MCID: OHD001
MIFTS: 9

Ohdo Syndrome, Maat-Kievit-Brunner Type

Categories: Mental diseases, Neuronal diseases

Aliases & Classifications for Ohdo Syndrome, Maat-Kievit-Brunner Type

MalaCards integrated aliases for Ohdo Syndrome, Maat-Kievit-Brunner Type:

Name: Ohdo Syndrome, Maat-Kievit-Brunner Type 24 69
Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type 24
Ohdo Syndrome, Mkb Type 24
X-Linked Ohdo Syndrome 24
Bmrs, Mkb Type 24

Classifications:



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UMLS 69 C3698541

Summaries for Ohdo Syndrome, Maat-Kievit-Brunner Type

Genetics Home Reference : 24 The Maat-Kievit-Brunner type of Ohdo syndrome is a rare condition characterized by intellectual disability and distinctive facial features. It has only been reported in males.

MalaCards based summary : Ohdo Syndrome, Maat-Kievit-Brunner Type, also known as blepharophimosis-mental retardation syndrome, maat-kievit-brunner type, is related to ohdo syndrome, x-linked and ohdo syndrome. An important gene associated with Ohdo Syndrome, Maat-Kievit-Brunner Type is MED12 (Mediator Complex Subunit 12).

Related Diseases for Ohdo Syndrome, Maat-Kievit-Brunner Type

Diseases related to Ohdo Syndrome, Maat-Kievit-Brunner Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ohdo syndrome, x-linked 12.1
2 ohdo syndrome 10.5

Symptoms & Phenotypes for Ohdo Syndrome, Maat-Kievit-Brunner Type

Drugs & Therapeutics for Ohdo Syndrome, Maat-Kievit-Brunner Type

Search Clinical Trials , NIH Clinical Center for Ohdo Syndrome, Maat-Kievit-Brunner Type

Genetic Tests for Ohdo Syndrome, Maat-Kievit-Brunner Type

Anatomical Context for Ohdo Syndrome, Maat-Kievit-Brunner Type

Publications for Ohdo Syndrome, Maat-Kievit-Brunner Type

Articles related to Ohdo Syndrome, Maat-Kievit-Brunner Type:

# Title Authors Year
1
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. ( 28794916 )
2017

Variations for Ohdo Syndrome, Maat-Kievit-Brunner Type

ClinVar genetic disease variations for Ohdo Syndrome, Maat-Kievit-Brunner Type:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.3443G> A (p.Arg1148His) single nucleotide variant Pathogenic rs387907360 GRCh37 Chromosome X, 70348536: 70348536
2 MED12 NM_005120.2(MED12): c.3493T> C (p.Ser1165Pro) single nucleotide variant Pathogenic rs387907361 GRCh37 Chromosome X, 70348981: 70348981
3 MED12 NM_005120.2(MED12): c.5185C> A (p.His1729Asn) single nucleotide variant Pathogenic rs387907362 GRCh37 Chromosome X, 70356290: 70356290

Expression for Ohdo Syndrome, Maat-Kievit-Brunner Type

Search GEO for disease gene expression data for Ohdo Syndrome, Maat-Kievit-Brunner Type.

Pathways for Ohdo Syndrome, Maat-Kievit-Brunner Type

GO Terms for Ohdo Syndrome, Maat-Kievit-Brunner Type

Sources for Ohdo Syndrome, Maat-Kievit-Brunner Type

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10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
27 GO
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30 HMDB
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33 ICD10 via Orphanet
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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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