MCID: OHD004
MIFTS: 40

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 57 12 59 15
Blepharophimosis Syndrome Ohdo Type 44 73
Ohdo Blepharophimosis Syndrome 57 12
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis, and Hypoplastic Teeth 57
Mental Retardation, Congenital Heart Disease, Blepharophimosis, Blepharoptosis and Hypoplastic Teeth 29
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type 59
Blepharophimosis Syndrome, Ohdo Type 59
Ohdo-Madokoro-Sonoda Syndrome 59
Bmrs, Ohdo Type 59

Characteristics:

Orphanet epidemiological data:

59
blepharophimosis-intellectual disability syndrome, ohdo type
Inheritance: Not applicable; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
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 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

Symptoms via clinical synopsis from OMIM:

57
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

GenitourinaryInternal GenitaliaMale:
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

Human phenotypes related to Ohdo Syndrome:

59 32 (show all 48)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000508
2 hearing impairment 59 32 hallmark (90%) Very frequent (99-80%) HP:0000365
3 widely spaced teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000687
4 delayed speech and language development 59 32 hallmark (90%) Very frequent (99-80%) HP:0000750
5 microtia 59 32 hallmark (90%) Very frequent (99-80%) HP:0008551
6 microcephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000252
7 proteinuria 59 32 hallmark (90%) Very frequent (99-80%) HP:0000093
8 intellectual disability, mild 59 32 hallmark (90%) Very frequent (99-80%) HP:0001256
9 cleft palate 59 32 frequent (33%) Frequent (79-30%) HP:0000175
10 microdontia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000691
11 cryptorchidism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000028
12 intrauterine growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001511
13 postnatal growth retardation 59 32 hallmark (90%) Very frequent (99-80%) HP:0008897
14 recurrent otitis media 59 32 hallmark (90%) Very frequent (99-80%) HP:0000403
15 atrial septal defect 59 32 frequent (33%) Frequent (79-30%) HP:0001631
16 microphthalmia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000568
17 amblyopia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000646
18 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
19 motor delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001270
20 scrotal hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000046
21 abnormal palmar dermatoglyphics 59 32 hallmark (90%) Very frequent (99-80%) HP:0001018
22 heart murmur 59 32 hallmark (90%) Very frequent (99-80%) HP:0030148
23 hypoplasia of teeth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000685
24 multiple bladder diverticula 59 32 frequent (33%) Frequent (79-30%) HP:0012619
25 neonatal asphyxia 59 32 frequent (33%) Frequent (79-30%) HP:0012768
26 intellectual disability 32 HP:0001249
27 seizures 32 HP:0001250
28 muscular hypotonia 32 HP:0001252
29 depressed nasal bridge 32 HP:0005280
30 wide nasal bridge 32 HP:0000431
31 short nose 32 HP:0003196
32 smooth philtrum 32 HP:0000319
33 anteverted nares 32 HP:0000463
34 short stature 32 HP:0004322
35 feeding difficulties in infancy 32 HP:0008872
36 long philtrum 32 HP:0000343
37 micrognathia 32 HP:0000347
38 epicanthus 32 HP:0000286
39 abnormality of the foot 32 HP:0001760
40 clinodactyly of the 5th finger 32 HP:0004209
41 narrow mouth 32 HP:0000160
42 joint laxity 32 HP:0001388
43 thin vermilion border 32 HP:0000233
44 stenosis of the external auditory canal 32 HP:0000402
45 abnormality of cardiovascular system morphology 32 HP:0030680
46 generalized hypotonia 32 HP:0001290
47 abnormality of the outer ear 59 Very frequent (99-80%)
48 sparse and thin eyebrow 32 HP:0000535

UMLS symptoms related to Ohdo Syndrome:


seizures

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

26 (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 MED13L YWHAE MED12
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 YWHAE MED13L
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 29

Anatomical Context for Ohdo Syndrome

MalaCards organs/tissues related to Ohdo Syndrome:

41
Heart

Publications for Ohdo Syndrome

Articles related to Ohdo Syndrome:

(show all 15)
# 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
Blepharophimosis, ptosis and mental retardation: further delineation of Ohdo syndrome. ( 7519949 )
1994
15
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 8.8 GLI3 MED12 MED13L

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

# 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 by RNA polymerase II 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:

# Name GO ID Score Top Affiliating Genes
1 beta-catenin binding GO:0008013 8.62 GLI3 MED12

Sources for Ohdo Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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