MCID: ACR058
MIFTS: 46

Acrofacial Dysostosis 1, Nager Type

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

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

(show all 11)
# Related Disease Score Top Affiliating Genes
1 dysostosis 30.7 DHODH EFTUD2 SF3B4
2 acrofacial dysostosis 30.4 ARSE DHODH SF3B4 TXNL4A
3 acrofacial dysostosis, catania type 11.1
4 acrofacial dysostosis, palagonia type 11.1
5 tetralogy of fallot 10.2
6 lung agenesis 10.2
7 polydactyly 10.2
8 ankylosis 10.2
9 cleft lip 10.2
10 choanal atresia, posterior 9.6 EFTUD2 TXNL4A
11 treacher collins syndrome 1 8.6 DHODH EFTUD2 SF3B4 TXNL4A VWA1

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 prominent nasal bridge 32 HP:0000426
39 aganglionic megacolon 32 HP:0002251
40 hip dislocation 32 HP:0002827
41 conductive hearing impairment 32 HP:0000405
42 tetralogy of fallot 32 HP:0001636
43 ventricular septal defect 32 occasional (7.5%) HP:0001629
44 talipes equinovarus 32 HP:0001762
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 9.1 ARSE DHODH EFTUD2 PRRX2 SF3B4 TXNL4A

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, Uterus, Breast

Publications for Acrofacial Dysostosis 1, Nager Type

Articles related to Acrofacial Dysostosis 1, Nager Type:

(show all 23)
# Title Authors Year
1
Synchronous Bilateral Breast Cancer in a Patient With Nager Syndrome. ( 28139434 )
2017
2
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. ( 27966544 )
2017
3
Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review. ( 28688869 )
2017
4
Nager syndrome and Pierre Robin sequence. ( 25808856 )
2015
5
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. ( 24003905 )
2014
6
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. ( 25337072 )
2014
7
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. ( 23568615 )
2013
8
Limbal dermoid in Nager syndrome acrofacial dysostosis: A rare case report. ( 23619484 )
2013
9
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. ( 23913624 )
2013
10
Temporomandibular joint replacement for ankylosis correction in Nager syndrome: case report and review of the literature. ( 21723020 )
2012
11
Haploinsufficiency of SF3B4, a component of the pre-mRNA spliceosomal complex, causes Nager syndrome. ( 22541558 )
2012
12
Craniofacial structures and dental development in three patients with Nager syndrome. ( 17119427 )
2006
13
Genioplasty distraction osteogenesis and hyoid advancement for correction of upper airway obstruction in patients with Treacher Collins and Nager syndromes. ( 16772947 )
2006
14
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. ( 15266620 )
2004
15
Nager syndrome (preaxial acrofacial dysostosis): a case report. ( 15184856 )
2004
16
Prenatal ultrasound diagnosis of Nager syndrome. ( 12601847 )
2003
17
Long-term outcome study of bilateral mandibular distraction: a comparison of Treacher Collins and Nager syndromes to other types of micrognathia. ( 11994578 )
2002
18
Human PRRX1 and PRRX2 genes: cloning, expression, genomic localization, and exclusion as disease genes for Nager syndrome. ( 11063257 )
2000
19
Cloning, characterization, and chromosomal assignment of the human ortholog of murine Zfp-37, a candidate gene for Nager syndrome. ( 9585434 )
1998
20
Urticaria pigmentosa and Nager syndrome. ( 8176025 )
1994
21
Preaxial acrofacial dysostosis (Nager syndrome) associated with an inherited and apparently balanced X;9 translocation: prenatal and postnatal late replication studies. ( 8357008 )
1993
22
Acrofacial dysostosis (Nager syndrome): synopsis and report of a new case. ( 6881198 )
1983
23
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 82)
# Gene Variation Type Significance SNP ID Assembly Location
1 SF3B4 NM_005850.4(SF3B4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387907185 GRCh37 Chromosome 1, 149899651: 149899651
2 SF3B4 NM_005850.4(SF3B4): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs387907185 GRCh38 Chromosome 1, 149927759: 149927759
3 SF3B4 NM_005850.4(SF3B4): c.1147dupC (p.His383Profs) duplication Pathogenic rs387907186 GRCh37 Chromosome 1, 149895562: 149895562
4 SF3B4 NM_005850.4(SF3B4): c.1147dupC (p.His383Profs) duplication Pathogenic rs387907186 GRCh38 Chromosome 1, 149923670: 149923670
5 SF3B4 NM_005850.4(SF3B4): c.1147delC (p.His383Metfs) deletion Pathogenic rs387907187 GRCh37 Chromosome 1, 149895562: 149895562
6 SF3B4 NM_005850.4(SF3B4): c.1147delC (p.His383Metfs) deletion Pathogenic rs387907187 GRCh38 Chromosome 1, 149923670: 149923670
7 SF3B4 NM_005850.4(SF3B4): c.913+1G> A single nucleotide variant Pathogenic rs797045125 GRCh37 Chromosome 1, 149897727: 149897727
8 SF3B4 NM_005850.4(SF3B4): c.913+1G> A single nucleotide variant Pathogenic rs797045125 GRCh38 Chromosome 1, 149925835: 149925835
9 SF3B4 NM_005850.4(SF3B4): c.1006C> T (p.Arg336Ter) single nucleotide variant Pathogenic rs397515324 GRCh37 Chromosome 1, 149895814: 149895814
10 SF3B4 NM_005850.4(SF3B4): c.1006C> T (p.Arg336Ter) single nucleotide variant Pathogenic rs397515324 GRCh38 Chromosome 1, 149923922: 149923922
11 SF3B4 NM_005850.4(SF3B4): c.1252_1258delCTTCGAG (p.Leu418Alafs) deletion Pathogenic rs797045121 GRCh37 Chromosome 1, 149895451: 149895457
12 SF3B4 NM_005850.4(SF3B4): c.1252_1258delCTTCGAG (p.Leu418Alafs) deletion Pathogenic rs797045121 GRCh38 Chromosome 1, 149923559: 149923565
13 SF3B4 NM_005850.4(SF3B4): c.1232delC (p.Pro411Glnfs) deletion Pathogenic rs797045122 GRCh37 Chromosome 1, 149895477: 149895477
14 SF3B4 NM_005850.4(SF3B4): c.1232delC (p.Pro411Glnfs) deletion Pathogenic rs797045122 GRCh38 Chromosome 1, 149923585: 149923585
15 SF3B4 NM_005850.4(SF3B4): c.1199delC (p.Pro400Leufs) deletion Pathogenic rs797045123 GRCh37 Chromosome 1, 149895510: 149895510
16 SF3B4 NM_005850.4(SF3B4): c.1199delC (p.Pro400Leufs) deletion Pathogenic rs797045123 GRCh38 Chromosome 1, 149923618: 149923618
17 SF3B4 NM_005850.4(SF3B4): c.1148dupA (p.His383Glnfs) duplication Pathogenic rs797045124 GRCh37 Chromosome 1, 149895561: 149895561
18 SF3B4 NM_005850.4(SF3B4): c.1148dupA (p.His383Glnfs) duplication Pathogenic rs797045124 GRCh38 Chromosome 1, 149923669: 149923669
19 SF3B4 NM_005850.4(SF3B4): c.1060dupC (p.Arg354Profs) duplication Pathogenic rs782357237 GRCh37 Chromosome 1, 149895760: 149895760
20 SF3B4 NM_005850.4(SF3B4): c.1060dupC (p.Arg354Profs) duplication Pathogenic rs782357237 GRCh38 Chromosome 1, 149923868: 149923868
21 SF3B4 NM_005850.4(SF3B4): c.864delT (p.His288Glnfs) deletion Pathogenic rs797045126 GRCh37 Chromosome 1, 149897777: 149897777
22 SF3B4 NM_005850.4(SF3B4): c.864delT (p.His288Glnfs) deletion Pathogenic rs797045126 GRCh38 Chromosome 1, 149925885: 149925885
23 SF3B4 NM_005850.4(SF3B4): c.836_837insGGGTATG (p.Thr280Glyfs) insertion Pathogenic rs797045127 GRCh37 Chromosome 1, 149897804: 149897805
24 SF3B4 NM_005850.4(SF3B4): c.836_837insGGGTATG (p.Thr280Glyfs) insertion Pathogenic rs797045127 GRCh38 Chromosome 1, 149925912: 149925913
25 SF3B4 NM_005850.4(SF3B4): c.827dupC (p.Ser277Ilefs) duplication Pathogenic rs797045128 GRCh37 Chromosome 1, 149897814: 149897814
26 SF3B4 NM_005850.4(SF3B4): c.827dupC (p.Ser277Ilefs) duplication Pathogenic rs797045128 GRCh38 Chromosome 1, 149925922: 149925922
27 SF3B4 NM_005850.4(SF3B4): c.796dupA (p.Met266Asnfs) duplication Pathogenic rs797045129 GRCh37 Chromosome 1, 149897845: 149897845
28 SF3B4 NM_005850.4(SF3B4): c.796dupA (p.Met266Asnfs) duplication Pathogenic rs797045129 GRCh38 Chromosome 1, 149925953: 149925953
29 SF3B4 NM_005850.4(SF3B4): c.769delA (p.Ile257Tyrfs) deletion Pathogenic rs797045130 GRCh37 Chromosome 1, 149897872: 149897872
30 SF3B4 NM_005850.4(SF3B4): c.769delA (p.Ile257Tyrfs) deletion Pathogenic rs797045130 GRCh38 Chromosome 1, 149925980: 149925980
31 SF3B4 NM_005850.4(SF3B4): c.661_664dupCCCA (p.Asn222Thrfs) duplication Pathogenic rs797045131 GRCh37 Chromosome 1, 149898310: 149898313
32 SF3B4 NM_005850.4(SF3B4): c.661_664dupCCCA (p.Asn222Thrfs) duplication Pathogenic rs797045131 GRCh38 Chromosome 1, 149926418: 149926421
33 SF3B4 NM_005850.4(SF3B4): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs797045132 GRCh37 Chromosome 1, 149898349: 149898349
34 SF3B4 NM_005850.4(SF3B4): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs797045132 GRCh38 Chromosome 1, 149926457: 149926457
35 SF3B4 NM_005850.4(SF3B4): c.452C> A (p.Ser151Ter) single nucleotide variant Pathogenic rs797045133 GRCh37 Chromosome 1, 149898522: 149898522
36 SF3B4 NM_005850.4(SF3B4): c.452C> A (p.Ser151Ter) single nucleotide variant Pathogenic rs797045133 GRCh38 Chromosome 1, 149926630: 149926630
37 SF3B4 NM_005850.4(SF3B4): c.88delT (p.Trp30Glyfs) deletion Pathogenic rs797045134 GRCh37 Chromosome 1, 149899133: 149899133
38 SF3B4 NM_005850.4(SF3B4): c.88delT (p.Trp30Glyfs) deletion Pathogenic rs797045134 GRCh38 Chromosome 1, 149927241: 149927241
39 SF3B4 NM_005850.4(SF3B4): c.1230_1249del20 (p.Pro411Thrfs) deletion Pathogenic rs797045954 GRCh37 Chromosome 1, 149895460: 149895479
40 SF3B4 NM_005850.4(SF3B4): c.1230_1249del20 (p.Pro411Thrfs) deletion Pathogenic rs797045954 GRCh38 Chromosome 1, 149923568: 149923587
41 SF3B4 NM_005850.4(SF3B4): c.731_743delCACCCCCAGTGCC (p.Pro244Hisfs) deletion Pathogenic rs797045957 GRCh37 Chromosome 1, 149897898: 149897910
42 SF3B4 NM_005850.4(SF3B4): c.731_743delCACCCCCAGTGCC (p.Pro244Hisfs) deletion Pathogenic rs797045957 GRCh38 Chromosome 1, 149926006: 149926018
43 SF3B4 NM_005850.4(SF3B4): c.193G> T (p.Glu65Ter) single nucleotide variant Pathogenic rs797045955 GRCh37 Chromosome 1, 149898781: 149898781
44 SF3B4 NM_005850.4(SF3B4): c.193G> T (p.Glu65Ter) single nucleotide variant Pathogenic rs797045955 GRCh38 Chromosome 1, 149926889: 149926889
45 SF3B4 NM_005850.4(SF3B4): c.45_46delGT (p.Tyr16Argfs) deletion Pathogenic rs797045956 GRCh37 Chromosome 1, 149899175: 149899176
46 SF3B4 NM_005850.4(SF3B4): c.45_46delGT (p.Tyr16Argfs) deletion Pathogenic rs797045956 GRCh38 Chromosome 1, 149927283: 149927284
47 SF3B4 NM_005850.4(SF3B4): c.543C> T (p.Asp181=) single nucleotide variant Likely benign rs41265150 GRCh38 Chromosome 1, 149926539: 149926539
48 SF3B4 NM_005850.4(SF3B4): c.543C> T (p.Asp181=) single nucleotide variant Likely benign rs41265150 GRCh37 Chromosome 1, 149898431: 149898431
49 SF3B4 NM_005850.4(SF3B4): c.519C> T (p.Thr173=) single nucleotide variant Likely benign rs143105666 GRCh38 Chromosome 1, 149926563: 149926563
50 SF3B4 NM_005850.4(SF3B4): c.519C> T (p.Thr173=) single nucleotide variant Likely benign rs143105666 GRCh37 Chromosome 1, 149898455: 149898455

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
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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36 IUPHAR
37 KEGG
38 LifeMap
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44 MeSH
45 MESH via Orphanet
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49 NCI
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54 NINDS
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57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
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71 TGDB
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