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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: Coloboma (D003103)
Parent Node: Hearing Loss, Conductive (D006314)
Parent Node: Heart Defects, Congenital (D006330)
Parent Node: Ichthyosis (D007057)
Parent Node: Intellectual Disability (D008607)
Parent Node: Neurocutaneous Syndromes (D020752)
..Starting node ..Zunich neuroectodermal syndrome (C536729)
Child Nodes:
Sister Nodes:
..Angioma hereditary neurocutaneous (C536364)
..Ataxia Telangiectasia (D001260) 6
..Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (C537943)
..Elejalde Disease (C536203)
..Encephalocraniocutaneous lipomatosis (C535736)
..Gomez Lopez Hernandez syndrome (C537285)
..Johnson neuroectodermal syndrome (C535882)
..Neurocutaneous melanosis (C537387)
..Neurofibromatoses (D017253) 13
..Nevus, Sebaceous of Jadassohn (D054000) 1
..PHACE association (C537892)
..Phacomatosis pigmentovascularis (C537894)
..Sturge-Weber Syndrome (D013341) 1
..Tuberous Sclerosis (D014402) 4
..von Hippel-Lindau Disease (D006623)
..Wyburn Mason's syndrome (C536752)
..Zunich neuroectodermal syndrome (C536729)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11882

Name:

Zunich neuroectodermal syndrome

Definition:

Alternative IDs:

ParentIDs:

TreeNumbers:

C09.218.458.341.562/C536729 |C10.562/C536729 |C10.597.606.643/C536729 |C10.597.751.418.341.562/C536729 |C11.250.110/C536729 |C14.240.400/C536729 |C14.280.400/C536729 |C16.131.077.350.712/C536729 |C16.131.240.400/C536729 |C16.131.384.282/C536729 |C16.131.831.350.71

Synonyms:

CHIME syndrome

Slim Mappings:

Reference:

MedGen: C536729
MeSH: C536729
OMIM: 280000;

Genes: PIGL;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0006721	Acute lymphoblastic leukemia
3	HP:0000248	Brachycephaly
4	HP:0002136	Broad-based gait
5	HP:0002059	Cerebral atrophy
6	HP:0000175	Cleft palate
7	HP:0004209	Clinodactyly of the 5th finger
8	HP:0000405	Conductive hearing impairment
9	HP:0005280	Depressed nasal bridge
10	HP:0000081	Duplicated collecting system
11	HP:0000286	Epicanthus
12	HP:0002213	Fine hair
13	HP:0002007	Frontal bossing
14	HP:0001290	Generalized hypotonia
15	HP:0000126	Hydronephrosis
16	HP:0000316	Hypertelorism
17	HP:0002557	Hypoplastic nipples
18	HP:0001252	Hypotonia
19	HP:0001249	Intellectual disability
20	HP:0009473	Joint contracture of the hand
21	HP:0001520	Large for gestational age
22	HP:0001176	Large hands
23	HP:0001833	Long foot
24	HP:0002562	Low-set nipples
25	HP:0000396	Overfolded helix
26	HP:0000972	Palmoplantar hyperkeratosis
27	HP:0004969	Peripheral pulmonary artery stenosis
28	HP:0011220	Prominent forehead
29	HP:0000480	Retinal coloboma
30	HP:0001250	Seizure
31	HP:0000322	Short philtrum
32	HP:0008070	Sparse hair
33	HP:0001636	Tetralogy of Fallot
34	HP:0000179	Thick lower lip vermilion
35	HP:0001669	Transposition of the great arteries
36	HP:0000074	Ureteropelvic junction obstruction
37	HP:0001629	Ventricular septal defect
38	HP:0008760	Violent behavior
39	HP:0000465	Webbed neck
40	HP:0000154	Wide mouth
41	HP:0000431	Wide nasal bridge
42	HP:0000687	Widely spaced teeth

