AFD1
MCID: ACR058
MIFTS: 38

Acrofacial Dysostosis 1, Nager Type (AFD1) malady

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

Aliases & Classifications for Acrofacial Dysostosis 1, Nager Type

Aliases & Descriptions for Acrofacial Dysostosis 1, Nager Type:

Name: Acrofacial Dysostosis 1, Nager Type 54 12 50 24 25 66 13
Nager Syndrome 12 50 24 25 56 66 29 69
Nager Acrofacial Dysostosis 12 50 24 25 56 66 14
Preaxial Acrofacial Dysostosis 12 50 25
Afd1 24 25 66
Nager Acrofacial Dysostosis Syndrome 50 25
Nafd 25 56
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 50
Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies 66
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 56
Split Hand Deformity-Mandibulofacial Dysostosis 50
Preaxial Mandibulofacial Dysostosis 25
Preaxial Manibulofacial Dysostosis 12
Acrofacial Dysostosis 1 24
Preaxial Acrodysostosis 56
Afd, Nager Type 50
Afd Nager Type 66
Afd 12

Characteristics:

Orphanet epidemiological data:

56
nager syndrome
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy;

HPO:

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


Classifications:



External Ids:

OMIM 54 154400
Disease Ontology 12 DOID:5768
NCIt 47 C35795
Orphanet 56 ORPHA245
MESH via Orphanet 43 C538184
UMLS via Orphanet 70 C0265245
ICD10 via Orphanet 34 Q75.4
MedGen 40 C0265245
MeSH 42 D008342
UMLS 69 C1332140

Summaries for Acrofacial Dysostosis 1, Nager Type

OMIM : 54 Nager syndrome is the prototype for a group of disorders collectively referred to as the acrofacial dysostoses (AFDs),... (154400) more...

MalaCards based summary : Acrofacial Dysostosis 1, Nager Type, also known as nager syndrome, is related to acrofacial dysostosis, palagonia type and acrofacial dysostosis, and has symptoms including joint stiffness, ptosis and respiratory insufficiency. 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, heart and skin.

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 : 50 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. last updated: 2/25/2014

UniProtKB/Swiss-Prot : 66 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 : 71 Nager acrofacial dysostosis is a congenital anomaly... 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 by clinical synopsis from OMIM:

154400

Clinical features from OMIM:

154400

Human phenotypes related to Acrofacial Dysostosis 1, Nager Type:

56 32 (show top 50) (show all 74)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 joint stiffness 56 32 Frequent (79-30%) HP:0001387
2 ptosis 56 32 Frequent (79-30%) HP:0000508
3 respiratory insufficiency 56 32 Frequent (79-30%) HP:0002093
4 hearing impairment 56 32 Very frequent (99-80%) HP:0000365
5 skeletal dysplasia 56 32 Very frequent (99-80%) HP:0002652
6 delayed speech and language development 56 32 Very frequent (99-80%) HP:0000750
7 microtia 56 32 Frequent (79-30%) HP:0008551
8 cleft palate 56 32 Frequent (79-30%) HP:0000175
9 micrognathia 56 32 Very frequent (99-80%) HP:0000347
10 abnormal nasal morphology 56 32 Frequent (79-30%) HP:0005105
11 non-midline cleft lip 56 32 Occasional (29-5%) HP:0100335
12 wide mouth 56 32 Frequent (79-30%) HP:0000154
13 hypoplasia of the maxilla 56 32 Very frequent (99-80%) HP:0000327
14 low-set, posteriorly rotated ears 56 32 Occasional (29-5%) HP:0000368
15 downslanted palpebral fissures 56 32 Very frequent (99-80%) HP:0000494
16 aplasia/hypoplasia of the eyebrow 56 32 Frequent (79-30%) HP:0100840
17 triphalangeal thumb 56 32 Occasional (29-5%) HP:0001199
18 atresia of the external auditory canal 56 32 Frequent (79-30%) HP:0000413
19 aplasia/hypoplasia of the thumb 56 32 Very frequent (99-80%) HP:0009601
20 abnormality of the lower limb 56 32 Occasional (29-5%) HP:0002814
21 unilateral renal agenesis 56 32 Occasional (29-5%) HP:0000122
22 lower eyelid coloboma 56 32 Frequent (79-30%) HP:0000652
23 hypoplasia of the radius 56 32 Frequent (79-30%) HP:0002984
24 sparse lower eyelashes 56 32 Frequent (79-30%) HP:0007776
25 phocomelia 56 32 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 56 Occasional (29-5%)
35 retrognathia 32 HP:0000278
36 patent ductus arteriosus 32 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 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 56 Very frequent (99-80%)
49 midface retrusion 32 HP:0011800
50 preauricular skin tag 32 HP:0000384

Drugs & Therapeutics for Acrofacial Dysostosis 1, Nager Type

Search Clinical Trials , 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:

id Genetic test Affiliating Genes
1 Nager Syndrome 29 24 SF3B4

Anatomical Context for Acrofacial Dysostosis 1, Nager Type

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

39
Bone, Heart, Skin, Eye, Uterus

Publications for Acrofacial Dysostosis 1, Nager Type

Variations for Acrofacial Dysostosis 1, Nager Type

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

6 (show all 23)
id 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.1147dupC (p.His383Profs) duplication Pathogenic rs387907186 GRCh37 Chromosome 1, 149895562: 149895562
3 SF3B4 NM_005850.4(SF3B4): c.1147delC (p.His383Metfs) deletion Pathogenic rs387907187 GRCh37 Chromosome 1, 149895562: 149895562
4 SF3B4 NM_005850.4(SF3B4): c.913+1G> A single nucleotide variant Pathogenic rs797045125 GRCh37 Chromosome 1, 149897727: 149897727
5 SF3B4 NM_005850.4(SF3B4): c.1006C> T (p.Arg336Ter) single nucleotide variant Pathogenic rs397515324 GRCh37 Chromosome 1, 149895814: 149895814
6 SF3B4 NM_005850.4(SF3B4): c.1252_1258delCTTCGAG (p.Leu418Alafs) deletion Pathogenic rs797045121 GRCh37 Chromosome 1, 149895451: 149895457
7 SF3B4 NM_005850.4(SF3B4): c.1232delC (p.Pro411Glnfs) deletion Pathogenic rs797045122 GRCh37 Chromosome 1, 149895477: 149895477
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.1148dupA (p.His383Glnfs) duplication Pathogenic rs797045124 GRCh37 Chromosome 1, 149895561: 149895561
10 SF3B4 NM_005850.4(SF3B4): c.1060dupC (p.Arg354Profs) duplication Pathogenic rs782357237 GRCh37 Chromosome 1, 149895760: 149895760
11 SF3B4 NM_005850.4(SF3B4): c.864delT (p.His288Glnfs) deletion Pathogenic rs797045126 GRCh37 Chromosome 1, 149897777: 149897777
12 SF3B4 NM_005850.4(SF3B4): c.836_837insGGGTATG (p.Thr280Glyfs) insertion Pathogenic rs797045127 GRCh37 Chromosome 1, 149897804: 149897805
13 SF3B4 NM_005850.4(SF3B4): c.827dupC (p.Ser277Ilefs) duplication Pathogenic rs797045128 GRCh37 Chromosome 1, 149897814: 149897814
14 SF3B4 NM_005850.4(SF3B4): c.796dupA (p.Met266Asnfs) duplication Pathogenic rs797045129 GRCh37 Chromosome 1, 149897845: 149897845
15 SF3B4 NM_005850.4(SF3B4): c.769delA (p.Ile257Tyrfs) deletion Pathogenic rs797045130 GRCh37 Chromosome 1, 149897872: 149897872
16 SF3B4 NM_005850.4(SF3B4): c.661_664dupCCCA (p.Asn222Thrfs) duplication Pathogenic rs797045131 GRCh37 Chromosome 1, 149898310: 149898313
17 SF3B4 NM_005850.4(SF3B4): c.625C> T (p.Gln209Ter) single nucleotide variant Pathogenic rs797045132 GRCh37 Chromosome 1, 149898349: 149898349
18 SF3B4 NM_005850.4(SF3B4): c.452C> A (p.Ser151Ter) single nucleotide variant Pathogenic rs797045133 GRCh37 Chromosome 1, 149898522: 149898522
19 SF3B4 NM_005850.4(SF3B4): c.88delT (p.Trp30Glyfs) deletion Pathogenic rs797045134 GRCh37 Chromosome 1, 149899133: 149899133
20 SF3B4 NM_005850.4(SF3B4): c.1230_1249del20 (p.Pro411Thrfs) deletion Pathogenic rs797045954 GRCh37 Chromosome 1, 149895460: 149895479
21 SF3B4 NM_005850.4(SF3B4): c.731_743delCACCCCCAGTGCC (p.Pro244Hisfs) deletion Pathogenic rs797045957 GRCh38 Chromosome 1, 149926006: 149926018
22 SF3B4 NM_005850.4(SF3B4): c.193G> T (p.Glu65Ter) single nucleotide variant Pathogenic rs797045955 GRCh37 Chromosome 1, 149898781: 149898781
23 SF3B4 NM_005850.4(SF3B4): c.45_46delGT (p.Tyr16Argfs) deletion Pathogenic rs797045956 GRCh37 Chromosome 1, 149899175: 149899176

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:

id 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:

id 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:

id 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

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
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30 HGMD
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