AFD1
MCID: ACR058
MIFTS: 52

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 57 12 53 25 74 13
Nager Syndrome 57 12 53 25 59 74 29 6 72
Nager Acrofacial Dysostosis 57 12 53 25 59 74 15
Preaxial Acrofacial Dysostosis 12 53 25
Afd1 57 25 74
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 57 53
Nager Acrofacial Dysostosis Syndrome 53 25
Afd, Nager Type 57 53
Nafd 25 59
Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies 74
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 59
Split Hand Deformity-Mandibulofacial Dysostosis 53
Preaxial Mandibulofacial Dysostosis 25
Preaxial Manibulofacial Dysostosis 12
Acrofacial Dysostosis, Nager Type 75
Preaxial Acrodysostosis 59
Afd Nager Type 74
Afd 12

Characteristics:

Orphanet epidemiological data:

59
nager syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
variable severity
most cases are sporadic


HPO:

32
acrofacial dysostosis 1, nager type:
Inheritance autosomal dominant inheritance
Onset and clinical course variable expressivity


Classifications:



External Ids:

Disease Ontology 12 DOID:5768
OMIM 57 154400
MeSH 44 D008342
NCIt 50 C35795
MESH via Orphanet 45 C538184
ICD10 via Orphanet 34 Q75.4
UMLS via Orphanet 73 C0265245
Orphanet 59 ORPHA245
MedGen 42 C0265245
UMLS 72 C0265245 C1332140

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 acrofacial dysostosis and dysostosis. 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 Liver Extracts 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 : 53 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 : 57 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 : 74 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 : 75 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 63)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 31.3 TXNL4A SF3B4 DHODH
2 dysostosis 31.2 SF3B4 EFTUD2 DHODH
3 mandibulofacial dysostosis, guion-almeida type 30.1 TXNL4A SF3B4 EFTUD2
4 treacher collins syndrome 1 29.8 TXNL4A SF3B4 EFTUD2 DHODH
5 acrofacial dysostosis, catania type 11.4
6 acrofacial dysostosis, palagonia type 11.4
7 cleft palate, isolated 10.5
8 tetralogy of fallot 10.5
9 hirschsprung disease 1 10.4
10 maxillofacial dysostosis 10.4
11 otitis media 10.4
12 radioulnar synostosis 10.4
13 renal hypodysplasia/aplasia 1 10.4
14 postaxial acrofacial dysostosis 10.4
15 pulmonary hypoplasia, primary 10.4
16 mullerian duct aplasia, unilateral renal agenesis, and cervicothoracic somite anomalies 10.4
17 branchiootic syndrome 1 10.4
18 polydactyly 10.4
19 macrostomia, isolated 10.4
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.4
21 fetal alcohol syndrome 10.4
22 alcohol-related birth defect 10.4
23 atrioventricular block 10.4
24 ptosis 10.4
25 sensorineural hearing loss 10.4
26 hydrocephalus 10.4
27 cholesteatoma of middle ear 10.4
28 spastic diplegia 10.4
29 respiratory failure 10.4
30 synostosis 10.4
31 heart septal defect 10.4
32 atrial heart septal defect 10.4
33 ankylosis 10.4
34 congestive heart failure 10.4
35 hard palate cancer 10.4
36 cleft lip 10.4
37 craniofacial microsomia 10.4
38 congenital hydrocephalus 10.4
39 congenital radioulnar synostosis 10.4
40 murcs association 10.4
41 preaxial hallucal polydactyly 10.3
42 pierre robin syndrome 10.2
43 isolated pierre robin sequence 10.2
44 depression 10.2
45 sleep apnea 10.1
46 cleft lip/palate 10.1
47 breast cancer 9.9
48 diaphragmatic hernia, congenital 9.9
49 mastocytosis, cutaneous 9.9
50 hemifacial microsomia 9.9

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:

59 32 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
2 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
3 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
4 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
5 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
6 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
7 aplasia/hypoplasia of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009601
8 hypoplasia of the zygomatic bone 32 hallmark (90%) HP:0010669
9 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
10 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
11 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
12 microtia 59 32 frequent (33%) Frequent (79-30%) HP:0008551
13 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
14 abnormal nasal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005105
15 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
16 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
17 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
18 lower eyelid coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000652
19 hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0002984
20 sparse lower eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0007776
21 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
22 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
23 triphalangeal thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001199
24 abnormality of the lower limb 59 32 occasional (7.5%) Occasional (29-5%) HP:0002814
25 unilateral renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000122
26 phocomelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0009829
27 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
28 ventricular septal defect 32 occasional (7.5%) HP:0001629
29 abnormality of cardiovascular system morphology 32 occasional (7.5%) HP:0030680
30 malar flattening 32 HP:0000272
31 low-set ears 32 HP:0000369
32 clinodactyly 32 HP:0030084
33 hydrocephalus 32 HP:0000238
34 aqueductal stenosis 32 HP:0002410
35 scoliosis 32 HP:0002650
36 microcephaly 32 HP:0000252
37 short stature 32 HP:0004322
38 malformation of the heart and great vessels 59 Occasional (29-5%)
39 retrognathia 32 HP:0000278
40 urticaria 32 HP:0001025
41 short toe 32 HP:0001831
42 talipes equinovarus 32 HP:0001762
43 prominent nasal bridge 32 HP:0000426
44 aganglionic megacolon 32 HP:0002251
45 hip dislocation 32 HP:0002827
46 cleft upper lip 32 HP:0000204
47 tetralogy of fallot 32 HP:0001636
48 preauricular skin tag 32 HP:0000384
49 cheekbone underdevelopment 59 Very frequent (99-80%)
50 conductive hearing impairment 32 HP:0000405

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
posteriorly rotated ears
preauricular tags
conductive deafness
external auditory canal atresia

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

Head And Neck Head:
microcephaly

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

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

Abdomen External Features:
gastroschisis

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

Skeletal Hands:
clinodactyly
syndactyly
triphalangeal thumbs
thumb aplasia/hypoplasia

Skeletal Spine:
scoliosis
cervical vertebral abnormalities

Growth Height:
short stature

Head And Neck Face:
micrognathia
retrognathia
midface retrusion

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

Genitourinary Internal Genitalia Female:
bicornuate uterus

Respiratory Larynx:
laryngeal 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
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00236-A-3 9.81 NCS1 SF3B4 ZNF462
2 Decreased viability in esophageal squamous lineage GR00235-A 9.43 DHODH DMAP1 EFTUD2 PRRX2 SF3B4 TXNL4A
3 Dynamic nuclei (hole, folded or small irregular) GR00257-A-1 9.1 DMAP1 EFTUD2 PRRX2 SLC12A6 TXNL4A ZNF462

MGI Mouse Phenotypes related to Acrofacial Dysostosis 1, Nager Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 vision/eye MP:0005391 9.02 NCS1 OTX1 PRRX2 SLC12A6 ZNF462

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 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
2 Liver Extracts Phase 2
3 N-monoacetylcystine Phase 2
4 Respiratory System Agents Phase 2
5 Antidotes Phase 2
6 Free Radical Scavengers Phase 2
7 Antioxidants Phase 2
8 Anti-Infective Agents Phase 2
9 Protective Agents Phase 2
10 cysteine Phase 2
11 Expectorants Phase 2
12 Antiviral 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 Unknown status 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:

41
Bone, Eye, Kidney, Heart, Liver, Uterus, Skin

Publications for Acrofacial Dysostosis 1, Nager Type

Articles related to Acrofacial Dysostosis 1, Nager Type:

