MCID: ARL006
MIFTS: 18

Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation

Categories: Mental diseases, Neuronal diseases, Fetal diseases, Rare 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 53 28
Aural Atresia-Multiple Congenital Anomalies-Intellectual Disability Syndrome 55
Cooper-Jabs Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
cooper-jabs syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
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 malar flattening, frontal bossing and intellectual disability. 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:

53
Cardiovascular:
ventricular septal defect

Neuro:
mental retardation

GI:
anus anteriorly displaced

Skeletal:
clubfoot

Ears:
auditory canal atresia


Clinical features from OMIM:

209770

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

55 31 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 55 31 hallmark (90%) Very frequent (99-80%) HP:0000272
2 frontal bossing 55 31 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intellectual disability 55 31 hallmark (90%) Very frequent (99-80%) HP:0001249
4 muscular hypotonia 55 31 frequent (33%) Frequent (79-30%) HP:0001252
5 respiratory insufficiency 55 31 frequent (33%) Frequent (79-30%) HP:0002093
6 scoliosis 55 31 frequent (33%) Frequent (79-30%) HP:0002650
7 umbilical hernia 55 31 frequent (33%) Frequent (79-30%) HP:0001537
8 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
9 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
10 brachycephaly 55 31 hallmark (90%) Very frequent (99-80%) HP:0000248
11 strabismus 55 31 frequent (33%) Frequent (79-30%) HP:0000486
12 joint hyperflexibility 55 31 frequent (33%) Frequent (79-30%) HP:0005692
13 abnormality of the hip bone 55 31 frequent (33%) Frequent (79-30%) HP:0003272
14 reduced bone mineral density 55 31 frequent (33%) Frequent (79-30%) HP:0004349
15 abnormal dermatoglyphics 55 31 frequent (33%) Frequent (79-30%) HP:0007477
16 low-set, posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000368
17 conductive hearing impairment 55 31 hallmark (90%) Very frequent (99-80%) HP:0000405
18 ventricular septal defect 55 31 hallmark (90%) Very frequent (99-80%) HP:0001629
19 camptodactyly of finger 55 31 frequent (33%) Frequent (79-30%) HP:0100490
20 anteriorly placed anus 55 31 hallmark (90%) Very frequent (99-80%) HP:0001545
21 proximal placement of thumb 55 31 hallmark (90%) Very frequent (99-80%) HP:0009623
22 atresia of the external auditory canal 55 31 hallmark (90%) Very frequent (99-80%) HP:0000413
23 missing ribs 55 31 frequent (33%) Frequent (79-30%) HP:0000921
24 congenital diaphragmatic hernia 55 31 frequent (33%) Frequent (79-30%) HP:0000776
25 talipes equinovarus 31 HP:0001762
26 abnormality of the ribs 55 Frequent (79-30%)
27 abnormality of the middle ear 55 Very frequent (99-80%)
28 abnormality of abdomen morphology 31 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:

# Genetic test Affiliating Genes
1 Aural Atresia, Multiple Congenital Anomalies, and Mental Retardation 28

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

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

38
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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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