MCID: ARL006
MIFTS: 17

Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation

Categories: Fetal diseases, Rare diseases, Neuronal diseases, Mental diseases

Aliases & Classifications for Aural Atresia, Multiple Congenital Anomalies, and Mental...

MalaCards integrated aliases for Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation:

Name: Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 54 29
Aural Atresia-Multiple Congenital Anomalies-Intellectual Disability Syndrome 56
Cooper-Jabs Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
cooper-jabs syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
aural atresia, multiple congenital anomalies, and mental retardation:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Aural Atresia, Multiple Congenital Anomalies, and Mental...

MalaCards based summary : Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation, is also known as aural atresia-multiple congenital anomalies-intellectual disability syndrome, and has symptoms including short stature, scoliosis and strabismus. Affiliated tissues include bone.

Description from OMIM: 209770

Related Diseases for Aural Atresia, Multiple Congenital Anomalies, and Mental...

Symptoms & Phenotypes for Aural Atresia, Multiple Congenital Anomalies, and Mental...

Symptoms via clinical synopsis from OMIM:

54

Neuro:
mental retardation

Skeletal:
clubfoot

GI:
anus anteriorly displaced

Cardiovascular:
ventricular septal defect

Ears:
auditory canal atresia


Clinical features from OMIM:

209770

Human phenotypes related to Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 scoliosis 56 32 frequent (33%) Frequent (79-30%) HP:0002650
3 strabismus 56 32 frequent (33%) Frequent (79-30%) HP:0000486
4 umbilical hernia 56 32 frequent (33%) Frequent (79-30%) HP:0001537
5 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
6 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
7 intellectual disability 56 32 hallmark (90%) Very frequent (99-80%) HP:0001249
8 ventricular septal defect 56 32 hallmark (90%) Very frequent (99-80%) HP:0001629
9 brachycephaly 56 32 hallmark (90%) Very frequent (99-80%) HP:0000248
10 respiratory insufficiency 56 32 frequent (33%) Frequent (79-30%) HP:0002093
11 low-set, posteriorly rotated ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000368
12 joint hyperflexibility 56 32 frequent (33%) Frequent (79-30%) HP:0005692
13 muscular hypotonia 56 32 frequent (33%) Frequent (79-30%) HP:0001252
14 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
15 congenital diaphragmatic hernia 56 32 frequent (33%) Frequent (79-30%) HP:0000776
16 missing ribs 56 32 frequent (33%) Frequent (79-30%) HP:0000921
17 anteriorly placed anus 56 32 hallmark (90%) Very frequent (99-80%) HP:0001545
18 abnormal dermatoglyphics 56 32 frequent (33%) Frequent (79-30%) HP:0007477
19 abnormality of the hip bone 56 32 frequent (33%) Frequent (79-30%) HP:0003272
20 reduced bone mineral density 56 32 frequent (33%) Frequent (79-30%) HP:0004349
21 conductive hearing impairment 56 32 hallmark (90%) Very frequent (99-80%) HP:0000405
22 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
23 proximal placement of thumb 56 32 hallmark (90%) Very frequent (99-80%) HP:0009623
24 atresia of the external auditory canal 56 32 hallmark (90%) Very frequent (99-80%) HP:0000413
25 talipes equinovarus 32 HP:0001762
26 abnormality of the ribs 56 Frequent (79-30%)
27 abnormality of the middle ear 56 Very frequent (99-80%)
28 abnormality of abdomen morphology 32 HP:0001438

Drugs & Therapeutics for Aural Atresia, Multiple Congenital Anomalies, and Mental...

Search Clinical Trials , NIH Clinical Center for Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation

Genetic Tests for Aural Atresia, Multiple Congenital Anomalies, and Mental...

Genetic tests related to Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation:

id Genetic test Affiliating Genes
1 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 29

Anatomical Context for Aural Atresia, Multiple Congenital Anomalies, and Mental...

MalaCards organs/tissues related to Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation:

39
Bone

Publications for Aural Atresia, Multiple Congenital Anomalies, and Mental...

Variations for Aural Atresia, Multiple Congenital Anomalies, and Mental...

Expression for Aural Atresia, Multiple Congenital Anomalies, and Mental...

Search GEO for disease gene expression data for Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation.

Pathways for Aural Atresia, Multiple Congenital Anomalies, and Mental...

GO Terms for Aural Atresia, Multiple Congenital Anomalies, and Mental...

Sources for Aural Atresia, Multiple Congenital Anomalies, and Mental...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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