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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

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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: Malignant Hyperthermia (D008305)
Parent Node: Skin Abnormalities (D012868)
..Starting node ..Multiple pterygium syndrome (C537377)
Child Nodes:
........MULTIPLE PTERYGIUM SYNDROME, LETHAL TYPE (OMIM:253290)
Sister Nodes:
..Acrodermatitis (D000169) 1
..Anetoderma (D057088) 2
..Arthropathy, Erosive (C565273)
..Barber Say syndrome (C537908)
..Blepharophimosis syndrome type 1 (C536233)
..Blepharophimosis syndrome type 2 (C536234)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Blepharophimosis, Ptosis, and Epicanthus Inversus (C562419)
..Book Syndrome (C562993)
..Carney Complex (D056733) 1
..COCOON SYNDROME (OMIM:613630)
..Comedones, Familial Dyskeratotic (C562838)
..Cutis Gyrata Syndrome of Beare And Stevenson (C565129)
..Dermal Ridges, Nelson Syndrome (C565110)
..Dermal Ridges, Patternless (C565109)
..Dermoodontodysplasia (C565103)
..Dyskeratosis Congenita (D019871) 3
..Dyskeratosis, Hereditary Benign Intraepithelial (C562551)
..Ectodermal Dysplasia (D004476) 144
..Ehlers-Danlos Syndrome (D004535) 23
..Epidermolysis Bullosa (D004820) 29
..Epithelial Squamous Dysplasia, Keratinizing Desquamative, of Urinary Tract (C565584)
..Familial popliteal pterygium syndrome (C535891)
..Hairy palms and soles (C535620)
..Hemangiomatosis, Cutaneous, with Associated Features (C562438)
..Hyperkeratotic Cutaneous Capillary-Venous Malformations Associated With Cerebral Capillary Malformations (C566153)
..Hypohidrosis aith Abnormal Palmar Dermal Ridges (C565481)
..Ichthyosis (D007057) 66
..Ichthyosis-Mental Retardation Syndrome with Large Keratohyalin Granules in the Skin (C563402)
..Incontinentia Pigmenti (D007184) 2
..Keratosis Linearis with Ichthyosis Congenita and Sclerosing Keratoderma (C566600)
..Michelin tire baby syndrome (C537575)
..Microphthalmia, syndromic 7 (C537466)
..Multiple pterygium syndrome (C537377) 1
..Oculocerebrocutaneous syndrome (C538088)
..Poikiloderma with Neutropenia (C565820)
..Poikiloderma, Hereditary Sclerosing (C562824)
..Port-Wine Stain (D019339) 4
..Prolidase Deficiency (D056732)
..Pseudoxanthoma Elasticum (D011561) 2
..Pterygium Colli, Isolated (C566741)
..Ridges-off-the-end syndrome (C531754)
..Rothmund-Thomson Syndrome (D011038) 5
..Sclerema Neonatorum (D012593)
..Skin/Hair/Eye Pigmentation, Variation In, 10 (C567376)
..Skin/Hair/Eye Pigmentation, Variation In, 11 (C567374)
..Skin/Hair/Eye Pigmentation, Variation In, 4 (C567300)
..Skin/Hair/Eye Pigmentation, Variation In, 5 (C567119)
..Skin/Hair/Eye Pigmentation, Variation In, 6 (C567139)
..Skin/Hair/Eye Pigmentation, Variation In, 7 (C567155)
..Skin/Hair/Eye Pigmentation, Variation In, 8 (C567096)
..Skin/Hair/Eye Pigmentation, Variation In, 9 (C567091)
..Tight skin contracture syndrome, lethal (C536920)
..Trichothiodystrophy Syndromes (D054463) 5
..Urban Schosser Spohn syndrome (C536476)
..Vascular Hyalinosis (C564750)
..Winter Shortland Temple syndrome (C536735)
..Xeroderma Pigmentosum (D014983) 16
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7469

Name:

Multiple pterygium syndrome

Definition:

Alternative IDs:

OMIM:265000

ParentIDs:

MESH:D000015|MESH:D008305|MESH:D012868

TreeNumbers:

C16.131.077/C537377 |C16.131.831/C537377 |C17.800.804/C537377 |C23.550.505.700/C537377 |C23.550.767.600/C537377

Synonyms:

Slim Mappings:

Congenital abnormality|Pathology (process)|Skin disease

Reference:

MedGen: C537377
MeSH: C537377
OMIM: 265000;

Genes: CHRNG;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000464	Abnormality of the neck
3	HP:0008729	Absence of labia majora
4	HP:0009760	Antecubital pterygium
5	HP:0009761	Anterior clefting of vertebral bodies
6	HP:0001166	Arachnodactyly
7	HP:0002804	Arthrogryposis multiplex congenita
8	HP:0001060	Axillary pterygium
9	HP:0005617	Bilateral camptodactyly
10	HP:0001836	Camptodactyly of toe
11	HP:0000175	Cleft palate
12	HP:0000405	Conductive hearing impairment
13	HP:0000776	Congenital diaphragmatic hernia
14	HP:0000028	Cryptorchidism
15	HP:0001558	Decreased fetal movement
16	HP:0009110	Diaphragmatic eventration
17	HP:0003083	Dislocated radial head
18	HP:0000494	Downslanted palpebral fissures
19	HP:0002714	Downturned corners of mouth
20	HP:0006446	Dysplastic patella
21	HP:0000286	Epicanthus
22	HP:0004459	Exostosis of the external auditory canal
23	HP:0002949	Fused cervical vertebrae
24	HP:0000218	High palate
25	HP:0002827	Hip dislocation
26	HP:0000316	Hypertelorism
27	HP:0002557	Hypoplastic nipples
28	HP:0000047	Hypospadias
29	HP:0000023	Inguinal hernia
30	HP:0009757	Intercrural pterygium
31	HP:0002808	Kyphosis
32	HP:0000890	Long clavicles
33	HP:0000276	Long face
34	HP:0000343	Long philtrum
35	HP:0000369	Low-set ears
36	HP:0000347	Micrognathia
37	HP:0000160	Narrow mouth
38	HP:0009759	Neck pterygia
39	HP:0002643	Neonatal respiratory distress
40	HP:0006443	Patellar aplasia
41	HP:0009756	Popliteal pterygium
42	HP:0000508	Ptosis
43	HP:0002089	Pulmonary hypoplasia
44	HP:0000902	Rib fusion
45	HP:0001838	Rocker bottom foot
46	HP:0002650	Scoliosis
47	HP:0004322	Short stature
48	HP:0001159	Syndactyly
49	HP:0001884	Talipes calcaneovalgus
50	HP:0001762	Talipes equinovarus
51	HP:0001537	Umbilical hernia

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_005199.4(CHRNG):c.13C>T (p.Gln5Ter)	1146	CHRNG	Pathogenic	267606725	RCV000020002;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060	2	233404470	233404470	NM_005199.4:c.13C>T	NP_005190.4:p.Gln5Ter	NC_000002.11:g.233404470C>T	OMIM Allelic Variant:100730.0001	C0265261 265000 Multiple pterygium syndrome Escobar type
NM_005199.4(CHRNG):c.117dupC (p.Asn40Glnfs)	1146	CHRNG	Pathogenic	797044677	RCV000175799;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060	2	233404763	233404763	NM_005199.4:c.117dupC	NP_005190.4:p.Asn40Glnfs	NC_000002.11:g.233404763dupC	-	C0265261 265000 Multiple pterygium syndrome Escobar type
NM_005199.4(CHRNG):c.136C>T (p.Arg46Ter)	1146	CHRNG	Pathogenic	121912672	RCV000020009;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060	2	233404782	233404782	NM_005199.4:c.136C>T	NP_005190.4:p.Arg46Ter	NC_000002.11:g.233404782C>T	OMIM Allelic Variant:100730.0006	C0265261 265000 Multiple pterygium syndrome Escobar type
NM_005199.4(CHRNG):c.301_309dupAGGGTGCCG (p.Pro103_Ser104insArgValPro)	1146	CHRNG	Pathogenic	863223313	RCV000020005;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060	2	233405372	233405380	NM_005199.4:c.301_309dupAGGGTGCCG	NP_005190.4:p.Pro103_Ser104insArgValPro	NC_000002.11:g.233405372_233405380dupAGGGTGCCG	OMIM Allelic Variant:100730.0003	C0265261 265000 Multiple pterygium syndrome Escobar type
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.428C>G (p.Pro143Arg)	1146	CHRNG	Pathogenic	765746795	RCV000201797;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060	2	233406161	233406161	NM_005199.4:c.428C>G	NP_005190.4:p.Pro143Arg	NC_000002.11:g.233406161C>G	OMIM Allelic Variant:100730.0009	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
NM_005199.4(CHRNG):c.1408C>T (p.Arg470Ter)	1146	CHRNG	Pathogenic	121912671	RCV000020006;	N	MedGen:C0265261,OMIM:265000,ORPHA:294060	2	233410280	233410280	NM_005199.4:c.1408C>T	NP_005190.4:p.Arg470Ter	NC_000002.11:g.233410280C>T	OMIM Allelic Variant:100730.0004	C0265261 265000 Multiple pterygium syndrome Escobar type