MCID: MNT239
MIFTS: 20

Mental Retardation, Autosomal Dominant 35

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

Aliases & Classifications for Mental Retardation, Autosomal Dominant 35

MalaCards integrated aliases for Mental Retardation, Autosomal Dominant 35:

Name: Mental Retardation, Autosomal Dominant 35 53 71
Mrd35 53 71
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

31
mental retardation, autosomal dominant 35:
Inheritance autosomal dominant inheritance


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 mrd35, and has symptoms including seizures, macrocephaly and hypertelorism. 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 20 family:

Mental Retardation, Autosomal Recessive 2 Mental Retardation, Autosomal Recessive 5
Mental Retardation, Autosomal Dominant 22 Mental Retardation, Autosomal Recessive 14
Mental Retardation, Autosomal Dominant 7 Mental Retardation, Autosomal Recessive 15
Mental Retardation, Autosomal Recessive 16 Mental Retardation, Autosomal Recessive 18
Mental Retardation, Autosomal Dominant 10 Mental Retardation, Autosomal Dominant 11
Mental Retardation, Autosomal Recessive 31 Mental Retardation, Autosomal Recessive 29
Mental Retardation, Autosomal Recessive 27 Mental Retardation, Autosomal Recessive 33
Mental Retardation, Autosomal Recessive 30 Mental Retardation, Autosomal Recessive 19
Mental Retardation, Autosomal Recessive 23 Mental Retardation, Autosomal Recessive 24
Mental Retardation, Autosomal Recessive 25 Mental Retardation, Autosomal Recessive 28
Mental Retardation, Autosomal Dominant 13 Mental Retardation, Autosomal Dominant 18
Mental Retardation, Autosomal Dominant 19 Mental Retardation, Autosomal Recessive 35
Mental Retardation, Autosomal Recessive 36 Mental Retardation, Autosomal Recessive 37
Mental Retardation, Autosomal Dominant 21 Mental Retardation, Autosomal Recessive 38
Mental Retardation, Autosomal Recessive 39 Mental Retardation, Autosomal Recessive 40
Mental Retardation, Autosomal Recessive 41 Mental Retardation, Autosomal Dominant 23
Mental Retardation, Autosomal Recessive 42 Mental Retardation, Autosomal Recessive 43
Mental Retardation, Autosomal Dominant 24 Mental Retardation, Autosomal Dominant 26
Mental Retardation, Autosomal Dominant 27 Mental Retardation, Autosomal Recessive 44
Mental Retardation, Autosomal Recessive 45 Mental Retardation, Autosomal Dominant 29
Mental Retardation, Autosomal Dominant 30 Mental Retardation, Autosomal Recessive 46
Mental Retardation, Autosomal Dominant 31 Mental Retardation, Autosomal Recessive 47
Mental Retardation, Autosomal Dominant 32 Mental Retardation, Autosomal Recessive 48
Mental Retardation, Autosomal Recessive 49 Mental Retardation, Autosomal Dominant 33
Mental Retardation, Autosomal Dominant 34 Mental Retardation, Autosomal Dominant 35
Mental Retardation, Autosomal Dominant 36 Mental Retardation, Autosomal Dominant 38
Mental Retardation, Autosomal Recessive 50 Mental Retardation, Autosomal Dominant 39
Mental Retardation, Autosomal Dominant 40 Mental Retardation, Autosomal Recessive 51
Mental Retardation, Autosomal Recessive 52 Mental Retardation, Autosomal Recessive 53
Mental Retardation, Autosomal Dominant 41 Mental Retardation, Autosomal Dominant 42
Mental Retardation, Autosomal Dominant 43 Mental Retardation, Autosomal Recessive 54
Mental Retardation, Autosomal Recessive 55 Mental Retardation, Autosomal Dominant 44
Mental Retardation, Autosomal Recessive 56 Mental Retardation, Autosomal Recessive 57
Mental Retardation, Autosomal Recessive 58 Mental Retardation, Autosomal Recessive 59
Mental Retardation, Autosomal Recessive 60 Mental Retardation, Autosomal Dominant 45
Mental Retardation, Autosomal Dominant 46 Mental Retardation, Autosomal Dominant 47
Mental Retardation, Autosomal Dominant 48 Mental Retardation, Autosomal Dominant 49
Mental Retardation, Autosomal Recessive 61 Mental Retardation, Autosomal Dominant 50
Mental Retardation, Autosomal Dominant 51 Mental Retardation, Autosomal Dominant 52
Mental Retardation, Autosomal Dominant 53 Mental Retardation, Autosomal Dominant 54
Mental Retardation, Autosomal Dominant 56

Symptoms & Phenotypes for Mental Retardation, Autosomal Dominant 35

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Mouth:
open mouth
tented lip

Head And Neck Head:
macrocephaly (in some patients)

Head And Neck Face:
hypotonic facies
broad, tall forehead

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

Head And Neck Eyes:
hypertelorism, mild

Growth Height:
increased height (in some patients)


Clinical features from OMIM:

616355

Human phenotypes related to Mental Retardation, Autosomal Dominant 35:

31 (show all 20)
# Description HPO Frequency HPO Source Accession
1 seizures 31 HP:0001250
2 macrocephaly 31 HP:0000256
3 hypertelorism 31 HP:0000316
4 hydrocephalus 31 HP:0000238
5 intellectual disability 31 HP:0001249
6 global developmental delay 31 HP:0001263
7 hypoglycemia 31 HP:0001943
8 strabismus 31 HP:0000486
9 myopia 31 HP:0000545
10 ventriculomegaly 31 HP:0002119
11 deeply set eye 31 HP:0000490
12 downslanted palpebral fissures 31 HP:0000494
13 open mouth 31 HP:0000194
14 chronic diarrhea 31 HP:0002028
15 pyloric stenosis 31 HP:0002021
16 congenital muscular torticollis 31 HP:0005988
17 congenital hip dislocation 31 HP:0001374
18 generalized hypotonia 31 HP:0001290
19 narrow forehead 31 HP:0000341
20 facial hypotonia 31 HP:0000297

Drugs & Therapeutics for Mental Retardation, Autosomal Dominant 35

Search Clinical Trials , 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:

38
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
# 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
# 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
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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