MCID: CXR001
MIFTS: 13

Coxoauricular Syndrome

Categories: Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Coxoauricular Syndrome

MalaCards integrated aliases for Coxoauricular Syndrome:

Name: Coxoauricular Syndrome 58 54 60 74

Characteristics:

Orphanet epidemiological data:

60
coxoauricular syndrome
Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant vs. x-linked dominant with lethality in hemizygous males


HPO:

33

Classifications:



External Ids:

OMIM 58 122780
ICD10 via Orphanet 35 Q87.1
UMLS via Orphanet 75 C1852513
Orphanet 60 ORPHA1508
MedGen 43 C1852513
UMLS 74 C1852513

Summaries for Coxoauricular Syndrome

MalaCards based summary : Coxoauricular Syndrome Affiliated tissues include bone, and related phenotypes are hearing impairment and microtia

Description from OMIM: 122780

Related Diseases for Coxoauricular Syndrome

Symptoms & Phenotypes for Coxoauricular Syndrome

Human phenotypes related to Coxoauricular Syndrome:

60 33 (show all 9)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
2 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
3 short stature 60 33 hallmark (90%) Very frequent (99-80%) HP:0004322
4 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
5 reduced bone mineral density 60 33 hallmark (90%) Very frequent (99-80%) HP:0004349
6 hip dislocation 60 33 hallmark (90%) Very frequent (99-80%) HP:0002827
7 abnormality of femur morphology 60 33 hallmark (90%) Very frequent (99-80%) HP:0002823
8 atresia of the external auditory canal 60 33 hallmark (90%) Very frequent (99-80%) HP:0000413
9 abnormality of pelvic girdle bone morphology 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
Ears:
microtia
deafness

Joints:
hip dislocation

Growth:
short stature

Skel:
minor vertebral and pelvic changes

Clinical features from OMIM:

122780

Drugs & Therapeutics for Coxoauricular Syndrome

Search Clinical Trials , NIH Clinical Center for Coxoauricular Syndrome

Genetic Tests for Coxoauricular Syndrome

Anatomical Context for Coxoauricular Syndrome

MalaCards organs/tissues related to Coxoauricular Syndrome:

42
Bone

Publications for Coxoauricular Syndrome

Articles related to Coxoauricular Syndrome:

# Title Authors Year
1
A previously unreported, dominantly inherited syndrome of shortness of stature, ear malformations, and hip dislocation: the coxoauricular syndrome--autosomal or X-linked male-lethal. ( 7282772 )
1981

Variations for Coxoauricular Syndrome

Expression for Coxoauricular Syndrome

Search GEO for disease gene expression data for Coxoauricular Syndrome.

Pathways for Coxoauricular Syndrome

GO Terms for Coxoauricular Syndrome

Sources for Coxoauricular Syndrome

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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