MCID: ACR058
MIFTS: 45

Acrofacial Dysostosis 1, Nager Type malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Acrofacial Dysostosis 1, Nager Type

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Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 12DISEASES, 51Orphanet, 24GTR, 36MeSH, 67UniProtKB/Swiss-Prot, 42NCIt, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen
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Aliases & Descriptions for Acrofacial Dysostosis 1, Nager Type:

Name: Acrofacial Dysostosis 1, Nager Type 49 10 11 45 22 23 67
Nager Syndrome 10 45 22 23 51 24 67
Nager Acrofacial Dysostosis 10 45 23 12 51 67
Nager Acrofacial Dysostosis Syndrome 45 22 23
Preaxial Acrofacial Dysostosis 10 45 23
Afd1 22 23 67
Nafd 23 51
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 45
Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies 67
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 51
 
Split Hand Deformity-Mandibulofacial Dysostosis 45
Preaxial Mandibulofacial Dysostosis 23
Preaxial Manibulofacial Dysostosis 10
Acrofacial Dysostosis, Nager Type 36
Acrofacial Dysostosis 1 22
Preaxial Acrodysostosis 51
Afd, Nager Type 45
Afd Nager Type 67
Afd 10


Classifications:



Characteristics (Orphanet epidemiological data):

51
nager syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM49 154400
Disease Ontology10 DOID:5768
NCIt42 C35795
Orphanet51 245
ICD10 via Orphanet28 Q75.4
MESH via Orphanet37 C538184
UMLS via Orphanet66 C0265245
MedGen34 C0265245

Summaries for Acrofacial Dysostosis 1, Nager Type

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OMIM:49 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 dysostosis and tetralogy of fallot, and has symptoms including micrognathia, hearing impairment and downslanted palpebral fissures. An important gene associated with Acrofacial Dysostosis 1, Nager Type is SF3B4 (Splicing Factor 3b, Subunit 4, 49kDa), and among its related pathways are mRNA Splicing - Major Pathway and Gene Expression. Affiliated tissues include bone, skin and uterus.

Disease Ontology:10 A syndrome that affects the development of the face, hands, and arms. affected children have 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.

NIH Rare Diseases:45 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

Genetics Home Reference:23 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.

UniProtKB/Swiss-Prot:67 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:68 Nager acrofacial dysostosis is a congenital anomaly syndrome. more...

Related Diseases for Acrofacial Dysostosis 1, Nager Type

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

(show all 16)
idRelated DiseaseScoreTop Affiliating Genes
1dysostosis11.2
2tetralogy of fallot10.5
3polydactyly10.5
4coloboma10.5
5cleft lip10.5
6acrofacial dysostosis palagonia type10.2
7diabetic embryopathy10.2
8congenital diaphragmatic hernia10.1
9urticaria pigmentosa10.1
10ankylosis10.1
11urticaria10.1
12acrofacial dysostosis catania type10.1
13urethral calculus10.1EFTUD2, TXNL4A
14dystonia9.9DHODH, EFTUD2, SF3B4
15treacher collins syndrome 19.8DHODH, EFTUD2, SF3B4, TXNL4A
16acrofacial dysostosis 1, nager type8.1AFD1, ANKMY2, ARSE, DHODH, EFTUD2, EIF4A3

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



Diseases related to acrofacial dysostosis 1, nager type

Symptoms for Acrofacial Dysostosis 1, Nager Type

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Symptoms by clinical synopsis from OMIM:

154400

Clinical features from OMIM:

154400

Symptoms:

 51 (show all 30)
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hearing loss/hypoacusia/deafness
  • thumb hypoplasia/aplasia/absence
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • autosomal dominant inheritance
  • absent/decreased/thin eyebrows
  • anomalies of eyelids, eyelashes and lacrimal system
  • ptosis
  • coloboma of the eyelid
  • long/large/bulbous nose
  • macrostomia/big mouth
  • palate anomalies
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • external auditory canal atresia/stenosis/agenesis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • radioulnar synostosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • restricted joint mobility/joint stiffness/ankylosis
  • lateral cleft lip/gingival cleft/paramedian nasal cleft
  • low set ears/posteriorly rotated ears
  • phocomelia
  • fingerlike/triphalangeal thumb
  • lower limb segmental anomalies
  • congenital cardiac anomaly/malformation/cardiopathy
  • agenesis/hypoplasia/aplasia of kidneys

HPO human phenotypes related to Acrofacial Dysostosis 1, Nager Type:

(show all 79)
id Description Frequency HPO Source Accession
1 micrognathia hallmark (90%) HP:0000347
2 hearing impairment hallmark (90%) HP:0000365
3 downslanted palpebral fissures hallmark (90%) HP:0000494
4 neurological speech impairment hallmark (90%) HP:0002167
5 skeletal dysplasia hallmark (90%) HP:0002652
6 hypoplasia of the zygomatic bone hallmark (90%) HP:0010669
7 wide mouth typical (50%) HP:0000154
8 cleft palate typical (50%) HP:0000175
9 atresia of the external auditory canal typical (50%) HP:0000413
10 ptosis typical (50%) HP:0000508
11 cleft eyelid typical (50%) HP:0000625
12 limitation of joint mobility typical (50%) HP:0001376
13 respiratory insufficiency typical (50%) HP:0002093
14 radioulnar synostosis typical (50%) HP:0002974
15 abnormal nasal morphology typical (50%) HP:0005105
16 aplasia/hypoplasia of the radius typical (50%) HP:0006501
17 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
18 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
19 triphalangeal thumb occasional (7.5%) HP:0001199
20 malformation of the heart and great vessels occasional (7.5%) HP:0002564
21 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
22 phocomelia occasional (7.5%) HP:0009829
23 non-midline cleft lip occasional (7.5%) HP:0100335
24 ventricular septal defect rare (5%) HP:0001629
25 patent ductus arteriosus rare (5%) HP:0001643
26 autosomal dominant inheritance HP:0000006
27 unilateral renal agenesis HP:0000122
28 wide mouth HP:0000154
29 cleft palate HP:0000175
30 cleft upper lip HP:0000204
31 trismus HP:0000211
32 velopharyngeal insufficiency HP:0000220
33 hydrocephalus HP:0000238
34 microcephaly HP:0000252
35 malar flattening HP:0000272
36 retrognathia HP:0000278
37 micrognathia HP:0000347
38 posteriorly rotated ears HP:0000358
39 low-set ears HP:0000369
40 preauricular skin tag HP:0000384
41 conductive hearing impairment HP:0000405
42 atresia of the external auditory canal HP:0000413
43 prominent nasal bridge HP:0000426
44 downslanted palpebral fissures HP:0000494
45 lower eyelid coloboma HP:0000652
46 delayed speech and language development HP:0000750
47 bicornuate uterus HP:0000813
48 urticaria HP:0001025
49 triphalangeal thumb HP:0001199
50 limited elbow extension HP:0001377
51 gastroschisis HP:0001543
52 premature birth HP:0001622
53 tetralogy of fallot HP:0001636
54 talipes equinovarus HP:0001762
55 toe syndactyly HP:0001770
56 hallux valgus HP:0001822
57 short toe HP:0001831
58 overlapping toe HP:0001845
59 oligodactyly (feet) HP:0001849
60 polymicrogyria HP:0002126
61 aganglionic megacolon HP:0002251
62 aqueductal stenosis HP:0002410
63 scoliosis HP:0002650
64 hip dislocation HP:0002827
65 radioulnar synostosis HP:0002974
66 hypoplasia of the radius HP:0002984
67 abnormality of the cervical spine HP:0003319
68 absent radius HP:0003974
69 short stature HP:0004322
70 hypoplasia of the epiglottis HP:0005349
71 hypoplasia of first ribs HP:0006657
72 sparse lower eyelashes HP:0007776
73 laryngeal hypoplasia HP:0008749
74 radial deviation of finger HP:0009466
75 aplasia/hypoplasia of the thumb HP:0009601
76 absent thumb HP:0009777
77 broad hallux HP:0010055
78 hypoplasia of midface HP:0011800
79 clinodactyly HP:0030084

Drugs & Therapeutics for Acrofacial Dysostosis 1, Nager Type

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Acrofacial Dysostosis 1, Nager Type


Cochrane evidence based reviews: Acrofacial dysostosis, Nager type

Genetic Tests for Acrofacial Dysostosis 1, Nager Type

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Genetic tests related to Acrofacial Dysostosis 1, Nager Type:

id Genetic test Affiliating Genes
1 Nager Syndrome22 24 SF3B4

Anatomical Context for Acrofacial Dysostosis 1, Nager Type

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

33
Bone, Skin, Uterus, Lung, Kidney, Heart, Eye

Animal Models for Acrofacial Dysostosis 1, Nager Type or affiliated genes

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

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes

Publications for Acrofacial Dysostosis 1, Nager Type

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Variations for Acrofacial Dysostosis 1, Nager Type

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

5 (show all 24)
id Gene Variation Type Significance SNP ID Assembly Location
1SF3B4NM_005850.4(SF3B4): c.1252_1258delCTTCGAG (p.Leu418Alafs)deletionPathogenicrs797045121GRCh37Chr 1, 149895451: 149895457
2SF3B4NM_005850.4(SF3B4): c.1232delC (p.Pro411Glnfs)deletionPathogenicrs797045122GRCh37Chr 1, 149895477: 149895477
3SF3B4NM_005850.4(SF3B4): c.1199delC (p.Pro400Leufs)deletionPathogenicrs797045123GRCh37Chr 1, 149895510: 149895510
4SF3B4NM_005850.4(SF3B4): c.1148dupA (p.His383Glnfs)duplicationPathogenicrs797045124GRCh37Chr 1, 149895561: 149895561
5SF3B4NM_005850.4(SF3B4): c.1060dupC (p.Arg354Profs)duplicationPathogenicrs782357237GRCh37Chr 1, 149895760: 149895760
6SF3B4NM_005850.4(SF3B4): c.913+1G> Asingle nucleotide variantPathogenicrs797045125GRCh37Chr 1, 149897727: 149897727
7SF3B4NM_005850.4(SF3B4): c.864delT (p.His288Glnfs)deletionPathogenicrs797045126GRCh37Chr 1, 149897777: 149897777
8SF3B4NM_005850.4(SF3B4): c.836_837insGGGTATG (p.Thr280Glyfs)insertionPathogenicrs797045127GRCh37Chr 1, 149897804: 149897805
9SF3B4NM_005850.4(SF3B4): c.827dupC (p.Ser277Ilefs)duplicationPathogenicrs797045128GRCh37Chr 1, 149897814: 149897814
10SF3B4NM_005850.4(SF3B4): c.796dupA (p.Met266Asnfs)duplicationPathogenicrs797045129GRCh37Chr 1, 149897845: 149897845
11SF3B4NM_005850.4(SF3B4): c.769delA (p.Ile257Tyrfs)deletionPathogenicrs797045130GRCh37Chr 1, 149897872: 149897872
12SF3B4NM_005850.4(SF3B4): c.661_664dupCCCA (p.Asn222Thrfs)duplicationPathogenicrs797045131GRCh37Chr 1, 149898310: 149898313
13SF3B4NM_005850.4(SF3B4): c.625C> T (p.Gln209Ter)single nucleotide variantPathogenicrs797045132GRCh38Chr 1, 149926457: 149926457
14SF3B4NM_005850.4(SF3B4): c.452C> A (p.Ser151Ter)single nucleotide variantPathogenicrs797045133GRCh37Chr 1, 149898522: 149898522
15SF3B4NM_005850.4(SF3B4): c.88delT (p.Trp30Glyfs)deletionPathogenicrs797045134GRCh37Chr 1, 149899133: 149899133
16SF3B4NM_005850.4(SF3B4): c.1230_1249del20 (p.Pro411Thrfs)deletionPathogenicrs797045954GRCh37Chr 1, 149895460: 149895479
17SF3B4NM_005850.4(SF3B4): c.193G> T (p.Glu65Ter)single nucleotide variantPathogenicrs797045955GRCh37Chr 1, 149898781: 149898781
18SF3B4NM_005850.4(SF3B4): c.45_46delGT (p.Tyr16Argfs)deletionPathogenicrs797045956GRCh37Chr 1, 149899175: 149899176
19SF3B4NM_005850.4(SF3B4): c.731_743delCACCCCCAGTGCC (p.Pro244Hisfs)deletionPathogenicrs797045957GRCh37Chr 1, 149897898: 149897910
20SF3B4NM_005850.4(SF3B4): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs387907185GRCh37Chr 1, 149899651: 149899651
21SF3B4NM_005850.4(SF3B4): c.1147dupC (p.His383Profs)duplicationPathogenicrs387907186GRCh37Chr 1, 149895562: 149895562
22SF3B4NM_005850.4(SF3B4): c.1147delC (p.His383Metfs)deletionPathogenicrs387907187GRCh37Chr 1, 149895562: 149895562
23SF3B4SF3B4, IVS4, G-A, +1single nucleotide variantPathogenic
24SF3B4NM_005850.4(SF3B4): c.1006C> T (p.Arg336Ter)single nucleotide variantPathogenicrs397515324GRCh37Chr 1, 149895814: 149895814

Expression for genes affiliated with Acrofacial Dysostosis 1, Nager Type

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

Pathways for genes affiliated with Acrofacial Dysostosis 1, Nager Type

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
8.7EFTUD2, EIF4A3, SF3B4, SNRPB, TXNL4A
2
Show member pathways
7.9EFTUD2, EIF4A3, SF3B4, SNRPB, TXNL4A, ZFP37

GO Terms for genes affiliated with Acrofacial Dysostosis 1, Nager Type

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

idNameGO IDScoreTop Affiliating Genes
1U5 snRNPGO:000568210.0SNRPB, TXNL4A
2U4/U6 x U5 tri-snRNP complexGO:004654010.0SNRPB, TXNL4A
3U12-type spliceosomal complexGO:00056899.8SF3B4, SNRPB
4catalytic step 2 spliceosomeGO:00710139.2EFTUD2, EIF4A3, SNRPB
5spliceosomal complexGO:00056818.8EFTUD2, SF3B4, SNRPB, TXNL4A

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

idNameGO IDScoreTop Affiliating Genes
1RNA splicing, via transesterification reactionsGO:000037510.4SF3B4, TXNL4A
2embryonic cranial skeleton morphogenesisGO:00487019.7EIF4A3, PRRX2
3inner ear morphogenesisGO:00424729.6OTX1, PRRX2
4mRNA splicing, via spliceosomeGO:00003988.9EFTUD2, EIF4A3, SF3B4, SNRPB, TXNL4A
5RNA splicingGO:00083808.8EFTUD2, EIF4A3, SF3B4, SNRPB, TXNL4A
6gene expressionGO:00104678.4EFTUD2, EIF4A3, SF3B4, SNRPB, TXNL4A

Sources for Acrofacial Dysostosis 1, Nager Type

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet