MRXS28
MCID: CRP034
MIFTS: 22

Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia (MRXS28)

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

Aliases & Classifications for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

MalaCards integrated aliases for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia:

Name: Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 56 29 6 71
Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma and Micrognathia 56 36 13
Mrxs28 56 73
Agenesis of the Corpus Callosum with Mental Retardation Ocular Coloboma and Micrognathia 73
Agenesis, Corpus Callosum, with Mental Retardation, Ocular Coloboma and Micrognathia 39
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome 58
Mental Retardation, X-Linked, Syndromic 28; Mrxs28 56
Mental Retardation, X-Linked, Syndromic, 28 73
Mental Retardation, X-Linked, Syndromic 28 56
Graham-Cox Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked recessive


HPO:

31
corpus callosum, agenesis of, with mental retardation, ocular coloboma, and micrognathia:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare eye diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 300472
OMIM Phenotypic Series 56 PS309510
KEGG 36 H01035
ICD10 via Orphanet 33 Q87.8
UMLS via Orphanet 72 C1845446
Orphanet 58 ORPHA52055
MedGen 41 C1845446
UMLS 71 C1845446

Summaries for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

UniProtKB/Swiss-Prot : 73 Mental retardation, X-linked, syndromic, 28: A mental retardation syndrome characterized by agenesis of the corpus callosum, coloboma of the iris and optic nerve, severe retrognathia, and intellectual deficit. Mental retardation is defined by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period.

MalaCards based summary : Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia, also known as corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia, is related to corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome. An important gene associated with Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia is IGBP1 (Immunoglobulin Binding Protein 1). Affiliated tissues include eye, and related phenotypes are macrocephaly and low-set ears

KEGG : 36 This syndrome is a condition with a unique pattern of malformations that includes coloboma (iris, optic nerve), high forehead, severe retrognathia, mental retardation, and agenesis of the corpus callosum. This syndrome is caused by mutations in 5-prime region of IGBP1 gene, a regulatory subunit of the major cellular phosphatase PP2A.

More information from OMIM: 300472 PS309510

Related Diseases for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

Diseases related to Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 1, show less)
# Related Disease Score Top Affiliating Genes
1 corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 12.1

Symptoms & Phenotypes for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

Human phenotypes related to Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia:

58 31 (showing 26, show less)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macrocephaly 58 31 Very frequent (99-80%) HP:0000256
2 low-set ears 58 31 Very frequent (99-80%) HP:0000369
3 short neck 58 31 Very frequent (99-80%) HP:0000470
4 pectus excavatum 58 31 Very frequent (99-80%) HP:0000767
5 agenesis of corpus callosum 58 31 Very frequent (99-80%) HP:0001274
6 intellectual disability 58 31 Very frequent (99-80%) HP:0001249
7 scoliosis 58 31 Very frequent (99-80%) HP:0002650
8 high palate 58 31 Frequent (79-30%) HP:0000218
9 short stature 58 31 Very frequent (99-80%) HP:0004322
10 downslanted palpebral fissures 58 31 Very frequent (99-80%) HP:0000494
11 sensorineural hearing impairment 58 31 Very frequent (99-80%) HP:0000407
12 retrognathia 58 31 Very frequent (99-80%) HP:0000278
13 high forehead 58 31 Very frequent (99-80%) HP:0000348
14 iris coloboma 58 31 Frequent (79-30%) HP:0000612
15 optic nerve coloboma 58 31 Frequent (79-30%) HP:0000588
16 cupped ear 58 31 Very frequent (99-80%) HP:0000378
17 nystagmus 58 Very frequent (99-80%)
18 hearing impairment 58 Very frequent (99-80%)
19 ventricular septal defect 58 Frequent (79-30%)
20 visual impairment 31 HP:0000505
21 cleft palate 58 Frequent (79-30%)
22 patent ductus arteriosus 58 Frequent (79-30%)
23 broad neck 31 HP:0000475
24 abnormality of the pinna 58 Very frequent (99-80%)
25 prominent nasal bridge 58 Frequent (79-30%)
26 choanal atresia 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly

Head And Neck Neck:
short neck
broad neck

Skeletal Spine:
scoliosis

Head And Neck Face:
retrognathia
high forehead

Neurologic Central Nervous System:
agenesis of the corpus callosum
mental retardation

Head And Neck Ears:
low-set ears
sensorineural hearing loss
cupped ears

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum

Growth Height:
short stature

Head And Neck Eyes:
downslanting palpebral fissures
impaired vision
coloboma (iris or optic nerve)

Head And Neck Mouth:
high-arched palate

Clinical features from OMIM:

300472

Drugs & Therapeutics for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

Search Clinical Trials , NIH Clinical Center for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia

Genetic Tests for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

Genetic tests related to Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia:

# Genetic test Affiliating Genes
1 Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia 29 IGBP1

Anatomical Context for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

MalaCards organs/tissues related to Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia:

40
Eye

Publications for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

Articles related to Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia:

(showing 1, show less)
# Title Authors PMID Year
1
A new X-linked syndrome with agenesis of the corpus callosum, mental retardation, coloboma, micrognathia, and a mutation in the Alpha 4 gene at Xq13. 56 6
14556245 2003

Variations for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

ClinVar genetic disease variations for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia:

6 (showing 1, show less) ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 IGBP1 IGBP1, -57delT and -55T-A, 5-PRIME UTRdeletion Pathogenic 11573

Expression for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

Search GEO for disease gene expression data for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular Coloboma, and Micrognathia.

Pathways for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

GO Terms for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

Sources for Corpus Callosum, Agenesis of, with Mental Retardation, Ocular...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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