AFDCIN
MCID: ACR095
MIFTS: 36

Acrofacial Dysostosis, Cincinnati Type (AFDCIN)

Categories: Bone diseases, Genetic diseases

Aliases & Classifications for Acrofacial Dysostosis, Cincinnati Type

MalaCards integrated aliases for Acrofacial Dysostosis, Cincinnati Type:

Name: Acrofacial Dysostosis, Cincinnati Type 57 72 29 6
Acrofacial Dysostosis Cincinnati Type 12 15
Afdcin 57 72
Dysostosis, Acrofacial, Cincinnati Type 39

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
extreme variability in severity of features
three patients have been reported (last curated july 2015)


HPO:

31
acrofacial dysostosis, cincinnati type:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrofacial Dysostosis, Cincinnati Type

Disease Ontology : 12 An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has material basis in heterozygous mutation in the POLR1A gene on chromosome 2p11.

MalaCards based summary : Acrofacial Dysostosis, Cincinnati Type, also known as acrofacial dysostosis cincinnati type, is related to acrofacial dysostosis and dysostosis. An important gene associated with Acrofacial Dysostosis, Cincinnati Type is POLR1A (RNA Polymerase I Subunit A), and among its related pathways/superpathways are Chks in Checkpoint Regulation and RNA Polymerase III Transcription Initiation. Related phenotypes are short stature and decreased body weight

OMIM® : 57 The Cincinnati type of acrofacial dysostosis is a ribosomopathy characterized by a spectrum of mandibulofacial dysostosis phenotypes, with or without extrafacial skeletal defects (Weaver et al., 2015). (616462) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Acrofacial dysostosis, Cincinnati type: A form of acrofacial dysostosis, a group of disorders which are characterized by malformation of the craniofacial skeleton and, in some patients, the limbs.

Related Diseases for Acrofacial Dysostosis, Cincinnati Type

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



Diseases related to Acrofacial Dysostosis, Cincinnati Type

Symptoms & Phenotypes for Acrofacial Dysostosis, Cincinnati Type

Human phenotypes related to Acrofacial Dysostosis, Cincinnati Type:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 short stature 31 occasional (7.5%) HP:0004322
2 decreased body weight 31 occasional (7.5%) HP:0004325
3 macrotia 31 HP:0000400
4 microtia 31 HP:0008551
5 microcephaly 31 HP:0000252
6 cleft palate 31 HP:0000175
7 retrognathia 31 HP:0000278
8 micrognathia 31 HP:0000347
9 hypoplasia of the maxilla 31 HP:0000327
10 downslanted palpebral fissures 31 HP:0000494
11 choanal atresia 31 HP:0000453
12 patent ductus arteriosus 31 HP:0001643
13 midface retrusion 31 HP:0011800
14 femoral bowing 31 HP:0002980
15 anotia 31 HP:0009892
16 acetabular dysplasia 31 HP:0008807

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Ears:
microtia
large ears
anotia with severe conductive hearing loss

Skeletal Skull:
microcephaly

Head And Neck Nose:
choanal atresia

Head And Neck Eyes:
downslanting palpebral fissures
eyelid clefts, upper and/or lower
inferiorly displaced orbits (in some patients)

Growth Height:
short stature (in some patients)

Growth Weight:
low weight (in some patients)

Skeletal Hands:
short broad fingers

Head And Neck Head:
microcephaly

Head And Neck Mouth:
cleft palate

Cardiovascular Vascular:
patent ductus arteriosus

Head And Neck Face:
hypoplastic maxilla
hypoplastic mandible
midface hypoplasia, mild to severe
micro/retrognathia, mild to severe
hypoplastic zygomatic arches
more
Skeletal Limbs:
bowed femurs
delayed ossification of epiphyses
flared metaphyses of lower extremities

Skeletal Pelvis:
dysplastic acetabulae

Skeletal Feet:
short broad toes

Clinical features from OMIM®:

616462 (Updated 20-May-2021)

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

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 8.8 POLR1A
2 Decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-2 8.8 POLR1A WDR43

MGI Mouse Phenotypes related to Acrofacial Dysostosis, Cincinnati Type:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 limbs/digits/tail MP:0005371 8.92 GRHL3 KBTBD8 POLR1A TCOF1

Drugs & Therapeutics for Acrofacial Dysostosis, Cincinnati Type

Search Clinical Trials , NIH Clinical Center for Acrofacial Dysostosis, Cincinnati Type

Genetic Tests for Acrofacial Dysostosis, Cincinnati Type

Genetic tests related to Acrofacial Dysostosis, Cincinnati Type:

# Genetic test Affiliating Genes
1 Acrofacial Dysostosis, Cincinnati Type 29 POLR1A

Anatomical Context for Acrofacial Dysostosis, Cincinnati Type

Publications for Acrofacial Dysostosis, Cincinnati Type

Articles related to Acrofacial Dysostosis, Cincinnati Type:

# Title Authors PMID Year
1
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. 6 57 61
25913037 2015
2
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome. 57
25434003 2014
3
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis-Cincinnati type. 61
29750247 2018
4
Rare syndromes of the head and face: mandibulofacial and acrofacial dysostoses. 61
28186364 2017

Variations for Acrofacial Dysostosis, Cincinnati Type

ClinVar genetic disease variations for Acrofacial Dysostosis, Cincinnati Type:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POLR1A NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln) SNV Pathogenic 203463 rs794729674 GRCh37: 2:86297230-86297230
GRCh38: 2:86070107-86070107
2 POLR1A NM_015425.6(POLR1A):c.3649del (p.Gln1217fs) Deletion Pathogenic 203464 rs875989814 GRCh37: 2:86267606-86267606
GRCh38: 2:86040483-86040483
3 POLR1A NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) SNV Pathogenic 626284 rs1377622831 GRCh37: 2:86276114-86276114
GRCh38: 2:86048991-86048991
4 POLR1A NM_015425.6(POLR1A):c.1380+2T>G SNV Pathogenic 1032690 GRCh37: 2:86304980-86304980
GRCh38: 2:86077857-86077857
5 POLR1A NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro) SNV Uncertain significance 983035 GRCh37: 2:86292488-86292488
GRCh38: 2:86065365-86065365
6 POLR1A NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) SNV Uncertain significance 774163 rs142266408 GRCh37: 2:86302253-86302253
GRCh38: 2:86075130-86075130
7 POLR1A NM_015425.6(POLR1A):c.4034+1G>T SNV Uncertain significance 1029398 GRCh37: 2:86265822-86265822
GRCh38: 2:86038699-86038699
8 POLR1A NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) SNV Uncertain significance 592105 rs1558788291 GRCh37: 2:86327120-86327120
GRCh38: 2:86099997-86099997
9 POLR1A NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) SNV Likely benign 779225 rs146078741 GRCh37: 2:86317012-86317012
GRCh38: 2:86089889-86089889

UniProtKB/Swiss-Prot genetic disease variations for Acrofacial Dysostosis, Cincinnati Type:

72
# Symbol AA change Variation ID SNP ID
1 POLR1A p.Glu593Gln VAR_073964 rs794729674
2 POLR1A p.Val1299Phe VAR_073965 rs751377255

Expression for Acrofacial Dysostosis, Cincinnati Type

Search GEO for disease gene expression data for Acrofacial Dysostosis, Cincinnati Type.

Pathways for Acrofacial Dysostosis, Cincinnati Type

GO Terms for Acrofacial Dysostosis, Cincinnati Type

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

# Name GO ID Score Top Affiliating Genes
1 nucleoplasm GO:0005654 9.63 WDR43 TCOF1 POLR1D POLR1C POLR1A GRHL3
2 fibrillar center GO:0001650 9.26 WDR43 TCOF1
3 RNA polymerase III complex GO:0005666 8.96 POLR1D POLR1C
4 RNA polymerase I complex GO:0005736 8.8 POLR1D POLR1C POLR1A

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

# Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.54 POLR1D POLR1C POLR1A
2 positive regulation of type I interferon production GO:0032481 9.43 POLR1D POLR1C
3 transcription initiation from RNA polymerase I promoter GO:0006361 9.43 POLR1D POLR1C POLR1A
4 neural crest cell development GO:0014032 9.4 TCOF1 KBTBD8
5 positive regulation of gene expression, epigenetic GO:0045815 9.33 POLR1D POLR1C POLR1A
6 neural crest formation GO:0014029 9.32 TCOF1 KBTBD8
7 termination of RNA polymerase I transcription GO:0006363 9.13 POLR1D POLR1C POLR1A
8 transcription elongation from RNA polymerase I promoter GO:0006362 8.8 POLR1D POLR1C POLR1A

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

# Name GO ID Score Top Affiliating Genes
1 DNA-directed 5'-3' RNA polymerase activity GO:0003899 9.13 POLR1D POLR1C POLR1A
2 RNA polymerase I activity GO:0001054 8.62 POLR1C POLR1A

Sources for Acrofacial Dysostosis, Cincinnati Type

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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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