MCID: ACR017
MIFTS: 24

Acrofacial Dysostosis

Categories: Bone diseases

Aliases & Classifications for Acrofacial Dysostosis

MalaCards integrated aliases for Acrofacial Dysostosis:

Name: Acrofacial Dysostosis 12 37 15 73

Classifications:



External Ids:

Disease Ontology 12 DOID:0060379
KEGG 37 H01376

Summaries for Acrofacial Dysostosis

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 bone, and related phenotype is Decreased viability in esophageal squamous lineage.

Related Diseases for Acrofacial Dysostosis

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

(show all 41)
# Related Disease Score Top Affiliating Genes
1 weyers acrofacial dysostosis 34.5 EVC EVC2
2 acrofacial dysostosis 1, nager type 32.3 ARSE DHODH SF3B4 TXNL4A
3 dysostosis 30.3 DHODH EVC EVC2 POLR1A SF3B4
4 treacher collins syndrome 1 29.0 DHODH POLR1A SF3B4 TXNL4A
5 acrofacial dysostosis, cincinnati type 12.6
6 postaxial acrofacial dysostosis 12.6
7 acrofacial dysostosis, palagonia type 12.6
8 acrofacial dysostosis, catania type 12.4
9 acrofacial dysostosis syndrome of rodriguez 12.4
10 acrofacial dysostosis, patagonia type 12.1
11 acrofacial dysostosis preis type 12.1
12 acrofacial dysostosis, kennedy-teebi type 12.1
13 robin sequence with cleft mandible and limb anomalies 11.4
14 polydactyly, postaxial, type a1 10.3 EVC EVC2
15 clouston syndrome 10.3 EVC EVC2
16 short-rib thoracic dysplasia 6 with or without polydactyly 10.3 EVC EVC2
17 atrioventricular septal defect 10.2 EVC EVC2
18 laryngitis 10.1
19 cleft lip 10.1
20 polycystic kidney disease, infantile severe, with tuberous sclerosis 10.1 PKD1 TSC2
21 tuberous sclerosis 2 10.0 PKD1 TSC2
22 frontonasal dysplasia 1 10.0
23 pierre robin syndrome and oligodactyly 10.0
24 tetralogy of fallot 10.0
25 renal hypodysplasia/aplasia 1 10.0
26 lung agenesis 10.0
27 aging 10.0
28 polydactyly 10.0
29 orofacial cleft 10.0
30 microcephaly 10.0
31 hypertrophic cardiomyopathy 10.0
32 ankylosis 10.0
33 hermansky-pudlak syndrome 10.0
34 isolated pierre robin sequence 10.0
35 cleft lip/palate 10.0
36 microtia 10.0
37 polycystic liver disease 1 with or without kidney cysts 10.0 PKD1 TSC2
38 polycystic kidney disease 1 with or without polycystic liver disease 9.9 PKD1 TSC2
39 polycystic kidney disease 4 with or without polycystic liver disease 9.8 PKD1 TSC2
40 ellis-van creveld syndrome 9.7 EVC EVC2
41 autosomal genetic disease 9.7 PKD1 TSC2

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 viability in esophageal squamous lineage GR00235-A 9.1 PKD1 SF3B4 TXNL4A ARSE DHODH EIF4A3

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:

41
Bone

Publications for Acrofacial Dysostosis

Articles related to Acrofacial Dysostosis:

(show top 50) (show all 112)
# Title Authors Year
1
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis - Cincinnati type. ( 29750247 )
2018
2
EP10.02: Nager acrofacial dysostosis: early first trimester ultrasound or exome sequencing? ( 27645160 )
2016
3
Rodriguez lethal acrofacial dysostosis syndrome with ambiguous genitalia. ( 27590395 )
2016
4
Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene. ( 27642715 )
2016
5
Correction: Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27935951 )
2016
6
Altered mRNA Splicing, Chondrocyte Gene Expression and Abnormal Skeletal Development due to SF3B4 Mutations in Rodriguez Acrofacial Dysostosis. ( 27622494 )
2016
7
Dental Management of a Patient with Nager Acrofacial Dysostosis. ( 26527228 )
2015
8
Nager acrofacial dysostosis: a rare genetic disorder causing bilateral temperomandibular joint ankylosis in a 10-year-old girl. ( 26701993 )
2015
9
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. ( 25913037 )
2015
10
Orodental findings in postaxial acrofacial dysostosis. ( 24959059 )
2014
11
Limbal dermoid in Nager syndrome acrofacial dysostosis: A rare case report. ( 23619484 )
2013
12
Prenatal diagnosis of treacher-collins syndrome using three-dimensional ultrasonography and differential diagnosis with other acrofacial dysostosis syndromes. ( 23653874 )
2013
13
Limbal dermoid in Nager acrofacial dysostosis: A rare case report. ( 23619496 )
2013
14
Possible autosomal recessive inheritance in an infant with acrofacial dysostosis similar to Nager syndrome. ( 23913624 )
2013
15
Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH. ( 22692683 )
2012
16
A case report: nager acrofacial dysostosis. ( 24303385 )
2012
17
Unusual acrofacial dysostosis with severe limb defects: a new syndrome. ( 22029165 )
2011
18
Richieri-Costa-Pereira syndrome: a unique acrofacial dysostosis type. An overview of the Brazilian cases. ( 21271648 )
2011
19
Mandibulofacial dysostosis, microtia, and limb anomalies in a newborn: a new form of acrofacial dysostosis syndrome? ( 20412112 )
2010
20
Richieri-Costa and Pereira form of acrofacial dysostosis: first description of an adult with mesomelic shortness of the lower limbs. ( 19938093 )
2009
21
Rodriguez lethal acrofacial dysostosis syndrome with pulmonary hypoplasia. ( 19674374 )
2009
22
Prenatal sonographic diagnosis of Nager acrofacial dysostosis with unilateral upper limb involvement. ( 18821720 )
2008
23
Mandibulofacial dysostosis, acral anomalies and frontonasal dysplasia: a new form of acrofacial dysostosis. ( 18388791 )
2008
24
A variant or a "new" postaxial acrofacial dysostosis syndrome. ( 18286304 )
2008
25
Severe facial clefts in acrofacial dysostosis: a consequence of prenatal exposure to mycophenolate mofetil? ( 18238994 )
2008
26
Ellis-van Creveld and Weyers acrofacial dysostosis. ( 17942330 )
2007
27
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
28
Acrofacial dysostosis syndrome type Rodriguez: prenatal diagnosis and autopsy findings. ( 18000904 )
2007
29
New clinical findings in the Richieri-Costa/Pereira type of acrofacial dysostosis. ( 17351350 )
2007
30
Acrofacial dysostosis syndromes: a relevant prenatal dilemma. A case report and brief literature review. ( 17674260 )
2007
31
Nager acrofacial dysostosis: an unusual association with both upper and lower eyelid colobomas. ( 16877861 )
2006
32
A novel heterozygous deletion in the EVC2 gene causes Weyers acrofacial dysostosis. ( 16404586 )
2006
33
Nager's acrofacial dysostosis with hypertrophic cardiomyopathy. ( 17013486 )
2006
34
Acrofacial dysostosis type RodrA-guez. ( 15793832 )
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
Facial characteristics are not distinctive features for the acrofacial dysostosis syndrome type Kennedy-Teebi. ( 15822074 )
2005
38
Newly recognized autosomal recessive acrofacial dysostosis syndrome resembling Nager syndrome. ( 15266620 )
2004
39
Nager syndrome (preaxial acrofacial dysostosis): a case report. ( 15184856 )
2004
40
Laryngeal malformation in the Richieri-Costa-Pereira acrofacial dysostosis: description of two new patients. ( 12955765 )
2003
41
Prenatal diagnosis and confirmation of the acrofacial dysostosis syndrome type Rodriguez. ( 12400073 )
2002
42
Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome. ( 11836366 )
2002
43
Lethal acrofacial dysostosis, pre- and post-axial defects of the hands, and bilateral renal agenesis. ( 11822708 )
2002
44
Nager acrofacial dysostosis with autosomal dominant inheritance: implications for the otolaryngologist. ( 10964304 )
2000
45
The Richieri-Costa and Pereira form of acrofacial dysostosis: first case in a non-Brazilian infant. ( 10594883 )
1999
46
Deletion of 1q in a patient with acrofacial dysostosis. ( 10051162 )
1999
47
On the nosology of severe acrofacial dysostosis with limb deficiency. ( 10215555 )
1999
48
A.B.R. in Nager type acrofacial dysostosis syndrome. ( 23119544 )
1999
49
Severe acrofacial dysostosis with orofacial clefting and tetraphocomelia diagnosed in the plaster cast of a 100-year-old anatomical specimen. ( 9674917 )
1998
50
Double epiglottis in Weyer's acrofacial dysostosis. ( 10211227 )
1998

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:

37
# 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 10.35 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 9.43 EVC EVC2 PKD1
2 spliceosomal complex GO:0005681 9.33 EIF4A3 SF3B4 TXNL4A
3 plasma membrane protein complex GO:0098797 8.96 EVC EVC2
4 ciliary membrane GO:0060170 8.8 EVC EVC2 PKD1

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

# Name GO ID Score Top Affiliating Genes
1 mRNA processing GO:0006397 9.5 EIF4A3 SF3B4 TXNL4A
2 cartilage development GO:0051216 9.37 EVC PKD1
3 RNA splicing GO:0008380 9.33 EIF4A3 SF3B4 TXNL4A
4 smoothened signaling pathway GO:0007224 9.26 EVC EVC2
5 mRNA splicing, via spliceosome GO:0000398 9.13 EIF4A3 SF3B4 TXNL4A
6 RNA splicing, via transesterification reactions GO:0000375 8.62 SF3B4 TXNL4A

Sources for Acrofacial Dysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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