MCID: ARL006
MIFTS: 18

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 57 29
Aural Atresia-Multiple Congenital Anomalies-Intellectual Disability Syndrome 59
Cooper-Jabs Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
cooper-jabs syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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. Affiliated tissues include bone, and related phenotypes are malar flattening and frontal bossing

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:

57
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:

59 32 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
2 frontal bossing 59 32 hallmark (90%) Very frequent (99-80%) HP:0002007
3 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
4 muscular hypotonia 59 32 frequent (33%) Frequent (79-30%) HP:0001252
5 respiratory insufficiency 59 32 frequent (33%) Frequent (79-30%) HP:0002093
6 scoliosis 59 32 frequent (33%) Frequent (79-30%) HP:0002650
7 umbilical hernia 59 32 frequent (33%) Frequent (79-30%) HP:0001537
8 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 brachycephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000248
11 strabismus 59 32 frequent (33%) Frequent (79-30%) HP:0000486
12 joint hyperflexibility 59 32 frequent (33%) Frequent (79-30%) HP:0005692
13 abnormality of the hip bone 59 32 frequent (33%) Frequent (79-30%) HP:0003272
14 reduced bone mineral density 59 32 frequent (33%) Frequent (79-30%) HP:0004349
15 abnormal dermatoglyphics 59 32 frequent (33%) Frequent (79-30%) HP:0007477
16 low-set, posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000368
17 conductive hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000405
18 ventricular septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001629
19 camptodactyly of finger 59 32 frequent (33%) Frequent (79-30%) HP:0100490
20 anteriorly placed anus 59 32 hallmark (90%) Very frequent (99-80%) HP:0001545
21 proximal placement of thumb 59 32 hallmark (90%) Very frequent (99-80%) HP:0009623
22 atresia of the external auditory canal 59 32 hallmark (90%) Very frequent (99-80%) HP:0000413
23 missing ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000921
24 congenital diaphragmatic hernia 59 32 frequent (33%) Frequent (79-30%) HP:0000776
25 talipes equinovarus 32 HP:0001762
26 abnormality of the ribs 59 Frequent (79-30%)
27 abnormality of the middle ear 59 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:

# 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:

41
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
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
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
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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