MCID: ATS292
MIFTS: 13

Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

MalaCards integrated aliases for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome:

Name: Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome 58
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Deafness-Rhizomelic Dysplasia Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal; Age of death: early childhood,infantile;

Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

MalaCards based summary : Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome, is also known as autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome. An important gene associated with Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome is COL11A1 (Collagen Type XI Alpha 1 Chain). Affiliated tissues include bone, and related phenotypes are cleft palate and micrognathia

Related Diseases for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

Symptoms & Phenotypes for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

Human phenotypes related to Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome:

58 31 (show all 19)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000175
2 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
3 narrow chest 58 31 hallmark (90%) Very frequent (99-80%) HP:0000774
4 micromelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002983
5 rhizomelia 58 31 hallmark (90%) Very frequent (99-80%) HP:0008905
6 upper airway obstruction 58 31 hallmark (90%) Very frequent (99-80%) HP:0002781
7 sensorineural hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000407
8 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
9 brachydactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001156
10 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
11 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
12 midface retrusion 58 31 frequent (33%) Frequent (79-30%) HP:0011800
13 premature birth 58 31 frequent (33%) Frequent (79-30%) HP:0001622
14 hypoplastic scapulae 58 31 frequent (33%) Frequent (79-30%) HP:0000882
15 femoral bowing 58 31 frequent (33%) Frequent (79-30%) HP:0002980
16 high myopia 58 31 frequent (33%) Frequent (79-30%) HP:0011003
17 short femur 58 31 frequent (33%) Frequent (79-30%) HP:0003097
18 dumbbell-shaped long bone 58 31 frequent (33%) Frequent (79-30%) HP:0000947
19 metaphyseal widening 58 Frequent (79-30%)

Drugs & Therapeutics for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

Search Clinical Trials , NIH Clinical Center for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome

Genetic Tests for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

Anatomical Context for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

MalaCards organs/tissues related to Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome:

40
Bone

Publications for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

Variations for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

Expression for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

Search GEO for disease gene expression data for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome.

Pathways for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

GO Terms for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

Sources for Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural...

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
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