AFD1
MCID: NGR001
MIFTS: 41

Nager Acrofacial Dysostosis (AFD1) malady

Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases categories
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Summaries for Nager Acrofacial Dysostosis

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NIH Rare Diseases:42 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

MalaCards based summary: Nager Acrofacial Dysostosis, also known as nager syndrome, is related to dysostosis and polydactyly, and has symptoms including downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures, flat cheek bones/malar hypoplasia and hypoplastic maxillary bones/zygomatic bones/maxillary hypoplasia. An important gene associated with Nager Acrofacial Dysostosis is AFD1 (acrofacial dysostosis 1, Nager type). Affiliated tissues include bone, eye and kidney.

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.

Wikipedia:65 Nager acrofacial dysostosis is a congenital anomaly syndrome. more...

Description from OMIM:46 154400

Aliases & Classifications for Nager Acrofacial Dysostosis

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 48Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet, 63UMLS via Orphanet, 25ICD10
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Nager Acrofacial Dysostosis, Aliases & Descriptions:

Name: Nager Acrofacial Dysostosis 42 21 48
Nager Syndrome 42 20 22 21 48
Acrofacial Dysostosis 1, Nager Type 42 21 46
Nager Acrofacial Dysostosis Syndrome 42 21
Preaxial Acrofacial Dysostosis 42 21
Nafd 21 48
Mandibulofacial Dysostosis, Treacher Collins Type, with Limb Anomalies 42
 
Mandibulofacial Dysostosis with Preaxial Limb Anomalies 48
Split Hand Deformity-Mandibulofacial Dysostosis 42
Preaxial Mandibulofacial Dysostosis 21
Preaxial Acrodysostosis 48
Afd, Nager Type 42
Afd1 21


Classifications:



Characteristics (Orphanet epidemiological data):

48
nager syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy; Age of death: Normal


External Ids:

OMIM46 154400
MESH via Orphanet35 C538184
ICD10 via Orphanet26 Q75.4
UMLS via Orphanet63 C0265245
ICD1025 Q75.4

Related Diseases for Nager Acrofacial Dysostosis

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Diseases related to Nager Acrofacial Dysostosis via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

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

Graphical network of diseases related to Nager Acrofacial Dysostosis:



Diseases related to nager acrofacial dysostosis

Symptoms for Nager Acrofacial Dysostosis

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Symptoms by clinical synopsis from OMIM:

154400

Clinical features from OMIM:

154400

Symptoms:

48 (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 Nager Acrofacial Dysostosis:

(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 Nager Acrofacial Dysostosis

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Drug clinical trials:

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Search NIH Clinical Center for Nager Acrofacial Dysostosis

Genetic Tests for Nager Acrofacial Dysostosis

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Genetic tests related to Nager Acrofacial Dysostosis:

id Genetic test Affiliating Genes
1 Nager Syndrome20 22 SF3B4

Anatomical Context for Nager Acrofacial Dysostosis

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MalaCards organs/tissues related to Nager Acrofacial Dysostosis:

32
Bone, Eye, Kidney, Lung

Animal Models for Nager Acrofacial Dysostosis or affiliated genes

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Publications for Nager Acrofacial Dysostosis

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Articles related to Nager Acrofacial Dysostosis:

(show all 24)
idTitleAuthorsYear
1
Limbal dermoid in Nager acrofacial dysostosis: A rare case report. (23619496)
2013
2
A case report: nager acrofacial dysostosis. (24303385)
2012
3
Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement. (18821720)
2008
4
Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. (16877861)
2006
5
Otologic and audiologic features of Nager acrofacial dysostosis. (16005346)
2005
6
Nager acrofacial dysostosis with autosomal dominant inheritance: implications for the otolaryngologist. (10964304)
2000
7
A nager acrofacial dysostosis syndrome patient with severe respiratory distress syndrome (RDS). (12503193)
1997
8
Child with manifestations of Nager acrofacial dysostosis, and the MURCS, VACTERL, and pulmonary agenesis associations: complex defect of blastogenesis? (8779315)
1996
9
Nager acrofacial dysostosis. An adult male with severe neurological deficit. (8831135)
1996
10
Nager acrofacial dysostosis: management of a difficult airway. (8882111)
1996
11
Nager acrofacial dysostosis. (8411075)
1993
12
Nager acrofacial dysostosis and preaxial polydactyly: a further example with lethal outcome. (8357565)
1993
13
Nager acrofacial dysostosis: minor familial manifestations supporting dominant inheritance. (8500258)
1993
14
Nager acrofacial dysostosis: male-to-male transmission in 2 families. (1951468)
1991
15
Nager acrofacial dysostosis: autosomal dominant inheritance in mild to moderately affected mother and lethally affected phocomelic son. (2801774)
1989
16
Sonography of Nager acrofacial dysostosis syndrome in utero. (3280827)
1988
17
Autosomal recessive inheritance of Nager acrofacial dysostosis. (3367347)
1988
18
Nager acrofacial dysostosis: evidence for apparent heterogeneity. (3189396)
1988
19
Nager acrofacial dysostosis with cleft lip. (3437268)
1987
20
Anomalies in an infant with Nager acrofacial dysostosis. (4025401)
1985
21
The Nager acrofacial dysostosis syndrome with the tetralogy of Fallot. (4078872)
1985
22
Differential diagnosis of Nager acrofacial dysostosis syndrome: report of four patients with Nager syndrome and discussion of other related syndromes. (6837625)
1983
23
Nager acrofacial dysostosis: early intervention and long-term planning. (401476)
1977
24
Nager acrofacial dysostosis: report of a case. (874672)
1977

Variations for Nager Acrofacial Dysostosis

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Clinvar genetic disease variations for Nager Acrofacial Dysostosis:

6
id Gene Name 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 Nager Acrofacial Dysostosis

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Expression patterns in normal tissues for genes affiliated with Nager Acrofacial Dysostosis

Search GEO for disease gene expression data for Nager Acrofacial Dysostosis.

Pathways for genes affiliated with Nager Acrofacial Dysostosis

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Compounds for genes affiliated with Nager Acrofacial Dysostosis

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GO Terms for genes affiliated with Nager Acrofacial Dysostosis

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Products for genes affiliated with Nager Acrofacial Dysostosis

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  • Antibodies
  • Proteins
  • Lysates

Sources for Nager Acrofacial Dysostosis

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet