital, uni- or bilateral, non-progressive facial weakness and limited abduction of the eye(s).

GARD : 20 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.

OMIM® : 57 The most basic description of Moebius syndrome is a congenital facial palsy with impairment of ocular abduction. The facial nerve (cranial nerve VII) and abducens nerve (CN VI) are most frequently involved, but other cranial nerves may be involved as well. Other variable features include orofacial dysmorphism and limb malformations. Mental retardation has been reported in a subset of patients. Most cases of Moebius syndrome are sporadic, but familial occurrence has been reported (Verzijl et al., 2003). The definition of and diagnostic criteria for Moebius syndrome have been controversial and problematic. The syndrome has most frequently been confused with hereditary congenital facial paresis (HCFP; see 601471), which is restricted to involvement of the facial nerve and no other abnormalities. Verzijl et al. (2003) and Verzijl et al. (2005) concluded that HCFP and Moebius syndrome are distinct disorders, and that Moebius syndrome is a complex developmental disorder of the brainstem. Moebius syndrome was defined at the Moebius Syndrome Foundation Research Conference in 2007 as congenital, nonprogressive facial weakness with limited abduction of one or both eyes. Additional features can include hearing loss and other cranial nerve dysfunction, as well as motor, orofacial, musculoskeletal, neurodevelopmental, and social problems (summary by Webb et al., 2012). Kumar (1990) provided a review of Moebius syndrome, which was critiqued by Lipson et al. (1990). Briegel (2006) provided a review of Moebius sequence with special emphasis on neuropsychiatric findings. (157900) (Updated 05-Apr-2021)

NINDS : 53 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. There are four recognized categories of Moebius syndrome: Group I, characterized by small or absent brain stem nuclei that control the cranial nerves; Group II, characterized by loss and degeneration of neurons in the facial peripheral nerve; Group III, characterized by loss and degeneration of neurons and other brain cells, microscopic areas of damage, and hardened tissue in the brainstem nuclei, and, Group IV, characterized by muscular symptoms in spite of a lack of lesions in the cranial nerve.

KEGG : 36 Moebius syndrome (MBS) is a complex, rare developmental anomaly of the hindbrain, that has been described as the combination of congenital palsies of the facial and abducens cranial nerves. Other cranial neuropathies can also be found, most notably cranial nerves V, IX, X, and XII. The disorder presents with varying phenotype and severity. Frequently, it has additional features including orofacial malformations, limb defects, and musculoskeletal, behavioral, and cognitive abnormalities. The specific etiology of MBS is unknown, and theories of the underlying pathophysiology and genetics are numerous. The two main theories underlying the pathogenesis of MBS are an embryological developmental defect in the rhombomere segments including the facial nerve nuclei and an interruption of the vascular supply resulting in ischemia. It has also been reported that mutations in the MBS1, MBS2, and MBS3 gene loci all have contributed to the development of MBS through various pathways. HOX family genes coding for homeobox domains, also, have been implicated in the abnormal development of the human brain.

Wikipedia : 73 Möbius syndrome is a rare congenital neurological disorder which is characterized by facial paralysis... more...

Related Diseases for Moebius Syndrome

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

(show top 50) (show all 216)
# Related Disease Score Top Affiliating Genes
1 carey-fineman-ziter syndrome 31.2 STAC3 REV3L PLXND1
2 hereditary congenital facial paresis 29.8 MBS3 MBS2
3 facial paresis, hereditary congenital, 1 11.4
4 charlie m syndrome 11.2
5 facial paresis, hereditary congenital, 2 11.2
6 hypoglossia-hypodactylia 11.0
7 moebius axonal neuropathy hypogonadism 11.0
8 moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 11.0
9 facial paresis, hereditary congenital, 3 11.0
10 facial paralysis 10.6
11 strabismus 10.4
12 mechanical strabismus 10.4
13 poland syndrome 10.3
14 kearns-sayre syndrome 10.3
15 hypogonadism 10.3
16 abducens palsy 10.2
17 congenital amyoplasia 10.2
18 clubfoot 10.2
19 chromosome 2q35 duplication syndrome 10.1
20 ptosis 10.1
21 cranial nerve palsy 10.1
22 peripheral nervous system disease 10.1
23 neuropathy 10.1
24 dysphagia 10.1
25 cleft palate, isolated 10.1
26 hypogonadotropic hypogonadism 10.1
27 monocular esotropia 10.1
28 heart septal defect 10.1
29 placental insufficiency 10.1
30 myopathy 10.1
31 esotropia 10.1
32 dwarfism 10.1
33 hypotonia 10.1
34 autism spectrum disorder 10.1
35 ankyloglossia with or without tooth anomalies 10.0
36 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.0
37 torticollis 10.0
38 branchiootic syndrome 1 10.0
39 polydactyly 10.0
40 cyanosis, transient neonatal 10.0
41 brachydactyly 10.0
42 respiratory failure 10.0
43 alternating exotropia 10.0
44 exotropia 10.0
45 fissured tongue 10.0
46 multiple cranial nerve palsy 10.0
47 atrial heart septal defect 10.0
48 cerebral palsy 10.0
49 malignant hyperthermia 10.0
50 narcolepsy 10.0

