MCID: MNT239
MIFTS: 20

Mental Retardation, Autosomal Dominant 35

Categories: Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases, Cardiovascular diseases, Bone diseases, Eye diseases

Aliases & Classifications for Mental Retardation, Autosomal Dominant 35

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 35:

Name: Mental Retardation, Autosomal Dominant 35 54 71
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome 56
Mrd35 71

Characteristics:

Orphanet epidemiological data:

56
intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


Classifications:



Summaries for Mental Retardation, Autosomal Dominant 35

UniProtKB/Swiss-Prot : 71 Mental retardation, autosomal dominant 35: A 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.

MalaCards based summary : Mental Retardation, Autosomal Dominant 35, is also known as intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome, and has symptoms including strabismus, ventriculomegaly and myopia. An important gene associated with Mental Retardation, Autosomal Dominant 35 is PPP2R5D (Protein Phosphatase 2 Regulatory Subunit B'Delta). Affiliated tissues include eye.

Description from OMIM: 616355

Related Diseases for Mental Retardation, Autosomal Dominant 35

Diseases in the Mental Retardation, Autosomal Dominant 22 family:

Mental Retardation, Autosomal Dominant 42 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Recessive 47 Mental Retardation, Autosomal Dominant, 27
Mental Retardation, Autosomal Dominant 39 Mental Retardation, Autosomal Recessive, 52
Mental Retardation, Autosomal Recessive 51 Mental Retardation, Autosomal Recessive 42
Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 5 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 31
Mental Retardation, Autosomal Recessive 46 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Recessive 24 Mental Retardation, Autosomal Recessive 30
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Recessive 28 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 33 Mental Retardation, Autosomal Recessive 39
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 40 Mental Retardation, Autosomal Recessive 16
Mental Retardation, Autosomal Dominant 8 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive, 37
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Recessive 23
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 6
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 56
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Recessive 27
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 21
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 35 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 19 Mental Retardation, Autosomal Recessive 58
Mental Retardation, Autosomal Dominant 29 Mental Retardation, Autosomal Recessive 36
Mental Retardation, Autosomal Recessive 14 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Dominant 38 Mental Retardation, Autosomal Dominant 7
Mental Retardation, Autosomal Dominant 10 Mental Retardation 105

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 35

Symptoms via clinical synopsis from OMIM:

54

Neurologic- Central Nervous System:
seizures (in some patients)
poor or absent speech
hydrocephalus (in some patients)
delayed psychomotor development, moderate to severe

Head And Neck- Face:
hypotonic facies
broad, tall forehead

Growth- Height:
increased height (in some patients)

Head And Neck- Mouth:
open mouth
tented lip

Head And Neck- Head:
macrocephaly (in some patients)

Head And Neck- Eyes:
hypertelorism, mild


Clinical features from OMIM:

616355

Human phenotypes related to Mental Retardation, Autosomal Dominant 35:

32 (show all 19)
id Description HPO Frequency HPO Source Accession
1 strabismus 32 HP:0000486
2 ventriculomegaly 32 HP:0002119
3 myopia 32 HP:0000545
4 seizures 32 HP:0001250
5 hydrocephalus 32 HP:0000238
6 hypertelorism 32 HP:0000316
7 global developmental delay 32 HP:0001263
8 macrocephaly 32 HP:0000256
9 intellectual disability 32 HP:0001249
10 hypoglycemia 32 HP:0001943
11 open mouth 32 HP:0000194
12 downslanted palpebral fissures 32 HP:0000494
13 narrow forehead 32 HP:0000341
14 congenital hip dislocation 32 HP:0001374
15 generalized hypotonia 32 HP:0001290
16 chronic diarrhea 32 HP:0002028
17 pyloric stenosis 32 HP:0002021
18 deeply set eye 32 HP:0000490
19 congenital muscular torticollis 32 HP:0005988

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 35

Interventional clinical trials:


id Name Status NCT ID Phase Drugs
1 Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford Recruiting NCT01793168

Search NIH Clinical Center for Mental Retardation, Autosomal Dominant 35

Genetic Tests for Mental Retardation, Autosomal Dominant 35

Anatomical Context for Mental Retardation, Autosomal Dominant 35

MalaCards organs/tissues related to Mental Retardation, Autosomal Dominant 35:

39
Eye

Publications for Mental Retardation, Autosomal Dominant 35

Variations for Mental Retardation, Autosomal Dominant 35

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation, Autosomal Dominant 35:

71
id Symbol AA change Variation ID SNP ID
1 PPP2R5D p.Glu198Lys VAR_073708 rs863225082
2 PPP2R5D p.Pro201Arg VAR_073709 rs876657383
3 PPP2R5D p.Glu200Lys VAR_074491 rs863225079
4 PPP2R5D p.Trp207Arg VAR_074492 rs869320691

ClinVar genetic disease variations for Mental Retardation, Autosomal Dominant 35:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PPP2R5D NM_006245.3(PPP2R5D): c.592G> A (p.Glu198Lys) single nucleotide variant Pathogenic rs863225082 GRCh38 Chromosome 6, 43007265: 43007265
2 PPP2R5D NM_006245.3(PPP2R5D): c.602C> G (p.Pro201Arg) single nucleotide variant Pathogenic rs876657383 GRCh38 Chromosome 6, 43007275: 43007275
3 PPP2R5D NM_006245.3(PPP2R5D): c.157C> T (p.Pro53Ser) single nucleotide variant Pathogenic rs757369209 GRCh37 Chromosome 6, 42974252: 42974252
4 PPP2R5D NM_006245.3(PPP2R5D): c.598G> A (p.Glu200Lys) single nucleotide variant Pathogenic rs863225079 GRCh37 Chromosome 6, 42975009: 42975009
5 PPP2R5D NM_006245.3(PPP2R5D): c.619T> A (p.Trp207Arg) single nucleotide variant Pathogenic rs869320691 GRCh37 Chromosome 6, 42975030: 42975030

Expression for Mental Retardation, Autosomal Dominant 35

Search GEO for disease gene expression data for Mental Retardation, Autosomal Dominant 35.

Pathways for Mental Retardation, Autosomal Dominant 35

GO Terms for Mental Retardation, Autosomal Dominant 35

Sources for Mental Retardation, Autosomal Dominant 35

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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