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_004278.3(PIGL):c.4G>A (p.Glu2Lys)	9487	PIGL	Uncertain significance	150000731	RCV000147265;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16120544	16120544	NM_004278.3:c.4G>A	NP_004269.1:p.Glu2Lys	NC_000017.10:g.16120544G>A	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.30G>T (p.Ala10=)	9487	PIGL	Uncertain significance	147669920	RCV000147256;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16120570	16120570	NM_004278.3:c.30G>T	NP_004269.1:p.Ala10=	NC_000017.10:g.16120570G>T	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.169T>C (p.Phe57Leu)	9487	PIGL	Uncertain significance	587784324	RCV000147255;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16120709	16120709	NM_004278.3:c.169T>C	NP_004269.1:p.Phe57Leu	NC_000017.10:g.16120709T>C	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.337G>T (p.Asp113Tyr)	9487	PIGL	Uncertain significance	114670807	RCV000147257;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16203203	16203203	NM_004278.3:c.337G>T	NP_004269.1:p.Asp113Tyr	NC_000017.10:g.16203203G>T	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.354A>G (p.Pro118=)	9487	PIGL	Uncertain significance	149094276	RCV000147258;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16203220	16203220	NM_004278.3:c.354A>G	NP_004269.1:p.Pro118=	NC_000017.10:g.16203220A>G	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.424C>A (p.Leu142Met)	9487	PIGL	Uncertain significance	115958467	RCV000147259;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16203290	16203290	NM_004278.3:c.424C>A	NP_004269.1:p.Leu142Met	NC_000017.10:g.16203290C>A	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.426+8G>A	9487	PIGL	Uncertain significance	145914582	RCV000147261;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16203300	16203300	NM_004278.3:c.426+8G>A		NC_000017.10:g.16203300G>A	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.426+14T>C	9487	PIGL	Uncertain significance	138467285	RCV000147260;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16203306	16203306	NM_004278.3:c.426+14T>C		NC_000017.10:g.16203306T>C	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.439G>A (p.Asp147Asn)	9487	PIGL	Uncertain significance	148238492	RCV000147262;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16216873	16216873	NM_004278.3:c.439G>A	NP_004269.1:p.Asp147Asn	NC_000017.10:g.16216873G>A	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.480G>A (p.Leu160=)	9487	PIGL	Uncertain significance	114697377	RCV000147263;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16216914	16216914	NM_004278.3:c.480G>A	NP_004269.1:p.Leu160=	NC_000017.10:g.16216914G>A	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.493A>C (p.Arg165=)	9487	PIGL	Uncertain significance	184077858	RCV000147264;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16216927	16216927	NM_004278.3:c.493A>C	NP_004269.1:p.Arg165=	NC_000017.10:g.16216927A>C	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.500T>C (p.Leu167Pro)	9487	PIGL	Pathogenic	145303331	RCV000023501;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16220000	16220000	NM_004278.3:c.500T>C	NP_004269.1:p.Leu167Pro	NC_000017.10:g.16220000T>C	OMIM Allelic Variant:605947.0001	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.526+10G>A	9487	PIGL	Uncertain significance	138410893	RCV000147266;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16220036	16220036	NM_004278.3:c.526+10G>A		NC_000017.10:g.16220036G>A	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.534T>C (p.Ser178=)	9487	PIGL	Uncertain significance	114145762	RCV000147267;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16221096	16221096	NM_004278.3:c.534T>C	NP_004269.1:p.Ser178=	NC_000017.10:g.16221096T>C	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.535G>A (p.Val179Met)	9487	PIGL	Uncertain significance	116591352	RCV000147268;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16221097	16221097	NM_004278.3:c.535G>A	NP_004269.1:p.Val179Met	NC_000017.10:g.16221097G>A	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.540C>T (p.Leu180=)	9487	PIGL	Uncertain significance	115695383	RCV000147269;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16221102	16221102	NM_004278.3:c.540C>T	NP_004269.1:p.Leu180=	NC_000017.10:g.16221102C>T	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.595T>C (p.Leu199=)	9487	PIGL	Uncertain significance	114176862	RCV000147270;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16221157	16221157	NM_004278.3:c.595T>C	NP_004269.1:p.Leu199=	NC_000017.10:g.16221157T>C	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.627C>T (p.Phe209=)	9487	PIGL	Uncertain significance	146164310	RCV000147271;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16221189	16221189	NM_004278.3:c.627C>T	NP_004269.1:p.Phe209=	NC_000017.10:g.16221189C>T	-	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.652C>T (p.Gln218Ter)	9487	PIGL	Pathogenic	139004722	RCV000023503;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16221214	16221214	NM_004278.3:c.652C>T	NP_004269.1:p.Gln218Ter	NC_000017.10:g.16221214C>G,NC_000017.10:g.16221214C>T	OMIM Allelic Variant:605947.0003	C1848392 280000 Zunich neuroectodermal syndrome
NM_004278.3(PIGL):c.652C>G (p.Gln218Glu)	9487	PIGL	Uncertain significance	139004722	RCV000147272;	N	MedGen:C1848392,OMIM:280000,ORPHA:3474	17	16221214	16221214	NM_004278.3:c.652C>G	NP_004269.1:p.Gln218Glu	NC_000017.10:g.16221214C>G,NC_000017.10:g.16221214C>T	-	C1848392 280000 Zunich neuroectodermal syndrome