MCID: MGL029
MIFTS: 17

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

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

Aliases & Classifications for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

MalaCards integrated aliases for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

Name: Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 53 71 28 69
Mpph3 53 71

Characteristics:

OMIM:

53
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
most mutations occur de novo


HPO:

31
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3:
Inheritance autosomal dominant inheritance
Onset and clinical course congenital onset


Classifications:



Summaries for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

UniProtKB/Swiss-Prot : 71 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3: A syndrome characterized by megalencephaly, ventriculomegaly that may lead to hydrocephalus, and polymicrogyria; polydactyly may also be seen. There is considerable phenotypic similarity between this disorder and the megalencephaly-capillary malformation syndrome.

MalaCards based summary : Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3, is also known as mpph3, and has symptoms including macrocephaly, hydrocephalus and megalencephaly. An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 is CCND2 (Cyclin D2).

OMIM : 53 This disorder comprises macrocephaly, megalencephaly, ventriculomegaly, polymicrogyria, and polydactyly. Most affected individuals have severely delayed psychomotor development (summary by Mirzaa et al., 2014). For a discussion of genetic heterogeneity of MPPH, see MPPH1 (603387). (615938)

Related Diseases for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Diseases in the Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 family:

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

Symptoms & Phenotypes for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Head:
enlarged head circumference (up to 7.5+)
macrocephaly

Skeletal Hands:
polydactyly, postaxial

Neurologic Central Nervous System:
delayed development, severe
poor or absent speech
megalencephaly
ventriculomegaly
hydrocephalus
more
Head And Neck Face:
prominent forehead

Skeletal Feet:
polydactyly, postaxial


Clinical features from OMIM:

615938

Human phenotypes related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

31 (show all 8)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 hydrocephalus 31 HP:0000238
3 megalencephaly 31 HP:0001355
4 global developmental delay 31 HP:0001263
5 prominent forehead 31 HP:0011220
6 ventriculomegaly 31 HP:0002119
7 polymicrogyria 31 HP:0002126
8 postaxial hand polydactyly 31 HP:0001162

Drugs & Therapeutics for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Search Clinical Trials , NIH Clinical Center for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

Genetic Tests for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Genetic tests related to Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

# Genetic test Affiliating Genes
1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 28 CCND2

Anatomical Context for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Publications for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

UniProtKB/Swiss-Prot genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

71
# Symbol AA change Variation ID SNP ID
1 CCND2 p.Thr280Ala VAR_072370 rs587777618
2 CCND2 p.Thr280Asn VAR_072371 rs587777620
3 CCND2 p.Pro281Leu VAR_072372 rs587777622
4 CCND2 p.Pro281Arg VAR_072373 rs587777622
5 CCND2 p.Val284Gly VAR_072374 rs777786993

ClinVar genetic disease variations for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCND2 NM_001759.3(CCND2): c.838A> G (p.Thr280Ala) single nucleotide variant Pathogenic rs587777618 GRCh37 Chromosome 12, 4409143: 4409143
2 CCND2 NM_001759.3(CCND2): c.808A> T (p.Lys270Ter) single nucleotide variant Pathogenic rs587777619 GRCh37 Chromosome 12, 4409113: 4409113
3 CCND2 NM_001759.3(CCND2): c.839C> A (p.Thr280Asn) single nucleotide variant Pathogenic rs587777620 GRCh37 Chromosome 12, 4409144: 4409144
4 CCND2 NM_001759.3(CCND2): c.841C> T (p.Pro281Ser) single nucleotide variant Pathogenic rs587777621 GRCh37 Chromosome 12, 4409146: 4409146
5 CCND2 NM_001759.3(CCND2): c.842C> G (p.Pro281Arg) single nucleotide variant Pathogenic rs587777622 GRCh37 Chromosome 12, 4409147: 4409147
6 CCND2 NM_001759.3(CCND2): c.842C> T (p.Pro281Leu) single nucleotide variant Pathogenic rs587777622 GRCh37 Chromosome 12, 4409147: 4409147
7 CCND2 NM_001759.3(CCND2): c.851T> G (p.Val284Gly) single nucleotide variant Pathogenic rs777786993 GRCh37 Chromosome 12, 4409156: 4409156

Expression for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Search GEO for disease gene expression data for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3.

Pathways for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

GO Terms for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

Sources for Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome...

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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