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 60

Characteristics:

Orphanet epidemiological data:

60
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 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:

60 33 (show all 20)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 60 33 hallmark (90%) Very frequent (99-80%) HP:0000175
2 micrognathia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000347
3 narrow chest 60 33 hallmark (90%) Very frequent (99-80%) HP:0000774
4 micromelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0002983
5 rhizomelia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008905
6 upper airway obstruction 60 33 hallmark (90%) Very frequent (99-80%) HP:0002781
7 frontal bossing 60 33 frequent (33%) Frequent (79-30%) HP:0002007
8 sensorineural hearing impairment 60 33 frequent (33%) Frequent (79-30%) HP:0000407
9 glossoptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000162
10 brachydactyly 60 33 frequent (33%) Frequent (79-30%) HP:0001156
11 midface retrusion 60 33 frequent (33%) Frequent (79-30%) HP:0011800
12 proptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000520
13 premature birth 60 33 frequent (33%) Frequent (79-30%) HP:0001622
14 hypoplastic scapulae 60 33 frequent (33%) Frequent (79-30%) HP:0000882
15 femoral bowing 60 33 frequent (33%) Frequent (79-30%) HP:0002980
16 short femur 60 33 frequent (33%) Frequent (79-30%) HP:0003097
17 dumbbell-shaped long bone 60 33 frequent (33%) Frequent (79-30%) HP:0000947
18 high myopia 33 frequent (33%) HP:0011003
19 severe myopia 60 Frequent (79-30%)
20 metaphyseal widening 60 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:

42
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
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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