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

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

Disease Browser
Parent Node: developmental anomaly of metabolic origin (MONDO:0015327)
Parent Node: microcephalic primordial dwarfism-insulin resistance syndrome (MONDO:0018575)
Parent Node: Seckel syndrome (MONDO:0019342)
..Starting node ..Seckel syndrome 10 ()
Child Nodes:
Sister Nodes:
..intrauterine growth retardation with increased mitomycin c sensitivity ()
..microcephaly 13, primary, autosomal recessive ()
..Seckel syndrome 1 ()
..Seckel syndrome 10 ()
..Seckel syndrome 2 ()
..Seckel syndrome 4 ()
..Seckel syndrome 5 ()
..Seckel syndrome 6 ()
..Seckel syndrome 7 ()
..Seckel syndrome 8 ()
..Seckel syndrome 9 ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

14991

Name:

Seckel syndrome 10

Definition:

Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene.

Alternative IDs:

617253

ParentIDs:

TreeNumbers:

Synonyms:

NSMCE2 Seckel syndrome; SCKL10; Seckel syndrome 10; Seckel syndrome 10; SCKL10; Seckel syndrome caused by mutation in NSMCE2; Seckel syndrome type 10

Slim Mappings:

Reference:

MedGen:
MeSH:
OMIM: 617253;
MSeqDR :
Genes:

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005112	Abdominal aortic aneurysm
3	HP:0000956	Acanthosis nigricans
4	HP:0001735	Acute pancreatitis
5	HP:0010579	Cone-shaped epiphysis
6	HP:0001635	Congestive heart failure
7	HP:0008232	Elevated circulating follicle stimulating hormone level
8	HP:0011969	Elevated circulating luteinizing hormone level
9	HP:0000833	Glucose intolerance
10	HP:0003076	Glycosuria
11	HP:0001397	Hepatic steatosis NAMDC: Hepatopathy with steatosis or oncocytic changes by liver biopsy
12	HP:0000822	Hypertension
13	HP:0003016	Metaphyseal widening
14	HP:0000252	Microcephaly
15	HP:0000308	Microretrognathia
16	HP:0000541	Retinal detachment
17	HP:0010609	Skin tags
18	HP:0003100	Slender long bone
19	HP:0001714	Ventricular hypertrophy

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs	Disease_ClinVar
NM_173685.4(NSMCE2):c.346del (p.Ser116fs)	286053	NSMCE2	Pathogenic	757613817	RCV000412505\|RCV002523902;	N	MONDO:MONDO:0014991,MedGen:C4310647,OMIM:617253\|MedGen:CN517202	8	126194425	126194425	NC_000008.10:g.126194426del	ClinGen:CA4874373,OMIM:617246.0001
NM_173685.4(NSMCE2):c.697_700dup (p.Ala234fs)	286053	NSMCE2	Pathogenic	773917653	RCV000412587;	N	MONDO:MONDO:0014991,MedGen:C4310647,OMIM:617253	8	126379079	126379080	NC_000008.10:g.126379080_126379083dup	ClinGen:CA4874479,OMIM:617246.0002	C4310647 617253 Seckel syndrome 10;
NM_173685.4(NSMCE2):c.419-18C>T	286053	NSMCE2	Conflicting interpretations of pathogenicity	372016316	RCV001335548\|RCV002070202;	N	MONDO:MONDO:0014991,MedGen:C4310647,OMIM:617253\|MedGen:CN517202	8	126369443	126369443	126369443	-

MSeqDR Portal