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



Diseases related to Moebius Syndrome

Symptoms & Phenotypes for Moebius Syndrome

Human phenotypes related to Moebius Syndrome:

58 31 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 facial palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0010628
3 feeding difficulties in infancy 58 31 hallmark (90%) Very frequent (99-80%) HP:0008872
4 strabismus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000486
5 mask-like facies 58 31 hallmark (90%) Very frequent (99-80%) HP:0000298
6 ophthalmoplegia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000602
7 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
8 abnormality of the voice 58 31 hallmark (90%) Very frequent (99-80%) HP:0001608
9 dysphagia 58 31 frequent (33%) Frequent (79-30%) HP:0002015
10 corneal opacity 58 31 frequent (33%) Frequent (79-30%) HP:0007957
11 everted lower lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000232
12 motor delay 58 31 frequent (33%) Frequent (79-30%) HP:0001270
13 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
14 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
15 aplasia of the pectoralis major muscle 58 31 frequent (33%) Frequent (79-30%) HP:0009751
16 hypotonia 31 frequent (33%) HP:0001252
17 high palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000218
18 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
19 abnormality of the ulna 58 31 occasional (7.5%) Occasional (29-5%) HP:0002997
20 visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000505
21 skeletal muscle atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003202
22 microdontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000691
23 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
24 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
25 micrognathia 58 31 very rare (1%) Occasional (29-5%) HP:0000347
26 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
27 multiple cafe-au-lait spots 58 31 occasional (7.5%) Occasional (29-5%) HP:0007565
28 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
29 reduced number of teeth 58 31 occasional (7.5%) Occasional (29-5%) HP:0009804
30 blepharitis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000498
31 finger syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0006101
32 arthrogryposis multiplex congenita 58 31 very rare (1%) Occasional (29-5%) HP:0002804
33 abnormality of the sense of smell 58 31 occasional (7.5%) Occasional (29-5%) HP:0004408
34 aplasia/hypoplasia of the thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0009601
35 aplasia/hypoplasia of the tongue 58 31 occasional (7.5%) Occasional (29-5%) HP:0010295
36 absent hand 58 31 occasional (7.5%) Occasional (29-5%) HP:0004050
37 aplasia/hypoplasia of the radius 58 31 occasional (7.5%) Occasional (29-5%) HP:0006501
38 aplasia/hypoplasia involving the metacarpal bones 58 31 occasional (7.5%) Occasional (29-5%) HP:0005914
39 breast aplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0100783
40 hypogonadotropic hypogonadism 31 occasional (7.5%) HP:0000044
41 hypertelorism 31 very rare (1%) HP:0000316
42 abnormality of the dentition 31 very rare (1%) HP:0000164
43 delayed speech and language development 31 very rare (1%) HP:0000750
44 bifid uvula 31 very rare (1%) HP:0000193
45 dysarthria 31 HP:0001260
46 gait disturbance 31 HP:0001288
47 short neck 31 HP:0000470
48 muscular hypotonia 58 Frequent (79-30%)
49 depressed nasal bridge 31 HP:0005280
50 pes planus 31 HP:0001763

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
dysarthria
delayed motor development
mental retardation, mild
hypotonia in infancy
learning disabilities
more
Head And Neck Neck:
short neck

Head And Neck Face:
mask-like facies
facial paresis, usually bilateral
lower facial muscles may be spared
micrognathia (64% of patients)

Head And Neck Eyes:
microphthalmia
esotropia
exotropia
abduction palsy, usually bilateral
adduction palsy, usually bilateral
more
Genitourinary External Genitalia Male:
small penis
poorly-developed scrotum

Endocrine Features:
hypogonadotropic hypogonadism (rare)

Head And Neck Nose:
flattened nasal bridge (81%)

Respiratory:
respiratory difficulties in infancy

Skeletal:
arthrogryposis (6%)

Skeletal Limbs:
lower limb deformities (69%)
hypoplasia of the lower limbs
anisomelia

Neurologic Peripheral Nervous System:
loss of sensation in the face (trigeminal nerve region, cn v) (11%)
peripheral neuropathy has been reported in rare cases

Abdomen Gastrointestinal:
dysphagia
feeding problems in infancy

Skeletal Feet:
pes planus
talipes equinovarus (44%)

Skeletal Hands:
brachydactyly
ectrodactyly
camptodactyly
clinodactyly
syndactyly
more
Head And Neck Mouth:
palatal weakness
high-arched palate (61%)
tongue hypoplasia (77%)
asymmetric size of the tongue
limited tongue movement
more
Genitourinary Internal Genitalia Male:
hypoplastic testes

Head And Neck Ears:
external ear defects (47%)

Head And Neck Teeth:
teeth defects (37%)

Respiratory Nasopharynx:
pharyngeal weakness

Skeletal Pelvis:
hip defects

Skin Nails Hair Nails:
nail deformities

Voice:
nasal dysarthria

Clinical features from OMIM®:

157900 (Updated 05-Apr-2021)

UMLS symptoms related to Moebius Syndrome:


palatal weakness

MGI Mouse Phenotypes related to Moebius Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 CDX2 EBF3 FGF9 GSX1 NEUROG1 PLXND1

Drugs & Therapeutics for Moebius Syndrome

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Impairments of Oral Language in Subjects With the Möbius Sequence Completed NCT00856531
2 Study on Moebius Syndrome and Other Congenital Facial Weakness Disorders Completed NCT02055248
3 Genetic Studies of Strabismus, Congenital Cranial Dysinnervation Disorders (CCDDs), and Their Associated Anomalies Recruiting NCT03059420

Search NIH Clinical Center for Moebius Syndrome

Cochrane evidence based reviews: mobius syndrome

Genetic Tests for Moebius Syndrome

Genetic tests related to Moebius Syndrome:

# Genetic test Affiliating Genes
1 Oromandibular-Limb Hypogenesis Spectrum 29

Anatomical Context for Moebius Syndrome

MalaCards organs/tissues related to Moebius Syndrome:

40
Eye, Tongue, Skeletal Muscle, Breast, Bone, Testes, Pituitary

Publications for Moebius Syndrome

Articles related to Moebius Syndrome:

(show top 50) (show all 364)
# Title Authors PMID Year
1
New report of a familial case of Moebius syndrome presenting skeletal findings. 57 61
20635408 2010
2
The spectrum of Mobius syndrome: an electrophysiological study. 61 57
15829555 2005
3
Moebius syndrome, an axonal neuropathy and hypogonadism. 57 61
8905202 1996
4
Moebius syndrome in association with hypogonadotropic hypogonadism. 61 57
1940066 1991
5
Deletion of chromosome 13 in Moebius syndrome. 57 61
1870098 1991
6
The Moebius syndrome: aetiology, incidence of mental retardation, and genetics. 57 61
2213851 1990
7
Moebius syndrome. 57 61
2319579 1990
8
Moebius' syndrome with unilateral cerebellar hypoplasia. 61 57
2810343 1989
9
Abnormal B.A.E.P. in a family with Moebius syndrome: evidence for supranuclear lesion. 57 61
6723108 1984
10
Moebius syndrome in a child and extremity defect in her father. 61 57
7160102 1982
11
Heterogeneity and pleiotropism in the Moebius syndrome. 57 61
7333017 1981
12
Mobius syndrome and Poland anomaly: case report and review of the literature. 57 61
521879 1979
13
Moebius syndrome, peripheral neuropathy and hypogonadotrophic hypogonadism. 57 61
204751 1978
14
Moebius syndrome in Kallmann syndrome. 61 57
166632 1975
15
Moebius syndrome. Lower motor neuron involvement and hypogonadotrophic hypogonadism. 61 57
5528546 1970
16
HOXB1 founder mutation in humans recapitulates the phenotype of Hoxb1-/- mice. 57
22770981 2012
17
Moebius sequence: behaviour problems of preschool children and parental stress. 57
18019367 2007
18
Neuropsychiatric findings of Möbius sequence -- a review. 57
16879188 2006
19
The localization of facial motor impairment in sporadic Möbius syndrome. 57
16801658 2006
20
Paul Julius Möbius (1853-1907). 57
15895276 2005
21
Radiologic evidence for absence of the facial nerve in Möbius syndrome. 57
15753421 2005
22
The neuropathology of hereditary congenital facial palsy vs Möbius syndrome. 57
15728286 2005
23
Moebius sequence and hypogonadotrophic hypogonadism. 57
14556256 2003
24
Möbius syndrome redefined: a syndrome of rhombencephalic maldevelopment. 57
12913192 2003
25
MRI findings in Möbius syndrome: correlation with clinical features. 57
11061273 2000
26
Möbius-like syndrome associated with a 1;2 chromosome translocation. 57
9112001 1997
27
Localization of a gene for Möbius syndrome to chromosome 3q by linkage analysis in a Dutch family. 57
8872479 1996
28
Broad-spectrum Möbius syndrome associated with a 1;11 chromosome translocation. 57
8345951 1993
29
Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'. 57
1999828 1991
30
The syndrome of Möbius sequence, peripheral neuropathy, and hypogonadotropic hypogonadism. 57
2260611 1990
31
MCA/MR syndrome with oligodactyly and Möbius anomaly in first cousins: new syndrome or familial facial-limb disruption sequence? 57
2624259 1989
32
Henry M. Thomas: Johns Hopkins's first neurologist. 57
7033632 1982
33
Poland-Möbius syndrome. 57
7024548 1981
34
Möbius syndrome. Neuropathologic observations. 57
506685 1979
35
Genetics of Möbius syndrome. 57
604491 1977
36
Three-generation pedigree of a Möbius syndrome variant with chromosome translocation. 57
880069 1977
37
Möbius syndrome in twins. 57
5474758 1970
38
[Familial congenital disorders of motility of the eye]. 57
13927083 1963
39
Moebius's syndrome; congenital oculofacial paralysis. 57
13280027 1956
40
Oromandibular Limb Hypogenesis Syndrome: Overlap of Moebius and Ankyloglossia Superior With Severe Limb Defects. 61
32909817 2021
41
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. 61
33389762 2021
42
Imaging of congenital cranial dysinnervation disorders: What radiologist wants to know? 61
33189029 2021
43
Prevalence of Hand Malformations in Patients With Moebius Syndrome and Their Management. 61
33641474 2021
44
Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant. 61
33474647 2021
45
Cephalometric Analysis of the Craniofacial Morphology in Patients With Moebius Syndrome. 61
33606435 2021
46
Long-term results of facial animation surgery in patients with Moebius syndrome. 61
33191114 2020
47
Diagnosis and treatment of speech disorders in children with Moebius syndrome. 61
32829202 2020
48
Management of a case of anticipated difficult airway in a patient with Moebius syndrome. 61
33487687 2020
49
Adjustable graded augmentation of superior rectus transposition for treatment of abducens nerve palsy and Duane syndrome. 61
32977023 2020
50
Poland-Mobius Syndrome With Unilateral Vocal Cord Paralysis in a Neonate. 61
33042661 2020

Variations for Moebius Syndrome

ClinVar genetic disease variations for Moebius Syndrome:

6 (show all 27)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EBF3 NM_001005463.3(EBF3):c.577A>G (p.Lys193Glu) SNV Likely pathogenic 267357 rs886040976 GRCh37: 10:131676091-131676091
GRCh38: 10:129877827-129877827
2 KDM6B NM_001080424.2(KDM6B):c.753_755ACC[15] (p.Pro263_Pro264dup) Microsatellite Uncertain significance 254122 rs61462443 GRCh37: 17:7750177-7750178
GRCh38: 17:7846859-7846860
3 INTS6L NM_001351606.2(INTS6L):c.-165del Deletion Uncertain significance 254120 rs782242788 GRCh37: X:134680317-134680317
GRCh38: X:135546392-135546392
4 NPIPA5 NM_001277325.2(NPIPA5):c.962C>T (p.Pro321Leu) SNV Uncertain significance 254123 rs886037884 GRCh37: 16:15457607-15457607
GRCh38: 16:15363750-15363750
5 ZNF787 NM_001002836.4(ZNF787):c.1086G>C (p.Glu362Asp) SNV Uncertain significance 254121 rs202243737 GRCh37: 19:56599455-56599455
GRCh38: 19:56088086-56088086
6 ADAMTS8 NM_007037.6(ADAMTS8):c.2109C>A (p.Tyr703Ter) SNV Uncertain significance 254118 rs199760382 GRCh37: 11:130276014-130276014
GRCh38: 11:130406119-130406119
7 BSN NM_003458.4(BSN):c.7374_7385GCAGCAGCAGCT[1] (p.2459_2462QQQL[1]) Microsatellite Uncertain significance 254119 rs759806020 GRCh37: 3:49694355-49694366
GRCh38: 3:49656922-49656933
8 HSPB7 NM_014424.4(HSPB7):c.442A>G (p.Thr148Ala) SNV Likely benign 254117 rs530970423 GRCh37: 1:16342146-16342146
GRCh38: 1:16015651-16015651
9 BCDIN3D NM_181708.3(BCDIN3D):c.23A>G (p.Asp8Gly) SNV Likely benign 254103 rs143608766 GRCh37: 12:50236848-50236848
GRCh38: 12:49843065-49843065
10 HECW2 NM_001348768.2(HECW2):c.2264_2266AAG[2] (p.Glu757del) Microsatellite Likely benign 254099 rs757981529 GRCh37: 2:197183342-197183344
GRCh38: 2:196318618-196318620
11 CDH11 NM_001797.4(CDH11):c.1247C>T (p.Pro416Leu) SNV Likely benign 254107 rs200234049 GRCh37: 16:65015957-65015957
GRCh38: 16:64982054-64982054
12 MRPL28 NM_006428.5(MRPL28):c.610G>A (p.Val204Met) SNV Likely benign 254104 rs181590179 GRCh37: 16:418381-418381
GRCh38: 16:368381-368381
13 FAM71A NM_153606.4(FAM71A):c.1465T>C (p.Ser489Pro) SNV Likely benign 254110 rs767737768 GRCh37: 1:212799684-212799684
GRCh38: 1:212626342-212626342
14 PLCB2 NM_004573.3(PLCB2):c.2585C>A (p.Thr862Lys) SNV Likely benign 254113 rs779256250 GRCh37: 15:40584067-40584067
GRCh38: 15:40291866-40291866
15 HECW2 NM_001348768.2(HECW2):c.3394G>A (p.Asp1132Asn) SNV Likely benign 254098 rs552109642 GRCh37: 2:197122572-197122572
GRCh38: 2:196257848-196257848
16 FAM71A NM_153606.4(FAM71A):c.1475G>A (p.Gly492Asp) SNV Likely benign 254111 rs886037883 GRCh37: 1:212799694-212799694
GRCh38: 1:212626352-212626352
17 KBTBD7 , LOC101929140 NM_032138.7(KBTBD7):c.1496C>G (p.Pro499Arg) SNV Likely benign 254108 rs754048481 GRCh37: 13:41766898-41766898
GRCh38: 13:41192762-41192762
18 CDH11 NM_001797.4(CDH11):c.95G>A (p.Arg32Gln) SNV Likely benign 254106 rs757142171 GRCh37: 16:65038678-65038678
GRCh38: 16:65004775-65004775
19 HECW2 NM_001348768.2(HECW2):c.1249_1251del (p.Asn417del) Deletion Likely benign 254100 rs774571391 GRCh37: 2:197184363-197184365
GRCh38: 2:196319639-196319641
20 KBTBD7 , LOC101929140 NM_032138.7(KBTBD7):c.1208A>C (p.Lys403Thr) SNV Likely benign 254109 rs748092018 GRCh37: 13:41767186-41767186
GRCh38: 13:41193050-41193050
21 PLCB2 NM_004573.3(PLCB2):c.1154A>G (p.Lys385Arg) SNV Likely benign 254112 rs769251460 GRCh37: 15:40590425-40590425
GRCh38: 15:40298224-40298224
22 PTCH2 NM_003738.5(PTCH2):c.2018G>T (p.Arg673Leu) SNV Likely benign 254114 rs760548568 GRCh37: 1:45293555-45293555
GRCh38: 1:44827883-44827883
23 PTCH2 NM_003738.5(PTCH2):c.1156A>T (p.Ile386Phe) SNV Likely benign 254115 rs775127172 GRCh37: 1:45295133-45295133
GRCh38: 1:44829461-44829461
24 AMH NM_000479.5(AMH):c.350G>A (p.Arg117Gln) SNV Likely benign 254116 rs185020288 GRCh37: 19:2249681-2249681
GRCh38: 19:2249682-2249682
25 MRPL28 NM_006428.5(MRPL28):c.176G>C (p.Arg59Pro) SNV Likely benign 254105 rs149440376 GRCh37: 16:420043-420043
GRCh38: 16:370043-370043
26 SIM1 NM_005068.2(SIM1):c.1994G>A (p.Arg665His) SNV Likely benign 254102 rs146866401 GRCh37: 6:100838544-100838544
GRCh38: 6:100390668-100390668
27 SIM1 NM_005068.2(SIM1):c.2119G>C (p.Asp707His) SNV Likely benign 254101 rs74726213 GRCh37: 6:100838419-100838419
GRCh38: 6:100390543-100390543

Expression for Moebius Syndrome

Search GEO for disease gene expression data for Moebius Syndrome.

Pathways for Moebius Syndrome

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

# Super pathways Score Top Affiliating Genes
1 10.42 PPP1R12A NEUROG1 CDX2

GO Terms for Moebius Syndrome

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

(show all 20)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.07 PLXND1 NEUROG1 GSX1 FGF9 EBF3 CDX2
2 inner ear morphogenesis GO:0042472 9.76 TIFAB NEUROG1 DCANP1
3 inner ear development GO:0048839 9.75 TIFAB NEUROG1 DCANP1
4 neuromuscular process controlling balance GO:0050885 9.74 TIFAB NEUROG1 DCANP1
5 cochlea development GO:0090102 9.73 TIFAB NEUROG1 DCANP1
6 cochlea morphogenesis GO:0090103 9.72 TIFAB NEUROG1 DCANP1
7 craniofacial suture morphogenesis GO:0097094 9.71 TIFAB NEUROG1 DCANP1
8 genitalia development GO:0048806 9.7 TIFAB NEUROG1 DCANP1
9 peristalsis GO:0030432 9.69 TIFAB NEUROG1 DCANP1
10 trigeminal nerve development GO:0021559 9.67 TIFAB NEUROG1 DCANP1
11 auditory behavior GO:0031223 9.65 TIFAB NEUROG1 DCANP1
12 vestibulocochlear nerve formation GO:0021650 9.63 TIFAB NEUROG1 DCANP1
13 thorax and anterior abdomen determination GO:0007356 9.61 TIFAB NEUROG1 DCANP1
14 negative regulation of relaxation of muscle GO:1901078 9.58 TIFAB NEUROG1 DCANP1
15 genitalia morphogenesis GO:0035112 9.54 TIFAB NEUROG1 DCANP1
16 hard palate morphogenesis GO:1905748 9.5 TIFAB NEUROG1 DCANP1
17 negative regulation of saliva secretion GO:1905747 9.43 TIFAB NEUROG1 DCANP1
18 learned vocalization behavior GO:0098583 9.33 TIFAB NEUROG1 DCANP1
19 mastication GO:0071626 9.13 TIFAB NEUROG1 DCANP1
20 regulation of muscle organ development GO:0048634 8.8 TIFAB NEUROG1 DCANP1

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

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.55 SOX14 NEUROG1 GSX1 EBF3 CDX2
2 sequence-specific double-stranded DNA binding GO:1990837 9.26 SOX14 NEUROG1 GSX1 CDX2
3 DNA binding GO:0003677 9.17 SOX14 REV3L NEUROG1 GSX1 EBF3 DCANP1

Sources for Moebius Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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