MCID: ATS292
MIFTS: 14

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 59

Characteristics:

Orphanet epidemiological data:

59
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:



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

MalaCards based summary : Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-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 frontal bossing and sensorineural hearing impairment

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:

59 32 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
2 sensorineural hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000407
3 glossoptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000162
4 cleft palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000175
5 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
7 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
8 rhizomelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008905
9 brachydactyly 59 32 frequent (33%) Frequent (79-30%) HP:0001156
10 midface retrusion 59 32 frequent (33%) Frequent (79-30%) HP:0011800
11 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
12 premature birth 59 32 frequent (33%) Frequent (79-30%) HP:0001622
13 hypoplastic scapulae 59 32 frequent (33%) Frequent (79-30%) HP:0000882
14 upper airway obstruction 59 32 hallmark (90%) Very frequent (99-80%) HP:0002781
15 femoral bowing 59 32 frequent (33%) Frequent (79-30%) HP:0002980
16 short femur 59 32 frequent (33%) Frequent (79-30%) HP:0003097
17 dumbbell-shaped long bone 59 32 frequent (33%) Frequent (79-30%) HP:0000947
18 severe myopia 59 Frequent (79-30%)
19 metaphyseal widening 59 Frequent (79-30%)
20 high myopia 32 frequent (33%) HP:0011003

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:

41
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 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
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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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