MCID: ACR095
MIFTS: 29

Acrofacial Dysostosis, Cincinnati Type

Categories: Genetic diseases, Bone diseases

Aliases & Classifications for Acrofacial Dysostosis, Cincinnati Type

MalaCards integrated aliases for Acrofacial Dysostosis, Cincinnati Type:

Name: Acrofacial Dysostosis, Cincinnati Type 57 75 29 6
Acrofacial Dysostosis Cincinnati Type 12 15
Afdcin 57 75
Dysostosis, Acrofacial, Cincinnati Type 40

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
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 Inhibition of Ribosome Biogenesis by p14(ARF). Affiliated tissues include bone, and related phenotypes are cleft palate and microcephaly

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)

UniProtKB/Swiss-Prot : 75 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

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

# Related Disease Score Top Affiliating Genes
1 acrofacial dysostosis 10.3
2 dysostosis 10.3

Symptoms & Phenotypes for Acrofacial Dysostosis, Cincinnati Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
microtia
large ears
anotia with severe conductive hearing loss

Skeletal Skull:
microcephaly

Cardiovascular Vascular:
patent ductus arteriosus

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

Head And Neck Nose:
choanal atresia

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

Human phenotypes related to Acrofacial Dysostosis, Cincinnati Type:

32 (show all 14)
# Description HPO Frequency HPO Source Accession
1 cleft palate 32 HP:0000175
2 microcephaly 32 HP:0000252
3 hypoplasia of the maxilla 32 HP:0000327
4 micrognathia 32 HP:0000347
5 macrotia 32 HP:0000400
6 choanal atresia 32 HP:0000453
7 downslanted palpebral fissures 32 HP:0000494
8 patent ductus arteriosus 32 HP:0001643
9 femoral bowing 32 HP:0002980
10 short stature 32 occasional (7.5%) HP:0004322
11 decreased body weight 32 occasional (7.5%) HP:0004325
12 microtia 32 HP:0008551
13 acetabular dysplasia 32 HP:0008807
14 midface retrusion 32 HP:0011800

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 viability of wild-type and TP53 knockout cells, decreased TP53 protein expression ratio (wild-type / TP53 knockout cells) GR00196-A-1 8.62 POLR1A TP53

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

MalaCards organs/tissues related to Acrofacial Dysostosis, Cincinnati Type:

41
Bone

Publications for Acrofacial Dysostosis, Cincinnati Type

Articles related to Acrofacial Dysostosis, Cincinnati Type:

# Title Authors Year
1
tp53-dependent and independent signaling underlies the pathogenesis and possible prevention of Acrofacial Dysostosis - Cincinnati type. ( 29750247 )
2018
2
Acrofacial Dysostosis, Cincinnati Type, a Mandibulofacial Dysostosis Syndrome with Limb Anomalies, Is Caused by POLR1A Dysfunction. ( 25913037 )
2015

Variations for Acrofacial Dysostosis, Cincinnati Type

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

75
# Symbol AA change Variation ID SNP ID
1 POLR1A p.Glu593Gln VAR_073964 rs794729674
2 POLR1A p.Val1299Phe VAR_073965

ClinVar genetic disease variations for Acrofacial Dysostosis, Cincinnati Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POLR1A NM_015425.5(POLR1A): c.1777G> C (p.Glu593Gln) single nucleotide variant Pathogenic rs794729674 GRCh38 Chromosome 2, 86070107: 86070107
2 POLR1A NM_015425.5(POLR1A): c.1777G> C (p.Glu593Gln) single nucleotide variant Pathogenic rs794729674 GRCh37 Chromosome 2, 86297230: 86297230
3 POLR1A NM_015425.5(POLR1A): c.3649delC (p.Gln1217Argfs) deletion Pathogenic rs875989814 GRCh37 Chromosome 2, 86267606: 86267606
4 POLR1A NM_015425.5(POLR1A): c.3649delC (p.Gln1217Argfs) deletion Pathogenic rs875989814 GRCh38 Chromosome 2, 86040483: 86040483

Expression for Acrofacial Dysostosis, Cincinnati Type

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

Pathways for Acrofacial Dysostosis, Cincinnati Type

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

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.56 POLR1A TP53
2 9.97 POLR1A TP53

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 nucleolus GO:0005730 8.62 POLR1A TP53

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

# Name GO ID Score Top Affiliating Genes
1 zinc ion binding GO:0008270 8.96 POLR1A TP53
2 chromatin binding GO:0003682 8.62 POLR1A TP53

Sources for Acrofacial Dysostosis, Cincinnati Type

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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