PMGYCHA
MCID: PLY126
MIFTS: 20

Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis (PMGYCHA)

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 72 29 6 39
Pmgycha 57 72

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

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


HPO:

31
polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:



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

UniProtKB/Swiss-Prot : 72 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 cortex and pons, and related phenotypes are micrognathia and talipes equinovarus

More information from OMIM: 616531

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

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

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

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 micrognathia 31 HP:0000347
2 talipes equinovarus 31 HP:0001762
3 dolichocephaly 31 HP:0000268
4 arthrogryposis multiplex congenita 31 HP:0002804
5 polymicrogyria 31 HP:0002126
6 cerebellar hypoplasia 31 HP:0001321
7 overlapping fingers 31 HP:0010557
8 externally rotated hips 31 HP:0008796
9 cerebellar dysplasia 31 HP:0007033

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Head And Neck Face:
micrognathia

Head And Neck Head:
dolichocephaly

Skeletal Hands:
overlapping fingers

Skeletal:
arthrogryposis

Skeletal Feet:
talipes equinovarus

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

Skeletal Pelvis:
externally rotated hips

Skeletal Limbs:
flexed posture

Clinical features from OMIM®:

616531 (Updated 05-Apr-2021)

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:

40
Cortex, Pons

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

Articles related to Polymicrogyria, Perisylvian, with Cerebellar Hypoplasia and Arthrogryposis:

# Title Authors PMID Year
1
Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis. 6 57
25855803 2015

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

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

6 (show all 15)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PI4KA NM_058004.4(PI4KA):c.2575-1G>A SNV Pathogenic 997601 GRCh37: 22:21119239-21119239
GRCh38: 22:20764951-20764951
2 PI4KA NM_058004.4(PI4KA):c.2277+1G>A SNV Pathogenic 997634 GRCh37: 22:21150433-21150433
GRCh38: 22:20796145-20796145
3 PI4KA NM_058004.4(PI4KA):c.5560G>A (p.Asp1854Asn) SNV Pathogenic 208451 rs747119727 GRCh37: 22:21067580-21067580
GRCh38: 22:20713292-20713292
4 PI4KA NM_058004.4(PI4KA):c.2386C>T (p.Arg796Ter) SNV Pathogenic 208450 rs777006911 GRCh37: 22:21119924-21119924
GRCh38: 22:20765636-20765636
5 PI4KA NM_058004.4(PI4KA):c.5821C>T (p.Arg1941Ter) SNV Pathogenic 1030112 GRCh37: 22:21065731-21065731
GRCh38: 22:20711443-20711443
6 PI4KA NM_058004.4(PI4KA):c.6016_6017dup (p.Lys2007fs) Duplication Pathogenic 1030113 GRCh37: 22:21065052-21065053
GRCh38: 22:20710764-20710765
7 PI4KA NM_058004.4(PI4KA):c.3275C>A (p.Ser1092Ter) SNV Pathogenic 1034208 GRCh37: 22:21101959-21101959
GRCh38: 22:20747671-20747671
8 PI4KA NM_058004.4(PI4KA):c.2386del (p.Arg796fs) Deletion Likely pathogenic 870385 GRCh37: 22:21119924-21119924
GRCh38: 22:20765636-20765636
9 PI4KA NM_058004.4(PI4KA):c.4368C>T (p.Tyr1456=) SNV Uncertain significance 733937 rs113584704 GRCh37: 22:21084220-21084220
GRCh38: 22:20729932-20729932
10 PI4KA NM_058004.4(PI4KA):c.4672C>T (p.Leu1558=) SNV Uncertain significance 733936 rs113882528 GRCh37: 22:21083611-21083611
GRCh38: 22:20729323-20729323
11 PI4KA NM_058004.4(PI4KA):c.2684C>T (p.Ser895Phe) SNV Uncertain significance 1033028 GRCh37: 22:21119129-21119129
GRCh38: 22:20764841-20764841
12 PI4KA NM_058004.4(PI4KA):c.5512G>A (p.Asp1838Asn) SNV Uncertain significance 816781 GRCh37: 22:21067628-21067628
GRCh38: 22:20713340-20713340
13 PI4KA NM_058004.4(PI4KA):c.5645T>C (p.Phe1882Ser) SNV Uncertain significance 816782 GRCh37: 22:21067012-21067012
GRCh38: 22:20712724-20712724
14 PI4KA NM_058004.4(PI4KA):c.1076A>G (p.Asn359Ser) SNV Uncertain significance 1030110 GRCh37: 22:21161742-21161742
GRCh38: 22:20807454-20807454
15 PI4KA NM_058004.4(PI4KA):c.501G>T (p.Met167Ile) SNV Uncertain significance 1030111 GRCh37: 22:21174855-21174855
GRCh38: 22:20820567-20820567

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

72
# Symbol AA change Variation ID SNP ID
1 PI4KA p.Asp1854Asn VAR_074640 rs747119727

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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71 UMLS via Orphanet
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