MCID: MGL029
MIFTS: 18

Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3

Categories: Genetic 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 54 24 71 29 69
Mpph3 24 71

Characteristics:

OMIM:

54
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth
most mutations occur de novo


HPO:

32
megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


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 ventriculomegaly, hydrocephalus and prominent forehead. An important gene associated with Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 is CCND2 (Cyclin D2).

OMIM : 54
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:

54

Neurologic- Central Nervous System:
ventriculomegaly
hydrocephalus
poor or absent speech
polymicrogyria
delayed development, severe
more
Head And Neck- Head:
macrocephaly
enlarged head circumference (up to 7.5+)

Skeletal- Hands:
polydactyly, postaxial

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:

32 (show all 8)
id Description HPO Frequency HPO Source Accession
1 ventriculomegaly 32 HP:0002119
2 hydrocephalus 32 HP:0000238
3 prominent forehead 32 HP:0011220
4 polymicrogyria 32 HP:0002126
5 global developmental delay 32 HP:0001263
6 macrocephaly 32 HP:0000256
7 megalencephaly 32 HP:0001355
8 postaxial hand polydactyly 32 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:

id Genetic test Affiliating Genes
1 Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3 29 24 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
id 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

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

6
id 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
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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42 MeSH
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59 PubMed
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65 SNOMED-CT via HPO
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67 TGDB
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70 UMLS via Orphanet
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