MCID: IMP019
MIFTS: 13

Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

MalaCards integrated aliases for Imperforate Oropharynx-Costovertebral Anomalies Syndrome:

Name: Imperforate Oropharynx-Costovertebral Anomalies Syndrome 58
Seghers Syndrome 58

Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

MalaCards based summary : Imperforate Oropharynx-Costovertebral Anomalies Syndrome, also known as seghers syndrome, is related to imperforate oropharynx-costo vetebral anomalies. Affiliated tissues include bone and tongue, and related phenotypes are recurrent respiratory infections and low-set ears

Related Diseases for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Diseases related to Imperforate Oropharynx-Costovertebral Anomalies Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 imperforate oropharynx-costo vetebral anomalies 11.7

Symptoms & Phenotypes for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Human phenotypes related to Imperforate Oropharynx-Costovertebral Anomalies Syndrome:

58 31 (showing 27, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 recurrent respiratory infections 58 31 hallmark (90%) Very frequent (99-80%) HP:0002205
2 low-set ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000369
3 hemivertebrae 58 31 hallmark (90%) Very frequent (99-80%) HP:0002937
4 abnormality of the pharynx 58 31 hallmark (90%) Very frequent (99-80%) HP:0000600
5 abnormality of the philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000288
6 missing ribs 58 31 hallmark (90%) Very frequent (99-80%) HP:0000921
7 respiratory failure 58 31 hallmark (90%) Very frequent (99-80%) HP:0002878
8 respiratory distress 58 31 hallmark (90%) Very frequent (99-80%) HP:0002098
9 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
10 wide nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000431
11 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
12 arachnodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001166
13 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
14 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
15 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
16 choanal atresia 58 31 frequent (33%) Frequent (79-30%) HP:0000453
17 polyhydramnios 58 31 frequent (33%) Frequent (79-30%) HP:0001561
18 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
19 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
20 aplasia/hypoplasia of the tongue 58 31 frequent (33%) Frequent (79-30%) HP:0010295
21 abnormality of the antitragus 58 31 frequent (33%) Frequent (79-30%) HP:0009896
22 long palm 58 31 frequent (33%) Frequent (79-30%) HP:0011302
23 dyspnea 58 Very frequent (99-80%)
24 abnormal form of the vertebral bodies 58 Very frequent (99-80%)
25 abnormality of the ribs 58 Very frequent (99-80%)
26 abnormality of the mouth 58 Very frequent (99-80%)
27 abnormality of the lip 58 Very frequent (99-80%)

Drugs & Therapeutics for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Search Clinical Trials , NIH Clinical Center for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Genetic Tests for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Anatomical Context for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

MalaCards organs/tissues related to Imperforate Oropharynx-Costovertebral Anomalies Syndrome:

40
Bone, Tongue

Publications for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Variations for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Expression for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Search GEO for disease gene expression data for Imperforate Oropharynx-Costovertebral Anomalies Syndrome.

Pathways for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

GO Terms for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

Sources for Imperforate Oropharynx-Costovertebral Anomalies Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....