MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

MSeqDR Mitochondrial Disease Portal

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: autosomal ichthyosis syndrome with prominent neurologics signs (MONDO:0017272)
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: disorder of copper metabolism (MONDO:0017762)
Parent Node: erythrokeratoderma (MONDO:0019270)
..Starting node ..MEDNIK syndrome ()
Child Nodes:
Sister Nodes:
..erythrokeratoderma en cocardes ()
..erythrokeratoderma variabilis progressiva ()
..erythrokeratodermia-cardiomyopathy syndrome ()
..MEDNIK syndrome ()
..pityriasis rubra pilaris ()
..spinocerebellar ataxia type 34 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

12251

Name:

MEDNIK syndrome

Definition:

MEDNIK syndrome, previously known as Erythrokeratodermia Variabilis type 3 (EKV3), is characterized by intellectual deficit, enteropathy, sensorineural hearing loss, peripheral neuropathy, lamellar and erythrodermic ichthyosis, and keratodermia (MEDNIK stands for Mental retardation, Enteropathy, Deafness, peripheral Neuropathy, Ichtyosis, Keratodermia).

Alternative IDs:

609313

ParentIDs:

TreeNumbers:

Synonyms:

erythrokeratodermia variabilis 3; erythrokeratodermia variabilis, Kamouraska type; intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome; MEDNIK; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia; mental retardation, enterop

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 609313;
MSeqDR :
Genes: AP1S1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003577	Congenital onset
3	HP:0002242	Abnormal intestine morphology
4	HP:0000518	Cataract NAMDC: Cataracts	HP:0040283
5	HP:0001396	Cholestasis
6	HP:0001394	Cirrhosis NAMDC: Cirrhosis
7	HP:0002014	Diarrhea
8	HP:0010783	Erythema
9	HP:0001290	Generalized hypotonia
10	HP:0001263	Global developmental delay NAMDC: Delayed development (evidence of at least one of A through F)
11	HP:0001263	Global developmental delay NAMDC: Mental retardation
12	HP:0001510	Growth delay NAMDC: Growth delay
13	HP:0000365	Hearing impairment
14	HP:0001395	Hepatic fibrosis
15	HP:0000348	High forehead
16	HP:0008064	Ichthyosis
17	HP:0001249	Intellectual disability
18	HP:0009830	Peripheral neuropathy
19	HP:0000582	Upslanted palpebral fissure

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_001283.5(AP1S1):c.186T>G (p.Tyr62Ter)	1174	AP1S1	Pathogenic/Likely pathogenic	981747624	RCV000760751\|RCV001731918;	N	MedGen:C3661900\|MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313, Orphanet:171851	7	100800661	100800661	NC_000007.13:g.100800661T>G	-
NM_001283.5(AP1S1):c.183-2A>G	1174	AP1S1	Pathogenic	751430853	RCV000033081;	N	MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313, Orphanet:171851	7	100800656	100800656	NC_000007.13:g.100800656A>G	OMIM:603531.0001	C1836330 609313 Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma;
NM_001283.5(AP1S1):c.364dup (p.Asp122fs)	1174	AP1S1	Likely pathogenic	767358930	RCV000598932\|RCV001215772;	N	MedGen:C3661900\|MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313, Orphanet:171851	7	100802404	100802405	NC_000007.13:g.100802412dup	ClinGen:CA4405984,OMIM:603531.0002
NM_001283.5(AP1S1):c.364del (p.Asp122fs)	1174	AP1S1	Likely pathogenic	767358930	RCV000991384\|RCV001593169;	N	MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313, Orphanet:171851\|MedGen:C3661900	7	100802405	100802405	7:g.100802405_100802405del	-
NM_001283.5(AP1S1):c.117C>G (p.Val39=)	1174	AP1S1	Benign/Likely benign	148305541	RCV000960620\|RCV002489351;	N	MedGen:C3661900\|MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313, Orphanet:171851	7	100799988	100799988	7:g.100799988C>G	-
NM_001283.5(AP1S1):c.182+78T>C	1174	AP1S1	Benign	4727481	RCV001554009\|RCV001709739;	N	MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313, Orphanet:171851\|MedGen:C3661900	7	100800131	100800131	100800131	-
NM_001283.5(AP1S1):c.298G>A (p.Glu100Lys)	1174	AP1S1	Uncertain significance	-1	RCV003448873;	N	MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313, Orphanet:171851	7	100802346	100802346		-
NM_001283.5(AP1S1):c.220C>T (p.Gln74Ter)	-1	AP1S1;LOC126860125	Likely pathogenic	1584203922	RCV000991383;	N	MONDO:MONDO:0012251,MedGen:C1836330,OMIM:609313, Orphanet:171851	7	100800695	100800695	7:g.100800695C>T	-

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