MRD61
MCID: INT367
MIFTS: 20

Intellectual Developmental Disorder 61 (MRD61)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder 61

MalaCards integrated aliases for Intellectual Developmental Disorder 61:

Name: Intellectual Developmental Disorder 61 56 73 6
Mental Retardation, Autosomal Dominant 61 56 73
Mrd61 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

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


HPO:

31
intellectual developmental disorder 61:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Intellectual Developmental Disorder 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 61, is also known as mental retardation, autosomal dominant 61. An important gene associated with Intellectual Developmental Disorder 61 is MED13 (Mediator Complex Subunit 13). Affiliated tissues include eye, and related phenotypes are global developmental delay and muscular hypotonia

OMIM : 56 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)

Related Diseases for Intellectual Developmental Disorder 61

Symptoms & Phenotypes for Intellectual Developmental Disorder 61

Human phenotypes related to Intellectual Developmental Disorder 61:

31 (show all 19)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 muscular hypotonia 31 very rare (1%) HP:0001252
3 delayed speech and language development 31 very rare (1%) HP:0000750
4 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
5 speech apraxia 31 very rare (1%) HP:0011098
6 delayed gross motor development 31 very rare (1%) HP:0002194
7 autistic behavior 31 very rare (1%) HP:0000729
8 duane anomaly 31 very rare (1%) HP:0009921
9 chronic constipation 31 very rare (1%) HP:0012450
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:

56
Neurologic Central Nervous System:
global developmental delay
speech apraxia
expressive language delay
articulation difficulties
delayed walking, mild (in some patients)
more
Head And Neck Eyes:
nystagmus
strabismus
synophrys
astigmatism
periorbital fullness
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

Growth Other:
poor overall growth

Skeletal Spine:
scoliosis
kyphosis

Head And Neck Mouth:
wide mouth
thin upper lip

Muscle Soft Tissue:
hypotonia

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

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

Cardiovascular Vascular:
aortic defects (in some patients)

Clinical features from OMIM:

618009

Drugs & Therapeutics for Intellectual Developmental Disorder 61

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

Genetic Tests for Intellectual Developmental Disorder 61

Anatomical Context for Intellectual Developmental Disorder 61

MalaCards organs/tissues related to Intellectual Developmental Disorder 61:

40
Eye

Publications for Intellectual Developmental Disorder 61

Articles related to Intellectual Developmental Disorder 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 56
29740699 2018

Variations for Intellectual Developmental Disorder 61

ClinVar genetic disease variations for Intellectual Developmental Disorder 61:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MED13 NM_005112.2:c.392T>GSNV Pathogenic 810680
2 MED13 NM_005121.3(MED13):c.977C>T (p.Thr326Ile)SNV Pathogenic 810681 17:60108837-60108837 17:62031476-62031476
3 MED13 NM_005121.3:c.1745T>ASNV Pathogenic 810682
4 NM_005112.2:c.4198C>TSNV Pathogenic 810683 4:10074197-10074197 4:10072573-10072573
5 MED13 NM_005112.2:c.4487delCdeletion Pathogenic 810684

Expression for Intellectual Developmental Disorder 61

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

Pathways for Intellectual Developmental Disorder 61

GO Terms for Intellectual Developmental Disorder 61

Sources for Intellectual Developmental Disorder 61

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....