MCID: ACR058
MIFTS: 39

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:
50OMIM, 11Disease Ontology, 46NIH Rare Diseases, 23GeneTests, 24Genetics Home Reference, 13DISEASES, 52Orphanet, 68UniProtKB/Swiss-Prot, 25GTR, 12diseasecard, 66UMLS, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 37MeSH, 62The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Acrofacial Dysostosis 1, Nager Type:

Name: Acrofacial Dysostosis 1, Nager Type 50 11 46 23 24 68 12
Nager Syndrome 11 46 23 24 52 68 25 66
Nager Acrofacial Dysostosis 11 46 23 24 13 52 68
Preaxial Acrofacial Dysostosis 11 46 24
Afd1 23 24 68
Nager Acrofacial Dysostosis Syndrome 46 24
Nafd 24 52
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 46
Mandibulofacial Dysostosis Treacher Collins Type with Limb Anomalies 68
 
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 52
Split Hand Deformity-Mandibulofacial Dysostosis 46
Preaxial Mandibulofacial Dysostosis 24
Preaxial Manibulofacial Dysostosis 11
Acrofacial Dysostosis 1 23
Preaxial Acrodysostosis 52
Afd, Nager Type 46
Afd Nager Type 68
Afd 11

Characteristics:

Orphanet epidemiological data:

52
nager syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy

HPO:

62
acrofacial dysostosis 1, nager type:
Inheritance: autosomal dominant inheritance


Classifications:



External Ids:

OMIM50 154400
Disease Ontology11 DOID:5768
NCIt43 C35795
Orphanet52 ORPHA245
ICD10 via Orphanet29 Q75.4
MESH via Orphanet38 C538184
UMLS via Orphanet67 C0265245
MedGen35 C0265245
MeSH37 D008342

Summaries for Acrofacial Dysostosis 1, Nager Type

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OMIM:50 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:24 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:46 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:68 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:69 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 for Acrofacial Dysostosis 1, Nager Type

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Symptoms by clinical synopsis from OMIM:

154400

Clinical features from OMIM:

154400

Symptoms:

 52 (show all 29)
  • unilateral renal agenesis
  • wide mouth
  • abnormality of the palate
  • cleft palate
  • hypoplasia of the maxilla
  • micrognathia
  • hearing impairment
  • low-set, posteriorly rotated ears
  • atresia of the external auditory canal
  • downslanted palpebral fissures
  • ptosis
  • lower eyelid coloboma
  • delayed speech and language development
  • triphalangeal thumb
  • joint stiffness
  • respiratory insufficiency
  • malformation of the heart and great vessels
  • skeletal dysplasia
  • abnormality of the lower limb
  • hypoplasia of the radius
  • abnormal nasal morphology
  • aplasia/hypoplasia of the radius
  • sparse lower eyelashes
  • microtia
  • aplasia/hypoplasia of the thumb
  • phocomelia
  • cheekbone underdevelopment
  • non-midline cleft lip
  • aplasia/hypoplasia of the eyebrow

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

(show all 77)
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 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
21 phocomelia occasional (7.5%) HP:0009829
22 non-midline cleft lip occasional (7.5%) HP:0100335
23 ventricular septal defect rare (5%) HP:0001629
24 patent ductus arteriosus rare (5%) HP:0001643
25 unilateral renal agenesis HP:0000122
26 wide mouth HP:0000154
27 cleft palate HP:0000175
28 cleft upper lip HP:0000204
29 trismus HP:0000211
30 velopharyngeal insufficiency HP:0000220
31 hydrocephalus HP:0000238
32 microcephaly HP:0000252
33 malar flattening HP:0000272
34 retrognathia HP:0000278
35 micrognathia HP:0000347
36 posteriorly rotated ears HP:0000358
37 low-set ears HP:0000369
38 preauricular skin tag HP:0000384
39 conductive hearing impairment HP:0000405
40 atresia of the external auditory canal HP:0000413
41 prominent nasal bridge HP:0000426
42 downslanted palpebral fissures HP:0000494
43 lower eyelid coloboma HP:0000652
44 delayed speech and language development HP:0000750
45 bicornuate uterus HP:0000813
46 urticaria HP:0001025
47 triphalangeal thumb HP:0001199
48 limited elbow extension HP:0001377
49 gastroschisis HP:0001543
50 premature birth HP:0001622
51 tetralogy of fallot HP:0001636
52 talipes equinovarus HP:0001762
53 toe syndactyly HP:0001770
54 hallux valgus HP:0001822
55 short toe HP:0001831
56 overlapping toe HP:0001845
57 foot oligodactyly HP:0001849
58 polymicrogyria HP:0002126
59 aganglionic megacolon HP:0002251
60 aqueductal stenosis HP:0002410
61 scoliosis HP:0002650
62 hip dislocation HP:0002827
63 radioulnar synostosis HP:0002974
64 hypoplasia of the radius HP:0002984
65 abnormality of the cervical spine HP:0003319
66 absent radius HP:0003974
67 short stature HP:0004322
68 hypoplasia of the epiglottis HP:0005349
69 hypoplasia of first ribs HP:0006657
70 sparse lower eyelashes HP:0007776
71 laryngeal hypoplasia HP:0008749
72 radial deviation of finger HP:0009466
73 aplasia/hypoplasia of the thumb HP:0009601
74 absent thumb HP:0009777
75 broad hallux HP:0010055
76 midface retrusion HP:0011800
77 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

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 Syndrome25 23 SF3B4

Anatomical Context for Acrofacial Dysostosis 1, Nager Type

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

34
Bone, Uterus, Skin, Heart, Eye

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

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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)single nucleotide variantPathogenicrs797045132GRCh37Chr 1, 149898349: 149898349
13SF3B4NM_005850.4(SF3B4): c.452C> A (p.Ser151Ter)single nucleotide variantPathogenicrs797045133GRCh37Chr 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)single nucleotide variantPathogenicrs797045955GRCh37Chr 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)single nucleotide variantPathogenicrs387907185GRCh37Chr 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> Asingle nucleotide variantPathogenicrs797045125GRCh37Chr 1, 149897727: 149897727
23SF3B4NM_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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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:00056819.6EFTUD2, 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:000037510.2SF3B4, TXNL4A
2mRNA splicing, via spliceosomeGO:00003989.6EFTUD2, SF3B4, TXNL4A

Sources for Acrofacial Dysostosis 1, Nager Type

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet