MCID: ACR058
MIFTS: 32

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:
45OMIM, 10diseasecard, 41NIH Rare Diseases, 20GeneTests, 21Genetics Home Reference, 47Orphanet, 22GTR, 34MESH via Orphanet, 26ICD10 via Orphanet, 61UMLS via Orphanet
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Acrofacial Dysostosis 1, Nager Type, Aliases & Descriptions:

Name: Acrofacial Dysostosis 1, Nager Type 45 10 41 21
Nager Syndrome 41 20 21 47 22
Nager Acrofacial Dysostosis 41 21 47
Nafd 41 21 47
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 41 47
Nager Acrofacial Dysostosis Syndrome 41 21
Preaxial Acrofacial Dysostosis 41 21
 
Preaxial Acrodysostosis 41 47
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 41
Split Hand Deformity-Mandibulofacial Dysostosis 41
Preaxial Mandibulofacial Dysostosis 21
Afd, Nager Type 41
Afd1 21


Classifications:



Characteristics (Orphanet epidemiological data):

47
nager syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Not applicable; Age of onset: Antenatal,Neonatal; Age of death: normal life expectancy


External Ids:

OMIM45 154400
Orphanet47 245
MESH via Orphanet34 C538184
ICD10 via Orphanet26 Q75.4
UMLS via Orphanet61 C0265245

Summaries for Acrofacial Dysostosis 1, Nager Type

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OMIM:45 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). Affiliated tissues include bone, eye and heart.

Genetics Home Reference:21 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:41 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

Wikipedia:63 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:

idRelated DiseaseScoreTop Affiliating Genes
1dysostosis11.1
2tetralogy of fallot10.4
3polydactyly10.4
4cleft lip10.4
5coloboma10.4
6ankylosis10.1
7urticaria pigmentosa10.1
8congenital diaphragmatic hernia10.1
9urticaria10.1

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:

 47 (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 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 aplasia/hypoplasia of the thumb hallmark (90%) HP:0009601
7 cheekbone underdevelopment hallmark (90%) HP:0010669
8 wide mouth typical (50%) HP:0000154
9 cleft palate typical (50%) HP:0000175
10 atresia of the external auditory canal typical (50%) HP:0000413
11 ptosis typical (50%) HP:0000508
12 cleft eyelid typical (50%) HP:0000625
13 limitation of joint mobility typical (50%) HP:0001376
14 respiratory insufficiency typical (50%) HP:0002093
15 radioulnar synostosis typical (50%) HP:0002974
16 abnormal nasal morphology typical (50%) HP:0005105
17 aplasia/hypoplasia of the radius typical (50%) HP:0006501
18 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
19 low-set, posteriorly rotated ears occasional (7.5%) HP:0000368
20 triphalangeal thumb occasional (7.5%) HP:0001199
21 malformation of the heart and great vessels occasional (7.5%) HP:0002564
22 abnormality of the lower limb occasional (7.5%) HP:0002814
23 renal hypoplasia/aplasia occasional (7.5%) HP:0008678
24 phocomelia occasional (7.5%) HP:0009829
25 non-midline cleft lip occasional (7.5%) HP:0100335
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 micrognathia HP:0000347
37 posteriorly rotated ears HP:0000358
38 low-set ears HP:0000369
39 preauricular skin tag HP:0000384
40 conductive hearing impairment HP:0000405
41 atresia of the external auditory canal HP:0000413
42 prominent nasal bridge HP:0000426
43 downslanted palpebral fissures HP:0000494
44 lower eyelid coloboma HP:0000652
45 delayed speech and language development HP:0000750
46 bicornuate uterus HP:0000813
47 urticaria HP:0001025
48 triphalangeal thumb HP:0001199
49 limited elbow extension HP:0001377
50 gastroschisis HP:0001543
51 premature birth HP:0001622
52 tetralogy of fallot HP:0001636
53 talipes equinovarus HP:0001762
54 toe syndactyly HP:0001770
55 hallux valgus HP:0001822
56 short toe HP:0001831
57 overlapping toe HP:0001845
58 oligodactyly (feet) HP:0001849
59 polymicrogyria HP:0002126
60 aganglionic megacolon HP:0002251
61 aqueductal stenosis HP:0002410
62 scoliosis HP:0002650
63 hip dislocation HP:0002827
64 radioulnar synostosis HP:0002974
65 hypoplasia of the radius HP:0002984
66 abnormality of the cervical spine HP:0003319
67 absent radius HP:0003974
68 short stature HP:0004322
69 hypoplasia of the epiglottis HP:0005349
70 hypoplasia of first ribs HP:0006657
71 sparse lower eyelashes HP:0007776
72 laryngeal hypoplasia HP:0008749
73 radial deviation of finger HP:0009466
74 aplasia/hypoplasia of the thumb HP:0009601
75 absent thumb HP:0009777
76 broad hallux HP:0010055
77 clinodactyly HP:0030084

Drugs & Therapeutics for Acrofacial Dysostosis 1, Nager Type

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Drug clinical trials:

Search ClinicalTrials for Acrofacial Dysostosis 1, Nager Type

Search 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 Syndrome20 22 SF3B4

Anatomical Context for Acrofacial Dysostosis 1, Nager Type

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

31
Bone, Eye, Heart, Kidney, Lung, Skin, Uterus

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:

6
id Gene Variation Type Significance SNP ID Assembly Location
1SF3B4NM_005850.4(SF3B4): c.1A> G (p.Met1Val)single nucleotide variantPathogenicrs387907185GRCh37Chr 1, 149899651: 149899651
2SF3B4NM_005850.4(SF3B4): c.1147dupC (p.His383Profs)duplicationPathogenicrs387907186GRCh37Chr 1, 149895561: 149895562
3SF3B4NM_005850.4(SF3B4): c.1147delC (p.His383Metfs)deletionPathogenicrs387907187GRCh37Chr 1, 149895562: 149895562
4SF3B4SF3B4, IVS4, G-A, +1single nucleotide variantPathogenic
5SF3B4NM_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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Compounds 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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Products for genes affiliated with Acrofacial Dysostosis 1, Nager Type

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  • Proteins
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Sources for Acrofacial Dysostosis 1, Nager Type

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet