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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Hearing Loss Disease Portal

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Hydrocephalus (D006849)
Parent Node: Malformations of Cortical Development (D054220)
Parent Node: Polydactyly (D017689)
..Starting node ..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
Child Nodes:
Sister Nodes:
..Absence of tibia with polydactyly (C535564)
..Biemond Syndrome II (C565902)
..Biemond syndrome type 2 (C535439)
..Brachyphalangy, polydactyly, and tibial aplasia/hypoplasia (C537100)
..Cortical Blindness, Retardation, and Postaxial Polydactyly (C565674)
..Crossed Polydactyly, Type I (C566783)
..Dandy Walker malformation postaxial polydactyly (C535771)
..Desbuquois syndrome (C535943)
..Ectodermal dysplasia alopecia preaxial polydactyly (C538016)
..Ectodermal Dysplasia Syndrome with Distinctive Facial Appearance and Preaxial Polydactyly of Feet (C565067)
..Garret Tripp syndrome (C535646)
..Hirschsprung disease polydactyly heart disease (C538120)
..Hirschsprung Disease with Heart Defects, Laryngeal Anomalies, and Preaxial Polydactyly (C565817)
..Hirschsprung Disease with Polydactyly, Renal Agenesis, and Deafness (C565518)
..Hirschsprung Disease with Ulnar Polydactyly, Polysyndactyly of Big Toes, and Ventricular Septal Defect (C565517)
..Holoprosencephaly 9 (C563659)
..Hydrolethalus Syndrome 1 (C565504)
..Kozlowski-Krajewska syndrome (C537615)
..Laurence Prosser Rocker syndrome (C537882)
..Liver Fibrocystic Disease and Polydactyly (C565272)
..Maroteaux Fonfria syndrome (C536023)
..McKusick Kaufman syndrome (C538159)
..Meckel Syndrome, Type 4 (C567003)
..Meckel-Like Cerebrorenodigital Syndrome (C567004)
..Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome (C566381)
..Mexican Cardiomelic Dysplasia (C563087)
..Oliver Syndrome (C564931)
..Pallister-Hall Syndrome (D054975)
..Pfeiffer Mayer syndrome (C537888)
..Polydactyly myopia syndrome (C536331)
..Polydactyly preaxial type 1 (C536332)
..Polydactyly, Postaxial (C562429)
..Polydactyly, Postaxial, Type A2 (C566585)
..Polydactyly, Postaxial, Type A3 (C564590)
..Polydactyly, Postaxial, Type A4 (C563909)
..Polydactyly, Postaxial, with Dental and Vertebral Anomalies (C564880)
..Polydactyly, preaxial 4 (C536333)
..POLYDACTYLY, PREAXIAL II (OMIM:174500)
..Polydactyly, Preaxial III (C566784)
..Polysyndactyly, Crossed (C566773)
..Preaxial deficiency, postaxial polydactyly and hypospadias (C538278)
..Preaxial Hallucal Polydactyly (C566632)
..Pseudotrisomy 13 syndrome (C535829)
..Santos Mateus Leal syndrome (C537235)
..Santos Syndrome (C567819)
..Scalp defects postaxial polydactyly (C536622)
..Short Rib-Polydactyly Syndrome (D012779) 3
..SHORT-RIB THORACIC DYSPLASIA 3 WITH OR WITHOUT POLYDACTYLY (OMIM:613091)
..Syndactyly, Type IV (C566092)
..Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
..Synpolydactyly 2 (C564278)
..Synpolydactyly 3 (C565216)
..Synpolydactyly With Foot Anomalies (C566095)
..Thai Symphalangism Syndrome (C564303)
..Tibia absent polydactyly arachnoid cyst (C536918)
..Tibia, Absence or Hypoplasia of, with Polydactyly, Retrocerebellar Arachnoid Cyst, and Other Anomalies (C563403)
..Tibia, Hypoplasia of, with Polydactyly (C566046)
..Ulnar Ray Dysgenesis with Postaxial Polydactyly and Renal Cystic Dysplasia (C565783)
..Urioste Martinez-Frias syndrome (C536478)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6891

Name:

Megalanecephaly Polymicrogyria-Polydactyly Hydrocephalus Syndrome

Definition:

Alternative IDs:

OMIM:603387

ParentIDs:

MESH:D006849|MESH:D017689|MESH:D054220

TreeNumbers:

C05.660.585.600/C566381 |C10.228.140.602/C566381 |C10.228.140.631.450/C566381 |C10.500.507/C566381 |C16.131.621.585.600/C566381 |C16.131.666.507/C566381

Synonyms:

Slim Mappings:

Congenital abnormality|Musculoskeletal disease|Nervous system disease

Reference:

MedGen: C566381
MeSH: C566381
OMIM: 603387;

Genes: PIK3R2;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0001090	Abnormally large globe
3	HP:0001631	Atrial septal defect
4	HP:0000618	Blindness
5	HP:0002007	Frontal bossing
6	HP:0001263	Global developmental delay
7	HP:0000238	Hydrocephalus
8	HP:0002079	Hypoplasia of the corpus callosum
9	HP:0002187	Intellectual disability, profound
10	HP:0006380	Knee flexion contracture
11	HP:0002808	Kyphosis
12	HP:0000637	Long palpebral fissure
13	HP:0000256	Macrocephaly
14	HP:0001355	Megalencephaly
15	HP:0001653	Mitral regurgitation
16	HP:0008936	Muscular hypotonia of the trunk
17	HP:0001302	Pachygyria
18	HP:0002126	Polymicrogyria
19	HP:0100259	Postaxial polydactyly
20	HP:0000508	Ptosis
21	HP:0001250	Seizure
22	HP:0003202	Skeletal muscle atrophy
23	HP:0007074	Thick corpus callosum
24	HP:0002943	Thoracic scoliosis
25	HP:0010775	Vascular ring
26	HP:0001629	Ventricular septal defect

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar	Disease_hgmd
NM_005027.3(PIK3R2):c.1117G>A (p.Gly373Arg)	5296	PIK3R2	Pathogenic	587776934	RCV000033029; RCV000190661;	N	MedGen:C0950123; MedGen:C1863924,OMIM:603387	19	18273784	18273784	NM_005027.3:c.1117G>A	NP_005018.1:p.Gly373Arg	19:g.18273784G>A	OMIM Allelic Variant:603157.0001	C0950123 Inborn genetic diseases; C1863924 603387 Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome
NM_005027.3(PIK3R2):c.1202T>C (p.Leu401Pro)	5296	PIK3R2	Pathogenic	587777624	RCV000133505;	N	MedGen:C1863924,OMIM:603387	19	18273869	18273869	NM_005027.3:c.1202T>C	NP_005018.1:p.Leu401Pro	19:g.18273869T>C	OMIM Allelic Variant:603157.0002	C1863924 603387 Megalencephaly polymicrogyria-polydactyly hydrocephalus syndrome