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, UMDF: 1= Disease, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO

Disease Browser
Parent Node: Sudden Infant Death (D013398)
..Starting node ..Sudden Infant Death with Dysgenesis of the Testes Syndrome (C563856)
Child Nodes:
Sister Nodes:
..Sudden Infant Death with Dysgenesis of the Testes Syndrome (C563856)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:

11803

Name:

Sudden Infant Death with Dysgenesis of the Testes Syndrome

Definition:

Alternative IDs:

OMIM:608800

ParentIDs:

MESH:D013398

TreeNumbers:

C23.550.260.322.625/C563856 |C23.550.260.657.500/C563856

Synonyms:

SIDDT

Slim Mappings:

Pathology (process)

Reference:

MedGen: C563856
MeSH: C563856
OMIM: 608800;
MSeqDR :
Genes: TSPYL1;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0001939	Abnormality of metabolism/homeostasis
3	HP:0000478	Abnormality of the eye NAMDC: Ophthalmologic
4	HP:0001608	Abnormality of the voice
5	HP:0000033	Ambiguous genitalia, male
6	HP:0002104	Apnea
7	HP:0001662	Bradycardia
8	HP:0025428	Bronchospasm
9	HP:0006543	Cardiorespiratory arrest	Infantile onset
10	HP:0000028	Cryptorchidism
11	HP:0008733	Dysplastic testes
12	HP:0008872	Feeding difficulties in infancy
13	HP:0002020	Gastroesophageal reflux
14	HP:0001510	Growth delay NAMDC: Growth delay
15	HP:0025425	Laryngospasm
16	HP:0008708	Partial development of the penile shaft
17	HP:0025431	Staccato cry
18	HP:0010307	Stridor
19	HP:0008715	Testicular dysgenesis
20	HP:0001308	Tongue fasciculations

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_g	OtherIDs
NC_000023.11:g.946718C>G	-1	-	Likely pathogenic	2088000353	RCV001260590;	N	MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800, Orphanet:168593	Y	857453	857453		-
NC_000023.11:g.946718C>G	-1	-	Likely pathogenic	2088000353	RCV001260590;	N	MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800, Orphanet:168593	X	907453	907453		-
NM_003309.4(TSPYL1):c.920T>C (p.Leu307Ser)	7259	TSPYL1	Uncertain significance	1773301663	RCV001823544;	N	MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800, Orphanet:168593	6	116600074	116600074	116600074	-
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs)	7259	TSPYL1	Pathogenic/Likely pathogenic	775957625	RCV000993688;	N	MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800, Orphanet:168593	6	116600268	116600269	6:g.116600268_116600269del	OMIM:604714.0002
NM_003309.4(TSPYL1):c.460dup (p.Glu154fs)	7259	TSPYL1	Pathogenic	-1	RCV000005716;	N	MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800, Orphanet:168593	6	116600533	116600534	NC_000006.11:g.116600535dup	OMIM:604714.0001
NM_003309.4(TSPYL1):c.236del (p.Gly79fs)	7259	TSPYL1	Likely pathogenic	776649638	RCV001270429;	N	MONDO:MONDO:0012124,MedGen:C1837371,OMIM:608800, Orphanet:168593	6	116600758	116600758	6:g.116600758_116600758del	-

MSeqDR Portal