MCID: OHD001
MIFTS: 12

Ohdo Syndrome, Maat-Kievit-Brunner Type

Categories: Ear diseases, 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 43 70
Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type 43
Ohdo Syndrome, Mkb Type 43
X-Linked Ohdo Syndrome 43
Bmrs, Mkb Type 43

Classifications:



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UMLS 70 C3698541

Summaries for Ohdo Syndrome, Maat-Kievit-Brunner Type

MedlinePlus Genetics : 43 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.The intellectual disability associated with this condition varies from mild to severe, and the development of motor skills (such as sitting, standing, and walking) is delayed. Some affected individuals also have behavioral problems.Distinctive facial features often seen in this condition include a narrowing of the eye opening (blepharophimosis), droopy eyelids (ptosis), prominent cheeks, a broad nasal bridge, a nose with a rounded tip, a large space between the nose and upper lip (a long philtrum), and a narrow mouth. Some affected individuals also have widely set eyes (hypertelorism), an unusually small chin (micrognathia), and small and low-set ears. As people with the condition get older, these facial characteristics become more pronounced and the face becomes more triangular.Other possible signs of this condition include dental problems, weak muscle tone (hypotonia), and hearing loss.

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. Affiliated tissues include eye.

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 11.8
2 ohdo syndrome 10.5
3 alacrima, achalasia, and mental retardation syndrome 10.5
4 blepharophimosis 10.5
5 med12-related disorders 10.1

Graphical network of the top 20 diseases related to Ohdo Syndrome, Maat-Kievit-Brunner Type:



Diseases related to Ohdo Syndrome, Maat-Kievit-Brunner Type

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

MalaCards organs/tissues related to Ohdo Syndrome, Maat-Kievit-Brunner Type:

40
Eye

Publications for Ohdo Syndrome, Maat-Kievit-Brunner Type

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

# Title Authors PMID Year
1
A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12. 61
31322785 2020
2
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. 61
28794916 2017
3
A novel variant in MED12 gene: Further delineation of phenotype. 61
28544239 2017
4
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
5
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
6
MED12 related disorders. 61
24123922 2013
7
Mutations in MED12 cause X-linked Ohdo syndrome. 61
23395478 2013
8
MED12-Related Disorders 61
20301719 2008

Variations for Ohdo Syndrome, Maat-Kievit-Brunner Type

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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