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Hello! Guest! Please Login or Register! Clinician Mode

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: Arthrogryposis (D001176)
Parent Node: Diseases (C)
Parent Node: Fetal Diseases (D005315)
Parent Node: Multiple pterygium syndrome (C537377)
..Starting node ..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Child Nodes:
Sister Nodes:
..MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7471

Name:

MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE

Definition:

Alternative IDs:

ParentIDs:

MESH:C537377|MESH:D001176|MESH:D005315

TreeNumbers:

C05.550.150/253290 |C05.651.102/253290 |C05.660.077/253290 |C13.703.277/253290 |C16.131.077/C537377/253290 |C16.131.621.077/253290 |C16.131.831/C537377/253290 |C16.300/253290 |C17.800.804/C537377/253290 |C23.550.505.700/C537377/253290 |C23.550.767.600/C537377/2532

Synonyms:

LMPS |PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE

Slim Mappings:

Reference:

MedGen: 253290
MeSH: 253290
OMIM: 253290;

Genes: CHRNA1; CHRND; CHRNG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005905	Abnormal cervical curvature
3	HP:0001999	Abnormal facial shape
4	HP:0002304	Akinesia
5	HP:0003634	Amyoplasia
6	HP:0000175	Cleft palate
7	HP:0000476	Cystic hygroma
8	HP:0000457	Depressed nasal ridge
9	HP:0000969	Edema
10	HP:0000286	Epicanthus
11	HP:0001989	Fetal akinesia sequence
12	HP:0001371	Flexion contracture
13	HP:0000316	Hypertelorism
14	HP:0001961	Hypoplastic heart
15	HP:0002659	Increased susceptibility to fractures
16	HP:0001511	Intrauterine growth retardation
17	HP:0001373	Joint dislocation
18	HP:0000369	Low-set ears
19	HP:0002047	Malignant hyperthermia
20	HP:0000347	Micrognathia
21	HP:0001040	Multiple pterygia
22	HP:0001561	Polyhydramnios
23	HP:0002089	Pulmonary hypoplasia
24	HP:0009381	Short finger
25	HP:0000883	Thin ribs
26	HP:0002948	Vertebral fusion

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_001039523.2(CHRNA1):c.761G>T (p.Arg254Leu)	1134	CHRNA1	Pathogenic	137852809	RCV000020056;	N	MedGen:C1854678,OMIM:253290,ORPHA:33108,SNOMED CT:60192008	2	175618323	175618323	NM_001039523.2:c.761G>T	NP_001034612.1:p.Arg254Leu	NC_000002.11:g.175618323C>A	OMIM Allelic Variant:100690.0013	C1854678 253290 Lethal multiple pterygium syndrome
NM_000751.2(CHRND):c.234G>A (p.Trp78Ter)	1144	CHRND	Pathogenic	121909505	RCV000020036;	N	MedGen:C1854678,OMIM:253290,ORPHA:33108,SNOMED CT:60192008	2	233392146	233392146	NM_000751.2:c.234G>A	NP_000742.1:p.Trp78Ter	NC_000002.11:g.233392146G>A	OMIM Allelic Variant:100720.0005	C1854678 253290 Lethal multiple pterygium syndrome
NM_000751.2(CHRND):c.283T>C (p.Phe95Leu)	1144	CHRND	Pathogenic	121909506	RCV000020037;	N	MedGen:C1854678,OMIM:253290,ORPHA:33108,SNOMED CT:60192008	2	233393011	233393011	NM_000751.2:c.283T>C	NP_000742.1:p.Phe95Leu	NC_000002.11:g.233393011T>C	OMIM Allelic Variant:100720.0006	C1854678 253290 Lethal multiple pterygium syndrome
NM_000751.2(CHRND):c.1390C>T (p.Arg464Ter)	1144	CHRND	Pathogenic	121909507	RCV000020038;	N	MedGen:C1854678,OMIM:253290,ORPHA:33108,SNOMED CT:60192008	2	233399858	233399858	NM_000751.2:c.1390C>T	NP_000742.1:p.Arg464Ter	NC_000002.11:g.233399858C>T	OMIM Allelic Variant:100720.0007	C1854678 253290 Lethal multiple pterygium syndrome
NM_005199.4(CHRNG):c.320T>G (p.Val107Gly)	1146	CHRNG	Pathogenic	267606726	RCV000020007; RCV000020008;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060; MedGen:C1854678,OMIM:253290,ORPHA:33108,SNOMED CT:60192008	2	233405391	233405391	NM_005199.4:c.320T>G	NP_005190.4:p.Val107Gly	NC_000002.11:g.233405391T>G	OMIM Allelic Variant:100730.0005	C1854678 253290 Lethal multiple pterygium syndrome; C0265261 265000 Multiple pterygium syndrome Escobar type
NM_005199.4(CHRNG):c.715C>T (p.Arg239Cys)	1146	CHRNG	Pathogenic	121912670	RCV000020003; RCV000020004;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060; MedGen:C1854678,OMIM:253290,ORPHA:33108,SNOMED CT:60192008	2	233407702	233407702	NM_005199.4:c.715C>T	NP_005190.4:p.Arg239Cys	NC_000002.11:g.233407702C>T	OMIM Allelic Variant:100730.0002	C1854678 253290 Lethal multiple pterygium syndrome; C0265261 265000 Multiple pterygium syndrome Escobar type
NM_005199.4(CHRNG):c.753_754delCT (p.Val253Alafs)	1146	CHRNG	Pathogenic	767503038	RCV000201795; RCV000020010;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060; MedGen:C1854678,OMIM:253290,ORPHA:33108,SNOMED CT:60192008	2	233407740	233407741	NM_005199.4:c.753_754delCT	NP_005190.4:p.Val253Alafs		OMIM Allelic Variant:100730.0007	C1854678 253290 Lethal multiple pterygium syndrome; C0265261 265000 Multiple pterygium syndrome Escobar type