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

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 52OMIM, 54Orphanet, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Acrofacial Dysostosis 1, Nager Type:

Name: Acrofacial Dysostosis 1, Nager Type 52 11 48 24 25 70 12
Nager Syndrome 11 48 24 25 54 70 27 68
Nager Acrofacial Dysostosis 11 48 24 25 54 70 13
Preaxial Acrofacial Dysostosis 11 48 25
Afd1 24 25 70
Nager Acrofacial Dysostosis Syndrome 48 25
Nafd 25 54
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 48
Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies 70
 
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 54
Split Hand Deformity-Mandibulofacial Dysostosis 48
Preaxial Mandibulofacial Dysostosis 25
Preaxial Manibulofacial Dysostosis 11
Preaxial Acrodysostosis 54
Acrofacial Dysostosis 1 24
Afd, Nager Type 48
Afd Nager Type 70
Afd 11

Characteristics:

Orphanet epidemiological data:

54
nager syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy

HPO:

64
acrofacial dysostosis 1, nager type:
Inheritance: autosomal dominant inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM52 154400
Disease Ontology11 DOID:5768
NCIt45 C35795
Orphanet54 ORPHA245
MESH via Orphanet40 C538184
UMLS via Orphanet69 C0265245
ICD10 via Orphanet31 Q75.4
MedGen37 C0265245
MeSH39 D008342

Summaries for Acrofacial Dysostosis 1, Nager Type

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OMIM:52 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 Array, Array and Array. An important gene associated with Acrofacial Dysostosis 1, Nager Type is SF3B4 (Splicing Factor 3b Subunit 4), and among its related pathways is mRNA Splicing - Minor Pathway. Affiliated tissues include bone, uterus and skin.

Disease Ontology:11 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:48 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:70 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 syndrome. more...

Related Diseases for Acrofacial Dysostosis 1, Nager Type

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



Diseases related to acrofacial dysostosis 1, nager type

Symptoms & Phenotypes for Acrofacial Dysostosis 1, Nager Type

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Symptoms by clinical synopsis from OMIM:

154400

Clinical features from OMIM:

154400

Human phenotypes related to Acrofacial Dysostosis 1, Nager Type:

 54 64 (show all 74)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 unilateral renal agenesis64 54 Occasional (29-5%) HP:0000122
2 wide mouth64 54 Frequent (79-30%) HP:0000154
3 abnormality of the palate54 Frequent (79-30%)
4 cleft palate64 54 Frequent (79-30%) HP:0000175
5 hypoplasia of the maxilla64 54 Very frequent (99-80%) HP:0000327
6 micrognathia64 54 Very frequent (99-80%) HP:0000347
7 hearing impairment64 54 Very frequent (99-80%) HP:0000365
8 low-set, posteriorly rotated ears64 54 Occasional (29-5%) HP:0000368
9 atresia of the external auditory canal64 54 Frequent (79-30%) HP:0000413
10 downslanted palpebral fissures64 54 Very frequent (99-80%) HP:0000494
11 ptosis64 54 Frequent (79-30%) HP:0000508
12 lower eyelid coloboma64 54 Frequent (79-30%) HP:0000652
13 delayed speech and language development64 54 Very frequent (99-80%) HP:0000750
14 triphalangeal thumb64 54 Occasional (29-5%) HP:0001199
15 joint stiffness64 54 Frequent (79-30%) HP:0001387
16 respiratory insufficiency64 54 Frequent (79-30%) HP:0002093
17 malformation of the heart and great vessels54 Occasional (29-5%)
18 skeletal dysplasia64 54 Very frequent (99-80%) HP:0002652
19 abnormality of the lower limb64 54 Occasional (29-5%) HP:0002814
20 hypoplasia of the radius64 54 Frequent (79-30%) HP:0002984
21 abnormal nasal morphology64 54 Frequent (79-30%) HP:0005105
22 aplasia/hypoplasia of the radius54 Frequent (79-30%)
23 sparse lower eyelashes64 54 Frequent (79-30%) HP:0007776
24 microtia64 54 Frequent (79-30%) HP:0008551
25 aplasia/hypoplasia of the thumb64 54 Very frequent (99-80%) HP:0009601
26 phocomelia64 54 Occasional (29-5%) HP:0009829
27 cheekbone underdevelopment54 Very frequent (99-80%)
28 non-midline cleft lip64 54 Occasional (29-5%) HP:0100335
29 aplasia/hypoplasia of the eyebrow64 54 Frequent (79-30%) HP:0100840
30 cleft upper lip64 HP:0000204
31 trismus64 HP:0000211
32 velopharyngeal insufficiency64 HP:0000220
33 hydrocephalus64 HP:0000238
34 microcephaly64 HP:0000252
35 malar flattening64 HP:0000272
36 retrognathia64 HP:0000278
37 posteriorly rotated ears64 HP:0000358
38 low-set ears64 HP:0000369
39 preauricular skin tag64 HP:0000384
40 conductive hearing impairment64 HP:0000405
41 prominent nasal bridge64 HP:0000426
42 bicornuate uterus64 HP:0000813
43 urticaria64 HP:0001025
44 limited elbow extension64 HP:0001377
45 gastroschisis64 HP:0001543
46 premature birth64 HP:0001622
47 ventricular septal defect64 HP:0001629
48 tetralogy of fallot64 HP:0001636
49 patent ductus arteriosus64 HP:0001643
50 talipes equinovarus64 HP:0001762
51 toe syndactyly64 HP:0001770
52 hallux valgus64 HP:0001822
53 short toe64 HP:0001831
54 overlapping toe64 HP:0001845
55 foot oligodactyly64 HP:0001849
56 polymicrogyria64 HP:0002126
57 aganglionic megacolon64 HP:0002251
58 aqueductal stenosis64 HP:0002410
59 scoliosis64 HP:0002650
60 hip dislocation64 HP:0002827
61 radioulnar synostosis64 HP:0002974
62 abnormality of the cervical spine64 HP:0003319
63 absent radius64 HP:0003974
64 short stature64 HP:0004322
65 hypoplasia of the epiglottis64 HP:0005349
66 hypoplasia of first ribs64 HP:0006657
67 laryngeal hypoplasia64 HP:0008749
68 radial deviation of finger64 HP:0009466
69 absent thumb64 HP:0009777
70 broad hallux64 HP:0010055
71 midface retrusion64 HP:0011800
72 clinodactyly64 HP:0030084
73 hypoplasia of the zygomatic bone64 HP:0010669
74 abnormality of cardiovascular system morphology64 HP:0030680

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

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 Syndrome27 24 SF3B4

Anatomical Context for Acrofacial Dysostosis 1, Nager Type

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

36
Bone, Uterus, Skin, Heart, Eye

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 23)
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.864delT (p.His288Glnfs)deletionPathogenicrs797045126GRCh37Chr 1, 149897777: 149897777
7SF3B4NM_ 005850.4(SF3B4): c.836_ 837insGGGTATG (p.Thr280Glyfs)insertionPathogenicrs797045127GRCh37Chr 1, 149897804: 149897805
8SF3B4NM_ 005850.4(SF3B4): c.827dupC (p.Ser277Ilefs)duplicationPathogenicrs797045128GRCh37Chr 1, 149897814: 149897814
9SF3B4NM_ 005850.4(SF3B4): c.796dupA (p.Met266Asnfs)duplicationPathogenicrs797045129GRCh37Chr 1, 149897845: 149897845
10SF3B4NM_ 005850.4(SF3B4): c.769delA (p.Ile257Tyrfs)deletionPathogenicrs797045130GRCh37Chr 1, 149897872: 149897872
11SF3B4NM_ 005850.4(SF3B4): c.661_ 664dupCCCA (p.Asn222Thrfs)duplicationPathogenicrs797045131GRCh37Chr 1, 149898310: 149898313
12SF3B4NM_ 005850.4(SF3B4): c.625C> T (p.Gln209Ter)SNVPathogenicrs797045132GRCh37Chr 1, 149898349: 149898349
13SF3B4NM_ 005850.4(SF3B4): c.452C> A (p.Ser151Ter)SNVPathogenicrs797045133GRCh37Chr 1, 149898522: 149898522
14SF3B4NM_ 005850.4(SF3B4): c.88delT (p.Trp30Glyfs)deletionPathogenicrs797045134GRCh37Chr 1, 149899133: 149899133
15SF3B4NM_ 005850.4(SF3B4): c.1230_ 1249del20 (p.Pro411Thrfs)deletionPathogenicrs797045954GRCh37Chr 1, 149895460: 149895479
16SF3B4NM_ 005850.4(SF3B4): c.193G> T (p.Glu65Ter)SNVPathogenicrs797045955GRCh37Chr 1, 149898781: 149898781
17SF3B4NM_ 005850.4(SF3B4): c.45_ 46delGT (p.Tyr16Argfs)deletionPathogenicrs797045956GRCh37Chr 1, 149899175: 149899176
18SF3B4NM_ 005850.4(SF3B4): c.731_ 743delCACCCCCAGTGCC (p.Pro244Hisfs)deletionPathogenicrs797045957GRCh38Chr 1, 149926006: 149926018
19SF3B4NM_ 005850.4(SF3B4): c.1A> G (p.Met1Val)SNVPathogenicrs387907185GRCh37Chr 1, 149899651: 149899651
20SF3B4NM_ 005850.4(SF3B4): c.1147dupC (p.His383Profs)duplicationPathogenicrs387907186GRCh37Chr 1, 149895562: 149895562
21SF3B4NM_ 005850.4(SF3B4): c.1147delC (p.His383Metfs)deletionPathogenicrs387907187GRCh37Chr 1, 149895562: 149895562
22SF3B4NM_ 005850.4(SF3B4): c.913+1G> ASNVPathogenicrs797045125GRCh37Chr 1, 149897727: 149897727
23SF3B4NM_ 005850.4(SF3B4): c.1006C> T (p.Arg336Ter)SNVPathogenicrs397515324GRCh37Chr 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 pathwaysScoreTop Affiliating Genes
19.4EFTUD2, SF3B4, TXNL4A

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
1spliceosomal complexGO:00056819.8EFTUD2, SF3B4, TXNL4A
2U4/U6 x U5 tri-snRNP complexGO:00465409.7EFTUD2, TXNL4A

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

idNameGO IDScoreTop Affiliating Genes
1mRNA processingGO:000639710.1EFTUD2, SF3B4, TXNL4A
2mRNA splicing, via spliceosomeGO:000039810.0EFTUD2, SF3B4, TXNL4A
3RNA splicing, via transesterification reactionsGO:00003759.8SF3B4, TXNL4A
4RNA splicingGO:00083809.8EFTUD2, SF3B4, TXNL4A

Sources for Acrofacial Dysostosis 1, Nager Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet