MCID: PLY161
MIFTS: 34

Polymicrogyria, Bilateral Perisylvian, X-Linked

Categories: Rare diseases, Neuronal diseases, Fetal diseases

Aliases & Classifications for Polymicrogyria, Bilateral Perisylvian, X-Linked

MalaCards integrated aliases for Polymicrogyria, Bilateral Perisylvian, X-Linked:

Name: Polymicrogyria, Bilateral Perisylvian, X-Linked 57
Polymicrogyria, Bilateral Perisylvian 57 53 13
Perisylvian Syndrome, Congenital Bilateral 57 53
Congenital Bilateral Perisylvian Syndrome 53 29
Bilateral Perisylvian Polymicrogyria 53 59
Pmgx 57 53
Cbps 57 53
Perisylvian Syndrome, Congenital Bilateral; Cbps 57
Perisylvian Syndrome 53
Bppx 57
Bpp 57

Characteristics:

OMIM:

57
Inheritance:
x-linked dominant

Miscellaneous:
extremely variable phenotype


HPO:

32
polymicrogyria, bilateral perisylvian, x-linked:
Inheritance x-linked dominant inheritance


Classifications:



External Ids:

OMIM 57 300388
Orphanet 59 ORPHA98889
UMLS via Orphanet 74 C1845668
ICD10 via Orphanet 34 Q04.3
MedGen 42 C1845668

Summaries for Polymicrogyria, Bilateral Perisylvian, X-Linked

OMIM : 57 Polymicrogyria (PMG) is a malformation of cortical development in which the brain surface is irregular and the normal gyral pattern replaced by multiple small, partly fused gyri separated by shallow sulci. Microscopic examination shows a simplified 4-layered or unlayered cortex. Several patterns of PMG, including bilateral frontal, bilateral perisylvian, and bilateral mesial occipital PMG, have been described on the basis of their topographic distribution. All but the perisylvian form appear to be rare. Bilateral perisylvian PMG (BPP) often results in a typical clinical syndrome that is manifested by mild mental retardation, epilepsy, and pseudobulbar palsy, which causes difficulties with expressive speech and feeding (Kuzniecky et al., 1993). PMG may be a feature of other conditions as well (see, e.g., 300643). (300388)

MalaCards based summary : Polymicrogyria, Bilateral Perisylvian, X-Linked, also known as polymicrogyria, bilateral perisylvian, is related to polymicrogyria, bilateral perisylvian, autosomal recessive and colorblindness, partial, protan series. An important gene associated with Polymicrogyria, Bilateral Perisylvian, X-Linked is ADGRG1 (Adhesion G Protein-Coupled Receptor G1). Affiliated tissues include brain, cortex and tongue, and related phenotypes are delayed speech and language development and cognitive impairment

NIH Rare Diseases : 53 Bilateral perisylvian polymicrogyria (BPP) is a rare neurological disorder that affects the cerebral cortex (the outer surface of the brain). Signs and symptoms include partial paralysis of muscles on both sides of the face, tongue, jaws, and throat; difficulties in speaking, chewing, and swallowing; and/or seizures. In most cases, mild to severe intellectual disability is also present. While the exact cause of BPP is not fully understood, it is thought to be due to improper brain development during embryonic growth. Most cases of BPP occur sporadically in people with no family history of the disorder; however, more than one family member may rarely be affected by the condition. Treatment is based on the signs and symptoms present in each person.

Wikipedia : 76 Congenital bilateral perisylvian syndrome (CBPS) is a rare neurological disease characterized by... more...

Related Diseases for Polymicrogyria, Bilateral Perisylvian, X-Linked

Diseases related to Polymicrogyria, Bilateral Perisylvian, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 54)
# Related Disease Score Top Affiliating Genes
1 polymicrogyria, bilateral perisylvian, autosomal recessive 12.6
2 colorblindness, partial, protan series 11.1
3 megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 11.1
4 leukemia 10.3
5 chromosome 16p13.3 deletion syndrome, proximal 10.2
6 myeloid leukemia 10.2
7 leukemia, acute myeloid 10.2
8 intestinal atresia 10.0
9 pituitary hypoplasia 10.0
10 prostatitis 10.0
11 t-cell leukemia 10.0
12 prostate cancer 10.0
13 lung cancer 10.0
14 alzheimer disease 9.9
15 schizophrenia 9.9
16 polymicrogyria 9.9
17 adenocarcinoma 9.9
18 type i 9.9
19 suprabulbar paresis, congenital 9.9
20 schizencephaly 9.9
21 pulmonary hypertension 9.9
22 epilepsy 9.9
23 ovarian cancer 9.8
24 aging 9.8
25 myelodysplastic syndrome 9.8
26 hepatitis 9.8
27 sarcoma 9.8
28 esophagitis 9.8
29 breast cancer 9.7
30 retinoblastoma 9.7
31 small cell cancer of the lung 9.7
32 wilms tumor 5 9.7
33 human immunodeficiency virus type 1 9.7
34 lung cancer susceptibility 3 9.7
35 leukemia, acute lymphoblastic 9.7
36 wilms tumor 6 9.7
37 chronic myelomonocytic leukemia 9.7
38 hepatitis b 9.7
39 pulmonary fibrosis 9.7
40 silicosis 9.7
41 lymphoma 9.7
42 lymphoblastic leukemia 9.7
43 squamous cell carcinoma 9.7
44 colon adenocarcinoma 9.7
45 ischemia 9.7
46 laryngitis 9.7
47 pancreatitis 9.7
48 thyroiditis 9.7
49 neuronitis 9.7
50 herpes simplex 9.7

Graphical network of the top 20 diseases related to Polymicrogyria, Bilateral Perisylvian, X-Linked:



Diseases related to Polymicrogyria, Bilateral Perisylvian, X-Linked

Symptoms & Phenotypes for Polymicrogyria, Bilateral Perisylvian, X-Linked

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
pseudobulbar palsy
cognitive deficits
facial, pharyngeal, and masticatory muscle diplegia
dysarthria
speech and language disorders
more

Clinical features from OMIM:

300388

Human phenotypes related to Polymicrogyria, Bilateral Perisylvian, X-Linked:

32 (show all 7)
# Description HPO Frequency HPO Source Accession
1 delayed speech and language development 32 HP:0000750
2 cognitive impairment 32 HP:0100543
3 generalized tonic-clonic seizures 32 HP:0002069
4 dyslexia 32 HP:0010522
5 polymicrogyria 32 HP:0002126
6 atypical absence seizures 32 HP:0007270
7 pseudobulbar paralysis 32 HP:0007024

Drugs & Therapeutics for Polymicrogyria, Bilateral Perisylvian, X-Linked

Search Clinical Trials , NIH Clinical Center for Polymicrogyria, Bilateral Perisylvian, X-Linked

Genetic Tests for Polymicrogyria, Bilateral Perisylvian, X-Linked

Genetic tests related to Polymicrogyria, Bilateral Perisylvian, X-Linked:

# Genetic test Affiliating Genes
1 Congenital Bilateral Perisylvian Syndrome 29

Anatomical Context for Polymicrogyria, Bilateral Perisylvian, X-Linked

MalaCards organs/tissues related to Polymicrogyria, Bilateral Perisylvian, X-Linked:

41
Brain, Cortex, Tongue, Pituitary

Publications for Polymicrogyria, Bilateral Perisylvian, X-Linked

Articles related to Polymicrogyria, Bilateral Perisylvian, X-Linked:

(show all 11)
# Title Authors Year
1
Type IV intestinal atresia, congenital bilateral perisylvian syndrome, and chronic pulmonary hypertension secondary to multiple vascular disruption syndrome in a monochorionic twin. ( 23084212 )
2012
2
Multiple intestinal atresia and congenital bilateral perisylvian syndrome in a surviving monochorionic twin with intrauterine death of the co-twin. ( 20713201 )
2010
3
Congenital bilateral perisylvian syndrome: a case study. ( 18618376 )
2009
4
A case of congenital bilateral perisylvian syndrome due to bilateral schizencephaly. ( 17525033 )
2007
5
Congenital bilateral perisylvian syndrome: MR findings. ( 16607872 )
2006
6
Worster-Drought syndrome (congenital bilateral perisylvian syndrome) with posterior pituitary ectopia, pituitary hypoplasia, empty sella and panhypopituitarism: a patient report. ( 16759040 )
2006
7
Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis. ( 15168097 )
2004
8
Bilateral posterior parietal polymicrogyria: a mild form of congenital bilateral perisylvian syndrome? ( 11488882 )
2001
9
Electroclinical and magnetoencephalographic analysis of epilepsy in patients with congenital bilateral perisylvian syndrome. ( 11114217 )
2000
10
Congenital bilateral perisylvian syndrome (CBPS): do concomitant esophageal malformations indicate a poor prognosis? ( 11508551 )
2000
11
Congenital bilateral perisylvian syndrome: study of 31 patients. The CBPS Multicenter Collaborative Study. ( 8094839 )
1993

Variations for Polymicrogyria, Bilateral Perisylvian, X-Linked

Expression for Polymicrogyria, Bilateral Perisylvian, X-Linked

Search GEO for disease gene expression data for Polymicrogyria, Bilateral Perisylvian, X-Linked.

Pathways for Polymicrogyria, Bilateral Perisylvian, X-Linked

GO Terms for Polymicrogyria, Bilateral Perisylvian, X-Linked

Biological processes related to Polymicrogyria, Bilateral Perisylvian, X-Linked according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell adhesion GO:0007155 8.96 ADGRG1 SRPX2
2 angiogenesis GO:0001525 8.62 ADGRG1 SRPX2

Sources for Polymicrogyria, Bilateral Perisylvian, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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