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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: Abnormalities, Multiple (D000015)
Parent Node: Kidney Diseases (D007674)
Parent Node: Liver Diseases (D008107)
Parent Node: Peroxisomal Disorders (D018901)
..Starting node ..Zellweger Syndrome (D015211)
Child Nodes:
........Cerebrohepatorenal Syndrome, Variant Types (C565861)
........Pseudo-Zellweger syndrome (C535818)
........Zellweger leukodystrophy (C531857)
Sister Nodes:
..Acatalasia (D020642)
..Adrenoleukodystrophy (D000326) 4
..Bile acid synthesis defect, congenital, 4 (C535444)
..Chondrodysplasia Punctata, Rhizomelic (D018902) 3
..Mevalonate Kinase Deficiency (D054078)
..Peroxisome Biogenesis Disorder, Complementation Group 1 (C566568)
..Peroxisome Biogenesis Disorder, Complementation Group 11 (C566634)
..Peroxisome Biogenesis Disorder, Complementation Group 12 (C566405)
..Peroxisome Biogenesis Disorder, Complementation Group 13 (C566625)
..Peroxisome Biogenesis Disorder, Complementation Group 14 (C563964)
..Peroxisome Biogenesis Disorder, Complementation Group 3 (C566633)
..Peroxisome Biogenesis Disorder, Complementation Group 4 (C563301)
..Peroxisome Biogenesis Disorder, Complementation Group 7 (C566422)
..Peroxisome Biogenesis Disorder, Complementation Group 9 (C566387)
..Peroxisome Biogenesis Disorder, Complementation Group D (C566388)
..Peroxisome Biogenesis Disorder, Complementation Group E (C566569)
..Peroxisome Biogenesis Disorder, Complementation Group G (C566406)
..Peroxisome Biogenesis Disorder, Complementation Group H (C566626)
..Peroxisome Biogenesis Disorder, Complementation Group J (C563965)
..Peroxisome Biogenesis Disorder, Complementation Group K (C566624)
..Peroxisome Biogenesis Disorder, Complementation Group R (C566635)
..Peroxisome biogenesis disorders (C536664)
..Refsum Disease (D012035) 4
..Refsum Disease, Infantile (D052919)
..Zellweger Syndrome (D015211) 3
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

11870

Name:

Zellweger Syndrome

Definition:

An autosomal recessive disorder due to defects in PEROXISOME biogenesis which involves more than 13 genes encoding peroxin proteins of the peroxisomal membrane and matrix. Zellweger syndrome is typically seen in the neonatal period with features such as dysmorphic skull; MUSCLE HYPOTONIA; SENSORINEURAL HEARING LOSS; visual compromise; SEIZURES; progressive degeneration of the KIDNEYS and the LIVER. Zellweger-like syndrome refers to phenotypes resembling the neonatal Zellweger syndrome but seen in children or adults with apparently intact peroxisome biogenesis.

Alternative IDs:

OMIM:214100

ParentIDs:

MESH:D000015|MESH:D007674|MESH:D008107|MESH:D018901

TreeNumbers:

C06.552.970 |C10.228.140.163.100.680.970 |C12.777.419.978 |C13.351.968.419.978 |C16.131.077.970 |C16.320.565.189.680.970 |C16.320.565.663.970 |C18.452.132.100.680.970 |C18.452.648.189.680.970 |C18.452.648.663.970

Synonyms:

Slim Mappings:

Reference:

MedGen: D015211
MeSH: D015211
OMIM: 214100;

Genes: PEX1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000512	Abnormal electroretinogram
3	HP:0011039	Abnormality of the helix
4	HP:0000835	Adrenal hypoplasia
5	HP:0012592	Albuminuria
6	HP:0003355	Aminoaciduria
7	HP:0000463	Anteverted nares
8	HP:0007370	Aplasia/Hypoplasia of the corpus callosum
9	HP:0001284	Areflexia
10	HP:0001591	Bell-shaped thorax
11	HP:0000244	Brachyturricephaly
12	HP:0001623	Breech presentation
13	HP:0001088	Brushfield spots
14	HP:0000518	Cataract
15	HP:0008665	Clitoral hypertrophy
16	HP:0000028	Cryptorchidism
17	HP:0002967	Cubitus valgus
18	HP:0002750	Delayed skeletal maturation
19	HP:0003455	Elevated circulating long chain fatty acid concentration
20	HP:0000286	Epicanthus
21	HP:0010655	Epiphyseal stippling
22	HP:0001508	Failure to thrive
23	HP:0012368	Flat face
24	HP:0005469	Flat occiput
25	HP:0001290	Generalized hypotonia
26	HP:0000501	Glaucoma
27	HP:0002282	Gray matter heterotopia
28	HP:0002240	Hepatomegaly
29	HP:0001425	Heterogeneous
30	HP:0000348	High forehead
31	HP:0000218	High palate
32	HP:0002705	High, narrow palate
33	HP:0000126	Hydronephrosis
34	HP:0000316	Hypertelorism
35	HP:0006894	Hypoplastic olfactory lobes
36	HP:0001265	Hyporeflexia
37	HP:0000047	Hypospadias
38	HP:0001252	Hypotonia
39	HP:0006887	Intellectual disability, progressive
40	HP:0010864	Intellectual disability, severe
41	HP:0001401	Intrahepatic biliary dysgenesis
42	HP:0000256	Macrocephaly
43	HP:0000158	Macroglossia
44	HP:0000272	Malar flattening
45	HP:0001840	Metatarsus adductus
46	HP:0000347	Micrognathia
47	HP:0000639	Nystagmus
48	HP:0007759	Opacification of the corneal stroma
49	HP:0000543	Optic disc pallor
50	HP:0001643	Patent ductus arteriosus
51	HP:0000580	Pigmentary retinopathy
52	HP:0002126	Polymicrogyria
53	HP:0000358	Posteriorly rotated ears
54	HP:0006579	Prolonged neonatal jaundice
55	HP:0010808	Protruding tongue
56	HP:0002089	Pulmonary hypoplasia
57	HP:0005989	Redundant neck skin
58	HP:0004734	Renal cortical microcysts
59	HP:0001838	Rocker bottom foot
60	HP:0000311	Round face
61	HP:0001250	Seizure
62	HP:0000407	Sensorineural hearing impairment
63	HP:0000954	Single transverse palmar crease
64	HP:0002416	Subependymal cysts
65	HP:0001762	Talipes equinovarus
66	HP:0009487	Ulnar deviation of the hand
67	HP:0001193	Ulnar deviation of the hand or of fingers of the hand
68	HP:0000582	Upslanted palpebral fissure
69	HP:0001629	Ventricular septal defect
70	HP:0004492	Widely patent fontanelles and sutures

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_000466.2(PEX1):c.3693_3696delGTCA (p.Gln1231Hisfs)	-1	-	Likely pathogenic	769836601	RCV000169360;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92118678	92118681	NM_000466.2:c.3693_3696delGTCA	NP_000457.1:p.Gln1231Hisfs	NC_000007.13:g.92118678_92118681delTGAC	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.3379dupC (p.Arg1127Profs)	5189	PEX1	Pathogenic	794729652	RCV000185568; RCV000185569;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006; MedGen:CN168921,OMIM:601539	7	92120645	92120645	NM_000466.2:c.3379dupC	NP_000457.1:p.Arg1127Profs	NC_000007.13:g.92120645dupG	-	CN168921 601539 Peroxisome biogenesis disorder 1B; C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.2926+2T>C	5189	PEX1	Likely pathogenic	267608180	RCV000169385;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92123799	92123799	NM_000466.2:c.2926+2T>C		NC_000007.13:g.92123799A>G	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.2926+1G>A	5189	PEX1	Likely pathogenic	267608179	RCV000169032;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92123800	92123800	NM_000466.2:c.2926+1G>A		NC_000007.13:g.92123800C>T	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.2916delA (p.Gly973Alafs)	5189	PEX1	Likely pathogenic	61750426	RCV000169435;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92123811	92123811	NM_000466.2:c.2916delA	NP_000457.1:p.Gly973Alafs	NC_000007.13:g.92123811delT	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.2730delA (p.Leu910Phefs)	5189	PEX1	Likely pathogenic	61750423	RCV000169346;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92126080	92126080	NM_000466.2:c.2730delA	NP_000457.1:p.Leu910Phefs	NC_000007.13:g.92126080delT	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.2528G>A (p.Gly843Asp)	5189	PEX1	Pathogenic	61750420	RCV000032927; RCV000022416; RCV000007946; RCV000078922;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006; MedGen:C0339527, Orphanet:ORPHA65,SNOMED CT:193413001; MedGen:C1832200,ORPHA:79189; MedGen:CN221809	7	92130876	92130876	NM_000466.2:c.2528G>A	NP_000457.1:p.Gly843Asp	NC_000007.13:g.92130876C>T	HGMD:CM971144,OMIM Allelic Variant:602136.0001	C0339527 Leber's amaurosis; CN221809 not provided; C1832200 Peroxisome biogenesis disorders, Zellweger syndrome spectrum; C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.2391_2392delTC (p.Arg798Serfs)	5189	PEX1	Likely pathogenic	61750414	RCV000169203;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92131228	92131229	NM_000466.2:c.2391_2392delTC	NP_000457.1:p.Arg798Serfs	NC_000007.13:g.92131228_92131229delGA	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.2383C>T (p.Arg795Ter)	5189	PEX1	Likely pathogenic;Pathogenic	61750418	RCV000169227;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92131237	92131237	NM_000466.2:c.2383C>T	NP_000457.1:p.Arg795Ter	NC_000007.13:g.92131237G>A	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.2097dupT (p.Ile700Tyrfs)	5189	PEX1	Pathogenic	61750415	RCV000007953; RCV000078918; RCV000201307;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006; MedGen:C1856186,OMIM:234580,ORPHA:3220; MedGen:CN221809	7	92132484	92132484	NM_000466.2:c.2097dupT	NP_000457.1:p.Ile700Tyrfs	NC_000007.13:g.92132484dupA	OMIM Allelic Variant:602136.0004	C1856186 234580 Deafness enamel hypoplasia nail defects; CN221809 not provided; C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.1991T>C (p.Leu664Pro)	5189	PEX1	Likely pathogenic;Pathogenic	121434455	RCV000007949;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92134126	92134126	NM_000466.2:c.1991T>C	NP_000457.1:p.Leu664Pro	NC_000007.13:g.92134126A>G	OMIM Allelic Variant:602136.0002	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.1716_1717delCA (p.His572Glnfs)	5189	PEX1	Likely pathogenic	786204606	RCV000169363;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92136394	92136395	NM_000466.2:c.1716_1717delCA	NP_000457.1:p.His572Glnfs	NC_000007.13:g.92136394_92136395delTG	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.1501_1502delCT (p.Leu501Glufs)	5189	PEX1	Likely pathogenic	786204743	RCV000169592;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92140343	92140344	NM_000466.2:c.1501_1502delCT	NP_000457.1:p.Leu501Glufs	NC_000007.13:g.92140343_92140344delAG	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.911_912delCT (p.Ser304Cysfs)	5189	PEX1	Likely pathogenic	786204638	RCV000169419;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92146917	92146918	NM_000466.2:c.911_912delCT	NP_000457.1:p.Ser304Cysfs	NC_000007.13:g.92146917_92146918delAG	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.782_783delAA (p.Gln261Argfs)	5189	PEX1	Likely pathogenic	749067142	RCV000169270;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92147046	92147047	NM_000466.2:c.782_783delAA	NP_000457.1:p.Gln261Argfs	NC_000007.13:g.92147046_92147047delTT	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.643_647delACCAA (p.Thr215Alafs)	5189	PEX1	Likely pathogenic	786204544	RCV000169257;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92147182	92147186	NM_000466.2:c.643_647delACCAA	NP_000457.1:p.Thr215Alafs	NC_000007.13:g.92147182_92147186delTTGGT	-	C0043459 214100 Zellweger syndrome
NM_000466.2(PEX1):c.3G>A (p.Met1Ile)	5189	PEX1	Likely pathogenic	786204704	RCV000169518;	N	MedGen:C0043459,OMIM:214100,ORPHA:912,SNOMED CT:88469006	7	92157747	92157747	NM_000466.2:c.3G>A	NP_000457.1:p.Met1Ile	NC_000007.13:g.92157747C>T	-	C0043459 214100 Zellweger syndrome