MCID: PLY126
MIFTS: 17

Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis

Categories: Genetic diseases

Aliases & Classifications for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

MalaCards integrated aliases for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis:

Name: Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis 57 75 29 6 40
Pmgycha 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
onset in utero
three fetuses from 1 family have been reported (last curated august 2015)


HPO:

32
polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis:
Onset and clinical course congenital onset
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

UniProtKB/Swiss-Prot : 75 Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis: A form of polymicrogyria, a malformation of the cortex in which the brain surface is irregular and characterized by an excessive number of small gyri with abnormal lamination. Polymicrogyria is a heterogeneous disorder, considered to be the result of postmigratory abnormal cortical organization. PMGYCHA patients manifest perisylvian polymicrogyria, cerebellar hypoplasia or dysplasia, and variable contractures of the limbs or fingers.

MalaCards based summary : Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis, is also known as pmgycha. An important gene associated with Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis is PI4KA (Phosphatidylinositol 4-Kinase Alpha). Affiliated tissues include brain, cortex and pons, and related phenotypes are micrognathia and dolichocephaly

Description from OMIM: 616531

Related Diseases for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

Symptoms & Phenotypes for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Face:
micrognathia

Neurologic Central Nervous System:
cerebellar hypoplasia
cerebellar dysplasia
polymicrogyria, perisylvian
small pons (1 patient)

Skeletal Hands:
overlapping fingers

Skeletal:
arthrogryposis

Head And Neck Head:
dolichocephaly

Skeletal Feet:
talipes equinovarus

Skeletal Pelvis:
externally rotated hips

Skeletal Limbs:
flexed posture


Clinical features from OMIM:

616531

Human phenotypes related to Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis:

32 (show all 8)
# Description HPO Frequency HPO Source Accession
1 micrognathia 32 HP:0000347
2 dolichocephaly 32 HP:0000268
3 arthrogryposis multiplex congenita 32 HP:0002804
4 cerebellar hypoplasia 32 HP:0001321
5 talipes equinovarus 32 HP:0001762
6 cerebellar dysplasia 32 HP:0007033
7 overlapping fingers 32 HP:0010557
8 externally rotated hips 32 HP:0008796

Drugs & Therapeutics for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

Search Clinical Trials , NIH Clinical Center for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis

Genetic Tests for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

Genetic tests related to Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis:

# Genetic test Affiliating Genes
1 Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis 29 PI4KA

Anatomical Context for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

MalaCards organs/tissues related to Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis:

41
Brain, Cortex, Pons

Publications for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

Variations for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

UniProtKB/Swiss-Prot genetic disease variations for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis:

75
# Symbol AA change Variation ID SNP ID
1 PI4KA p.Asp1854Asn VAR_074640 rs747119727

ClinVar genetic disease variations for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PI4KA NM_058004.3(PI4KA): c.2386C> T (p.Arg796Ter) single nucleotide variant Pathogenic rs777006911 GRCh38 Chromosome 22, 20765636: 20765636
2 PI4KA NM_058004.3(PI4KA): c.2386C> T (p.Arg796Ter) single nucleotide variant Pathogenic rs777006911 GRCh37 Chromosome 22, 21119924: 21119924
3 PI4KA NM_058004.3(PI4KA): c.5560G> A (p.Asp1854Asn) single nucleotide variant Pathogenic rs747119727 GRCh37 Chromosome 22, 21067580: 21067580
4 PI4KA NM_058004.3(PI4KA): c.5560G> A (p.Asp1854Asn) single nucleotide variant Pathogenic rs747119727 GRCh38 Chromosome 22, 20713292: 20713292

Expression for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

Search GEO for disease gene expression data for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis.

Pathways for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

GO Terms for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

Sources for Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and...

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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