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Hello! Guest! Please Login or Register! Clinician Mode

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: Aicardi-Goutieres syndrome (C535607)
Parent Node: Calcinosis (D002114)
Parent Node: Developmental Disabilities (D002658)
Parent Node: Diseases (C)
Parent Node: Malformations of Cortical Development (D054220)
Parent Node: Microcephaly (D008831)
..Starting node ..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
Child Nodes:
Sister Nodes:
..Absent Eyebrows and Eyelashes with Mental Retardation (C563111)
..Achalasia microcephaly (C536010)
..Agammaglobulinemia, microcephaly, and severe dermatitis (C538055)
..Alaninuria with Microcephaly, Dwarfism, Enamel Hypoplasia, and Diabetes Mellitus (C565968)
..Amish lethal microcephaly (C538247)
..Anonychia, Total, with Microcephaly (C564606)
..Aphalangia syndactyly microcephaly (C537787)
..Ataxia-Microcephaly-Cataract Syndrome (C563086)
..Autosomal Recessive Primary Microcephaly (C579935)
..Baetz-Greenwalt syndrome (C537795)
..BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA (OMIM:251290)
..Baraitser Brett Piesowicz syndrome (C537905)
..Battaglia Neri syndrome (C537662)
..BEAULIEU-BOYCOTT-INNES SYNDROME (OMIM:613680)
..Bixler Christian Gorlin syndrome (C537632)
..Boudhina Yedes Khiari syndrome (C537939)
..Brachydactyly, Type A2, With Microcephaly (C565894)
..Branchial arch syndrome X-linked (C537102)
..Bullous Dystrophy, Hereditary Macular Type (C563065)
..CAMFAK syndrome (C537965)
..Cardiac Malformation, Cleft Lip-Palate, Microcephaly and Digital Anomalies (C563414)
..Cataract, Microcephaly, Arthrogryposis, Kyphosis Syndrome (C566861)
..Chromosomal Instability with Tissue-Specific Radiosensitivity (C565848)
..Chromosome 15q26-Qter Deletion Syndrome (C567232)
..CHROMOSOME 17p13.1 DELETION SYNDROME (OMIM:613776)
..CHROMOSOME 3pter-p25 DELETION SYNDROME (OMIM:613792)
..CK SYNDROME (OMIM:300831)
..Cohen syndrome (C536438)
..Craniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..Dislocated Elbows, Bowed Tibias, Scoliosis, Deafness, Cataract, Microcephaly, And Mental Retardation (C566408)
..Dubowitz syndrome (C535718)
..Ellis Yale Winter syndrome (C536205)
..Encephalopathy with Intracranial Calcification, Growth Hormone Deficiency, Microcephaly, and Retinal Degeneration (C565594)
..Extrasystoles, Multiform Ventricular, with Short Stature, Hyperpigmentation and Microcephaly (C565032)
..Filippi syndrome (C538152)
..FORSYTHE-WAKELING SYNDROME (OMIM:613606)
..Galloway Mowat syndrome (C537548)
..GOMBO syndrome (C537284)
..Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate (C537405)
..Growth Deficiency and Mental Retardation with Facial Dysmorphism (C565358)
..Hadziselimovic Syndrome (C567850)
..Halal syndrome (C535622)
..Hersh Podruch Weisskopk syndrome (C538114)
..Hoyeraal Hreidarsson syndrome (C536068)
..Hypogonadism with Low-Grade Mental Deficiency and Microcephaly (C565482)
..Hypospadias-Mental Retardation Syndrome (C563067)
..Jejunal Atresia with Microcephaly and Ocular Anomalies (C565460)
..Jorgenson Lenz syndrome (C536292)
..Kaufman oculocerebrofacial syndrome (C537013)
..Lambotte syndrome (C537549)
..Lissencephaly 3 (C566908)
..Lowry Wood syndrome (C537038)
..Lymphedema, microcephaly and chorioretinopathy syndrome (C537711)
..MacDermot Winter syndrome (C537714)
..Marfanoid Habitus with Microcephaly and Glomerulonephritis (C565411)
..MEHMO syndrome (C537451)
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation, Microcephaly, Epilepsy, And Coarse Face (C563342)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Christianson Type (C567484)
..Microcephalic osteodysplastic primordial dwarfism, type 1 (C537577)
..Microcephalic osteodysplastic primordial dwarfism, type 3 (C537320)
..Microcephalic Osteodysplastic Primordial Dwarfism, Type II (C565898)
..Microcephalic primordial dwarfism Toriello type (C537321)
..Microcephaly albinism digital anomalies syndrome (C537322)
..Microcephaly autosomal dominant (C537323)
..Microcephaly cervical spine fusion anomalies (C537325)
..Microcephaly deafness syndrome (C537326)
..Microcephaly microphthalmos blindness (C537541)
..Microcephaly nonsyndromal (C537542)
..Microcephaly pontocerebellar hypoplasia dyskinesia (C537543)
..Microcephaly seizures genital hypoplasia (C537540)
..Microcephaly seizures mental retardation heart disorders (C537544)
..Microcephaly sparse hair mental retardation seizures (C537545)
..Microcephaly with Chemotactic Defect and Transient Hypogammaglobulinemia (C565381)
..Microcephaly with Chorioretinopathy, Autosomal Dominant (C563583)
..Microcephaly with Chorioretinopathy, Autosomal Recessive (C565379)
..Microcephaly with Mental Retardation and Digital Anomalies (C567101)
..Microcephaly with Simplified Gyral Pattern (C566332)
..Microcephaly with spastic quadriplegia (C537546)
..Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, and Hyposegmented Lungs (C563341)
..Microcephaly, corpus callosum dysgenesis and cleft lip-palate (C537547)
..Microcephaly, Growth Retardation, Cataract, Hearing Loss, And Unusual Appearance (C567849)
..Microcephaly, Macrotia, And Mental Retardation (C566525)
..Microcephaly, microphthalmia, ectrodactyly of lower limbs, and prognathism (C537686)
..MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY (OMIM:613668)
..Microcephaly, Primary Autosomal Recessive, 1 (C565384)
..Microcephaly, Primary Autosomal Recessive, 2 (C565794)
..Microcephaly, Primary Autosomal Recessive, 3 (C565746)
..Microcephaly, Primary Autosomal Recessive, 4 (C565792)
..Microcephaly, Primary Autosomal Recessive, 5 (C563871)
..Microcephaly, Primary Autosomal Recessive, 5, with Simplified Gyral Pattern (C567221)
..Microcephaly, Primary Autosomal Recessive, 6 (C564247)
..Microcephaly, Primary Autosomal Recessive, 7 (C567198)
..Microcephaly, Retinitis Pigmentosa, and Sutural Cataract (C563296)
..MICROCEPHALY, SEIZURES, AND DEVELOPMENTAL DELAY (OMIM:613402)
..Microcephaly, Severe, with Skeletal Anomalies including Posterior Rib-Gap Defects (C566377)
..Microcephaly-Micromelia Syndrome (C565382)
..Microhydranencephaly (C537555)
..Microphthalmia and mental deficiency (C537462)
..Milner Khallouf Gibson syndrome (C537473)
..Mirhosseini-Holmes-Walton syndrome (C538367)
..Mowat-Wilson syndrome (C536990)
..Muscular Dystrophy, Congenital, associated with Calf Hypertrophy, Microcephaly, and Severe Mental Retardation (C565506)
..Neu Laxova syndrome (C536405)
..Nijmegen Breakage Syndrome-Like Disorder (C567767)
..Oculodigitoesophagoduodenal syndrome (C537734)
..Oculopalatocerebral Syndrome (C564935)
..Osteogenesis imperfecta congenita, microcephaly, and cataracts (C537558)
..Paine syndrome (C538101)
..Partington Anderson syndrome (C536299)
..Phosphoglycerate Dehydrogenase Deficiency (C566618)
..Phosphoserine Aminotransferase Deficiency (C567032)
..PONTOCEREBELLAR HYPOPLASIA, TYPE 4 (OMIM:225753)
..Porencephaly (D065708) 1
..Raine syndrome (C535282)
..RAJAB SYNDROME (OMIM:613658)
..Sammartino De Crecchio Syndrome (C537229)
..Say Barber Miller syndrome (C536618)
..Say syndrome (C536621)
..Schimke X-linked mental retardation syndrome (C536630)
..Seckel syndrome 1 (C537533)
..Seckel syndrome 2 (C537534)
..Seckel Syndrome 3 (C563881)
..SECKEL SYNDROME 4 (OMIM:613676)
..Secretory Diarrhea, Myopathy, and Deafness (C564382)
..Seemanova Lesny syndrome (C537536)
..Severe Combined Immunodeficiency with Microcephaly, Growth Retardation, and Sensitivity to Ionizing Radiation (C566970)
..Silengo Lerone Pelizza syndrome (C537336)
..Spastic Paraplegia, Optic Atrophy, Microcephaly, And Xy Sex Reversal (C566409)
..Spinal Muscular Atrophy with Microcephaly and Mental Subnormality (C564806)
..Spondyloepimetaphyseal dysplasia, Genevieve type (C535785)
..Teebi Kaurah syndrome (C536948)
..Trichodental syndrome (C536551)
..Tsukahara Syndrome (C566376)
..Warburg Sjo Fledelius syndrome (C536681)
..Warburton Anyane Yeboa syndrome (C536682)
..Winship Viljoen Leary syndrome (C536711)
..Zerres Rietschel Majewski syndrome (C536724)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

1143

Name:

BAND-LIKE CALCIFICATION WITH SIMPLIFIED GYRATION AND POLYMICROGYRIA

Definition:

Alternative IDs:

ParentIDs:

MESH:C535607|MESH:D002114|MESH:D002658|MESH:D008831|MESH:D054220

TreeNumbers:

C05.660.207.620/251290 |C10.114/C535607/251290 |C10.500.507/251290 |C10.500.507.400.500/251290 |C10.500/C535607/251290 |C16.131.621.207.620/251290 |C16.131.666.507/251290 |C16.131.666.507.400.500/251290 |C16.131.666/C535607/251290 |C18.452.174.130/251290 |C20.111.

Synonyms:

BLCPMG |PSEUDO-TORCH SYNDROME

Slim Mappings:

Reference:

MedGen: 251290
MeSH: 251290
OMIM: 251290;

Genes: OCLN;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000463	Anteverted nares
3	HP:0000518	Cataract	HP:0040283
4	HP:0001321	Cerebellar hypoplasia
5	HP:0002514	Cerebral calcification
6	HP:0001410	Decreased liver function
7	HP:0002910	Elevated hepatic transaminase
8	HP:0001508	Failure to thrive
9	HP:0001263	Global developmental delay
10	HP:0002240	Hepatomegaly
11	HP:0000218	High palate
12	HP:0002922	Increased CSF protein
13	HP:0002187	Intellectual disability, profound
14	HP:0000952	Jaundice
15	HP:0000343	Long philtrum
16	HP:0000369	Low-set ears
17	HP:0000252	Microcephaly
18	HP:0000308	Microretrognathia
19	HP:0008936	Muscular hypotonia of the trunk
20	HP:0000639	Nystagmus
21	HP:0007759	Opacification of the corneal stroma	HP:0040283
22	HP:0001302	Pachygyria
23	HP:0000967	Petechiae
24	HP:0003812	Phenotypic variability
25	HP:0002126	Polymicrogyria
26	HP:0000083	Renal insufficiency	HP:0040283
27	HP:0001250	Seizure
28	HP:0000340	Sloping forehead
29	HP:0001257	Spasticity
30	HP:0001744	Splenomegaly
31	HP:0001873	Thrombocytopenia
32	HP:0002119	Ventriculomegaly

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
NM_002538.3(OCLN):c.4T>C (p.Ser2Pro)	100506658	OCLN	Uncertain significance	113706384	RCV000146972;	N	MedGen:C3489725,OMIM:251290	5	68800075	68800075	NM_002538.3:c.4T>C	NP_002529.1:p.Ser2Pro	NC_000005.9:g.68800075T>C	-	C3489725 251290 Band-like calcification with simplified gyration and polymicrogyria
NM_002538.3(OCLN):c.173_194del22 (p.Trp58Phefs)	100506658	OCLN	Pathogenic	797045841	RCV000192882;	N	MedGen:C3489725,OMIM:251290	5	68805090	68805111	NM_002538.3:c.173_194del22	NP_002529.1:p.Trp58Phefs	NC_000005.9:g.68805090_68805111del22	-	C3489725 251290 Band-like calcification with simplified gyration and polymicrogyria
NM_002538.3(OCLN):c.252delC (p.Ser85Profs)	100506658	OCLN	Likely pathogenic	863225128	RCV000201608;	N	MedGen:C3489725,OMIM:251290	5	68805169	68805169	NM_002538.3:c.252delC	NP_002529.1:p.Ser85Profs	NC_000005.9:g.68805169delC	-	C3489725 251290 Band-like calcification with simplified gyration and polymicrogyria
NM_002538.3(OCLN):c.384C>T (p.Tyr128=)	100506658	OCLN	Uncertain significance	150730577	RCV000146970;	N	MedGen:C3489725,OMIM:251290	5	68805301	68805301	NM_002538.3:c.384C>T	NP_002529.1:p.Tyr128=	NC_000005.9:g.68805301C>T	-	C3489725 251290 Band-like calcification with simplified gyration and polymicrogyria
NM_002538.3(OCLN):c.452C>T (p.Ala151Val)	100506658	OCLN	Uncertain significance	28562785	RCV000146971;	N	MedGen:C3489725,OMIM:251290	5	68805369	68805369	NM_002538.3:c.452C>T	NP_002529.1:p.Ala151Val	NC_000005.9:g.68805369C>T	-	C3489725 251290 Band-like calcification with simplified gyration and polymicrogyria
NM_002538.3(OCLN):c.656T>C (p.Phe219Ser)	100506658	OCLN	Pathogenic	267606926	RCV000007144;	N	MedGen:C3489725,OMIM:251290	5	68805573	68805573	NM_002538.3:c.656T>C	NP_002529.1:p.Phe219Ser	NC_000005.9:g.68805573T>C	OMIM Allelic Variant:602876.0003	C3489725 251290 Band-like calcification with simplified gyration and polymicrogyria
NM_002538.3(OCLN):c.1037+5G>A	100506658	OCLN	Pathogenic	797045840	RCV000194654;	N	MedGen:C3489725,OMIM:251290	5	68830671	68830671	NM_002538.3:c.1037+5G>A		NC_000005.9:g.68830671G>A	-	C3489725 251290 Band-like calcification with simplified gyration and polymicrogyria