MCID: OHD004
MIFTS: 36

Ohdo Syndrome

Categories: Neuronal diseases, Fetal diseases, Rare diseases, Oral diseases, Mental diseases

Aliases & Classifications for Ohdo Syndrome

MalaCards integrated aliases for Ohdo Syndrome:

Name: Ohdo Syndrome 54 12 56 14
Blepharophimosis Syndrome Ohdo Type 42 69
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis and Hypoplastic Teeth 29
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 56
Blepharophimosis Syndrome, Ohdo Type 56
Ohdo Blepharophimosis Syndrome 12
Ohdo-Madokoro-Sonoda Syndrome 56
Bmrs, Ohdo Type 56

Characteristics:

Orphanet epidemiological data:

56
blepharophimosis-intellectual disability syndrome, ohdo type
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases have been sporadic


HPO:

32
ohdo syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Ohdo Syndrome

Disease Ontology : 12 A syndrome that is characterized by blepharophimosis, ptosis, dental hypoplasia, hearing impairment and intellectual disability.

MalaCards based summary : Ohdo Syndrome, also known as blepharophimosis syndrome ohdo type, is related to genitopatellar syndrome and say-barber-biesecker variant of ohdo syndrome, and has symptoms including short stature, seizures and ptosis. An important gene associated with Ohdo Syndrome is MED12 (Mediator Complex Subunit 12), and among its related pathways/superpathways is Regulation of Wnt-mediated beta catenin signaling and target gene transcription. Affiliated tissues include heart, and related phenotype is Decreased shRNA abundance (Z-score < -2).

Description from OMIM: 249620

Related Diseases for Ohdo Syndrome

Graphical network of the top 20 diseases related to Ohdo Syndrome:



Diseases related to Ohdo Syndrome

Symptoms & Phenotypes for Ohdo Syndrome

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Abdomen- Gastroin testinal:
feeding problems

Laboratory- Abnormalities:
proteinuria

Head And Neck- Nose:
depressed nasal bridge
wide nasal bridge
short, upturned nose

Head And Neck- Mouth:
small mouth
thin vermilion

Skeletal- Hands:
fifth finger clinodactyly

Genitourinary- External Genitalia Male:
scrotal hypoplasia

Skin Nails & Hair- Hair:
sparse eyebrows

Neurologic- Central Nervous System:
hypotonia
mental retardation
seizures

Head And Neck- Eyes:
ptosis
epicanthal folds
blepharophimosis
sparse eyebrows

Head And Neck- Face:
micrognathia
long, flat philtrum

Skeletal:
joint laxity

Genitourinary- Internal Genitalia Male:
cryptorchidism

Head And Neck- Ears:
small ears
deafness
simple ears
external auditory canal stenosis

Head And Neck- Teeth:
widely spaced teeth

Skeletal- Feet:
overriding 3rd toes


Clinical features from OMIM:

249620

Human phenotypes related to Ohdo Syndrome:

32 (show all 30)
id Description HPO Frequency HPO Source Accession
1 short stature 32 HP:0004322
2 seizures 32 HP:0001250
3 ptosis 32 HP:0000508
4 proteinuria 32 HP:0000093
5 micrognathia 32 HP:0000347
6 depressed nasal bridge 32 HP:0005280
7 joint laxity 32 HP:0001388
8 short nose 32 HP:0003196
9 anteverted nares 32 HP:0000463
10 cryptorchidism 32 HP:0000028
11 intellectual disability 32 HP:0001249
12 thin vermilion border 32 HP:0000233
13 long philtrum 32 HP:0000343
14 wide nasal bridge 32 HP:0000431
15 scrotal hypoplasia 32 HP:0000046
16 smooth philtrum 32 HP:0000319
17 widely spaced teeth 32 HP:0000687
18 blepharophimosis 32 HP:0000581
19 epicanthus 32 HP:0000286
20 muscular hypotonia 32 HP:0001252
21 feeding difficulties in infancy 32 HP:0008872
22 microtia 32 HP:0008551
23 hearing impairment 32 HP:0000365
24 narrow mouth 32 HP:0000160
25 abnormality of the foot 32 HP:0001760
26 clinodactyly of the 5th finger 32 HP:0004209
27 stenosis of the external auditory canal 32 HP:0000402
28 abnormality of cardiovascular system morphology 32 HP:0030680
29 hypoplasia of teeth 32 HP:0000685
30 sparse and thin eyebrow 32 HP:0000535

UMLS symptoms related to Ohdo Syndrome:


seizures, joint laxity

GenomeRNAi Phenotypes related to Ohdo Syndrome according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased shRNA abundance (Z-score < -2) GR00366-A-104 9.86 MED12
2 Decreased shRNA abundance (Z-score < -2) GR00366-A-148 9.86 MED13L
3 Decreased shRNA abundance (Z-score < -2) GR00366-A-150 9.86 MED12
4 Decreased shRNA abundance (Z-score < -2) GR00366-A-153 9.86 MED12
5 Decreased shRNA abundance (Z-score < -2) GR00366-A-17 9.86 MED12
6 Decreased shRNA abundance (Z-score < -2) GR00366-A-191 9.86 MED12 MED13L YWHAE
7 Decreased shRNA abundance (Z-score < -2) GR00366-A-26 9.86 MED12
8 Decreased shRNA abundance (Z-score < -2) GR00366-A-34 9.86 MED12
9 Decreased shRNA abundance (Z-score < -2) GR00366-A-40 9.86 MED12
10 Decreased shRNA abundance (Z-score < -2) GR00366-A-71 9.86 MED13L
11 Decreased shRNA abundance (Z-score < -2) GR00366-A-72 9.86 MED13L YWHAE
12 Decreased shRNA abundance (Z-score < -2) GR00366-A-89 9.86 MED12
13 Decreased shRNA abundance (Z-score < -2) GR00366-A-95 9.86 MED12
14 Increased shRNA abundance (Z-score > 2) GR00366-A-122 9.36 FOXL2 MED13L YWHAE
15 Increased shRNA abundance (Z-score > 2) GR00366-A-125 9.36 FOXL2
16 Increased shRNA abundance (Z-score > 2) GR00366-A-130 9.36 YWHAE
17 Increased shRNA abundance (Z-score > 2) GR00366-A-149 9.36 FOXL2
18 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.36 MED13L
19 Increased shRNA abundance (Z-score > 2) GR00366-A-198 9.36 MED13L
20 Increased shRNA abundance (Z-score > 2) GR00366-A-67 9.36 FOXL2
21 Increased shRNA abundance (Z-score > 2) GR00366-A-74 9.36 YWHAE
22 Increased shRNA abundance (Z-score > 2) GR00366-A-9 9.36 FOXL2

Drugs & Therapeutics for Ohdo Syndrome

Search Clinical Trials , NIH Clinical Center for Ohdo Syndrome

Cochrane evidence based reviews: blepharophimosis syndrome ohdo type

Genetic Tests for Ohdo Syndrome

Genetic tests related to Ohdo Syndrome:

id Genetic test Affiliating Genes
1 Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis and Hypoplastic Teeth 29

Anatomical Context for Ohdo Syndrome

MalaCards organs/tissues related to Ohdo Syndrome:

39
Heart

Publications for Ohdo Syndrome

Articles related to Ohdo Syndrome:

(show all 15)
id Title Authors Year
1
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. ( 28794916 )
2017
2
A Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome with a KAT6B 10-base pair palindromic duplication: a recurrent mutation causing a severe phenotype mixed with genitopatellar syndrome. ( 27696664 )
2016
3
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. ( 26338144 )
2015
4
Mutations in MED12 cause X-linked Ohdo syndrome. ( 23395478 )
2013
5
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber- Biesecker variant of Ohdo syndrome. ( 22077973 )
2011
6
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. ( 18798845 )
2008
7
Blepharophimosis-mental retardation (BMR) syndromes: A proposed clinical classification of the so-called Ohdo syndrome, and delineation of two new BMR syndromes, one X-linked and one autosomal recessive. ( 16700052 )
2006
8
Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations. ( 15127758 )
2004
9
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. ( 12868473 )
2003
10
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome. ( 10955481 )
2000
11
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome? ( 10631927 )
1999
12
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome? ( 9546834 )
1998
13
Ohdo syndrome: report on a Brazilian girl with additional findings. ( 9184251 )
1997
14
A case with blepharophimosis resembling Ohdo syndrome. ( 8055131 )
1994
15
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. ( 7519949 )
1994

Variations for Ohdo Syndrome

Expression for Ohdo Syndrome

Search GEO for disease gene expression data for Ohdo Syndrome.

Pathways for Ohdo Syndrome

Pathways related to Ohdo Syndrome according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1 10.52 MED12 YWHAE

GO Terms for Ohdo Syndrome

Cellular components related to Ohdo Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 mediator complex GO:0016592 8.8 GLI3 MED12 MED13L

Biological processes related to Ohdo Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 transcription, DNA-templated GO:0006351 9.77 FOXL2 GLI3 KAT6B MED12 MED13L
2 positive regulation of transcription from RNA polymerase II promoter GO:0045944 9.62 FOXL2 GLI3 KAT6B MED12
3 hippocampus development GO:0021766 9.26 GLI3 YWHAE
4 neural tube development GO:0021915 9.16 GLI3 MED12
5 embryonic organ development GO:0048568 8.96 GLI3 MED12
6 positive regulation of transcription, DNA-templated GO:0045893 8.92 FOXL2 GLI3 KAT6B MED12

Molecular functions related to Ohdo Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 8.96 GLI3 MED12
2 RNA polymerase II transcription cofactor activity GO:0001104 8.62 MED12 MED13L

Sources for Ohdo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
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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