MCID: ACR017
MIFTS: 29

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. 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 102)
# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis, cincinnati type 33.0 TCOF1 POLR1D POLR1A
2 postaxial acrofacial dysostosis 32.5 TCOF1 SF3B4 POLR1D OR56A5 EFTUD2 DHODH
3 acrofacial dysostosis 1, nager type 31.7 UNC13B TCOF1 SF3B4 POLR1D OR56A5 ODR4
4 dysostosis 30.7 TSC2 TCOF1 SF3B4 POLR1A PKD1 H2AC18
5 cleft palate, isolated 30.5 TCOF1 SF3B4 POLR1D H2AC18 EVC2 EFTUD2
6 burn-mckeown syndrome 30.4 SF3B4 POLR1A EFTUD2
7 treacher collins syndrome 1 30.3 TCOF1 SF3B4 POLR1D POLR1A EFTUD2 DHODH
8 atrial heart septal defect 30.3 EVC2 EVC CFAP47
9 heart septal defect 30.3 H2AC18 EVC2 CFAP47
10 coloboma of macula 30.1 TCOF1 POLR1D H2AC18 EFTUD2 CFAP47
11 weyers acrofacial dysostosis 12.0
12 acrofacial dysostosis syndrome of rodriguez 11.8
13 acrofacial dysostosis, catania type 11.8
14 acrofacial dysostosis, palagonia type 11.7
15 acrofacial dysostosis, patagonia type 11.5
16 ellis-van creveld syndrome 11.3
17 robin sequence with cleft mandible and limb anomalies 11.2
18 acrofacial dysostosis preis type 11.2
19 acrofacial dysostosis, kennedy-teebi type 11.1
20 cleft lip 10.4
21 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.3 TSC2 PKD1
22 phocomelia 10.3
23 isolated pierre robin sequence 10.3
24 microtia 10.3
25 anodontia 10.3 EVC2 EVC
26 microcephaly 10.2
27 clubfoot 10.2
28 synostosis 10.2
29 oculoauricular syndrome 10.2 EVC2 EVC
30 choanal atresia, posterior 10.2 TCOF1 EFTUD2 CFAP47
31 pierre robin syndrome and oligodactyly 10.2
32 tetralogy of fallot 10.2
33 renal hypodysplasia/aplasia 1 10.2
34 preaxial hallucal polydactyly 10.2
35 branchiootic syndrome 1 10.2
36 polydactyly 10.2
37 brachydactyly 10.2
38 ptosis 10.2
39 hydrocephalus 10.2
40 respiratory failure 10.2
41 radioulnar synostosis 10.2
42 cleft lip/palate 10.2
43 bone development disease 10.1 H2AC18 EVC2 CFAP47
44 hemifacial microsomia 10.1 TCOF1 POLR1D EFTUD2
45 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.1 TSC2 PKD1 H2AC18 CFAP47
46 von hippel-lindau syndrome 10.1 TSC2 PKD1 H2AC18
47 mandibulofacial dysostosis, guion-almeida type 10.1 TCOF1 SF3B4 POLR1D EFTUD2
48 autosomal genetic disease 10.1 TSC2 PKD1 H2AC18 CFAP47
49 sweeney-cox syndrome 10.0 POLR1A CFAP47
50 atrial standstill 1 10.0

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

MGI Mouse Phenotypes related to Acrofacial Dysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.44 CADPS DHODH EFTUD2 EVC EVC2 NCS1

Drugs & Therapeutics for Acrofacial Dysostosis

Search Clinical Trials , NIH Clinical Center for Acrofacial Dysostosis

Genetic Tests for Acrofacial Dysostosis

Anatomical Context for Acrofacial Dysostosis

Publications for Acrofacial Dysostosis

Articles related to Acrofacial Dysostosis:

(show top 50) (show all 175)
# Title Authors PMID Year
1
Nager syndrome in patient lacking acrofacial dysostosis: Expanding the phenotypic spectrum of SF3B4-related disease. 61
33559401 2021
2
Broad-spectrum next-generation sequencing-based diagnosis of a case of Nager syndrome. 61
32537850 2020
3
Hyoid Bone Position and Head Posture in Patients With Richieri-Costa Pereira Syndrome (EIF4A3 Mutations). 61
32217860 2020
4
Heterozygous mutation of the splicing factor Sf3b4 affects development of the axial skeleton and forebrain in mouse. 61
31900962 2020
5
Targeted Next-Generation Sequencing in the Diagnosis of Facial Dysostoses. 61
33262786 2020
6
Erosive pustular dermatosis of the scalp in an adolescent with near-total hair regrowth: Case report and review of the literature. 61
31355463 2019
7
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. 61
30924273 2019
8
Genetic Polymorphisms Associated with Idiopathic Short Stature and First-Year Response to Growth Hormone Treatment. 61
30970347 2019
9
Cephalometric Findings in Nine Individuals With Richieri-Costa-Pereira Syndrome. 61
29863549 2018
10
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type. 61
29750247 2018
11
Richieri-Costa-Pereira syndrome: Expanding its phenotypic and genotypic spectrum. 61
29112243 2018
12
Complexity of the 5' Untranslated Region of EIF4A3, a Critical Factor for Craniofacial and Neural Development. 61
29922329 2018
13
Ankylosis of temporomandibular joints after mandibular distraction osteogenesis in patients with Nager syndrome: Report of two cases and literature review. 61
28688869 2017
14
Role of Primary Cilia in Odontogenesis. 61
28605602 2017
15
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. 61
28186364 2017
16
A synonymous splicing mutation in the SF3B4 gene segregates in a family with highly variable Nager syndrome. 61
27966544 2017
17
Mitochondrial nucleic acid binding proteins associated with diseases. 61
27814609 2017
18
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. 61
27642715 2016
19
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. 61
27935951 2016
20
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. 61
27370710 2016
21
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. 61
27622494 2016
22
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. 61
27590395 2016
23
The Craniofacial and Upper Limb Management of Nager Syndrome. 61
27171953 2016
24
Propranolol-induced gingival hyperplasia with Nager syndrome: A rare adverse drug reaction. 61
27144155 2016
25
Novel mutations in EVC cause aberrant splicing in Ellis-van Creveld syndrome. 61
26621368 2016
26
Prenatal diagnosis of Nager syndrome in a 12-week-old fetus with a whole gene deletion of SF3B4 by chromosomal microarray. 61
26679067 2016
27
Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl. 61
26701993 2015
28
A review of craniofacial disorders caused by spliceosomal defects. 61
25865758 2015
29
[Nager syndrome associated with tetralogy of Fallot: A frequent association?]. 61
26228803 2015
30
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. 61
25913037 2015
31
Dental Management of a Patient with Nager Acrofacial Dysostosis. 61
26527228 2015
32
Management of soft palate agenesis in Nager syndrome with an elongated, superiorly based pharyngeal flap. 61
25397380 2014
33
Nager syndrome: confirmation of SF3B4 haploinsufficiency as the major cause. 61
24003905 2014
34
A 22-Week-Old Fetus with Nager Syndrome and Congenital Diaphragmatic Hernia due to a Novel SF3B4 Mutation. 61
25337072 2014
35
Rodriguez syndrome with SF3B4 mutation: a severe form of Nager syndrome? 61
24715698 2014
36
Limbal dermoid in Nager acrofacial dysostosis: a rare case report. 61
23619496 2014
37
Orodental findings in postaxial acrofacial dysostosis. 61
24959059 2014
38
A noncoding expansion in EIF4A3 causes Richieri-Costa-Pereira syndrome, a craniofacial disorder associated with limb defects. 61
24360810 2014
39
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. 61
23913624 2013
40
Clinical and mutation data in 12 patients with the clinical diagnosis of Nager syndrome. 61
23568615 2013
41
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations. 61
23879989 2013
42
Novel and recurrent EVC and EVC2 mutations in Ellis-van Creveld syndrome and Weyers acrofacial dyostosis. 61
23220543 2013
43
Dihydro-orotate dehydrogenase is physically associated with the respiratory complex and its loss leads to mitochondrial dysfunction. 61
23216091 2013
44
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. 61
23653874 2013
45
Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients. 61
22967083 2012
46
Prenatal diagnosis of Nager syndrome in the third trimester of pregnancy and anatomopathological correlation. 61
27279120 2012
47
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. 61
22692683 2012
48
Ciliary disorder of the skeleton. 61
22791528 2012
49
Nager syndrome: a case report. 61
22503264 2012
50
A case report: nager acrofacial dysostosis. 61
24303385 2012

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 10.3 POLR1D POLR1A
2 9.62 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 RNA polymerase I complex GO:0005736 9.16 POLR1D POLR1A
2 plasma membrane protein complex GO:0098797 8.96 EVC2 EVC
3 ciliary membrane GO:0060170 8.8 PKD1 EVC2 EVC

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of exocytosis GO:0045921 8.62 NCS1 CADPS

Sources for Acrofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....