MCID: ACR058
MIFTS: 36

Acrofacial Dysostosis 1, Nager Type 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
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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

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 micrognathia, hearing impairment and downslanted palpebral fissures. An important gene associated with Acrofacial Dysostosis 1, Nager Type is SF3B4 (Splicing Factor 3b Subunit 4). 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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Diseases related to Acrofacial Dysostosis 1, Nager Type via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 12)
idRelated DiseaseScoreTop Affiliating Genes
1acrofacial dysostosis, palagonia type11.0
2acrofacial dysostosis10.8
3dysostosis10.8
4acrofacial dysostosis, catania type10.8
5tetralogy of fallot10.1
6polydactyly10.1
7ankylosis10.1
8cleft lip10.1
9venezuelan equine encephalitis9.7EFTUD2, TXNL4A
10intermittent squint9.7DHODH, EFTUD2, SF3B4
11mental retardation, autosomal recessive 469.4DHODH, EFTUD2, SF3B4, TXNL4A
12chromosomal deletion syndrome9.1ARSE, DHODH, EFTUD2, SF3B4, TXNL4A

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:

 64 54 (show all 77)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
2 hearing impairment64 54 hallmark (90%) Very frequent (99-80%) HP:0000365
3 downslanted palpebral fissures64 54 hallmark (90%) Very frequent (99-80%) HP:0000494
4 neurological speech impairment64 hallmark (90%) HP:0002167
5 skeletal dysplasia64 54 hallmark (90%) Very frequent (99-80%) HP:0002652
6 hypoplasia of the zygomatic bone64 hallmark (90%) HP:0010669
7 wide mouth64 54 typical (50%) Frequent (79-30%) HP:0000154
8 cleft palate64 54 typical (50%) Frequent (79-30%) HP:0000175
9 atresia of the external auditory canal64 54 typical (50%) Frequent (79-30%) HP:0000413
10 ptosis64 54 typical (50%) Frequent (79-30%) HP:0000508
11 cleft eyelid64 typical (50%) HP:0000625
12 limitation of joint mobility64 typical (50%) HP:0001376
13 respiratory insufficiency64 54 typical (50%) Frequent (79-30%) HP:0002093
14 radioulnar synostosis64 typical (50%) HP:0002974
15 abnormal nasal morphology64 54 typical (50%) Frequent (79-30%) HP:0005105
16 aplasia/hypoplasia of the radius64 54 typical (50%) Frequent (79-30%) HP:0006501
17 aplasia/hypoplasia of the eyebrow64 54 typical (50%) Frequent (79-30%) HP:0100840
18 low-set, posteriorly rotated ears64 54 occasional (7.5%) Occasional (29-5%) HP:0000368
19 triphalangeal thumb64 54 occasional (7.5%) Occasional (29-5%) HP:0001199
20 renal hypoplasia/aplasia64 occasional (7.5%) HP:0008678
21 phocomelia64 54 occasional (7.5%) Occasional (29-5%) HP:0009829
22 non-midline cleft lip64 54 occasional (7.5%) Occasional (29-5%) HP:0100335
23 ventricular septal defect64 rare (5%) HP:0001629
24 patent ductus arteriosus64 rare (5%) HP:0001643
25 unilateral renal agenesis64 54 Occasional (29-5%) HP:0000122
26 cleft upper lip64 HP:0000204
27 trismus64 HP:0000211
28 velopharyngeal insufficiency64 HP:0000220
29 hydrocephalus64 HP:0000238
30 microcephaly64 HP:0000252
31 malar flattening64 HP:0000272
32 retrognathia64 HP:0000278
33 posteriorly rotated ears64 HP:0000358
34 low-set ears64 HP:0000369
35 preauricular skin tag64 HP:0000384
36 conductive hearing impairment64 HP:0000405
37 prominent nasal bridge64 HP:0000426
38 lower eyelid coloboma64 54 Frequent (79-30%) HP:0000652
39 delayed speech and language development64 54 Very frequent (99-80%) HP:0000750
40 bicornuate uterus64 HP:0000813
41 urticaria64 HP:0001025
42 limited elbow extension64 HP:0001377
43 gastroschisis64 HP:0001543
44 premature birth64 HP:0001622
45 tetralogy of fallot64 HP:0001636
46 talipes equinovarus64 HP:0001762
47 toe syndactyly64 HP:0001770
48 hallux valgus64 HP:0001822
49 short toe64 HP:0001831
50 overlapping toe64 HP:0001845
51 foot oligodactyly64 HP:0001849
52 polymicrogyria64 HP:0002126
53 aganglionic megacolon64 HP:0002251
54 aqueductal stenosis64 HP:0002410
55 scoliosis64 HP:0002650
56 hip dislocation64 HP:0002827
57 hypoplasia of the radius64 54 Frequent (79-30%) HP:0002984
58 abnormality of the cervical spine64 HP:0003319
59 absent radius64 HP:0003974
60 short stature64 HP:0004322
61 hypoplasia of the epiglottis64 HP:0005349
62 hypoplasia of first ribs64 HP:0006657
63 sparse lower eyelashes64 54 Frequent (79-30%) HP:0007776
64 laryngeal hypoplasia64 HP:0008749
65 radial deviation of finger64 HP:0009466
66 aplasia/hypoplasia of the thumb64 54 Very frequent (99-80%) HP:0009601
67 absent thumb64 HP:0009777
68 broad hallux64 HP:0010055
69 midface retrusion64 HP:0011800
70 clinodactyly64 HP:0030084
71 abnormality of the palate54 Frequent (79-30%)
72 hypoplasia of the maxilla54 Very frequent (99-80%)
73 joint stiffness54 Frequent (79-30%)
74 malformation of the heart and great vessels54 Occasional (29-5%)
75 abnormality of the lower limb54 Occasional (29-5%)
76 microtia54 Frequent (79-30%)
77 cheekbone underdevelopment54 Very frequent (99-80%)

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)duplicationPathogenicrs797045128GRCh38Chr 1, 149925922: 149925922
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)deletionPathogenicrs797045954GRCh38Chr 1, 149923568: 149923587
16SF3B4NM_005850.4(SF3B4): c.193G> T (p.Glu65Ter)SNVPathogenicrs797045955GRCh38Chr 1, 149926889: 149926889
17SF3B4NM_005850.4(SF3B4): c.45_46delGT (p.Tyr16Argfs)deletionPathogenicrs797045956GRCh38Chr 1, 149927283: 149927284
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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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:00056819.4EFTUD2, SF3B4, 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:00003759.8SF3B4, TXNL4A
2mRNA splicing, via spliceosomeGO:00003989.8EFTUD2, 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