AFD1
MCID: ACR058
MIFTS: 53

Acrofacial Dysostosis 1, Nager Type (AFD1)

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

Aliases & Classifications for Acrofacial Dysostosis 1, Nager Type

MalaCards integrated aliases for Acrofacial Dysostosis 1, Nager Type:

Name: Acrofacial Dysostosis 1, Nager Type 56 12 52 25 73 13
Nager Syndrome 56 12 52 25 58 73 29 6 71
Nager Acrofacial Dysostosis 56 12 52 25 58 73 15
Preaxial Acrofacial Dysostosis 12 52 25
Afd1 56 25 73
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 56 52
Nager Acrofacial Dysostosis Syndrome 52 25
Afd, Nager Type 56 52
Nafd 25 58
Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies 73
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 58
Split Hand Deformity-Mandibulofacial Dysostosis 52
Preaxial Mandibulofacial Dysostosis 25
Preaxial Manibulofacial Dysostosis 12
Acrofacial Dysostosis, Nager Type 74
Preaxial Acrodysostosis 58
Afd Nager Type 73
Afd 12

Characteristics:

Orphanet epidemiological data:

58
nager syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
most cases are sporadic


HPO:

31
acrofacial dysostosis 1, nager type:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:

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


Summaries for Acrofacial Dysostosis 1, Nager Type

Genetics Home Reference : 25 Nager syndrome is a rare condition that mainly affects the development of the face, hands, and arms. The severity of this disorder varies among affected individuals. Children with Nager syndrome are born with underdeveloped cheek bones (malar hypoplasia) and a very small lower jaw (micrognathia). They often have an opening in the roof of the mouth called a cleft palate. These abnormalities frequently cause feeding problems in infants with Nager syndrome. The airway is usually partially blocked due to the micrognathia, which can lead to life-threatening breathing problems. People with Nager syndrome often have eyes that slant downward (downslanting palpebral fissures), no eyelashes, and a notch in the lower eyelids called an eyelid coloboma. Many affected individuals have small or unusually formed ears, and about 60 percent have hearing loss caused by defects in the middle ear (conductive hearing loss). Nager syndrome does not affect a person's intelligence, although speech development may be delayed due to hearing impairment. Individuals with Nager syndrome have bone abnormalities in their hands and arms. The most common abnormality is malformed or absent thumbs. Affected individuals may also have fingers that are unusually curved (clinodactyly) or fused together (syndactyly). Their forearms may be shortened due to the partial or complete absence of a bone called the radius. People with Nager syndrome sometimes have difficulty fully extending their elbows. This condition can also cause bone abnormalities in the legs and feet. Less commonly, affected individuals have abnormalities of the heart, kidneys, genitalia, and urinary tract.

MalaCards based summary : Acrofacial Dysostosis 1, Nager Type, also known as nager syndrome, is related to dysostosis and treacher collins syndrome 1. An important gene associated with Acrofacial Dysostosis 1, Nager Type is SF3B4 (Splicing Factor 3b Subunit 4), and among its related pathways/superpathways is mRNA Splicing - Minor Pathway. The drugs Acetylcysteine and Cysteine have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and kidney, and related phenotypes are hearing impairment and skeletal dysplasia

Disease Ontology : 12 An acrofacial dysostosis characterized by underdeveloped cheek bones, very small lower jaw, cleft palate, defects in the middle ear, absent eyelashes, and a notch in the lower eyelids called a coloboma, in children.

NIH Rare Diseases : 52 Nager acrofacial dysostosis is a genetic disorder that affects the limbs and face. The signs and symptoms of Nager acrofacial dysostosis vary among affected individuals, even among those in the same family. Treatment is tailored to the individual based upon their specific needs. This condition is caused by mutations in the SF3B4 gene . While most cases are sporadic (occurring in families with no prior history of the disorder), autosomal dominant and autosomal recessive inheritance have been reported.

OMIM : 56 Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs), which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of Nager syndrome include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hypoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported. The presence of anterior upper-limb defects and the typical lack of lower-limb involvement distinguishes Nager syndrome from Miller syndrome (263750), another rare AFD; however, distinguishing Nager syndrome from other AFDs, including Miller syndrome, can be challenging (summary by Bernier et al., 2012). (154400)

UniProtKB/Swiss-Prot : 73 Acrofacial dysostosis 1, Nager type: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and the limbs. The major facial features of AFD1 include downslanted palpebral fissures, midface retrusion, and micrognathia, the latter of which often requires the placement of a tracheostomy in early childhood. Limb defects typically involve the anterior (radial) elements of the upper limbs and manifest as small or absent thumbs, triphalangeal thumbs, radial hyoplasia or aplasia, and radioulnar synostosis. Phocomelia of the upper limbs and, occasionally, lower-limb defects have also been reported.

Wikipedia : 74 Nager acrofacial dysostosis, also known as Nager syndrome, is a genetic disorder which displays several... more...

Related Diseases for Acrofacial Dysostosis 1, Nager Type

Diseases related to Acrofacial Dysostosis 1, Nager Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 58)
# Related Disease Score Top Affiliating Genes
1 dysostosis 32.3 SF3B4 EFTUD2 AFD1
2 treacher collins syndrome 1 30.6 TXNL4A SF3B4 POLR1D EFTUD2
3 mandibulofacial dysostosis, guion-almeida type 30.5 TXNL4A SF3B4 POLR1D EFTUD2
4 postaxial acrofacial dysostosis 30.5 SF3B4 POLR1D OR56A5 EFTUD2
5 hemifacial microsomia 30.0 POLR1D EFTUD2
6 acrofacial dysostosis 28.4 UNC13B TXNL4A SF3B4 POLR1D OR56A5 ODR4
7 acrofacial dysostosis, catania type 11.4
8 acrofacial dysostosis, palagonia type 11.4
9 cleft palate, isolated 10.5
10 tetralogy of fallot 10.5
11 hirschsprung disease 1 10.4
12 maxillofacial dysostosis 10.4
13 otitis media 10.4
14 renal hypodysplasia/aplasia 1 10.4
15 pulmonary hypoplasia, primary 10.4
16 branchiootic syndrome 1 10.4
17 polydactyly 10.4
18 macrostomia, isolated 10.4
19 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
20 fetal alcohol syndrome 10.4
21 alcohol-related birth defect 10.4
22 atrioventricular block 10.4
23 ptosis 10.4
24 sensorineural hearing loss 10.4
25 hydrocephalus 10.4
26 cholesteatoma of middle ear 10.4
27 spastic diplegia 10.4
28 respiratory failure 10.4
29 synostosis 10.4
30 heart septal defect 10.4
31 atrial heart septal defect 10.4
32 ankylosis 10.4
33 congestive heart failure 10.4
34 cleft lip 10.4
35 radioulnar synostosis 10.4
36 preaxial hallucal polydactyly 10.3
37 pierre robin syndrome 10.2
38 isolated pierre robin sequence 10.2
39 depression 10.2
40 sleep apnea 10.1
41 cleft lip/palate 10.1
42 cerebrocostomandibular syndrome 10.1 TXNL4A SF3B4 EFTUD2
43 epiphyseal dysplasia, multiple, 4 10.1 IGDCC3 FXYD1
44 breast cancer 10.0
45 diaphragmatic hernia, congenital 10.0
46 mastocytosis, cutaneous 10.0
47 acrofacial dysostosis syndrome of rodriguez 10.0
48 patent ductus arteriosus 1 10.0
49 blepharophimosis 10.0
50 microcephaly 10.0

Graphical network of the top 20 diseases related to Acrofacial Dysostosis 1, Nager Type:



Diseases related to Acrofacial Dysostosis 1, Nager Type

Symptoms & Phenotypes for Acrofacial Dysostosis 1, Nager Type

Human phenotypes related to Acrofacial Dysostosis 1, Nager Type:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000365
2 skeletal dysplasia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002652
3 delayed speech and language development 58 31 hallmark (90%) Very frequent (99-80%) HP:0000750
4 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
5 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
6 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
7 hypoplasia of the zygomatic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0010669
8 aplasia/hypoplasia of the thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0009601
9 joint stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0001387
10 microtia 58 31 frequent (33%) Frequent (79-30%) HP:0008551
11 abnormal nasal morphology 58 31 frequent (33%) Frequent (79-30%) HP:0005105
12 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
13 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
14 respiratory insufficiency 58 31 frequent (33%) Frequent (79-30%) HP:0002093
15 wide mouth 58 31 frequent (33%) Frequent (79-30%) HP:0000154
16 aplasia/hypoplasia of the eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0100840
17 atresia of the external auditory canal 58 31 frequent (33%) Frequent (79-30%) HP:0000413
18 lower eyelid coloboma 58 31 frequent (33%) Frequent (79-30%) HP:0000652
19 hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0002984
20 sparse lower eyelashes 58 31 frequent (33%) Frequent (79-30%) HP:0007776
21 low-set, posteriorly rotated ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000368
22 triphalangeal thumb 58 31 occasional (7.5%) Occasional (29-5%) HP:0001199
23 non-midline cleft lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0100335
24 abnormality of the lower limb 58 31 occasional (7.5%) Occasional (29-5%) HP:0002814
25 unilateral renal agenesis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000122
26 phocomelia 58 31 occasional (7.5%) Occasional (29-5%) HP:0009829
27 patent ductus arteriosus 31 occasional (7.5%) HP:0001643
28 ventricular septal defect 31 occasional (7.5%) HP:0001629
29 abnormality of cardiovascular system morphology 31 occasional (7.5%) HP:0030680
30 scoliosis 31 HP:0002650
31 hydrocephalus 31 HP:0000238
32 microcephaly 31 HP:0000252
33 short stature 31 HP:0004322
34 malformation of the heart and great vessels 58 Occasional (29-5%)
35 urticaria 31 HP:0001025
36 retrognathia 31 HP:0000278
37 low-set ears 31 HP:0000369
38 short toe 31 HP:0001831
39 talipes equinovarus 31 HP:0001762
40 conductive hearing impairment 31 HP:0000405
41 aganglionic megacolon 31 HP:0002251
42 cleft upper lip 31 HP:0000204
43 tetralogy of fallot 31 HP:0001636
44 preauricular skin tag 31 HP:0000384
45 aqueductal stenosis 31 HP:0002410
46 hip dislocation 31 HP:0002827
47 malar flattening 31 HP:0000272
48 prominent nasal bridge 31 HP:0000426
49 hallux valgus 31 HP:0001822
50 radioulnar synostosis 31 HP:0002974

Symptoms via clinical synopsis from OMIM:

56
Skeletal Spine:
scoliosis
cervical vertebral abnormalities

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate
trismus
velopharyngeal insufficiency
cleft lip
macrostomia

Head And Neck Ears:
low-set ears
posteriorly rotated ears
preauricular tags
conductive deafness
external auditory canal atresia

Skeletal Feet:
hallux valgus
toe syndactyly
broad hallux
overlapping toes
clubfeet
more
Prenatal Manifestations Delivery:
premature birth

Abdomen External Features:
gastroschisis

Respiratory Larynx:
laryngeal hypoplasia

Respiratory Airways:
hypoplasia of the epiglottis

Head And Neck Nose:
high nasal bridge

Cardiovascular Heart:
ventricular septal defect (in some patients)
tetralogy of fallot (in some patients)

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic first rib

Skin Nails Hair Skin:
urticaria pigmentosa

Neurologic Central Nervous System:
hydrocephalus
aqueductal stenosis
polymicrogyria
normal intelligence
speech delay

Growth Height:
short stature

Head And Neck Face:
retrognathia
micrognathia
midface retrusion

Skeletal Pelvis:
hip dislocation

Skeletal Limbs:
radioulnar synostosis
radial aplasia
limitation of elbow extension
short forearms
radial hypoplasia

Genitourinary Kidneys:
unilateral renal agenesis
duplicated calyx

Genitourinary Internal Genitalia Female:
bicornuate uterus

Skeletal Hands:
clinodactyly
syndactyly
triphalangeal thumbs
thumb aplasia/hypoplasia

Head And Neck Eyes:
downslanting palpebral fissures
partial-total absence of lower eyelashes
lower lid coloboma

Skeletal Skull:
hypoplastic mandible
hypoplastic zygomatic arch

Cardiovascular Vascular:
patent ductus arteriosus (in some patients)

Abdomen Gastrointestinal:
hirschsprung disease

Skin Nails Hair Hair:
partial to total absence of eyelashes

Clinical features from OMIM:

154400

GenomeRNAi Phenotypes related to Acrofacial Dysostosis 1, Nager Type according to GeneCards Suite gene sharing:

26 (show all 18)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-100 9.62 FXYD1 GRB2
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-113 9.62 GRB2
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-122 9.62 FXYD1
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-135 9.62 GRB2
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-139 9.62 AQR GRB2
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-142 9.62 GRB2
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-146 9.62 AQR
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-167 9.62 AQR
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-173 9.62 GRB2
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-180 9.62 FXYD1
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-190 9.62 FXYD1
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.62 GRB2
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-4 9.62 FXYD1
14 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.62 AQR
15 Decreased shRNA abundance (Z-score < -2) GR00366-A-49 9.62 AQR
16 Decreased shRNA abundance (Z-score < -2) GR00366-A-50 9.62 FXYD1
17 Decreased shRNA abundance (Z-score < -2) GR00366-A-52 9.62 GRB2
18 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.62 FXYD1

Drugs & Therapeutics for Acrofacial Dysostosis 1, Nager Type

Drugs for Acrofacial Dysostosis 1, Nager Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
3 Liver Extracts Phase 2
4 Respiratory System Agents Phase 2
5 Anti-Infective Agents Phase 2
6 Antioxidants Phase 2
7 Antidotes Phase 2
8 Antiviral Agents Phase 2
9 Expectorants Phase 2
10 N-monoacetylcystine Phase 2
11 Protective Agents Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Effect of N-acetyl Cysteine on Non Alcoholic Fatty Liver Disease in Obese Children Active, not recruiting NCT02117700 Phase 2
2 The Effect of Physical Activity on the Liver and the Heart's Metabolism of Fatty Acids in Obese With and Without NAFD Recruiting NCT03583437
3 Comparative Study Between Internal and External Distraction Osteogenesis in Lower Face Asymmetry Not yet recruiting NCT03540329

Search NIH Clinical Center for Acrofacial Dysostosis 1, Nager Type

Genetic Tests for Acrofacial Dysostosis 1, Nager Type

Genetic tests related to Acrofacial Dysostosis 1, Nager Type:

# Genetic test Affiliating Genes
1 Nager Syndrome 29 SF3B4

Anatomical Context for Acrofacial Dysostosis 1, Nager Type

MalaCards organs/tissues related to Acrofacial Dysostosis 1, Nager Type:

40
Bone, Eye, Kidney, Heart, Liver, Skin, Uterus

Publications for Acrofacial Dysostosis 1, Nager Type

Articles related to Acrofacial Dysostosis 1, Nager Type:

(show top 50) (show all 119)
# Title Authors PMID Year
1
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. 61 6 56
23568615 2013
2
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 6 56 61
22541558 2012
3
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 56 61
24003905 2014
4
Spontaneous expression of FRA3P in a patient with Nager syndrome. 61 56
12673663 2003
5
Deletion of 1q in a patient with acrofacial dysostosis. 56 61
10051162 1999
6
Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. 61 56
9585434 1998
7
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. 56 61
8357008 1993
8
Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance. 61 56
8500258 1993
9
Nager acrofacial dysostosis: male-to-male transmission in 2 families. 56 61
1951468 1991
10
Nager anomaly with severe facial involvement, microcephaly, and mental retardation. 56 61
2363437 1990
11
The Nager syndrome. 56 61
3321996 1987
12
Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and Wiedemann. 61 56
3425605 1987
13
Anomalies in an infant with Nager acrofacial dysostosis. 61 56
4025401 1985
14
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. 56 61
6881198 1983
15
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. 56 61
6837625 1983
16
Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany. 56
16096996 2005
17
Allele-specific late replication and fragility of the most active common fragile site, FRA3B. 56
9949202 1999
18
Nager acrofacial dysostosis. An adult male with severe neurological deficit. 56
8831135 1996
19
Nager acrofacial dysostosis. 56
8411075 1993
20
Nager acrofacial dysostosis: evidence for apparent heterogeneity. 56
3189396 1988
21
Autosomal recessive inheritance of Nager acrofacial dysostosis. 56
3367347 1988
22
The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. 56
4078872 1985
23
Nager's acrofacial dysostosis with thumb duplication: report of a case. 56
6478644 1984
24
Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family. 56
6837626 1983
25
Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. 56
7452413 1981
26
Picture of the month. Nager's syndrome (Nager's acrofacial dystosis) 56
645679 1978
27
Nager acrofacial dysostosis: report of a case. 56
874672 1977
28
[Dystrophia unguis mediana canaliformis. Familial occurrence]. 56
4459333 1974
29
CONGENITAL ANOMALIES IN THE NEWBORN INFANT, INCLUDING MINOR VARIATIONS. A STUDY OF 4,412 BABIES BY SURFACE EXAMINATION FOR ANOMALIES AND BUCCAL SMEAR FOR SEX CHROMATIN. 56
14130709 1964
30
Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome. 61
32537850 2020
31
Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse. 61
31900962 2020
32
Associated syndromes in patients with Pierre Robin Sequence. 61
31927149 2020
33
Second-trimester prenatal diagnosis of Nager syndrome with a deletion including SF3B4 detected by chromosomal microarray. 61
32185046 2020
34
SF3b4: A Versatile Player in Eukaryotic Cells. 61
32083075 2020
35
A Case of Nager Syndrome Diagnosed Before Birth. 61
31235977 2019
36
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 61
30924273 2019
37
Modified Lefort Distraction Osteogenesis for the Treatment of Nager Syndrome-Associated Midface Hypoplasia: Technique and Review. 61
29916980 2018
38
Decannulation and Airway Outcomes With Maxillomandibular Distraction in Treacher Collins and Nager Syndrome. 61
29381611 2018
39
Congenital Abnormalities of the Temporomandibular Joint. 61
29153239 2018
40
A Case Report of Absent Epiglottis in Children With Nager Syndrome: Its Impact on Swallowing. 61
27723379 2017
41
Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review. 61
28688869 2017
42
Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome. 61
28139434 2017
43
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 61
27966544 2017
44
Does canal wall down mastoidectomy benefit syndromic children with congenital aural stenosis? 61
27729133 2016
45
Use of the C-MAC® adult D blade in paediatric patients with Nager syndrome. 61
27608358 2016
46
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. 61
27622494 2016
47
Nager Syndrome with Eventration of Diaphragm: A Rare Presentation. 61
27130509 2016
48
Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome. 61
26874011 2016
49
The Craniofacial and Upper Limb Management of Nager Syndrome. 61
27171953 2016
50
Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction. 61
27144155 2016

Variations for Acrofacial Dysostosis 1, Nager Type

ClinVar genetic disease variations for Acrofacial Dysostosis 1, Nager Type:

