MRD61
MCID: INT385
MIFTS: 23

Intellectual Developmental Disorder, Autosomal Dominant 61 (MRD61)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, Autosomal Dominant 61

MalaCards integrated aliases for Intellectual Developmental Disorder, Autosomal Dominant 61:

Name: Intellectual Developmental Disorder, Autosomal Dominant 61 57
Intellectual Developmental Disorder 61 57 73 29 6
Mental Retardation, Autosomal Dominant 61 57 73
Mrd61 57 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutation (in most patients)
variable phenotype and severity


HPO:

31
intellectual developmental disorder, autosomal dominant 61:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder, Autosomal Dominant 61

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder 61: An autosomal dominant form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD61 is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder. Additional features are highly variable and may include non-specific dysmorphic features, obstipation, ocular anomalies, and poor overall growth.

MalaCards based summary : Intellectual Developmental Disorder, Autosomal Dominant 61, is also known as intellectual developmental disorder 61. An important gene associated with Intellectual Developmental Disorder, Autosomal Dominant 61 is MED13 (Mediator Complex Subunit 13). Related phenotypes are global developmental delay and delayed speech and language development

OMIM® : 57 Autosomal dominant intellectual developmental disorder-61 (MRD61) is characterized by global developmental delay apparent in infancy with mildly impaired intellectual development, expressive speech delay, and behavioral abnormalities, including autism spectrum disorder and attention deficit-hyperactivity disorder (ADHD). Most affected individuals learn to walk on time or with some mild delay. Additional features are highly variable and may include nonspecific dysmorphic features, obstipation, ocular anomalies, and poor overall growth (Snijders Blok et al., 2018). (618009) (Updated 05-Mar-2021)

Symptoms & Phenotypes for Intellectual Developmental Disorder, Autosomal Dominant 61

Human phenotypes related to Intellectual Developmental Disorder, Autosomal Dominant 61:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 delayed speech and language development 31 very rare (1%) HP:0000750
3 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
4 delayed gross motor development 31 very rare (1%) HP:0002194
5 autistic behavior 31 very rare (1%) HP:0000729
6 speech apraxia 31 very rare (1%) HP:0011098
7 duane anomaly 31 very rare (1%) HP:0009921
8 chronic constipation 31 very rare (1%) HP:0012450
9 hypotonia 31 very rare (1%) HP:0001252
10 generalized myoclonic-atonic seizure 31 very rare (1%) HP:0011170
11 hypertelorism 31 HP:0000316
12 wide nasal bridge 31 HP:0000431
13 smooth philtrum 31 HP:0000319
14 wide mouth 31 HP:0000154
15 thin upper lip vermilion 31 HP:0000219
16 prominent nasal bridge 31 HP:0000426
17 synophrys 31 HP:0000664
18 narrow palpebral fissure 31 HP:0045025
19 periorbital fullness 31 HP:0000629

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Skeletal Spine:
scoliosis
kyphosis

Neurologic Central Nervous System:
global developmental delay
speech apraxia
expressive language delay
articulation difficulties
delayed walking, mild (in some patients)
more
Skeletal Feet:
pes cavus
laterally deviated halluces

Head And Neck Nose:
broad nasal bridge
high nasal bridge
full nasal tip

Head And Neck Face:
flat philtrum
dysmorphic facial features, nonspecific

Head And Neck Ears:
hearing loss, conductive (rare)

Head And Neck Eyes:
nystagmus
strabismus
synophrys
astigmatism
periorbital fullness
more
Head And Neck Mouth:
wide mouth
thin upper lip

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
autism spectrum disorder
attention deficit-hyperactivity disorder

Growth Other:
poor overall growth

Cardiovascular Vascular:
aortic defects (in some patients)

Clinical features from OMIM®:

618009 (Updated 05-Mar-2021)

MGI Mouse Phenotypes related to Intellectual Developmental Disorder, Autosomal Dominant 61:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 adipose tissue MP:0005375 8.62 MED13 WDR1

Drugs & Therapeutics for Intellectual Developmental Disorder, Autosomal Dominant 61

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, Autosomal Dominant 61

Genetic Tests for Intellectual Developmental Disorder, Autosomal Dominant 61

Genetic tests related to Intellectual Developmental Disorder, Autosomal Dominant 61:

# Genetic test Affiliating Genes
1 Intellectual Developmental Disorder 61 29 MED13

Anatomical Context for Intellectual Developmental Disorder, Autosomal Dominant 61

Publications for Intellectual Developmental Disorder, Autosomal Dominant 61

Articles related to Intellectual Developmental Disorder, Autosomal Dominant 61:

# Title Authors PMID Year
1
De novo mutations in MED13, a component of the Mediator complex, are associated with a novel neurodevelopmental disorder. 6 57
29740699 2018

Variations for Intellectual Developmental Disorder, Autosomal Dominant 61

ClinVar genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 61:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 WDR1 NM_017491.5(WDR1):c.392T>G (p.Phe131Cys) SNV Pathogenic 810680 4:10099501-10099501 4:10097877-10097877
2 MED13 NM_005121.3(MED13):c.977C>T (p.Thr326Ile) SNV Pathogenic 810681 rs1603405457 17:60108837-60108837 17:62031476-62031476
3 MED13 NM_005121.3(MED13):c.1745T>A (p.Leu582Ter) SNV Pathogenic 620176 rs780070113 17:60088133-60088133 17:62010772-62010772
4 MED13 NM_005121.3(MED13):c.4487del (p.Thr1496fs) Deletion Pathogenic 810684 17:60042724-60042724 17:61965363-61965363
5 MED13 NM_005121.3(MED13):c.1968-1G>A SNV Likely pathogenic 975435 17:60072727-60072727 17:61995366-61995366
6 MED13 NM_005121.3(MED13):c.5245A>G (p.Arg1749Gly) SNV Uncertain significance 995857 rs1440544611 17:60038960-60038960 17:61961599-61961599
7 MED13 NM_005121.3(MED13):c.1825G>T (p.Asp609Tyr) SNV Uncertain significance 931325 17:60088053-60088053 17:62010692-62010692

UniProtKB/Swiss-Prot genetic disease variations for Intellectual Developmental Disorder, Autosomal Dominant 61:

73
# Symbol AA change Variation ID SNP ID
1 MED13 p.Thr326Ile VAR_083557
2 MED13 p.Pro327Gln VAR_083559
3 MED13 p.Pro327Ser VAR_083560

Expression for Intellectual Developmental Disorder, Autosomal Dominant 61

Search GEO for disease gene expression data for Intellectual Developmental Disorder, Autosomal Dominant 61.

Pathways for Intellectual Developmental Disorder, Autosomal Dominant 61

GO Terms for Intellectual Developmental Disorder, Autosomal Dominant 61

Sources for Intellectual Developmental Disorder, Autosomal Dominant 61

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-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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