MCID: OHD004
MIFTS: 40

Ohdo Syndrome

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

Aliases & Classifications for Ohdo Syndrome

MalaCards integrated aliases for Ohdo Syndrome:

Name: Ohdo Syndrome 58 12 60 15
Blepharophimosis Syndrome Ohdo Type 45 74
Ohdo Blepharophimosis Syndrome 58 12
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, and Hypoplastic Teeth 58
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis and Hypoplastic Teeth 30
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 60
Blepharophimosis Syndrome, Ohdo Type 60
Ohdo-Madokoro-Sonoda Syndrome 60
Bmrs, Ohdo Type 60

Characteristics:

Orphanet epidemiological data:

60
blepharophimosis-intellectual disability syndrome, ohdo type
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
majority of cases have been sporadic


HPO:

33
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 ohdo syndrome, sbbys variant and blepharophimosis, and has symptoms including seizures 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 phenotypes are ptosis and hearing impairment

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

Human phenotypes related to Ohdo Syndrome:

60 33 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000508
2 hearing impairment 60 33 hallmark (90%) Very frequent (99-80%) HP:0000365
3 widely spaced teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000687
4 delayed speech and language development 60 33 hallmark (90%) Very frequent (99-80%) HP:0000750
5 microtia 60 33 hallmark (90%) Very frequent (99-80%) HP:0008551
6 microcephaly 60 33 hallmark (90%) Very frequent (99-80%) HP:0000252
7 proteinuria 60 33 hallmark (90%) Very frequent (99-80%) HP:0000093
8 intellectual disability, mild 60 33 hallmark (90%) Very frequent (99-80%) HP:0001256
9 microdontia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000691
10 cryptorchidism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000028
11 intrauterine growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0001511
12 postnatal growth retardation 60 33 hallmark (90%) Very frequent (99-80%) HP:0008897
13 recurrent otitis media 60 33 hallmark (90%) Very frequent (99-80%) HP:0000403
14 motor delay 60 33 hallmark (90%) Very frequent (99-80%) HP:0001270
15 microphthalmia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000568
16 amblyopia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000646
17 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
18 scrotal hypoplasia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000046
19 abnormal palmar dermatoglyphics 60 33 hallmark (90%) Very frequent (99-80%) HP:0001018
20 heart murmur 60 33 hallmark (90%) Very frequent (99-80%) HP:0030148
21 hypoplasia of teeth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000685
22 cleft palate 60 33 frequent (33%) Frequent (79-30%) HP:0000175
23 atrial septal defect 60 33 frequent (33%) Frequent (79-30%) HP:0001631
24 neonatal asphyxia 60 33 frequent (33%) Frequent (79-30%) HP:0012768
25 multiple bladder diverticula 60 33 frequent (33%) Frequent (79-30%) HP:0012619
26 intellectual disability 33 HP:0001249
27 seizures 33 HP:0001250
28 muscular hypotonia 33 HP:0001252
29 depressed nasal bridge 33 HP:0005280
30 wide nasal bridge 33 HP:0000431
31 short nose 33 HP:0003196
32 smooth philtrum 33 HP:0000319
33 anteverted nares 33 HP:0000463
34 short stature 33 HP:0004322
35 feeding difficulties in infancy 33 HP:0008872
36 long philtrum 33 HP:0000343
37 micrognathia 33 HP:0000347
38 epicanthus 33 HP:0000286
39 abnormality of the foot 33 HP:0001760
40 joint laxity 33 HP:0001388
41 clinodactyly of the 5th finger 33 HP:0004209
42 narrow mouth 33 HP:0000160
43 thin vermilion border 33 HP:0000233
44 stenosis of the external auditory canal 33 HP:0000402
45 generalized hypotonia 33 HP:0001290
46 abnormality of cardiovascular system morphology 33 HP:0030680
47 abnormality of the outer ear 60 Very frequent (99-80%)
48 sparse and thin eyebrow 33 HP:0000535

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
ptosis
blepharophimosis
epicanthal folds
sparse eyebrows

Head And Neck Teeth:
widely spaced teeth

Growth Height:
short stature

Head And Neck Face:
micrognathia
long, flat philtrum

Skeletal:
joint laxity

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

Head And Neck Mouth:
small mouth
thin vermilion

Abdomen Gastrointestinal:
feeding problems

Neurologic Central Nervous System:
seizures
hypotonia
mental retardation

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

Laboratory Abnormalities:
proteinuria

Genitourinary Internal Genitalia Male:
cryptorchidism

Genitourinary External Genitalia Male:
scrotal hypoplasia

Skeletal Hands:
fifth finger clinodactyly

Skin Nails Hair Hair:
sparse eyebrows

Skeletal Feet:
overriding 3rd toes

Clinical features from OMIM:

249620

UMLS symptoms related to Ohdo Syndrome:


seizures

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

27 (show all 22)
# 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:

# Genetic test Affiliating Genes
1 Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis and Hypoplastic Teeth 30

Anatomical Context for Ohdo Syndrome

MalaCards organs/tissues related to Ohdo Syndrome:

42
Heart

Publications for Ohdo Syndrome

Articles related to Ohdo Syndrome:

(show all 16)
# Title Authors Year
1
Chronic Otitis Media Associated with Cholesteatoma in a Case of the Say-Barber-Biesecker-Young-Simpson Variant of Ohdo Syndrome. ( 30739122 )
2019
2
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. ( 28794916 )
2017
3
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
4
Beyond Ohdo syndrome: A familial missense mutation broadens the MED12 spectrum. ( 26338144 )
2015
5
Mutations in MED12 cause X-linked Ohdo syndrome. ( 23395478 )
2013
6
Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber- Biesecker variant of Ohdo syndrome. ( 22077973 )
2011
7
A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. ( 18798845 )
2008
8
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
9
Skeletal manifestations in Ohdo syndrome: a case with bilateral patella dislocations. ( 15127758 )
2004
10
Two further cases of Ohdo syndrome delineate the phenotypic variability of the condition. ( 12868473 )
2003
11
A boy with mental retardation, blepharophimosis and hypothyroidism: a diagnostic dilemma between Young-Simpson and Ohdo syndrome. ( 10955481 )
2000
12
Congenital blepharophimosis and ptosis in a mentally retarded girl: a new case of Ohdo syndrome? ( 10631927 )
1999
13
Congenital ptosis and blepharophimosis in a mentally retarded girl: a new case of Ohdo syndrome? ( 9546834 )
1998
14
Ohdo syndrome: report on a Brazilian girl with additional findings. ( 9184251 )
1997
15
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. ( 7519949 )
1994
16
A case with blepharophimosis resembling Ohdo syndrome. ( 8055131 )
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:

# 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:

# Name GO ID Score Top Affiliating Genes
1 mediator complex GO:0016592 8.62 MED12 MED13L

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

# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 9.56 FOXL2 GLI3 KAT6B MED12
2 neural tube development GO:0021915 9.16 GLI3 MED12
3 embryonic organ development GO:0048568 8.96 GLI3 MED12
4 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:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 8.96 GLI3 MED12
2 transcription coregulator activity GO:0003712 8.62 MED12 MED13L

Sources for Ohdo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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