MCID: OHD001
MIFTS: 8

Ohdo Syndrome, Maat-Kievit-Brunner Type

Categories: Neuronal diseases, Mental 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 25 69
Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type 25
Ohdo Syndrome, Mkb Type 25
X-Linked Ohdo Syndrome 25
Bmrs, Mkb Type 25

Classifications:



Summaries for Ohdo Syndrome, Maat-Kievit-Brunner Type

Genetics Home Reference : 25 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:

id Related Disease Score Top Affiliating Genes
1 ohdo syndrome, x-linked 11.5
2 ohdo syndrome 10.4

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:

id 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
id 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
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16 ExPASy
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34 ICD10 via Orphanet
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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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