AFD1
MCID: NGR001
MIFTS: 40

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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Sources:
21Genetics Home Reference, 43NIH Rare Diseases, 65Wikipedia, 47OMIM, 33MalaCards
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NIH Rare Diseases:43 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: Nager Acrofacial Dysostosis, also known as nager syndrome, is related to dysostosis and polydactyly, and has symptoms including restricted joint mobility/joint stiffness/ankylosis, respiratory distress/dyspnea/respiratory failure/lung volume reduction and radioulnar synostosis. An important gene associated with Nager Acrofacial Dysostosis is AFD1 (acrofacial dysostosis 1, Nager type). Affiliated tissues include bone, lung 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:47 154400

Aliases & Classifications for Nager Acrofacial Dysostosis

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43NIH Rare Diseases, 21Genetics Home Reference, 49Orphanet, 47OMIM, 20GeneTests, 22GTR, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet, 25ICD10
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Classifications:



Characteristics (Orphanet epidemiological data):

49
nager syndrome:
Inheritance: Autosomal dominant,Autosomal recessive,Sporadic; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

nager acrofacial dysostosis 43 21 49
nager syndrome 43 20 22 21 49
acrofacial dysostosis 1, nager type 43 21 47
nager acrofacial dysostosis syndrome 43 21
preaxial acrofacial dysostosis 43 21
nafd 21 49
mandibulofacial dysostosis, treacher collins type, with limb anomalies 43
mandibulofacial dysostosis with preaxial limb anomalies 49
split hand deformity-mandibulofacial dysostosis 43
preaxial mandibulofacial dysostosis 21
preaxial acrodysostosis 49
afd, nager type 43
afd1 21


External Ids:

OMIM47 154400
MESH via Orphanet36 C538184
ICD10 via Orphanet26 Q75.4
SNOMED-CT via Orphanet59 35520007
UMLS via Orphanet63 C0265245
ICD1025 Q75.4

Related Diseases for Nager Acrofacial Dysostosis

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17GeneCards, 18GeneDecks
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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
3cleft lip10.4
4tetralogy of fallot10.4
5coloboma10.4
6ankylosis10.1
7urticaria pigmentosa10.1
8urticaria10.1

Graphical network of diseases related to Nager Acrofacial Dysostosis:



Diseases related to nager acrofacial dysostosis

Symptoms for Nager Acrofacial Dysostosis

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47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

154400

Clinical features from OMIM:

154400

Symptoms:

49 (show all 30)
  • restricted joint mobility/joint stiffness/ankylosis
  • respiratory distress/dyspnea/respiratory failure/lung volume reduction
  • radioulnar synostosis
  • radius anomaly/absence/agenesis/hypoplasia/abnormal radial ray
  • external auditory canal atresia/stenosis/agenesis
  • 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
  • microtia/cryptomicrotia/anotia/external auditory canal/pinnae aplasia/hypoplasia
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • 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
  • downslanted palpebral fissures/anti-mongoloid slanting palpebral fissures

Drugs & Therapeutics for Nager Acrofacial Dysostosis

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42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Nager Acrofacial Dysostosis

Search NIH Clinical Center for Nager Acrofacial Dysostosis

Genetic Tests for Nager Acrofacial Dysostosis

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20GeneTests, 22GTR
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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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33MalaCards
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MalaCards organs/tissues related to Nager Acrofacial Dysostosis:

33
Bone, Lung, Kidney, Eye

Animal Models for Nager Acrofacial Dysostosis or affiliated genes

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Publications for Nager Acrofacial Dysostosis

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52PubMed
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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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1 National Center for Biotechnology Information (Clinvar)
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Clinvar genetic disease variations for Nager Acrofacial Dysostosis:

1
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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2BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Nager Acrofacial Dysostosis

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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
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Sources for Nager Acrofacial Dysostosis

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4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet