MCID: ACR017
MIFTS: 31

Acrofacial Dysostosis

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrofacial Dysostosis

MalaCards integrated aliases for Acrofacial Dysostosis:

Name: Acrofacial Dysostosis 12 58 36 15 71

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060379
KEGG 36 H01376
Orphanet 58 ORPHA364574
UMLS 71 C1332140

Summaries for Acrofacial Dysostosis

KEGG : 36 Acrofacial dysostosis (AFD) is a heterogeneous group of disorders combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. The predominantly preaxial form is called Nager AFD, the predominantly postaxial form of AFD (POADS) is also known as the Genee-Wiedemann or Miller syndrome. Among several AFDs, causative mutations have recently been identified in an enzyme involved in pyrimidine biosynthesis in association with Miller syndrome, and in a component of the pre-mRNA spliceosomal complex with respect to Nager syndrome.

MalaCards based summary : Acrofacial Dysostosis is related to acrofacial dysostosis, cincinnati type and postaxial acrofacial dysostosis. An important gene associated with Acrofacial Dysostosis is POLR1A (RNA Polymerase I Subunit A), and among its related pathways/superpathways are Pyrimidine metabolism and Spliceosome. Affiliated tissues include bone, and related phenotypes are Decreased influenza A virus infection and Decreased influenza A virus infection

Disease Ontology : 12 A hetergeneous dysostosis that is characterized by digital dysplasia, downslanted palpebral fissures, deafness and developmental delay, has material basis in mutation to the SF3B4 gene.

Related Diseases for Acrofacial Dysostosis

Diseases related to Acrofacial Dysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 101)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis, cincinnati type 34.8 POLR1D POLR1A
2 postaxial acrofacial dysostosis 34.7 SF3B4 POLR1D EFTUD2 DHODH
3 acrofacial dysostosis 1, nager type 33.0 UNC13B TXNL4A SF3B4 POLR1D ODR4 GRB2
4 dysostosis 31.0 TSC2 SF3B4 POLR1A PKD1 H2AC18 EVC2
5 cleft palate, isolated 30.8 SF3B4 POLR1D H2AC18 EVC2 EFTUD2
6 burn-mckeown syndrome 30.7 TXNL4A POLR1A
7 mandibulofacial dysostosis, guion-almeida type 30.6 TXNL4A SF3B4 POLR1D EFTUD2
8 treacher collins syndrome 1 30.6 TXNL4A SF3B4 POLR1D POLR1A EFTUD2 CFAP47
9 atrial heart septal defect 30.6 EVC2 EVC CFAP47 ARSL
10 weyers acrofacial dysostosis 13.0
11 acrofacial dysostosis syndrome of rodriguez 12.9
12 acrofacial dysostosis, catania type 12.9
13 acrofacial dysostosis, palagonia type 12.9
14 acrofacial dysostosis, patagonia type 12.7
15 acrofacial dysostosis preis type 12.4
16 acrofacial dysostosis, kennedy-teebi type 12.4
17 ellis-van creveld syndrome 11.9
18 robin sequence with cleft mandible and limb anomalies 11.8
19 cleft lip 10.5
20 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.5
21 phocomelia 10.5
22 isolated pierre robin sequence 10.5
23 microtia 10.5
24 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.4 TSC2 PKD1
25 microcephaly 10.4
26 clubfoot 10.4
27 synostosis 10.4
28 sweeney-cox syndrome 10.4 POLR1A CFAP47
29 coloboma of macula 10.3
30 pierre robin syndrome and oligodactyly 10.3
31 tetralogy of fallot 10.3
32 renal hypodysplasia/aplasia 1 10.3
33 preaxial hallucal polydactyly 10.3
34 branchiootic syndrome 1 10.3
35 polydactyly 10.3
36 brachydactyly 10.3
37 ptosis 10.3
38 hydrocephalus 10.3
39 respiratory failure 10.3
40 radioulnar synostosis 10.3
41 cleft lip/palate 10.3
42 anodontia 10.3 EVC2 EVC
43 oculoauricular syndrome 10.3 EVC2 EVC
44 cerebrocostomandibular syndrome 10.2 TXNL4A SF3B4 EFTUD2
45 choanal atresia, posterior 10.2 TXNL4A EFTUD2 CFAP47
46 bone development disease 10.2 H2AC18 EVC2 EVC CFAP47
47 atrial standstill 1 10.2
48 clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly 10.2
49 duane retraction syndrome 1 10.2
50 frontonasal dysplasia 1 10.2

Graphical network of the top 20 diseases related to Acrofacial Dysostosis:



Diseases related to Acrofacial Dysostosis

Symptoms & Phenotypes for Acrofacial Dysostosis

GenomeRNAi Phenotypes related to Acrofacial Dysostosis according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased influenza A virus infection GR00147-A-1 9.23 AQR CFAP47 EFTUD2 EVC2
2 Decreased influenza A virus infection GR00147-A-2 9.23 AQR CFAP47 EFTUD2 EVC2

Drugs & Therapeutics for Acrofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Acrofacial Dysostosis

Genetic Tests for Acrofacial Dysostosis

Anatomical Context for Acrofacial Dysostosis

MalaCards organs/tissues related to Acrofacial Dysostosis:

40
Bone

Publications for Acrofacial Dysostosis

Articles related to Acrofacial Dysostosis:

(show top 50) (show all 173)
# Title Authors PMID Year
1
Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations). 61
32217860 2020
2
Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome. 61
32537850 2020
3
Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse. 61
31900962 2020
4
Erosive pustular dermatosis of the scalp in an adolescent with near-total hair regrowth: Case report and review of the literature. 61
31355463 2019
5
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 61
30924273 2019
6
Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment. 61
30970347 2019
7
Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome. 61
29863549 2018
8
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type. 61
29750247 2018
9
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. 61
29112243 2018
10
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. 61
29922329 2018
11
Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review. 61
28688869 2017
12
Role of Primary Cilia in Odontogenesis. 61
28605602 2017
13
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. 61
28186364 2017
14
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 61
27966544 2017
15
Mitochondrial nucleic acid binding proteins associated with diseases. 61
27814609 2017
16
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. 61
27642715 2016
17
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. 61
27935951 2016
18
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. 61
27370710 2016
19
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. 61
27622494 2016
20
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. 61
27590395 2016
21
The Craniofacial and Upper Limb Management of Nager Syndrome. 61
27171953 2016
22
Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction. 61
27144155 2016
23
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. 61
26621368 2016
24
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray. 61
26679067 2016
25
Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl. 61
26701993 2015
26
A review of craniofacial disorders caused by spliceosomal defects. 61
25865758 2015
27
[Nager syndrome associated with tetralogy of Fallot: A frequent association?]. 61
26228803 2015
28
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. 61
25913037 2015
29
Dental Management of a Patient with Nager Acrofacial Dysostosis. 61
26527228 2015
30
Management of soft palate agenesis in Nager syndrome with an elongated, superiorly based pharyngeal flap. 61
25397380 2014
31
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 61
24003905 2014
32
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. 61
25337072 2014
33
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? 61
24715698 2014
34
Limbal dermoid in Nager acrofacial dysostosis: a rare case report. 61
23619496 2014
35
Orodental findings in postaxial acrofacial dysostosis. 61
24959059 2014
36
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. 61
24360810 2014
37
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. 61
23913624 2013
38
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. 61
23568615 2013
39
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. 61
23879989 2013
40
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 61
23220543 2013
41
Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction. 61
23216091 2013
42
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. 61
23653874 2013
43
Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients. 61
22967083 2012
44
Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation. 61
27279120 2012
45
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. 61
22692683 2012
46
Ciliary disorder of the skeleton. 61
22791528 2012
47
Nager syndrome: a case report. 61
22503264 2012
48
A case report: nager acrofacial dysostosis. 61
24303385 2012
49
Report of Two Siblings with Overlapping Features of Ellis-van Creveld and Weyers Acrodental Dysostosis. 61
22616035 2012
50
Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family. 61
21815252 2011

Variations for Acrofacial Dysostosis

Expression for Acrofacial Dysostosis

Search GEO for disease gene expression data for Acrofacial Dysostosis.

Pathways for Acrofacial Dysostosis

Pathways related to Acrofacial Dysostosis according to KEGG:

36
# Name Kegg Source Accession
1 Pyrimidine metabolism hsa00240
2 Spliceosome hsa03040

Pathways related to Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.6 POLR1D POLR1A
2 10.52 TXNL4A SF3B4 EFTUD2
3 10.3 TSC2 GRB2
4 9.96 POLR1D POLR1A

GO Terms for Acrofacial Dysostosis

Cellular components related to Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ciliary membrane GO:0060170 9.33 PKD1 EVC2 EVC
2 RNA polymerase I complex GO:0005736 9.32 POLR1D POLR1A
3 plasma membrane protein complex GO:0098797 9.26 EVC2 EVC
4 U2-type precatalytic spliceosome GO:0071005 9.13 TXNL4A SF3B4 EFTUD2
5 spliceosomal complex GO:0005681 8.92 TXNL4A SF3B4 EFTUD2 AQR

Biological processes related to Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.26 TXNL4A SF3B4 EFTUD2 AQR
2 RNA splicing, via transesterification reactions GO:0000375 9.16 TXNL4A SF3B4
3 mRNA splicing, via spliceosome GO:0000398 8.92 TXNL4A SF3B4 EFTUD2 AQR

Molecular functions related to Acrofacial Dysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 sulfuric ester hydrolase activity GO:0008484 8.96 ARSL ARSJ
2 arylsulfatase activity GO:0004065 8.62 ARSL ARSJ

Sources for Acrofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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