6 (show all 42) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SF3B4 NM_005850.5(SF3B4):c.1A>G (p.Met1Val)SNV Pathogenic 31650 rs387907185 1:149899651-149899651 1:149927759-149927759
2 SF3B4 NM_005850.5(SF3B4):c.1147dup (p.His383fs)duplication Pathogenic 31651 rs387907186 1:149895561-149895562 1:149923669-149923670
3 SF3B4 NM_005850.5(SF3B4):c.1147del (p.His383fs)deletion Pathogenic 31652 rs387907186 1:149895562-149895562 1:149923670-149923670
4 SF3B4 NM_005850.5(SF3B4):c.913+1G>ASNV Pathogenic 31653 rs797045125 1:149897727-149897727 1:149925835-149925835
5 SF3B4 NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter)SNV Pathogenic 65407 rs397515324 1:149895814-149895814 1:149923922-149923922
6 SF3B4 NM_005850.5(SF3B4):c.769del (p.Ile257fs)deletion Pathogenic 208837 rs797045130 1:149897872-149897872 1:149925980-149925980
7 SF3B4 NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs)deletion Pathogenic 208827 rs797045121 1:149895451-149895457 1:149923559-149923565
8 SF3B4 NM_005850.5(SF3B4):c.1232del (p.Pro411fs)deletion Pathogenic 208828 rs797045122 1:149895477-149895477 1:149923585-149923585
9 SF3B4 NM_005850.5(SF3B4):c.1199del (p.Pro400fs)deletion Pathogenic 208829 rs797045123 1:149895510-149895510 1:149923618-149923618
10 SF3B4 NM_005850.5(SF3B4):c.1148dup (p.His383fs)duplication Pathogenic 208830 rs797045124 1:149895560-149895561 1:149923668-149923669
11 SF3B4 NM_005850.5(SF3B4):c.1060dup (p.Arg354fs)duplication Pathogenic 208831 rs782357237 1:149895759-149895760 1:149923867-149923868
12 SF3B4 NM_005850.5(SF3B4):c.864del (p.His288fs)deletion Pathogenic 208833 rs797045126 1:149897777-149897777 1:149925885-149925885
13 SF3B4 NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs)insertion Pathogenic 208834 rs797045127 1:149897804-149897805 1:149925912-149925913
14 SF3B4 NM_005850.5(SF3B4):c.827dup (p.Ser277fs)duplication Pathogenic 208835 rs797045128 1:149897813-149897814 1:149925921-149925922
15 SF3B4 NM_005850.5(SF3B4):c.796dup (p.Met266fs)duplication Pathogenic 208836 rs797045129 1:149897844-149897845 1:149925952-149925953
16 SF3B4 NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs)duplication Pathogenic 208838 rs797045131 1:149898309-149898310 1:149926417-149926418
17 SF3B4 NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter)SNV Pathogenic 208839 rs797045132 1:149898349-149898349 1:149926457-149926457
18 SF3B4 NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter)SNV Pathogenic 208840 rs797045133 1:149898522-149898522 1:149926630-149926630
19 SF3B4 NM_005850.5(SF3B4):c.88del (p.Trp30fs)deletion Pathogenic 208841 rs797045134 1:149899133-149899133 1:149927241-149927241
20 SF3B4 NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs)deletion Pathogenic 212156 rs797045954 1:149895460-149895479 1:149923568-149923587
21 SF3B4 NM_005850.5(SF3B4):c.731_743del (p.Pro244fs)deletion Pathogenic 212159 rs797045957 1:149897898-149897910 1:149926006-149926018
22 SF3B4 NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter)SNV Pathogenic 212157 rs797045955 1:149898781-149898781 1:149926889-149926889
23 SF3B4 NM_005850.5(SF3B4):c.43_44GT[1] (p.Tyr16fs)short repeat Pathogenic 212158 rs797045956 1:149899175-149899176 1:149927283-149927284
24 SF3B4 NM_005850.5(SF3B4):c.600G>A (p.Pro200=)SNV Uncertain significance 292479 rs148753561 1:149898374-149898374 1:149926482-149926482
25 SF3B4 NM_005850.5(SF3B4):c.1110G>A (p.Pro370=)SNV Uncertain significance 292474 rs782435530 1:149895599-149895599 1:149923707-149923707
26 SF3B4 NM_005850.5(SF3B4):c.707-8C>ASNV Uncertain significance 292478 rs371485646 1:149897942-149897942 1:149926050-149926050
27 SF3B4 NM_005850.5(SF3B4):c.148A>G (p.Thr50Ala)SNV Uncertain significance 292482 rs886045256 1:149899073-149899073 1:149927181-149927181
28 SF3B4 NM_005850.4(SF3B4):c.-255A>CSNV Uncertain significance 292489 rs28362636 1:149899906-149899906 1:149928014-149928014
29 SF3B4 NM_005850.4(SF3B4):c.-263dupAduplication Uncertain significance 292490 rs762430957 1:149899913-149899914 1:149928021-149928022
30 SF3B4 NM_005850.5(SF3B4):c.707-8C>TSNV Likely benign 292477 rs371485646 1:149897942-149897942 1:149926050-149926050
31 SF3B4 NM_005850.5(SF3B4):c.-25G>ASNV Likely benign 292484 rs199754113 1:149899676-149899676 1:149927784-149927784
32 SF3B4 NM_005850.5(SF3B4):c.-32C>TSNV Likely benign 292485 rs587675943 1:149899683-149899683 1:149927791-149927791
33 SF3B4 NM_005850.4(SF3B4):c.-78T>CSNV Likely benign 292486 rs373005050 1:149899729-149899729 1:149927837-149927837
34 SF3B4 NM_005850.5(SF3B4):c.543C>T (p.Asp181=)SNV Likely benign 292480 rs41265150 1:149898431-149898431 1:149926539-149926539
35 SF3B4 NM_005850.5(SF3B4):c.519C>T (p.Thr173=)SNV Likely benign 292481 rs143105666 1:149898455-149898455 1:149926563-149926563
36 SF3B4 NM_005850.5(SF3B4):c.-1C>TSNV Likely benign 292483 rs587718470 1:149899652-149899652 1:149927760-149927760
37 SF3B4 NM_005850.5(SF3B4):c.735C>T (p.Pro245=)SNV Benign/Likely benign 292476 rs113949235 1:149897906-149897906 1:149926014-149926014
38 SF3B4 NM_005850.5(SF3B4):c.682T>C (p.Leu228=)SNV Benign/Likely benign 130291 rs115070660 1:149898292-149898292 1:149926400-149926400
39 SF3B4 NM_005850.4(SF3B4):c.-116C>TSNV Benign 292487 rs60631776 1:149899767-149899767 1:149927875-149927875
40 SF3B4 NM_005850.5(SF3B4):c.978C>A (p.Pro326=)SNV Benign 292475 rs58383987 1:149895842-149895842 1:149923950-149923950
41 SF3B4 NM_005850.4(SF3B4):c.-234T>CSNV Benign 292488 rs72692813 1:149899885-149899885 1:149927993-149927993
42 SF3B4 NM_005850.4(SF3B4):c.-297C>TSNV Benign 292491 rs17643644 1:149899948-149899948 1:149928056-149928056

Expression for Acrofacial Dysostosis 1, Nager Type

Search GEO for disease gene expression data for Acrofacial Dysostosis 1, Nager Type.

Pathways for Acrofacial Dysostosis 1, Nager Type

Pathways related to Acrofacial Dysostosis 1, Nager Type according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.52 TXNL4A SF3B4 EFTUD2

GO Terms for Acrofacial Dysostosis 1, Nager Type

Cellular components related to Acrofacial Dysostosis 1, Nager Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 U2-type catalytic step 2 spliceosome GO:0071007 9.26 EFTUD2 AQR
2 calyx of Held GO:0044305 9.16 UNC13B NCS1
3 U2-type precatalytic spliceosome GO:0071005 9.13 TXNL4A SF3B4 EFTUD2
4 spliceosomal complex GO:0005681 8.92 TXNL4A SF3B4 EFTUD2 AQR

Biological processes related to Acrofacial Dysostosis 1, Nager Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.62 TXNL4A SF3B4 EFTUD2 AQR
2 synaptic vesicle exocytosis GO:0016079 9.37 UNC13B CADPS
3 positive regulation of exocytosis GO:0045921 9.26 NCS1 CADPS
4 RNA splicing GO:0008380 9.26 TXNL4A SF3B4 EFTUD2 AQR
5 RNA splicing, via transesterification reactions GO:0000375 9.16 TXNL4A SF3B4
6 mRNA splicing, via spliceosome GO:0000398 8.92 TXNL4A SF3B4 EFTUD2 AQR

Molecular functions related to Acrofacial Dysostosis 1, Nager Type according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfuric ester hydrolase activity GO:0008484 8.96 ARSL ARSJ
2 arylsulfatase activity GO:0004065 8.62 ARSL ARSJ

Sources for Acrofacial Dysostosis 1, Nager Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....