MFDGA
MCID: MND020
MIFTS: 50

Mandibulofacial Dysostosis, Guion-Almeida Type (MFDGA)

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

Aliases & Classifications for Mandibulofacial Dysostosis, Guion-Almeida Type

MalaCards integrated aliases for Mandibulofacial Dysostosis, Guion-Almeida Type:

Name: Mandibulofacial Dysostosis, Guion-Almeida Type 57 12 25 20 43 58 13 15
Mandibulofacial Dysostosis with Microcephaly 57 12 25 20 43 72 36
Mandibulofacial Dysostosis-Microcephaly Syndrome 12 20 58 29 6
Mfdga 57 25 20 43
Mfdm 57 20 43 72
Mfdm Syndrome 12 20 58
Growth and Mental Retardation, Mandibulofacial Dysostosis, Microcephaly, and Cleft Palate 57 70
Growth Delay-Intellectual Disability-Mandibulofacial Dysostosis-Microcephaly-Cleft Palate Syndrome 20
Growth Delay - Intellectual Disability - Mandibulofacial Dysostosis - Microcephaly - Cleft Palate 20
Growth and Mental Retardation Mandibulofacial Dysostosis Microcephaly and Cleft Palate 72
Mandibulofacial Dysostosis with Microcephaly; Mfdm 57
Dysostosis, Mandibulofacial, Guion-Almeida Type 39

Characteristics:

Orphanet epidemiological data:

58
mandibulofacial dysostosis-microcephaly syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

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

Miscellaneous:
de novo mutation resulting in haploinsufficiency of eftud2


HPO:

31
mandibulofacial dysostosis, guion-almeida type:
Inheritance autosomal dominant inheritance


GeneReviews:

25
Penetrance Mfdm is highly penetrant but variably expressive. features may be subclinical in some affected individuals, as in the case of two non-mosaic, intellectually normal mothers – each with two affected children – in whom the only reported clinical findings were unilateral zygomatic cleft and facial asymmetry [voigt et al 2013] and mild facial asymmetry and a preauricular tag [mcdermott et al 2017].

Classifications:

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


Summaries for Mandibulofacial Dysostosis, Guion-Almeida Type

MedlinePlus Genetics : 43 Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder that causes abnormalities of the head and face. People with this disorder often have an unusually small head at birth, and the head does not grow at the same rate as the rest of the body, so it appears that the head is getting smaller as the body grows (progressive microcephaly). Affected individuals have developmental delay and intellectual disability that can range from mild to severe. Speech and language problems are also common in this disorder.Facial abnormalities that occur in MFDM include underdevelopment of the middle of the face and the cheekbones (midface and malar hypoplasia) and an unusually small lower jaw (mandibular hypoplasia, also called micrognathia). The external ears are small and abnormally shaped, and they may have skin growths in front of them called preauricular tags. There may also be abnormalities of the ear canal, the tiny bones in the ears (ossicles), or a part of the inner ear called the semicircular canals. These ear abnormalities lead to hearing loss in most affected individuals. Some people with MFDM have an opening in the roof of the mouth (cleft palate), which may also contribute to hearing loss by increasing the risk of ear infections. Affected individuals can also have a blockage of the nasal passages (choanal atresia) that can cause respiratory problems.Heart problems, abnormalities of the thumbs, and short stature are other features that can occur in MFDM. Some people with this disorder also have blockage of the esophagus (esophageal atresia). In esophageal atresia, the upper esophagus does not connect to the lower esophagus and stomach. Most babies born with esophageal atresia (EA) also have a tracheoesophageal fistula (TEF), in which the esophagus and the trachea are abnormally connected, allowing fluids from the esophagus to get into the airways and interfere with breathing. Esophageal atresia/tracheoesophageal fistula (EA/TEF) is a life-threatening condition; without treatment, it prevents normal feeding and can cause lung damage from repeated exposure to esophageal fluids.

MalaCards based summary : Mandibulofacial Dysostosis, Guion-Almeida Type, also known as mandibulofacial dysostosis with microcephaly, is related to dysostosis and choanal atresia, posterior. An important gene associated with Mandibulofacial Dysostosis, Guion-Almeida Type is EFTUD2 (Elongation Factor Tu GTP Binding Domain Containing 2), and among its related pathways/superpathways are Spliceosome and Gene Expression. Affiliated tissues include trachea and skin, and related phenotypes are intellectual disability and delayed speech and language development

Disease Ontology : 12 A syndrome characterized by progressive microcephaly, micrognathia, microtia, dysplastic ears, preauricular skin tags, speech delay, significant developmental delay, midface and malar hypoplasia.

GARD : 20 Mandibulofacial dysostosis with microcephaly (MFDM) is a disorder characterized by developmental delay and abnormalities of the head and face. Affected people are usually born with a small head that does not grow at the same rate as the body (progressive microcephaly ). Developmental delay and intellectual disability can range from mild to severe. Facial abnormalities may include underdevelopment of the midface and cheekbones; a small lower jaw; small and abnormally-shaped ears; and other distinctive facial features. Other features of MFDM may include hearing loss, cleft palate, heart problems, abnormalities of the thumbs, abnormalities of the trachea and/or esophagus, and short stature. MFDM is caused by mutations in the EFTUD2 gene and is inherited in an autosomal dominant manner.

OMIM® : 57 Mandibulofacial dysostosis with microcephaly is a rare syndrome comprising progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate (summary by Lines et al., 2012). (610536) (Updated 05-Apr-2021)

KEGG : 36 Mandibulofacial dysostosis with microcephaly (MFDM) is a rare autosomal dominant congenital anomaly syndrome. Affected patients have been primarily described as presenting with microcephaly, midface hypoplasia, micrognathia, characteristic external ear abnormalities, and significant global developmental delay. In addition, several affected individuals have also presented with delayed brain myelination and abnormal white matter on magnetic resonance imaging (MRI), choanal and aural atresia, cleft palate, congenital heart defects, bilateral hearing loss, cryptorchidism, proximally placed thumbs, and expressive language delay. Haploinsufficiency of a spliceosomal GTPase, EFTUD2, is responsible.

UniProtKB/Swiss-Prot : 72 Mandibulofacial dysostosis with microcephaly: A rare syndrome characterized by progressive microcephaly, midface and malar hypoplasia, micrognathia, microtia, dysplastic ears, preauricular skin tags, significant developmental delay, and speech delay. Many patients have major sequelae, including choanal atresia that results in respiratory difficulties, conductive hearing loss, and cleft palate.

GeneReviews: NBK214367

Related Diseases for Mandibulofacial Dysostosis, Guion-Almeida Type

Diseases related to Mandibulofacial Dysostosis, Guion-Almeida Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 46)
# Related Disease Score Top Affiliating Genes
1 dysostosis 30.9 SF3B4 RNU4ATAC EIF4A3 EFTUD2
2 choanal atresia, posterior 30.5 TXNL4A EFTUD2
3 radioulnar synostosis 30.4 SF3B4 RNU4ATAC EFTUD2
4 treacher collins syndrome 1 29.8 TXNL4A SF3B4 POLR1D EFTUD2
5 cleft palate, isolated 10.5
6 esophageal atresia 10.4
7 microcephaly 10.4
8 tracheoesophageal fistula with or without esophageal atresia 10.4
9 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
10 hypertelorism 10.2
11 charge syndrome 10.2
12 abnormal hair, joint laxity, and developmental delay 10.2
13 branchiootic syndrome 1 10.2
14 alacrima, achalasia, and mental retardation syndrome 10.2
15 inguinal hernia 10.2
16 esophageal atresia/tracheoesophageal fistula 10.2
17 sensorineural hearing loss 10.2
18 synostosis 10.2
19 refractive error 10.2
20 plagiocephaly 10.2
21 cerebral atrophy 10.2
22 dysphagia 10.2
23 seizure disorder 10.2
24 microtia 10.2
25 retinitis pigmentosa 63 10.1 SNRNP200 PRPF6
26 short-rib thoracic dysplasia 5 with or without polydactyly 10.1 GNAI3 EFTUD2
27 retinitis 10.0 SNRNP200 PRPF8 PRPF3
28 cerebrocostomandibular syndrome 10.0 SNRPB SF3B4 RNU4ATAC EFTUD2
29 retinitis pigmentosa 31 9.9 PRPF8 PRPF3
30 retinitis pigmentosa 57 9.9 SNRNP200 EFTUD2 AAR2
31 isolated growth hormone deficiency 9.9 RNU4ATAC PRPF4 PRPF3
32 retinitis pigmentosa 11 9.9 PRPF8 PRPF6 PRPF3
33 stargardt disease 9.8 SNRNP200 PRPF8 PRPF3
34 postaxial acrofacial dysostosis 9.8 SF3B4 POLR1D EFTUD2
35 eye degenerative disease 9.8 SNRNP200 RNU4ATAC PRPF8 PRPF3
36 hemifacial microsomia 9.7 POLR1D EFTUD2
37 retinitis pigmentosa 13 9.7 SNRNP200 PRPF8 PRPF6 PRPF3 EFTUD2
38 retinitis pigmentosa 18 9.7 PRPF8 PRPF6 PRPF4 PRPF3
39 isolated growth hormone deficiency, type ia 9.6 SNRNP200 RNU4ATAC PRPF8 PRPF4 PRPF3
40 retinitis pigmentosa 33 9.6 SNRNP200 PRPF8 PRPF6 PRPF4 PRPF3
41 acrofacial dysostosis 1, nager type 9.5 TXNL4A SNRPB SF3B4 POLR1D EFTUD2
42 microcephalic osteodysplastic primordial dwarfism, type i 9.4 SNRNP200 RNU4ATAC PRPF8 PRPF4 PRPF3 GPKOW
43 acrofacial dysostosis 9.4 TXNL4A SF3B4 POLR1D EIF4A3 EFTUD2
44 burn-mckeown syndrome 9.4 TXNL4A SNRPB SNRNP40 SF3B4 PRPF6 PRPF4
45 fundus dystrophy 9.4 SNRNP200 RNU4ATAC PRPF8 PRPF6 PRPF4 PRPF3
46 retinitis pigmentosa 9.0 SNRNP200 RNU4ATAC PRPF8 PRPF6 PRPF4 PRPF3

Graphical network of the top 20 diseases related to Mandibulofacial Dysostosis, Guion-Almeida Type:



Diseases related to Mandibulofacial Dysostosis, Guion-Almeida Type

Symptoms & Phenotypes for Mandibulofacial Dysostosis, Guion-Almeida Type

Human phenotypes related to Mandibulofacial Dysostosis, Guion-Almeida Type:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 microtia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008551
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
7 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
8 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
9 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
10 upslanted palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000582
11 preauricular skin tag 58 31 hallmark (90%) Very frequent (99-80%) HP:0000384
12 malar flattening 58 31 hallmark (90%) Very frequent (99-80%) HP:0000272
13 abnormality of the antihelix 58 31 hallmark (90%) Very frequent (99-80%) HP:0009738
14 trigonocephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000243
15 feeding difficulties 58 31 hallmark (90%) Very frequent (99-80%) HP:0011968
16 postnatal microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0005484
17 underdeveloped tragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0011272
18 morphological abnormality of the middle ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0008609
19 absent tragus 58 31 hallmark (90%) Very frequent (99-80%) HP:0011268
20 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
21 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
22 telecanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000506
23 preaxial hand polydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001177
24 large earlobe 58 31 frequent (33%) Frequent (79-30%) HP:0009748
25 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
26 accessory oral frenulum 58 31 frequent (33%) Frequent (79-30%) HP:0000191
27 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
28 conductive hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000405
29 ventricular septal defect 31 occasional (7.5%) HP:0001629
30 proximal placement of thumb 31 occasional (7.5%) HP:0009623
31 esophageal atresia 31 occasional (7.5%) HP:0002032
32 seizure 31 occasional (7.5%) HP:0001250
33 seizures 58 Occasional (29-5%)
34 global developmental delay 31 HP:0001263
35 microcephaly 31 HP:0000252
36 anteverted nares 31 HP:0000463
37 feeding difficulties in infancy 31 HP:0008872
38 downslanted palpebral fissures 31 HP:0000494
39 choanal atresia 31 HP:0000453
40 deep philtrum 31 HP:0002002
41 midface retrusion 31 HP:0011800
42 respiratory distress 31 HP:0002098
43 slender finger 31 HP:0001238
44 abnormality of the outer ear 58 Very frequent (99-80%)
45 progressive microcephaly 31 HP:0000253
46 mandibulofacial dysostosis 31 HP:0005321

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Nose:
short nose
anteverted nares
choanal atresia (in some patients)
upturned nose

Head And Neck Face:
micrognathia
midface hypoplasia
prominent philtrum
malar hypoplasia
buccal tags

Head And Neck Eyes:
telecanthus
downslanting palpebral fissures
epicanthal folds
upslanting palpebral fissures

Skeletal Hands:
preaxial polydactyly
slender fingers
proximally placed thumbs (in some patients)

Head And Neck Mouth:
cleft palate (in some patients)

Growth Height:
short stature (of varying degrees)

Head And Neck Ears:
microtia
low-set ears
conductive hearing loss
dysplastic ears
preauricular skin tags
more
Cardiovascular Heart:
atrial septal defect
ventricular septal defect (in some patients)

Head And Neck Head:
trigonocephaly
microcephaly, progressive (-3 to 6 sd)

Neurologic Central Nervous System:
seizures (in some patients)
delayed psychomotor development
severe speech delay

Abdomen Gastrointestinal:
feeding problems
esophageal atresia (in some patients)

Respiratory:
breathing difficulties due to choanal atresia

Clinical features from OMIM®:

610536 (Updated 05-Apr-2021)

GenomeRNAi Phenotypes related to Mandibulofacial Dysostosis, Guion-Almeida Type according to GeneCards Suite gene sharing:

26 (show all 26)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 10.73 PRPF8 SNRNP200 SNRPB
2 Decreased homologous recombination repair frequency GR00151-A-2 10.73 SNRNP200
3 Decreased homologous recombination repair frequency GR00236-A-1 10.73 PRPF6 PRPF8 SF3B4 SNRNP200 SNRPB
4 Decreased homologous recombination repair frequency GR00236-A-2 10.73 PRPF6 PRPF8 SF3B4 SNRNP200 SNRPB
5 Decreased homologous recombination repair frequency GR00236-A-3 10.73 PRPF6 SF3B4 SNRNP200 SNRPB
6 Decreased viability GR00106-A-0 10.39 EIF4A3
7 Decreased viability GR00240-S-1 10.39 EFTUD2 EIF4A3 PRPF3 PRPF6 PRPF8
8 Decreased viability GR00249-S 10.39 EFTUD2 EIF4A3 PRPF8
9 Decreased viability GR00381-A-1 10.39 EIF4A3
10 Decreased viability GR00386-A-1 10.39 EFTUD2 EIF4A3 PRPF8
11 Decreased viability GR00402-S-2 10.39 EFTUD2 EIF4A3 PRPF3 PRPF6 PRPF8
12 Increased gamma-H2AX phosphorylation GR00053-A 10.02 EFTUD2 EIF4A3 GPKOW PRPF3 PRPF4 PRPF6
13 Decreased influenza A virus infection GR00147-A-1 9.93 EFTUD2 PRPF8 SNRPB
14 Decreased influenza A virus infection GR00147-A-2 9.93 EFTUD2 PRPF8 SNRPB
15 FOXO1 nuclear localization GR00247-A-1 9.88 EFTUD2 PRPF6 SNRNP200
16 FOXO1 nuclear localization GR00247-A-2 9.88 EFTUD2 PRPF6 SNRNP200
17 Increased Nanog expression GR00371-A-3 9.87 EIF4A3 PRPF6 SNRNP200 SNRPB
18 Increased Nanog expression GR00371-A-4 9.87 EIF4A3
19 Increased Nanog expression GR00371-A-5 9.87 PRPF6 SNRNP200
20 Decreased influenza A H1N1 (A/Hamburg/04/2009) virus numbers GR00195-A-3 9.67 EIF4A3 PRPF8 TXNL4A
21 Decreased influenza A H1N1 (A/WSN/33) virus numbers GR00195-A-2 9.65 EIF4A3 PRPF8 TXNL4A
22 Increased number of mitotic cells GR00098-A-3 9.65 AAR2 EFTUD2 EIF4A3 PRPF8 SF3B4
23 Increased Sindbis virus (SINV) infection GR00310-A-1 9.16 GNAI3
24 Increased Sindbis virus (SINV) infection GR00310-A-2 9.16 GNAI3
25 Mitotic spindle defects GR00099-A 8.8 EIF4A3 PRPF6 PRPF8
26 Mitotic arrest, spindle defect GR00097-A 8.65 EIF4A3

Drugs & Therapeutics for Mandibulofacial Dysostosis, Guion-Almeida Type

Search Clinical Trials , NIH Clinical Center for Mandibulofacial Dysostosis, Guion-Almeida Type

Genetic Tests for Mandibulofacial Dysostosis, Guion-Almeida Type

Genetic tests related to Mandibulofacial Dysostosis, Guion-Almeida Type:

# Genetic test Affiliating Genes
1 Mandibulofacial Dysostosis-Microcephaly Syndrome 29 EFTUD2

Anatomical Context for Mandibulofacial Dysostosis, Guion-Almeida Type

MalaCards organs/tissues related to Mandibulofacial Dysostosis, Guion-Almeida Type:

40
Trachea, Skin

Publications for Mandibulofacial Dysostosis, Guion-Almeida Type

Articles related to Mandibulofacial Dysostosis, Guion-Almeida Type:

(show all 50)
# Title Authors PMID Year
1
Haploinsufficiency of a spliceosomal GTPase encoded by EFTUD2 causes mandibulofacial dysostosis with microcephaly. 6 57 61 25
22305528 2012
2
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia. 25 57 6
23188108 2012
3
Mandibulofacial dysostosis with microcephaly: A case presenting with seizures. 61 6 25
27670155 2017
4
Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update. 61 6 25
26507355 2016
5
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 57 6
22541558 2012
6
Microcephaly, microtia, preauricular tags, choanal atresia and developmental delay in three unrelated patients: a mandibulofacial dysostosis distinct from Treacher Collins syndrome. 57 6
19334086 2009
7
A new syndrome with growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate. 6 57
16760738 2006
8
Treacher Collins syndrome: a clinical and molecular study based on a large series of patients. 25 57
25790162 2016
9
Clinical application of exome sequencing in undiagnosed genetic conditions. 57 25
22581936 2012
10
Mandibulofacial syndrome with growth and mental retardation, microcephaly, ear anomalies with skin tags, and cleft palate in a mother and her son: autosomal dominant or X-linked syndrome? 57 25
19921636 2009
11
EFTUD2 gene deficiency disrupts osteoblast maturation and inhibits chondrocyte differentiation via activation of the p53 signaling pathway. 25 61
31806011 2019
12
Mandibulofacial dysostosis with microcephaly: a syndrome to remember. 25 61
31413053 2019
13
Novel De Novo EFTUD2 Mutations in 2 Cases With MFDM, Initially Suspected to Have Alternative Craniofacial Diagnoses. 61 25
30343593 2019
14
Under the mask of Kabuki syndrome: Elucidation of genetic-and phenotypic heterogeneity in patients with Kabuki-like phenotype. 61 25
29307790 2018
15
Mandibulofacial dysostosis Guion-Almeida type caused by novel EFTUD2 splice site variants in two Asian children. 25 61
29381487 2018
16
The Genetics Journey: A Case Report of a Genetic Diagnosis Made 30 Years Later. 25 61
28612151 2017
17
Whole-exome sequencing identified a variant in EFTUD2 gene in establishing a genetic diagnosis. 61 25
28643921 2017
18
Spliceosomal protein eftud2 mutation leads to p53-dependent apoptosis in zebrafish neural progenitors. 61 25
27899647 2017
19
EFTUD2 deficiency in vertebrates: Identification of a novel human mutation and generation of a zebrafish model. 25 61
26118977 2015
20
Novel de novo mutations in EFTUD2 detected by exome sequencing in mandibulofacial dysostosis with Microcephaly syndrome. 25 61
25735261 2015
21
Array-CGH is an effective first-tier diagnostic test for EFTUD2-associated congenital mandibulofacial dysostosis with microcephaly. 25 61
24266672 2015
22
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients. 61 25
24470203 2014
23
"Mandibulofacial dysostosis with microcephaly" caused by EFTUD2 mutations: expanding the phenotype. 25 61
23239648 2013
24
Esophageal atresia, hypoplasia of zygomatic complex, microcephaly, cup-shaped ears, congenital heart defect, and mental retardation--new MCA/MR syndrome in two affected sibs and a mildly affected mother? 57
17497718 2007
25
Pierre Robin sequence with esophageal atresia and congenital radioulnar synostosis. 57
16681404 2006
26
A new autosomal recessive oto-facial syndrome with midline malformations. 57
15633182 2005
27
Tracheoesophageal anomalies in oculoauriculovertebral (Goldenhar) spectrum. 57
7586653 1995
28
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic. 25
28496993 2017
29
Sibling recurrence of total anomalous pulmonary venous drainage. 25
28286254 2017
30
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 25
25741868 2015
31
Phenotype analysis of Polish patients with mandibulofacial dysostosis type Guion-Almeida associated with esophageal atresia and choanal atresia caused by EFTUD2 gene mutations. 25
25387991 2015
32
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. 25
23879989 2013
33
The spliceosome: design principles of a dynamic RNP machine. 25
19239890 2009
34
The EF-G-like GTPase Snu114p regulates spliceosome dynamics mediated by Brr2p, a DExD/H box ATPase. 25
16885028 2006
35
The ribosomal translocase homologue Snu114p is involved in unwinding U4/U6 RNA during activation of the spliceosome. 25
12189173 2002
36
An evolutionarily conserved U5 snRNP-specific protein is a GTP-binding factor closely related to the ribosomal translocase EF-2. 25
9233818 1997
37
Mandibulofacial dysostosis with microcephaly: An expansion of the phenotype via parental survey. 61
33247512 2021
38
Mutation in Eftud2 causes craniofacial defects in mice via mis-splicing of Mdm2 and increased P53. 61
33601405 2021
39
The Role of the U5 snRNP in Genetic Disorders and Cancer. 61
33584830 2021
40
A novel EFTUD2 mutation identified an adult male with mandibulofacial dysostosis Guion-Almeida type. 61
32541334 2020
41
A de novo synonymous variant in EFTUD2 disrupts normal splicing and causes mandibulofacial dysostosis with microcephaly: case report. 61
32943010 2020
42
First-trimester detection of micrognathia as a presentation of mandibulofacial dysostosis with microcephaly. 61
32799722 2020
43
EFTUD2 missense variants disrupt protein function and splicing in mandibulofacial dysostosis Guion-Almeida type. 61
32333448 2020
44
Novel Splice Site Pathogenic Variant of EFTUD2 Is Associated with Mandibulofacial Dysostosis with Microcephaly and Extracranial Symptoms in Korea. 61
32408545 2020
45
Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies. 61
31509347 2019
46
Disease modeling of core pre-mRNA splicing factor haploinsufficiency. 61
31304552 2019
47
Loss of function mutation of Eftud2, the gene responsible for mandibulofacial dysostosis with microcephaly (MFDM), leads to pre-implantation arrest in mouse. 61
31276534 2019
48
A review of craniofacial disorders caused by spliceosomal defects. 61
25865758 2015
49
Radioulnar Synostosis and Brain Abnormalities in a Patient With 17q21.31 Microdeletion Involving EFTUD2. 61
24805776 2015
50
Mandibulofacial Dysostosis with Microcephaly 61
24999515 2014

Variations for Mandibulofacial Dysostosis, Guion-Almeida Type

ClinVar genetic disease variations for Mandibulofacial Dysostosis, Guion-Almeida Type:

6 (show all 41)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 EFTUD2 NM_004247.4(EFTUD2):c.784C>T (p.Arg262Trp) SNV Pathogenic 30400 rs387906877 GRCh37: 17:42953387-42953387
GRCh38: 17:44876019-44876019
2 EFTUD2 NM_004247.4(EFTUD2):c.2770C>T (p.Gln924Ter) SNV Pathogenic 30401 rs387906878 GRCh37: 17:42929131-42929131
GRCh38: 17:44851763-44851763
3 EFTUD2 NM_004247.4(EFTUD2):c.1759_1760del (p.Val587fs) Deletion Pathogenic 30402 rs879253725 GRCh37: 17:42937373-42937374
GRCh38: 17:44860005-44860006
4 EFTUD2 NM_004247.4(EFTUD2):c.2493C>A (p.Tyr831Ter) SNV Pathogenic 30403 rs879253726 GRCh37: 17:42930732-42930732
GRCh38: 17:44853364-44853364
5 EFTUD2 NM_004247.4(EFTUD2):c.1910T>G (p.Leu637Arg) SNV Pathogenic 30404 rs387906879 GRCh37: 17:42936500-42936500
GRCh38: 17:44859132-44859132
6 EFTUD2 NM_004247.4(EFTUD2):c.2496C>G (p.Tyr832Ter) SNV Pathogenic 31642 rs879253727 GRCh37: 17:42930729-42930729
GRCh38: 17:44853361-44853361
7 EFTUD2 NM_004247.4(EFTUD2):c.623A>G (p.His208Arg) SNV Pathogenic 40047 rs397515431 GRCh37: 17:42957003-42957003
GRCh38: 17:44879635-44879635
8 EFTUD2 NM_004247.4(EFTUD2):c.2823+1del Deletion Pathogenic 40048 rs879253728 GRCh37: 17:42929077-42929077
GRCh38: 17:44851709-44851709
9 EFTUD2 NM_004247.4(EFTUD2):c.764dup (p.Cys256fs) Duplication Pathogenic 203386 rs794729651 GRCh37: 17:42953406-42953407
GRCh38: 17:44876038-44876039
10 EFTUD2 NM_004247.4(EFTUD2):c.1297_1298del (p.Met433fs) Deletion Pathogenic 210915 rs797045551 GRCh37: 17:42941138-42941139
GRCh38: 17:44863770-44863771
11 EFTUD2 NM_004247.4(EFTUD2):c.1149+1G>C SNV Pathogenic 210914 rs797045550 GRCh37: 17:42945174-42945174
GRCh38: 17:44867806-44867806
12 EFTUD2 NM_004247.4(EFTUD2):c.1775_1779del (p.Val592fs) Deletion Pathogenic 431142 rs1135401812 GRCh37: 17:42937354-42937358
GRCh38: 17:44859986-44859990
13 EFTUD2 NM_004247.4(EFTUD2):c.2198G>A (p.Trp733Ter) SNV Pathogenic 435033 rs1555564341 GRCh37: 17:42931985-42931985
GRCh38: 17:44854617-44854617
14 EFTUD2 NM_004247.4(EFTUD2):c.1567del (p.Gln523fs) Deletion Pathogenic 522863 rs1555565774 GRCh37: 17:42940121-42940121
GRCh38: 17:44862753-44862753
15 EFTUD2 NM_004247.4(EFTUD2):c.1414-2A>G SNV Pathogenic 694683 rs1597797917 GRCh37: 17:42940276-42940276
GRCh38: 17:44862908-44862908
16 EFTUD2 NM_004247.4(EFTUD2):c.882del (p.Asp295fs) Deletion Pathogenic 803428 rs1597807512 GRCh37: 17:42949926-42949926
GRCh38: 17:44872558-44872558
17 EFTUD2 NM_004247.4(EFTUD2):c.702G>T (p.Gly234=) SNV Pathogenic 929430 GRCh37: 17:42956924-42956924
GRCh38: 17:44879556-44879556
18 EFTUD2 NM_004247.4(EFTUD2):c.2600del (p.Pro867fs) Deletion Pathogenic 931795 GRCh37: 17:42929892-42929892
GRCh38: 17:44852524-44852524
19 EFTUD2 NM_004247.4(EFTUD2):c.106-1G>C SNV Pathogenic 973219 GRCh37: 17:42964119-42964119
GRCh38: 17:44886751-44886751
20 EFTUD2 NM_004247.4(EFTUD2):c.2562-2_2562-1del Deletion Pathogenic 984919 GRCh37: 17:42929931-42929932
GRCh38: 17:44852563-44852564
21 EFTUD2 NM_004247.4(EFTUD2):c.1732C>T (p.Arg578Ter) SNV Pathogenic 379625 rs1057520673 GRCh37: 17:42937401-42937401
GRCh38: 17:44860033-44860033
22 EFTUD2 NM_004247.4(EFTUD2):c.1058+1G>A SNV Pathogenic 426481 rs1085307647 GRCh37: 17:42945654-42945654
GRCh38: 17:44868286-44868286
23 EFTUD2 NM_004247.4(EFTUD2):c.1331del (p.Gly444fs) Deletion Pathogenic 1029804 GRCh37: 17:42941105-42941105
GRCh38: 17:44863737-44863737
24 EFTUD2 NM_004247.4(EFTUD2):c.2694_2697GTCT[1] (p.Val900fs) Microsatellite Pathogenic 265116 rs886039349 GRCh37: 17:42929791-42929794
GRCh38: 17:44852423-44852426
25 EFTUD2 NM_004247.4(EFTUD2):c.378del (p.Glu127fs) Deletion Pathogenic 1029805 GRCh37: 17:42961065-42961065
GRCh38: 17:44883697-44883697
26 EFTUD2 NM_004247.4(EFTUD2):c.2335C>T (p.Leu779Phe) SNV Likely pathogenic 690304 rs1597789186 GRCh37: 17:42931649-42931649
GRCh38: 17:44854281-44854281
27 EFTUD2 NC_000017.11:g.44883648dup Duplication Likely pathogenic 977822 GRCh37: 17:42961015-42961016
GRCh38: 17:44883647-44883648
28 EFTUD2 NM_004247.4(EFTUD2):c.1332del (p.Ala445fs) Deletion Likely pathogenic 977825 GRCh37: 17:42941104-42941104
GRCh38: 17:44863736-44863736
29 EFTUD2 NM_004247.4(EFTUD2):c.828C>A (p.Tyr276Ter) SNV Likely pathogenic 977827 GRCh37: 17:42953343-42953343
GRCh38: 17:44875975-44875975
30 EFTUD2 NM_004247.4(EFTUD2):c.334dup (p.Thr112fs) Duplication Likely pathogenic 977870 GRCh37: 17:42962639-42962640
GRCh38: 17:44885271-44885272
31 EFTUD2 NM_004247.4(EFTUD2):c.1742del (p.Lys581fs) Deletion Likely pathogenic 812586 rs1597795170 GRCh37: 17:42937391-42937391
GRCh38: 17:44860023-44860023
32 EFTUD2 NM_004247.4(EFTUD2):c.2551del (p.Ala851fs) Deletion Likely pathogenic 488388 rs1555564126 GRCh37: 17:42930674-42930674
GRCh38: 17:44853306-44853306
33 EFTUD2 NM_004247.4(EFTUD2):c.2045+2T>G SNV Likely pathogenic 216924 rs863224868 GRCh37: 17:42934441-42934441
GRCh38: 17:44857073-44857073
34 EFTUD2 NM_004247.4(EFTUD2):c.2438G>A (p.Arg813Lys) SNV Uncertain significance 560998 rs1567728359 GRCh37: 17:42930913-42930913
GRCh38: 17:44853545-44853545
35 EFTUD2 NM_004247.4(EFTUD2):c.1957A>C (p.Ile653Leu) SNV Uncertain significance 983030 GRCh37: 17:42936453-42936453
GRCh38: 17:44859085-44859085
36 EFTUD2 NM_004247.4(EFTUD2):c.1425G>C (p.Met475Ile) SNV Uncertain significance 983101 GRCh37: 17:42940263-42940263
GRCh38: 17:44862895-44862895
37 EFTUD2 NM_004247.4(EFTUD2):c.294A>T (p.Lys98Asn) SNV Uncertain significance 931923 GRCh37: 17:42962680-42962680
GRCh38: 17:44885312-44885312
38 EFTUD2 NM_004247.4(EFTUD2):c.1861-9_1861-7del Deletion Uncertain significance 930897 GRCh37: 17:42936556-42936558
GRCh38: 17:44859188-44859190
39 EFTUD2 NM_004247.4(EFTUD2):c.994+6C>T SNV Benign 128974 rs11654183 GRCh37: 17:42949808-42949808
GRCh38: 17:44872440-44872440
40 EFTUD2 NM_004247.4(EFTUD2):c.762T>C (p.Thr254=) SNV Benign 128973 rs2289674 GRCh37: 17:42953409-42953409
GRCh38: 17:44876041-44876041
41 EFTUD2 NM_004247.4(EFTUD2):c.426+8G>A SNV Benign 128972 rs2289677 GRCh37: 17:42961009-42961009
GRCh38: 17:44883641-44883641

UniProtKB/Swiss-Prot genetic disease variations for Mandibulofacial Dysostosis, Guion-Almeida Type:

72
# Symbol AA change Variation ID SNP ID
1 EFTUD2 p.Arg262Trp VAR_067580 rs387906877
2 EFTUD2 p.Cys476Arg VAR_067581
3 EFTUD2 p.Leu637Arg VAR_067582 rs387906879

Expression for Mandibulofacial Dysostosis, Guion-Almeida Type

Search GEO for disease gene expression data for Mandibulofacial Dysostosis, Guion-Almeida Type.

Pathways for Mandibulofacial Dysostosis, Guion-Almeida Type

Pathways related to Mandibulofacial Dysostosis, Guion-Almeida Type according to KEGG:

36
# Name Kegg Source Accession
1 Spliceosome hsa03040

Pathways related to Mandibulofacial Dysostosis, Guion-Almeida Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.4 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8
2
Show member pathways
12.7 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8
3 10.95 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8

GO Terms for Mandibulofacial Dysostosis, Guion-Almeida Type

Cellular components related to Mandibulofacial Dysostosis, Guion-Almeida Type according to GeneCards Suite gene sharing:

(show all 13)
# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 10.29 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8
2 nucleoplasm GO:0005654 10.25 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8
3 nuclear speck GO:0016607 9.91 SNRNP40 PRPF8 PRPF6 PRPF4 PRPF3 EIF4A3
4 catalytic step 2 spliceosome GO:0071013 9.87 SNRPB SNRNP40 SNRNP200 PRPF8 PRPF6 EIF4A3
5 U5 snRNP GO:0005682 9.8 TXNL4A SNRPB SNRNP40 SNRNP200 PRPF8 PRPF6
6 U4/U6 x U5 tri-snRNP complex GO:0046540 9.76 TXNL4A SNRPB SNRNP200 PRPF8 PRPF6 PRPF4
7 U2-type catalytic step 2 spliceosome GO:0071007 9.71 SNRPB SNRNP40 PRPF8 EFTUD2
8 Cajal body GO:0015030 9.67 PRPF4 PRPF3 EFTUD2
9 U2-type catalytic step 1 spliceosome GO:0071006 9.63 SNRNP200 PRPF8 EIF4A3
10 U2-type precatalytic spliceosome GO:0071005 9.61 TXNL4A SNRPB SNRNP200 SF3B4 PRPF8 PRPF6
11 U12-type spliceosomal complex GO:0005689 9.52 SNRPB SF3B4
12 small nuclear ribonucleoprotein complex GO:0030532 9.51 SNRPB PRPF8
13 spliceosomal complex GO:0005681 9.44 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8

Biological processes related to Mandibulofacial Dysostosis, Guion-Almeida Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA splicing, via spliceosome GO:0000398 9.93 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8
2 RNA splicing, via transesterification reactions GO:0000375 9.8 TXNL4A SNRNP40 SF3B4 PRPF8 PRPF6 PRPF4
3 RNA splicing GO:0008380 9.77 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8
4 spliceosomal tri-snRNP complex assembly GO:0000244 9.72 RNU4ATAC PRPF8 PRPF6 PRPF3 AAR2
5 mRNA processing GO:0006397 9.44 TXNL4A SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8
6 spliceosomal complex assembly GO:0000245 9.37 TXNL4A PRPF6

Molecular functions related to Mandibulofacial Dysostosis, Guion-Almeida Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA binding GO:0003723 9.32 SNRPB SNRNP40 SNRNP200 SF3B4 PRPF8 PRPF6
2 ribonucleoprotein complex binding GO:0043021 9.26 PRPF6 EIF4A3
3 U6 snRNA binding GO:0017070 9.16 PRPF8 PRPF4
4 U5 snRNA binding GO:0030623 8.96 PRPF8 EFTUD2

Sources for Mandibulofacial Dysostosis, Guion-Almeida Type

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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