(show top 50) (show all 114)
# Title Authors PMID Year
1
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. 38 8 71
23568615 2013
2
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. 38 8 71
22541558 2012
3
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 38 8
24003905 2014
4
Spontaneous expression of FRA3P in a patient with Nager syndrome. 38 8
12673663 2003
5
Deletion of 1q in a patient with acrofacial dysostosis. 38 8
10051162 1999
6
Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. 38 8
9585434 1998
7
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. 38 8
8357008 1993
8
Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance. 38 8
8500258 1993
9
Nager acrofacial dysostosis: male-to-male transmission in 2 families. 38 8
1951468 1991
10
Nager anomaly with severe facial involvement, microcephaly, and mental retardation. 38 8
2363437 1990
11
The Nager syndrome. 38 8
3321996 1987
12
Nager "syndrome" versus "anomaly" and its nosology with the postaxial acrofacial dysostosis syndrome of Genée and Wiedemann. 38 8
3425605 1987
13
Anomalies in an infant with Nager acrofacial dysostosis. 38 8
4025401 1985
14
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. 38 8
6881198 1983
15
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. 38 8
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. 8
16096996 2005
17
Allele-specific late replication and fragility of the most active common fragile site, FRA3B. 8
9949202 1999
18
Nager acrofacial dysostosis. An adult male with severe neurological deficit. 8
8831135 1996
19
Nager acrofacial dysostosis. 8
8411075 1993
20
Nager acrofacial dysostosis: evidence for apparent heterogeneity. 8
3189396 1988
21
Autosomal recessive inheritance of Nager acrofacial dysostosis. 8
3367347 1988
22
The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. 8
4078872 1985
23
Nager's acrofacial dysostosis with thumb duplication: report of a case. 8
6478644 1984
24
Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family. 8
6837626 1983
25
Recurrence of the postaxial acrofacial dysostosis syndrome in a sibship: implications for genetic counseling. 8
7452413 1981
26
Picture of the month. Nager's syndrome (Nager's acrofacial dystosis) 8
645679 1978
27
Nager acrofacial dysostosis: report of a case. 8
874672 1977
28
[Dystrophia unguis mediana canaliformis. Familial occurrence]. 8
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. 8
14130709 1964
30
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 38
30924273 2019
31
A Case of Nager Syndrome Diagnosed Before Birth. 38
31235977 2019
32
Modified Lefort Distraction Osteogenesis for the Treatment of Nager Syndrome-Associated Midface Hypoplasia: Technique and Review. 38
29916980 2018
33
Decannulation and Airway Outcomes With Maxillomandibular Distraction in Treacher Collins and Nager Syndrome. 38
29381611 2018
34
Congenital Abnormalities of the Temporomandibular Joint. 38
29153239 2018
35
A Case Report of Absent Epiglottis in Children With Nager Syndrome: Its Impact on Swallowing. 38
27723379 2017
36
Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review. 38
28688869 2017
37
Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome. 38
28139434 2017
38
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 38
27966544 2017
39
Does canal wall down mastoidectomy benefit syndromic children with congenital aural stenosis? 38
27729133 2016
40
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. 38
27622494 2016
41
Use of the C-MAC® adult D blade in paediatric patients with Nager syndrome. 38
27608358 2016
42
Nager Syndrome with Eventration of Diaphragm: A Rare Presentation. 38
27130509 2016
43
Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome. 38
26874011 2016
44
The Craniofacial and Upper Limb Management of Nager Syndrome. 38
27171953 2016
45
Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction. 38
27144155 2016
46
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray. 38
26679067 2016
47
A review of craniofacial disorders caused by spliceosomal defects. 38
25865758 2015
48
Resolving clinical diagnoses for syndromic cleft lip and/or palate phenotypes using whole-exome sequencing. 38
25441681 2015
49
[Nager syndrome associated with tetralogy of Fallot: A frequent association?]. 38
26228803 2015
50
Orbital soft tissue surgery for patients with Treacher-Collins or Nager syndrome. A new surgical approach with early correction of soft tissue: prospective study. 38
25799958 2015

Variations for Acrofacial Dysostosis 1, Nager Type

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

6 (show all 42)
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 SF3B4 NM_005850.5(SF3B4): c.1252_1258del (p.Leu418fs) deletion Pathogenic rs797045121 1:149895451-149895457 1:149923559-149923565
2 SF3B4 NM_005850.5(SF3B4): c.1232del (p.Pro411fs) deletion Pathogenic rs797045122 1:149895477-149895477 1:149923585-149923585
3 SF3B4 NM_005850.5(SF3B4): c.1199del (p.Pro400fs) deletion Pathogenic rs797045123 1:149895510-149895510 1:149923618-149923618
4 SF3B4 NM_005850.5(SF3B4): c.1148dup (p.His383fs) duplication Pathogenic rs797045124 1:149895561-149895561 1:149923669-149923669
5 SF3B4 NM_005850.5(SF3B4): c.1060dup (p.Arg354fs) duplication Pathogenic rs782357237 1:149895760-149895760 1:149923868-149923868
6 SF3B4 NM_005850.5(SF3B4): c.864del (p.His288fs) deletion Pathogenic rs797045126 1:149897777-149897777 1:149925885-149925885
7 SF3B4 NM_005850.5(SF3B4): c.836_837insGGGTATG (p.Thr280fs) insertion Pathogenic rs797045127 1:149897804-149897805 1:149925912-149925913
8 SF3B4 NM_005850.5(SF3B4): c.827dup (p.Ser277fs) duplication Pathogenic rs797045128 1:149897814-149897814 1:149925922-149925922
9 SF3B4 NM_005850.5(SF3B4): c.796dup (p.Met266fs) duplication Pathogenic rs797045129 1:149897845-149897845 1:149925953-149925953
10 SF3B4 NM_005850.5(SF3B4): c.769del (p.Ile257fs) deletion Pathogenic rs797045130 1:149897872-149897872 1:149925980-149925980
11 SF3B4 NM_005850.5(SF3B4): c.661_664dup (p.Asn222fs) duplication Pathogenic rs797045131 1:149898310-149898313 1:149926418-149926421
12 SF3B4 NM_005850.5(SF3B4): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs797045132 1:149898349-149898349 1:149926457-149926457
13 SF3B4 NM_005850.5(SF3B4): c.452C> A (p.Ser151Ter) single nucleotide variant Pathogenic rs797045133 1:149898522-149898522 1:149926630-149926630
14 SF3B4 NM_005850.5(SF3B4): c.88del (p.Trp30fs) deletion Pathogenic rs797045134 1:149899133-149899133 1:149927241-149927241
15 SF3B4 NM_005850.5(SF3B4): c.1230_1249del (p.Pro411fs) deletion Pathogenic rs797045954 1:149895460-149895479 1:149923568-149923587
16 SF3B4 NM_005850.5(SF3B4): c.731_743del (p.Pro244fs) deletion Pathogenic rs797045957 1:149897898-149897910 1:149926006-149926018
17 SF3B4 NM_005850.5(SF3B4): c.193G> T (p.Glu65Ter) single nucleotide variant Pathogenic rs797045955 1:149898781-149898781 1:149926889-149926889
18 SF3B4 NM_005850.5(SF3B4): c.43_44GT[1] (p.Tyr16fs) short repeat Pathogenic rs797045956 1:149899175-149899176 1:149927283-149927284
19 SF3B4 NM_005850.5(SF3B4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387907185 1:149899651-149899651 1:149927759-149927759
20 SF3B4 NM_005850.5(SF3B4): c.1147dup (p.His383fs) duplication Pathogenic rs387907186 1:149895562-149895562 1:149923670-149923670
21 SF3B4 NM_005850.5(SF3B4): c.1147del (p.His383fs) deletion Pathogenic rs387907186 1:149895562-149895562 1:149923670-149923670
22 SF3B4 NM_005850.5(SF3B4): c.913+1G> A single nucleotide variant Pathogenic rs797045125 1:149897727-149897727 1:149925835-149925835
23 SF3B4 NM_005850.5(SF3B4): c.1006C> T (p.Arg336Ter) single nucleotide variant Pathogenic rs397515324 1:149895814-149895814 1:149923922-149923922
