MCID: ACR017
MIFTS: 29

Acrofacial Dysostosis

Categories: Bone diseases

Aliases & Classifications for Acrofacial Dysostosis

MalaCards integrated aliases for Acrofacial Dysostosis:

Name: Acrofacial Dysostosis 12 38 15 74

Classifications:



External Ids:

Disease Ontology 12 DOID:0060379
KEGG 38 H01376
UMLS 74 C1332140

Summaries for Acrofacial Dysostosis

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.

MalaCards based summary : Acrofacial Dysostosis is related to weyers acrofacial dysostosis and acrofacial dysostosis 1, nager type. An important gene associated with Acrofacial Dysostosis is DHODH (Dihydroorotate Dehydrogenase (Quinone)), and among its related pathways/superpathways are Pyrimidine metabolism and Spliceosome. Affiliated tissues include kidney, liver and bone, and related phenotypes are Decreased viability in esophageal squamous lineage and Increased number of mitotic cells

Related Diseases for Acrofacial Dysostosis

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

(show all 38)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 34.5 EVC EVC2
2 acrofacial dysostosis 1, nager type 33.3 ARSE DHODH EFTUD2 SF3B4 TXNL4A
3 dysostosis 30.9 DHODH EFTUD2 EVC EVC2 POLR1A SF3B4
4 treacher collins syndrome 1 29.4 DHODH EFTUD2 POLR1A SF3B4 TXNL4A
5 acrofacial dysostosis, cincinnati type 12.8
6 postaxial acrofacial dysostosis 12.8
7 acrofacial dysostosis syndrome of rodriguez 12.8
8 acrofacial dysostosis, palagonia type 12.8
9 acrofacial dysostosis, catania type 12.7
10 acrofacial dysostosis, patagonia type 12.5
11 acrofacial dysostosis preis type 12.3
12 acrofacial dysostosis, kennedy-teebi type 12.3
13 robin sequence with cleft mandible and limb anomalies 11.6
14 cleft lip 10.3
15 frontonasal dysplasia 1 10.2
16 pierre robin syndrome and oligodactyly 10.2
17 tetralogy of fallot 10.2
18 renal hypodysplasia/aplasia 1 10.2
19 lung agenesis 10.2
20 preaxial hallucal polydactyly 10.2
21 polydactyly 10.2
22 ankylosis 10.2
23 hermansky-pudlak syndrome 10.2
24 microcephaly 10.2
25 hypertrophic cardiomyopathy 10.2
26 isolated pierre robin sequence 10.2
27 cleft lip/palate 10.2
28 microtia 10.2
29 polydactyly, postaxial, type a1 10.2 EVC EVC2
30 clouston syndrome 10.1 EVC EVC2
31 short-rib thoracic dysplasia 6 with or without polydactyly 10.1 EVC EVC2
32 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.1 PKD1 TSC2
33 atrioventricular septal defect 10.0 EVC EVC2
34 tuberous sclerosis 2 10.0 PKD1 TSC2
35 polycystic liver disease 1 with or without kidney cysts 9.9 PKD1 TSC2
36 choanal atresia, posterior 9.9 EFTUD2 TXNL4A
37 polycystic kidney disease 4 with or without polycystic liver disease 9.8 PKD1 TSC2
38 mandibulofacial dysostosis, guion-almeida type 9.3 EFTUD2 EIF4A3 SF3B4 TXNL4A

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:

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability in esophageal squamous lineage GR00235-A 9.5 ARSE DHODH EFTUD2 EIF4A3 PKD1 SF3B4
2 Increased number of mitotic cells GR00098-A-3 8.8 EFTUD2 EIF4A3 SF3B4

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:

42
Kidney, Liver, Bone, Lung

Publications for Acrofacial Dysostosis

Articles related to Acrofacial Dysostosis:

(show top 50) (show all 112)
# Title Authors Year
1
The final demise of Rodriguez lethal acrofacial dysostosis: A case report and review of the literature. ( 30924273 )
2019
2
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis - Cincinnati type. ( 29750247 )
2018
3
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. ( 27590395 )
2016
4
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27622494 )
2016
5
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. ( 27642715 )
2016
6
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27935951 )
2016
7
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. ( 25913037 )
2015
8
Dental Management of a Patient with Nager Acrofacial Dysostosis. ( 26527228 )
2015
9
Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl. ( 26701993 )
2015
10
Limbal dermoid in Nager acrofacial dysostosis: a rare case report. ( 23619496 )
2014
11
Orodental findings in postaxial acrofacial dysostosis. ( 24959059 )
2014
12
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. ( 23653874 )
2013
13
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. ( 23913624 )
2013
14
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. ( 22692683 )
2012
15
A case report: nager acrofacial dysostosis. ( 24303385 )
2012
16
Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. ( 21271648 )
2011
17
Unusual acrofacial dysostosis with severe limb defects: a new syndrome. ( 22029165 )
2011
18
Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome? ( 20412112 )
2010
19
Rodriguez lethal acrofacial dysostosis syndrome with pulmonary hypoplasia. ( 19674374 )
2009
20
Richieri-Costa and Pereira form of acrofacial dysostosis: first description of an adult with mesomelic shortness of the lower limbs. ( 19938093 )
2009
21
Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil? ( 18238994 )
2008
22
A variant or a "new" postaxial acrofacial dysostosis syndrome. ( 18286304 )
2008
23
Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. ( 18388791 )
2008
24
Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement. ( 18821720 )
2008
25
New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. ( 17351350 )
2007
26
Report of a new syndrome: focus on differential diagnosis and review of Ellis-van Creveld, Curry-Hall, acrofacial dysostosis, and orofacial digital syndromes. ( 17466885 )
2007
27
Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review. ( 17674260 )
2007
28
Ellis-van Creveld and Weyers acrofacial dysostosis. ( 17942330 )
2007
29
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. ( 18000904 )
2007
30
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. ( 16404586 )
2006
31
Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. ( 16877861 )
2006
32
Nager's acrofacial dysostosis with hypertrophic cardiomyopathy. ( 17013486 )
2006
33
Acrofacial dysostosis type Rodríguez. ( 15793832 )
2005
34
Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi. ( 15822074 )
2005
35
Otologic and audiologic features of Nager acrofacial dysostosis. ( 16005346 )
2005
36
Acrofacial dysostosis (AFD) with preaxial limb hypoplasia (Nager AFD) and club foot diagnosed in a fetus from 1812 in the anatomical collections at the University of Halle, Germany. ( 16096996 )
2005
37
Nager syndrome (preaxial acrofacial dysostosis): a case report. ( 15184856 )
2004
38
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. ( 15266620 )
2004
39
Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients. ( 12955765 )
2003
40
Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis. ( 11822708 )
2002
41
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. ( 11836366 )
2002
42
Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez. ( 12400073 )
2002
43
Nager acrofacial dysostosis with autosomal dominant inheritance: implications for the otolaryngologist. ( 10964304 )
2000
44
Deletion of 1q in a patient with acrofacial dysostosis. ( 10051162 )
1999
45
On the nosology of severe acrofacial dysostosis with limb deficiency. ( 10215555 )
1999
46
The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant. ( 10594883 )
1999
47
A.B.R. in Nager type acrofacial dysostosis syndrome. ( 23119544 )
1999
48
Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. ( 9674917 )
1998
49
Double epiglottis in Weyer's acrofacial dysostosis. ( 10211227 )
1998
50
Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family. ( 9098488 )
1997

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:

38
# 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
Show member pathways
12.87 EFTUD2 EIF4A3 POLR1A SF3B4 TSC2 TXNL4A
2
Show member pathways
12.41 EFTUD2 EIF4A3 SF3B4 TXNL4A
3 10.52 EFTUD2 SF3B4 TXNL4A

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 cilium GO:0005929 9.5 EVC EVC2 PKD1
2 U4/U6 x U5 tri-snRNP complex GO:0046540 9.26 EFTUD2 TXNL4A
3 plasma membrane protein complex GO:0098797 9.16 EVC EVC2
4 ciliary membrane GO:0060170 9.13 EVC EVC2 PKD1
5 spliceosomal complex GO:0005681 8.92 EFTUD2 EIF4A3 SF3B4 TXNL4A

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.46 EFTUD2 EIF4A3 SF3B4 TXNL4A
2 smoothened signaling pathway GO:0007224 9.32 EVC EVC2
3 RNA splicing, via transesterification reactions GO:0000375 9.26 SF3B4 TXNL4A
4 RNA splicing GO:0008380 9.26 EFTUD2 EIF4A3 SF3B4 TXNL4A
5 mRNA splicing, via spliceosome GO:0000398 8.92 EFTUD2 EIF4A3 SF3B4 TXNL4A

Sources for Acrofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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