MCID: OHD003
MIFTS: 23

Ohdo Syndrome, X-Linked

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

Aliases & Classifications for Ohdo Syndrome, X-Linked

MalaCards integrated aliases for Ohdo Syndrome, X-Linked:

Name: Ohdo Syndrome, X-Linked 57 75 29 13 6 40
Ohdox 57 75
Blepharophimosis-Intellectual Disability Syndrome, Maat-Kievit-Brunner Type 59
Blepharophimosis-Mental Retardation Syndrome, Maat-Kievit-Brunner Type 57
Blepharophimosis-Mental Retardation Syndrome Maat-Kievit-Brunner Type 75
Blepharophimosis-Intellectual Disability Syndrome, Mkb Type 59
Ohdo Syndrome, Maat-Kievit-Brunner Type 73
Ohdo Syndrome Maat-Kievit-Brunner Type 75
Bmrs, Maat-Kievit-Brunner Type 59
X-Linked Ohdo Syndrome 59
Ohdo Syndrome Mkb Type 75
Bmrs, Mkb Type 59

Characteristics:

Orphanet epidemiological data:

59
blepharophimosis-intellectual disability syndrome, mkb type
Inheritance: X-linked recessive; Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
x-linked recessive


HPO:

32
ohdo syndrome, x-linked:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Ohdo Syndrome, X-Linked

UniProtKB/Swiss-Prot : 75 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. An important gene associated with Ohdo Syndrome, X-Linked is MED12 (Mediator Complex Subunit 12). Related phenotypes are cryptorchidism and scrotal hypoplasia

Description 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

Symptoms & Phenotypes for Ohdo Syndrome, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly

Head And Neck Face:
coarse facial features

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

Neurologic Central Nervous System:
developmental delay
mental retardation

Growth Weight:
low weight

Abdomen Gastrointestinal:
feeding problems

Skeletal Feet:
overriding 3rd toes

Head And Neck Eyes:
ptosis
blepharophimosis

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

GenitourinaryInternal GenitaliaMale:
cryptorchidism
scrotal hypoplasia

Head And Neck Ears:
deafness

Skeletal Limbs:
joint hyperextensibility

Skin Nails Hair Skin:
cafe-au-lait spots


Clinical features from OMIM:

300895

Human phenotypes related to Ohdo Syndrome, X-Linked:

32 (show all 22)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 scrotal hypoplasia 32 HP:0000046
3 narrow mouth 32 HP:0000160
4 thin vermilion border 32 HP:0000233
5 coarse facial features 32 HP:0000280
6 smooth philtrum 32 HP:0000319
7 long philtrum 32 HP:0000343
8 micrognathia 32 HP:0000347
9 hearing impairment 32 HP:0000365
10 bulbous nose 32 HP:0000414
11 wide nasal bridge 32 HP:0000431
12 prominent nose 32 HP:0000448
13 ptosis 32 HP:0000508
14 blepharophimosis 32 HP:0000581
15 cafe-au-lait spot 32 HP:0000957
16 intellectual disability 32 HP:0001249
17 global developmental delay 32 HP:0001263
18 joint hypermobility 32 HP:0001382
19 decreased body weight 32 HP:0004325
20 depressed nasal bridge 32 HP:0005280
21 feeding difficulties 32 HP:0011968
22 clinodactyly 32 HP:0030084

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:

# Title Authors Year
1
Clinical Variability in Familial X-Linked Ohdo Syndrome-Maat-Kievit-Brunner Type with MED12 Mutation. ( 28794916 )
2017

Variations for Ohdo Syndrome, X-Linked

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

75
# 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

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

6
(show all 18)
# Gene Variation Type Significance SNP ID Assembly Location
1 MED12 NM_005120.2(MED12): c.3443G> A (p.Arg1148His) single nucleotide variant Pathogenic rs387907360 GRCh37 Chromosome X, 70348536: 70348536
2 MED12 NM_005120.2(MED12): c.3443G> A (p.Arg1148His) single nucleotide variant Pathogenic rs387907360 GRCh38 Chromosome X, 71128686: 71128686
3 MED12 NM_005120.2(MED12): c.3493T> C (p.Ser1165Pro) single nucleotide variant Pathogenic rs387907361 GRCh37 Chromosome X, 70348981: 70348981
4 MED12 NM_005120.2(MED12): c.3493T> C (p.Ser1165Pro) single nucleotide variant Pathogenic rs387907361 GRCh38 Chromosome X, 71129131: 71129131
5 MED12 NM_005120.2(MED12): c.5185C> A (p.His1729Asn) single nucleotide variant Pathogenic rs387907362 GRCh37 Chromosome X, 70356290: 70356290
6 MED12 NM_005120.2(MED12): c.5185C> A (p.His1729Asn) single nucleotide variant Pathogenic rs387907362 GRCh38 Chromosome X, 71136440: 71136440
7 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh37 Chromosome X, 70354258: 70354258
8 MED12 NM_005120.2(MED12): c.4669T> C (p.Trp1557Arg) single nucleotide variant Likely pathogenic rs794727576 GRCh38 Chromosome X, 71134408: 71134408
9 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh37 Chromosome X, 70344113: 70344113
10 MED12 NM_005120.2(MED12): c.1849A> G (p.Thr617Ala) single nucleotide variant Conflicting interpretations of pathogenicity rs765417606 GRCh38 Chromosome X, 71124263: 71124263
11 MED12 NM_005120.2(MED12): c.2545T> C (p.Ser849Pro) single nucleotide variant Uncertain significance rs1135401775 GRCh37 Chromosome X, 70346194: 70346194
12 MED12 NM_005120.2(MED12): c.2545T> C (p.Ser849Pro) single nucleotide variant Uncertain significance rs1135401775 GRCh38 Chromosome X, 71126344: 71126344
13 MED12 NM_005120.2(MED12): c.6177_6191delACAGCAACAGCAGCA (p.Gln2072_Gln2076del) deletion Uncertain significance rs767827315 GRCh37 Chromosome X, 70360617: 70360631
14 MED12 NM_005120.2(MED12): c.6177_6191delACAGCAACAGCAGCA (p.Gln2072_Gln2076del) deletion Uncertain significance rs767827315 GRCh38 Chromosome X, 71140767: 71140781
15 MED12 NM_005120.2(MED12): c.3210-27C> T single nucleotide variant Uncertain significance rs752463122 GRCh37 Chromosome X, 70348119: 70348119
16 MED12 NM_005120.2(MED12): c.3210-27C> T single nucleotide variant Uncertain significance rs752463122 GRCh38 Chromosome X, 71128269: 71128269
17 MED12 NM_005120.2(MED12): c.6267+166G> A single nucleotide variant Uncertain significance GRCh37 Chromosome X, 70360873: 70360873
18 MED12 NM_005120.2(MED12): c.6267+166G> A single nucleotide variant Uncertain significance GRCh38 Chromosome X, 71141023: 71141023

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 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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