24 SF3B4 NM_005850.5(SF3B4): c.600G> A (p.Pro200=) single nucleotide variant Uncertain significance rs148753561 1:149898374-149898374 1:149926482-149926482
25 SF3B4 NM_005850.5(SF3B4): c.1110G> A (p.Pro370=) single nucleotide variant Uncertain significance rs782435530 1:149895599-149895599 1:149923707-149923707
26 SF3B4 NM_005850.5(SF3B4): c.707-8C> A single nucleotide variant Uncertain significance rs371485646 1:149897942-149897942 1:149926050-149926050
27 SF3B4 NM_005850.4(SF3B4): c.-263dupA duplication Uncertain significance rs762430957 1:149899914-149899914 1:149928022-149928022
28 SF3B4 NM_005850.5(SF3B4): c.148A> G (p.Thr50Ala) single nucleotide variant Uncertain significance rs886045256 1:149899073-149899073 1:149927181-149927181
29 SF3B4 NM_005850.4(SF3B4): c.-255A> C single nucleotide variant Uncertain significance rs28362636 1:149899906-149899906 1:149928014-149928014
30 SF3B4 NM_005850.5(SF3B4): c.707-8C> T single nucleotide variant Likely benign rs371485646 1:149897942-149897942 1:149926050-149926050
31 SF3B4 NM_005850.5(SF3B4): c.-25G> A single nucleotide variant Likely benign rs199754113 1:149899676-149899676 1:149927784-149927784
32 SF3B4 NM_005850.5(SF3B4): c.-32C> T single nucleotide variant Likely benign rs587675943 1:149899683-149899683 1:149927791-149927791
33 SF3B4 NM_005850.5(SF3B4): c.735C> T (p.Pro245=) single nucleotide variant Likely benign rs113949235 1:149897906-149897906 1:149926014-149926014
34 SF3B4 NM_005850.4(SF3B4): c.-78T> C single nucleotide variant Likely benign rs373005050 1:149899729-149899729 1:149927837-149927837
35 SF3B4 NM_005850.5(SF3B4): c.543C> T (p.Asp181=) single nucleotide variant Likely benign rs41265150 1:149898431-149898431 1:149926539-149926539
36 SF3B4 NM_005850.5(SF3B4): c.519C> T (p.Thr173=) single nucleotide variant Likely benign rs143105666 1:149898455-149898455 1:149926563-149926563
37 SF3B4 NM_005850.5(SF3B4): c.-1C> T single nucleotide variant Likely benign rs587718470 1:149899652-149899652 1:149927760-149927760
38 SF3B4 NM_005850.5(SF3B4): c.682T> C (p.Leu228=) single nucleotide variant Benign/Likely benign rs115070660 1:149898292-149898292 1:149926400-149926400
39 SF3B4 NM_005850.4(SF3B4): c.-116C> T single nucleotide variant Benign rs60631776 1:149899767-149899767 1:149927875-149927875
40 SF3B4 NM_005850.5(SF3B4): c.978C> A (p.Pro326=) single nucleotide variant Benign rs58383987 1:149895842-149895842 1:149923950-149923950
41 SF3B4 NM_005850.4(SF3B4): c.-234T> C single nucleotide variant Benign rs72692813 1:149899885-149899885 1:149927993-149927993
42 SF3B4 NM_005850.4(SF3B4): c.-297C> T single nucleotide variant Benign 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 U4/U6 x U5 tri-snRNP complex GO:0046540 8.96 TXNL4A EFTUD2
2 spliceosomal complex GO:0005681 8.8 TXNL4A SF3B4 EFTUD2

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 9.43 TXNL4A SF3B4 EFTUD2
2 RNA splicing GO:0008380 9.33 TXNL4A SF3B4 EFTUD2
3 mRNA splicing, via spliceosome GO:0000398 9.13 TXNL4A SF3B4 EFTUD2
4 RNA splicing, via transesterification reactions GO:0000375 8.62 TXNL4A SF3B4

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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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