OHDOX
MCID: OHD003
MIFTS: 29

Ohdo Syndrome, X-Linked (OHDOX)

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

Aliases & Classifications for Ohdo Syndrome, X-Linked

MalaCards integrated aliases for Ohdo Syndrome, X-Linked:

Name: Ohdo Syndrome, X-Linked 57 72 29 13 6 39
Ohdox 57 72
Blepharophimosis-Intellectual Disability Syndrome, Maat-Kievit-Brunner Type 58
Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type 57
Blepharophimosis-Mental Retardation Syndrome Maat-Kievit-Brunner Type 72
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type 58
Ohdo Syndrome, Maat-Kievit-Brunner Type 70
Ohdo Syndrome Maat-Kievit-Brunner Type 72
Bmrs, Maat-Kievit-Brunner Type 58
X-Linked Ohdo Syndrome 58
Ohdo Syndrome Mkb Type 72
Bmrs, Mkb Type 58

Characteristics:

Orphanet epidemiological data:

58
blepharophimosis-intellectual disability syndrome, mkb type
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
x-linked recessive


HPO:

31
ohdo syndrome, x-linked:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Ohdo Syndrome, X-Linked

UniProtKB/Swiss-Prot : 72 Ohdo syndrome, X-linked: A syndrome characterized by mental retardation, feeding problems, and distinctive facial appearance with coarse facial features, severe blepharophimosis, ptosis, a bulbous nose, micrognathia and a small mouth. Dental hypoplasia and deafness can be considered as common manifestations of the syndrome. Male patients show cryptorchidism and scrotal hypoplasia.

MalaCards based summary : Ohdo Syndrome, X-Linked, also known as ohdox, is related to ohdo syndrome, maat-kievit-brunner type and ohdo syndrome. An important gene associated with Ohdo Syndrome, X-Linked is MED12 (Mediator Complex Subunit 12). Related phenotypes are intellectual disability and coarse facial features

More information from OMIM: 300895

Related Diseases for Ohdo Syndrome, X-Linked

Diseases related to Ohdo Syndrome, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ohdo syndrome, maat-kievit-brunner type 11.7
2 ohdo syndrome 10.3
3 alacrima, achalasia, and mental retardation syndrome 10.3
4 blepharophimosis 10.3
5 med12-related disorders 10.1

Graphical network of the top 20 diseases related to Ohdo Syndrome, X-Linked:



Diseases related to Ohdo Syndrome, X-Linked

Symptoms & Phenotypes for Ohdo Syndrome, X-Linked

Human phenotypes related to Ohdo Syndrome, X-Linked:

58 31 (show all 25)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 frequent (33%) Frequent (79-30%) HP:0001249
2 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
3 thick nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0009928
4 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
5 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581
6 triangular face 58 31 frequent (33%) Frequent (79-30%) HP:0000325
7 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
8 infantile muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0008947
9 ptosis 31 HP:0000508
10 hearing impairment 31 HP:0000365
11 global developmental delay 31 HP:0001263
12 depressed nasal bridge 31 HP:0005280
13 wide nasal bridge 31 HP:0000431
14 smooth philtrum 31 HP:0000319
15 cryptorchidism 31 HP:0000028
16 micrognathia 31 HP:0000347
17 joint hypermobility 31 HP:0001382
18 narrow mouth 31 HP:0000160
19 long philtrum 31 HP:0000343
20 thin vermilion border 31 HP:0000233
21 decreased body weight 31 HP:0004325
22 scrotal hypoplasia 31 HP:0000046
23 feeding difficulties 31 HP:0011968
24 cafe-au-lait spot 31 HP:0000957
25 clinodactyly 31 HP:0030084

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Eyes:
ptosis
blepharophimosis

Head And Neck Nose:
depressed nasal bridge
wide nasal bridge
bulbous nose
large nose

Head And Neck Mouth:
micrognathia
long philtrum
microstomia
flat philtrum
thin vermilion

Neurologic Central Nervous System:
developmental delay
mental retardation

Growth Weight:
low weight

Immunology:
recurrent infections (in some patients)
low igg levels (in 1 patient)
low cd19+ levels (in some patients)

Skin Nails Hair Skin:
cafe-au-lait spots

Cardiovascular Heart:
tetralogy of fallot (in 1 patient)
atrioventricular canal with pulmonic stenosis (in 1 patient)

Head And Neck Face:
coarse facial features

Genitourinary Internal Genitalia Male:
cryptorchidism
scrotal hypoplasia

Skeletal Hands:
clinodactyly

Head And Neck Ears:
deafness

Abdomen Gastrointestinal:
feeding problems

Skeletal Limbs:
joint hyperextensibility

Skeletal Feet:
overriding 3rd toes

Clinical features from OMIM®:

300895 (Updated 05-Apr-2021)

Drugs & Therapeutics for Ohdo Syndrome, X-Linked

Search Clinical Trials , NIH Clinical Center for Ohdo Syndrome, X-Linked

Genetic Tests for Ohdo Syndrome, X-Linked

Genetic tests related to Ohdo Syndrome, X-Linked:

# Genetic test Affiliating Genes
1 Ohdo Syndrome, X-Linked 29 MED12

Anatomical Context for Ohdo Syndrome, X-Linked

Publications for Ohdo Syndrome, X-Linked

Articles related to Ohdo Syndrome, X-Linked:

(show all 17)
# Title Authors PMID Year
1
Mutations in MED12 cause X-linked Ohdo syndrome. 57 61 6
23395478 2013
2
Siblings with a novel MED12 variant and Odho syndrome with immune defects. 6 57
32715471 2020
3
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. 6 57
16700052 2006
4
Two additional cases of the Ohdo blepharophimosis syndrome. 57 6
8279489 1993
5
MED12-related XLID disorders are dose-dependent of immediate early genes (IEGs) expression. 6
28369444 2017
6
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability. 6
26350204 2015
7
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
8
MED12 mutations link intellectual disability syndromes with dysregulated GLI3-dependent Sonic Hedgehog signaling. 6
23091001 2012
9
Behavioral features in young adults with FG syndrome (Opitz-Kaveggia syndrome). 6
20981778 2010
10
FG syndrome, an X-linked multiple congenital anomaly syndrome: the clinical phenotype and an algorithm for diagnostic testing. 6
19938245 2009
11
A recurrent mutation in MED12 leading to R961W causes Opitz-Kaveggia syndrome. 6
17334363 2007
12
A female patient with X-linked Ohdo syndrome of the Maat-Kievit-Brunner phenotype caused by a novel variant of MED12. 61
31322785 2020
13
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. 61
28794916 2017
14
A novel variant in MED12 gene: Further delineation of phenotype. 61
28544239 2017
15
Two male sibs with severe micrognathia and a missense variant in MED12. 61
27286923 2016
16
Blepharophimosis, short humeri, developmental delay and hirschsprung disease: expanding the phenotypic spectrum of MED12 mutations. 61
24715367 2014
17
MED12-Related Disorders 61
20301719 2008

Variations for Ohdo Syndrome, X-Linked

ClinVar genetic disease variations for Ohdo Syndrome, X-Linked:

6 (show all 20)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 MED12 NM_005120.3(MED12):c.3443G>A (p.Arg1148His) SNV Pathogenic 50279 rs387907360 GRCh37: X:70348536-70348536
GRCh38: X:71128686-71128686
2 MED12 NM_005120.3(MED12):c.3493T>C (p.Ser1165Pro) SNV Pathogenic 50280 rs387907361 GRCh37: X:70348981-70348981
GRCh38: X:71129131-71129131
3 MED12 NM_005120.3(MED12):c.5185C>A (p.His1729Asn) SNV Pathogenic 50281 rs387907362 GRCh37: X:70356290-70356290
GRCh38: X:71136440-71136440
4 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) SNV Pathogenic 11520 rs80338758 GRCh37: X:70347217-70347217
GRCh38: X:71127367-71127367
5 MED12 NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) SNV Pathogenic 11520 rs80338758 GRCh37: X:70347217-70347217
GRCh38: X:71127367-71127367
6 MED12 NM_005120.3(MED12):c.6476A>C (p.Gln2159Pro) SNV Pathogenic 427070 rs1085307941 GRCh37: X:70361800-70361800
GRCh38: X:71141950-71141950
7 MED12 NM_005120.3(MED12):c.5578C>T (p.Pro1860Ser) SNV Likely pathogenic 975295 GRCh37: X:70357063-70357063
GRCh38: X:71137213-71137213
8 MED12 NM_005120.3(MED12):c.6407A>G (p.Gln2136Arg) SNV Likely pathogenic 975296 GRCh37: X:70361219-70361219
GRCh38: X:71141369-71141369
9 MED12 NM_005120.3(MED12):c.1849A>G (p.Thr617Ala) SNV Likely pathogenic 213633 rs765417606 GRCh37: X:70344113-70344113
GRCh38: X:71124263-71124263
10 MED12 NM_005120.3(MED12):c.1039A>G (p.Ser347Gly) SNV Uncertain significance 213631 rs752300879 GRCh37: X:70341604-70341604
GRCh38: X:71121754-71121754
11 MED12 NM_005120.3(MED12):c.6097A>G (p.Met2033Val) SNV Uncertain significance 213627 rs372606012 GRCh37: X:70360537-70360537
GRCh38: X:71140687-71140687
12 MED12 NM_005120.3(MED12):c.3210-27C>T SNV Uncertain significance 522746 rs752463122 GRCh37: X:70348119-70348119
GRCh38: X:71128269-71128269
13 MED12 NM_005120.3(MED12):c.6267+166G>A SNV Uncertain significance 522927 rs1247198443 GRCh37: X:70360873-70360873
GRCh38: X:71141023-71141023
14 MED12 NM_005120.3(MED12):c.6177_6191del (p.Gln2072_Gln2076del) Deletion Uncertain significance 519565 rs767827315 GRCh37: X:70360603-70360617
GRCh38: X:71140753-71140767
15 MED12 NM_005120.3(MED12):c.2545T>C (p.Ser849Pro) SNV Uncertain significance 431098 rs1135401775 GRCh37: X:70346194-70346194
GRCh38: X:71126344-71126344
16 MED12 NM_005120.3(MED12):c.628G>C (p.Ala210Pro) SNV Uncertain significance 560275 rs1379201163 GRCh37: X:70340895-70340895
GRCh38: X:71121045-71121045
17 MED12 NM_005120.3(MED12):c.3946C>G (p.Gln1316Glu) SNV Uncertain significance 973226 GRCh37: X:70349963-70349963
GRCh38: X:71130113-71130113
18 MED12 NM_005120.3(MED12):c.2023C>T (p.Leu675Phe) SNV Uncertain significance 619996 GRCh37: X:70344662-70344662
GRCh38: X:71124812-71124812
19 MED12 NM_005120.3(MED12):c.1264C>T (p.Arg422Trp) SNV Uncertain significance 213632 rs368913305 GRCh37: X:70342373-70342373
GRCh38: X:71122523-71122523
20 MED12 NM_005120.3(MED12):c.5017_5019AAG[1] (p.Lys1674del) Microsatellite Uncertain significance 620067 GRCh37: X:70355095-70355097
GRCh38: X:71135245-71135247

UniProtKB/Swiss-Prot genetic disease variations for Ohdo Syndrome, X-Linked:

72
# Symbol AA change Variation ID SNP ID
1 MED12 p.Arg1148His VAR_069770 rs387907360
2 MED12 p.Ser1165Pro VAR_069771 rs387907361
3 MED12 p.His1729Asn VAR_069772 rs387907362

Expression for Ohdo Syndrome, X-Linked

Search GEO for disease gene expression data for Ohdo Syndrome, X-Linked.

Pathways for Ohdo Syndrome, X-Linked

GO Terms for Ohdo Syndrome, X-Linked

Sources for Ohdo Syndrome, X-Linked

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 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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