AFD1
MCID: NGR001
MIFTS: 34

Nager Acrofacial Dysostosis (AFD1) malady

Eye diseases, Bone diseases, Fetal diseases categories

Summaries for Nager Acrofacial Dysostosis

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Sources:
42NIH Rare Diseases, 21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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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: Nager Acrofacial Dysostosis, also known as nager syndrome, is related to vacterl association and coloboma, 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 SF3B4 (splicing factor 3b, subunit 4, 49kDa). 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:63 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, 21Genetics Home Reference, 48Orphanet, 46OMIM, 20GeneTests, 22GTR, 35MESH via Orphanet, 26ICD10 via Orphanet, 57SNOMED-CT via Orphanet, 61UMLS via Orphanet, 25ICD10
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Eye diseases, Bone diseases


Characteristics (Orphanet epidemiological data):

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


Aliases & Descriptions:

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
nafd 21 48
mandibulofacial dysostosis, treacher collins type, with limb anomalies 42
mandibulofacial dysostosis with preaxial limb anomalies 48
preaxial mandibulofacial dysostosis 21
preaxial acrofacial dysostosis 21
preaxial acrodysostosis 48
afd, nager type 42
afd1 21


External Ids:

OMIM46 154400
MESH via Orphanet35 C538184
ICD10 via Orphanet26 Q75.4
SNOMED-CT via Orphanet57 35520007
UMLS via Orphanet61 C0265245
ICD1025 Q75.4

Related Diseases for Nager Acrofacial Dysostosis

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Sources:
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
1vacterl association10.4
2coloboma10.4
3tetralogy of fallot10.4
4ankylosis10.1
5urticaria pigmentosa10.1
6urticaria10.1

Graphical network of diseases related to Nager Acrofacial Dysostosis:



Diseases related to nager acrofacial dysostosis

Clinical Features for Nager Acrofacial Dysostosis

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46OMIM, 48Orphanet
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Clinical features from OMIM:

154400

Clinical synopsis from OMIM:

154400

Symptoms:

48 (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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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Search CenterWatch 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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32MalaCards
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MalaCards organs/tissues related to Nager Acrofacial Dysostosis:

32
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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Genetic Variations for Nager Acrofacial Dysostosis

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Expression for genes affiliated with Nager Acrofacial Dysostosis

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Sources:
1BioGPS, 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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  • Antibodies

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
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet