AFDCIN
MCID: ACR095
MIFTS: 29

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 58 76 30 6
Acrofacial Dysostosis Cincinnati Type 12 15
Afdcin 58 76
Dysostosis, Acrofacial, Cincinnati Type 41

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


HPO:

33
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 short stature and decreased body weight

OMIM : 58 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 : 76 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 10.5
2 dysostosis 10.5

Symptoms & Phenotypes for Acrofacial Dysostosis, Cincinnati Type

Human phenotypes related to Acrofacial Dysostosis, Cincinnati Type:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 short stature 33 occasional (7.5%) HP:0004322
2 decreased body weight 33 occasional (7.5%) HP:0004325
3 macrotia 33 HP:0000400
4 microtia 33 HP:0008551
5 microcephaly 33 HP:0000252
6 cleft palate 33 HP:0000175
7 micrognathia 33 HP:0000347
8 retrognathia 33 HP:0000278
9 patent ductus arteriosus 33 HP:0001643
10 hypoplasia of the maxilla 33 HP:0000327
11 downslanted palpebral fissures 33 HP:0000494
12 choanal atresia 33 HP:0000453
13 midface retrusion 33 HP:0011800
14 femoral bowing 33 HP:0002980
15 anotia 33 HP:0009892
16 acetabular dysplasia 33 HP:0008807

Symptoms via clinical synopsis from OMIM:

58
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

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

27
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability of wild-type and 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 30 POLR1A

Anatomical Context for Acrofacial Dysostosis, Cincinnati Type

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

42
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:

76
# 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_015425.6(POLR1A): c.1777G> C (p.Glu593Gln) single nucleotide variant Pathogenic rs794729674 GRCh38 Chromosome 2, 86070107: 86070107
2 POLR1A NM_015425.6(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
5 POLR1A NM_015425.6(POLR1A): c.253C> T (p.Leu85Phe) single nucleotide variant Uncertain significance GRCh38 Chromosome 2, 86099997: 86099997
6 POLR1A NM_015425.6(POLR1A): c.253C> T (p.Leu85Phe) single nucleotide variant Uncertain significance GRCh37 Chromosome 2, 86327120: 86327120

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 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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