AFD1
MCID: ACR058
MIFTS: 48

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 75 13
Nager Syndrome 57 12 53 25 59 75 29 6 73
Nager Acrofacial Dysostosis 57 12 53 25 59 75 15
Preaxial Acrofacial Dysostosis 12 53 25
Afd1 57 25 75
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 75
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 76
Preaxial Acrodysostosis 59
Afd Nager Type 75
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:
Onset and clinical course variable expressivity
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrofacial Dysostosis 1, Nager Type

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)

MalaCards based summary : Acrofacial Dysostosis 1, Nager Type, also known as nager syndrome, is related to dysostosis and acrofacial 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. Affiliated tissues include bone, eye and kidney, and related phenotypes are ptosis and respiratory insufficiency

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.

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.

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.

UniProtKB/Swiss-Prot : 75 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 : 76 Nager acrofacial dysostosis is a genetic congenital anomaly syndrome. Nager syndrome displays several or... more...

Related Diseases for Acrofacial Dysostosis 1, Nager Type

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

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
velopharyngeal insufficiency
cleft lip
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

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)

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 Nose:
high nasal bridge

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

Respiratory Airways:
hypoplasia of the epiglottis

Abdomen Gastrointestinal:
hirschsprung disease

Skin Nails Hair Hair:
partial to total absence of eyelashes


Clinical features from OMIM:

154400

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 ptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000508
2 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
3 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
4 skeletal dysplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002652
5 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
6 joint stiffness 59 32 frequent (33%) Frequent (79-30%) HP:0001387
7 microtia 59 32 frequent (33%) Frequent (79-30%) HP:0008551
8 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
9 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
10 abnormal nasal morphology 59 32 frequent (33%) Frequent (79-30%) HP:0005105
11 non-midline cleft lip 59 32 occasional (7.5%) Occasional (29-5%) HP:0100335
12 wide mouth 59 32 frequent (33%) Frequent (79-30%) HP:0000154
13 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
14 low-set, posteriorly rotated ears 59 32 occasional (7.5%) Occasional (29-5%) HP:0000368
15 downslanted palpebral fissures 59 32 hallmark (90%) Very frequent (99-80%) HP:0000494
16 aplasia/hypoplasia of the eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0100840
17 triphalangeal thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001199
18 atresia of the external auditory canal 59 32 frequent (33%) Frequent (79-30%) HP:0000413
19 aplasia/hypoplasia of the thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009601
20 abnormality of the lower limb 59 32 occasional (7.5%) Occasional (29-5%) HP:0002814
21 unilateral renal agenesis 59 32 occasional (7.5%) Occasional (29-5%) HP:0000122
22 lower eyelid coloboma 59 32 frequent (33%) Frequent (79-30%) HP:0000652
23 hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0002984
24 sparse lower eyelashes 59 32 frequent (33%) Frequent (79-30%) HP:0007776
25 phocomelia 59 32 occasional (7.5%) Occasional (29-5%) HP:0009829
26 malar flattening 32 HP:0000272
27 low-set ears 32 HP:0000369
28 clinodactyly 32 HP:0030084
29 hydrocephalus 32 HP:0000238
30 aqueductal stenosis 32 HP:0002410
31 scoliosis 32 HP:0002650
32 microcephaly 32 HP:0000252
33 short stature 32 HP:0004322
34 malformation of the heart and great vessels 59 Occasional (29-5%)
35 retrognathia 32 HP:0000278
36 patent ductus arteriosus 32 occasional (7.5%) HP:0001643
37 short toe 32 HP:0001831
38 talipes equinovarus 32 HP:0001762
39 prominent nasal bridge 32 HP:0000426
40 aganglionic megacolon 32 HP:0002251
41 hip dislocation 32 HP:0002827
42 conductive hearing impairment 32 HP:0000405
43 tetralogy of fallot 32 HP:0001636
44 ventricular septal defect 32 occasional (7.5%) HP:0001629
45 urticaria 32 HP:0001025
46 hallux valgus 32 HP:0001822
47 radioulnar synostosis 32 HP:0002974
48 cheekbone underdevelopment 59 Very frequent (99-80%)
49 midface retrusion 32 HP:0011800
50 abnormality of the palate 59 Frequent (79-30%)

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 viability in esophageal squamous lineage GR00235-A 9.17 ARSE DHODH EFTUD2 GLA PRRX2 SF3B4

Drugs & Therapeutics for Acrofacial Dysostosis 1, Nager Type

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Comparison Between Internal and External Distractors in Osteogenesis Not yet recruiting NCT03540329 Not Applicable

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, Skin, Heart, Breast, Lung

Publications for Acrofacial Dysostosis 1, Nager Type

Articles related to Acrofacial Dysostosis 1, Nager Type:

(show all 48)
# Title Authors Year
1
Decannulation and Airway Outcomes With Maxillomandibular Distraction in Treacher Collins and Nager Syndrome. ( 29381611 )
2018
2
Modified Lefort Distraction Osteogenesis for the Treatment of Nager Syndrome-Associated Midface Hypoplasia: Technique and Review. ( 29916980 )
2018
3
Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome. ( 28139434 )
2017
4
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. ( 27966544 )
2017
5
Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review. ( 28688869 )
2017
6
A Case Report of Absent Epiglottis in Children With Nager Syndrome: Its Impact on Swallowing. ( 27723379 )
2017
7
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray. ( 26679067 )
2016
8
Sf3b4-depleted Xenopus embryos: A model to study the pathogenesis of craniofacial defects in Nager syndrome. ( 26874011 )
2016
9
Nager Syndrome with Eventration of Diaphragm: A Rare Presentation. ( 27130509 )
2016
10
Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction. ( 27144155 )
2016
11
The Craniofacial and Upper Limb Management of Nager Syndrome. ( 27171953 )
2016
12
Use of the C-MAC® adult D blade in paediatric patients with Nager syndrome. ( 27608358 )
2016
13
Nager syndrome and Pierre Robin sequence. ( 25808856 )
2015
14
Nager syndrome. ( 25543163 )
2015
15
Orbital soft tissue surgery for patients with Treacher-Collins or Nager syndrome. A new surgical approach with early correction of soft tissue: prospective study. ( 25799958 )
2015
16
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. ( 24003905 )
2014
17
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. ( 25337072 )
2014
18
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? ( 24715698 )
2014
19
Management of soft palate agenesis in Nager syndrome with an elongated, superiorly based pharyngeal flap. ( 25397380 )
2014
20
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. ( 23568615 )
2013
21
Limbal dermoid in Nager syndrome acrofacial dysostosis: A rare case report. ( 23619484 )
2013
22
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. ( 23913624 )
2013
23
Prenatal phenotype of Nager syndrome and Rodriguez syndrome: variable expression of the same entity? ( 23811969 )
2013
24
Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature. ( 21723020 )
2012
25
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. ( 22541558 )
2012
26
The first reported treatment of Nager syndrome associated hearing loss with bone-anchored hearing aids: case report. ( 22018095 )
2012
27
Nager syndrome: a case report. ( 22503264 )
2012
28
Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation. ( 27279120 )
2012
29
Overall intelligibility, articulation, resonance, voice and language in a child with Nager syndrome. ( 21145116 )
2011
30
Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy. ( 19180573 )
2009
31
Airway management in Nager Syndrome. ( 18947886 )
2008
32
Craniofacial structures and dental development in three patients with Nager syndrome. ( 17119427 )
2006
33
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. ( 15266620 )
2004
34
Nager syndrome (preaxial acrofacial dysostosis): a case report. ( 15184856 )
2004
35
Prenatal ultrasound diagnosis of Nager syndrome. ( 12601847 )
2003
36
Spontaneous expression of FRA3P in a patient with Nager syndrome. ( 12673663 )
2003
37
Anaesthetic implications of Nager syndrome. ( 11982847 )
2002
38
Flexor digitorum longus accessorius in the club foot of an infant with Nager syndrome. ( 11195131 )
2001
39
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. ( 11063257 )
2000
40
Nager syndrome. Problems and possibilities of therapy. ( 10961048 )
2000
41
Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. ( 9585434 )
1998
42
Mandibular malformations: growth characteristics and management in hemifacial microsomia and Nager syndrome. ( 10066111 )
1998
43
Urticaria pigmentosa and Nager syndrome. ( 8176025 )
1994
44
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. ( 8357008 )
1993
45
The Nager syndrome. ( 3321996 )
1987
46
Nager syndrome: an update of speech and hearing characteristics. ( 3472688 )
1987
47
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. ( 6881198 )
1983
48
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. ( 6837625 )
1983

Variations for Acrofacial Dysostosis 1, Nager Type

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

6 (show top 50) (show all 84)
# Gene Variation Type Significance SNP ID Assembly Location
1 SF3B4 NM_005850.4(SF3B4): c.1006C> T (p.Arg336Ter) single nucleotide variant Pathogenic rs397515324 GRCh37 Chromosome 1, 149895814: 149895814
2 SF3B4 NM_005850.4(SF3B4): c.1006C> T (p.Arg336Ter) single nucleotide variant Pathogenic rs397515324 GRCh38 Chromosome 1, 149923922: 149923922
3 SF3B4 NM_005850.4(SF3B4): c.864delT (p.His288Glnfs) deletion Pathogenic rs797045126 GRCh38 Chromosome 1, 149925885: 149925885
4 SF3B4 NM_005850.4(SF3B4): c.1252_1258delCTTCGAG (p.Leu418Alafs) deletion Pathogenic rs797045121 GRCh37 Chromosome 1, 149895451: 149895457
5 SF3B4 NM_005850.4(SF3B4): c.1252_1258delCTTCGAG (p.Leu418Alafs) deletion Pathogenic rs797045121 GRCh38 Chromosome 1, 149923559: 149923565
6 SF3B4 NM_005850.4(SF3B4): c.1232delC (p.Pro411Glnfs) deletion Pathogenic rs797045122 GRCh37 Chromosome 1, 149895477: 149895477
7 SF3B4 NM_005850.4(SF3B4): c.1232delC (p.Pro411Glnfs) deletion Pathogenic rs797045122 GRCh38 Chromosome 1, 149923585: 149923585
8 SF3B4 NM_005850.4(SF3B4): c.1199delC (p.Pro400Leufs) deletion Pathogenic rs797045123 GRCh37 Chromosome 1, 149895510: 149895510
9 SF3B4 NM_005850.4(SF3B4): c.1199delC (p.Pro400Leufs) deletion Pathogenic rs797045123 GRCh38 Chromosome 1, 149923618: 149923618
10 SF3B4 NM_005850.4(SF3B4): c.1148dupA (p.His383Glnfs) duplication Pathogenic rs797045124 GRCh37 Chromosome 1, 149895561: 149895561
11 SF3B4 NM_005850.4(SF3B4): c.1148dupA (p.His383Glnfs) duplication Pathogenic rs797045124 GRCh38 Chromosome 1, 149923669: 149923669
12 SF3B4 NM_005850.4(SF3B4): c.1060dupC (p.Arg354Profs) duplication Pathogenic rs782357237 GRCh37 Chromosome 1, 149895760: 149895760
13 SF3B4 NM_005850.4(SF3B4): c.1060dupC (p.Arg354Profs) duplication Pathogenic rs782357237 GRCh38 Chromosome 1, 149923868: 149923868
14 SF3B4 NM_005850.4(SF3B4): c.864delT (p.His288Glnfs) deletion Pathogenic rs797045126 GRCh37 Chromosome 1, 149897777: 149897777
15 SF3B4 NM_005850.4(SF3B4): c.836_837insGGGTATG (p.Thr280Glyfs) insertion Pathogenic rs797045127 GRCh37 Chromosome 1, 149897804: 149897805
16 SF3B4 NM_005850.4(SF3B4): c.836_837insGGGTATG (p.Thr280Glyfs) insertion Pathogenic rs797045127 GRCh38 Chromosome 1, 149925912: 149925913
17 SF3B4 NM_005850.4(SF3B4): c.827dupC (p.Ser277Ilefs) duplication Pathogenic rs797045128 GRCh37 Chromosome 1, 149897814: 149897814
18 SF3B4 NM_005850.4(SF3B4): c.827dupC (p.Ser277Ilefs) duplication Pathogenic rs797045128 GRCh38 Chromosome 1, 149925922: 149925922
19 SF3B4 NM_005850.4(SF3B4): c.796dupA (p.Met266Asnfs) duplication Pathogenic rs797045129 GRCh37 Chromosome 1, 149897845: 149897845
20 SF3B4 NM_005850.4(SF3B4): c.796dupA (p.Met266Asnfs) duplication Pathogenic rs797045129 GRCh38 Chromosome 1, 149925953: 149925953
21 SF3B4 NM_005850.4(SF3B4): c.769delA (p.Ile257Tyrfs) deletion Pathogenic rs797045130 GRCh37 Chromosome 1, 149897872: 149897872
22 SF3B4 NM_005850.4(SF3B4): c.769delA (p.Ile257Tyrfs) deletion Pathogenic rs797045130 GRCh38 Chromosome 1, 149925980: 149925980
23 SF3B4 NM_005850.4(SF3B4): c.661_664dupCCCA (p.Asn222Thrfs) duplication Pathogenic rs797045131 GRCh37 Chromosome 1, 149898310: 149898313
24 SF3B4 NM_005850.4(SF3B4): c.661_664dupCCCA (p.Asn222Thrfs) duplication Pathogenic rs797045131 GRCh38 Chromosome 1, 149926418: 149926421
25 SF3B4 NM_005850.4(SF3B4): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs797045132 GRCh37 Chromosome 1, 149898349: 149898349
26 SF3B4 NM_005850.4(SF3B4): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs797045132 GRCh38 Chromosome 1, 149926457: 149926457
27 SF3B4 NM_005850.4(SF3B4): c.452C> A (p.Ser151Ter) single nucleotide variant Pathogenic rs797045133 GRCh37 Chromosome 1, 149898522: 149898522
28 SF3B4 NM_005850.4(SF3B4): c.452C> A (p.Ser151Ter) single nucleotide variant Pathogenic rs797045133 GRCh38 Chromosome 1, 149926630: 149926630
29 SF3B4 NM_005850.4(SF3B4): c.88delT (p.Trp30Glyfs) deletion Pathogenic rs797045134 GRCh37 Chromosome 1, 149899133: 149899133
30 SF3B4 NM_005850.4(SF3B4): c.88delT (p.Trp30Glyfs) deletion Pathogenic rs797045134 GRCh38 Chromosome 1, 149927241: 149927241
31 SF3B4 NM_005850.4(SF3B4): c.543C> T (p.Asp181=) single nucleotide variant Likely benign rs41265150 GRCh38 Chromosome 1, 149926539: 149926539
32 SF3B4 NM_005850.4(SF3B4): c.543C> T (p.Asp181=) single nucleotide variant Likely benign rs41265150 GRCh37 Chromosome 1, 149898431: 149898431
33 SF3B4 NM_005850.4(SF3B4): c.519C> T (p.Thr173=) single nucleotide variant Likely benign rs143105666 GRCh38 Chromosome 1, 149926563: 149926563
34 SF3B4 NM_005850.4(SF3B4): c.519C> T (p.Thr173=) single nucleotide variant Likely benign rs143105666 GRCh37 Chromosome 1, 149898455: 149898455
35 SF3B4 NM_005850.4(SF3B4): c.-1C> T single nucleotide variant Likely benign rs587718470 GRCh38 Chromosome 1, 149927760: 149927760
36 SF3B4 NM_005850.4(SF3B4): c.-1C> T single nucleotide variant Likely benign rs587718470 GRCh37 Chromosome 1, 149899652: 149899652
37 SF3B4 NM_005850.4(SF3B4): c.-234T> C single nucleotide variant Benign rs72692813 GRCh37 Chromosome 1, 149899885: 149899885
38 SF3B4 NM_005850.4(SF3B4): c.-234T> C single nucleotide variant Benign rs72692813 GRCh38 Chromosome 1, 149927993: 149927993
39 SF3B4 NM_005850.4(SF3B4): c.-297C> T single nucleotide variant Benign rs17643644 GRCh37 Chromosome 1, 149899948: 149899948
40 SF3B4 NM_005850.4(SF3B4): c.-297C> T single nucleotide variant Benign rs17643644 GRCh38 Chromosome 1, 149928056: 149928056
41 SF3B4 NM_005850.4(SF3B4): c.707-8C> T single nucleotide variant Likely benign rs371485646 GRCh38 Chromosome 1, 149926050: 149926050
42 SF3B4 NM_005850.4(SF3B4): c.707-8C> T single nucleotide variant Likely benign rs371485646 GRCh37 Chromosome 1, 149897942: 149897942
43 SF3B4 NM_005850.4(SF3B4): c.600G> A (p.Pro200=) single nucleotide variant Uncertain significance rs148753561 GRCh38 Chromosome 1, 149926482: 149926482
44 SF3B4 NM_005850.4(SF3B4): c.600G> A (p.Pro200=) single nucleotide variant Uncertain significance rs148753561 GRCh37 Chromosome 1, 149898374: 149898374
45 SF3B4 NM_005850.4(SF3B4): c.-78T> C single nucleotide variant Likely benign rs373005050 GRCh38 Chromosome 1, 149927837: 149927837
46 SF3B4 NM_005850.4(SF3B4): c.-78T> C single nucleotide variant Likely benign rs373005050 GRCh37 Chromosome 1, 149899729: 149899729
47 SF3B4 NM_005850.4(SF3B4): c.-116C> T single nucleotide variant Benign rs60631776 GRCh38 Chromosome 1, 149927875: 149927875
48 SF3B4 NM_005850.4(SF3B4): c.-116C> T single nucleotide variant Benign rs60631776 GRCh37 Chromosome 1, 149899767: 149899767
49 SF3B4 NM_005850.4(SF3B4): c.1110G> A (p.Pro370=) single nucleotide variant Uncertain significance rs782435530 GRCh38 Chromosome 1, 149923707: 149923707
50 SF3B4 NM_005850.4(SF3B4): c.1110G> A (p.Pro370=) single nucleotide variant Uncertain significance rs782435530 GRCh37 Chromosome 1, 149895599: 149895599

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 EFTUD2 SF3B4 TXNL4A

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 EFTUD2 TXNL4A
2 spliceosomal complex GO:0005681 8.8 EFTUD2 SF3B4 TXNL4A

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

Sources for Acrofacial Dysostosis 1, Nager Type

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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