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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: Cleft Lip (D002971)
Parent Node: Cleft Palate (D002972)
Parent Node: Eye Abnormalities (D005124)
Parent Node: Syndactyly (D013576)
..Starting node ..Popliteal Pterygium Syndrome, Lethal Type (C564874)
Child Nodes:
Sister Nodes:
..Acrocephalosyndactylia (D000168) 11
..Aphalangia syndactyly microcephaly (C537787)
..Arterial Occlusive Disease, Progressive, with Hypertension, Heart Defects, Bone Fragility, and Brachysyndactyly (C566529)
..Aurocephalosyndactyly (C566235)
..Blepharophimosis with ptosis, syndactyly, and short stature (C536235)
..Bonneau Syndrome (C564875)
..Brachydactyly-Syndactyly Syndrome (C565193)
..Ectodermal dysplasia mental retardation syndactyly (C538018)
..ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 (OMIM:613573)
..ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 2 (OMIM:613576)
..Eyebrows duplication of, with stretchable skin and syndactyly (C536383)
..Fibular Aplasia, Tibial Campomelia, and Oligosyndactyly Syndrome (C565436)
..Filippi syndrome (C538152)
..Frints De Smet Fabry Fryns syndrome (C538062)
..Gollop Coates syndrome (C537283)
..Green Sandford Davison syndrome (C538221)
..Kleiner Holmes syndrome (C536885)
..Kozlowski-Krajewska syndrome (C537615)
..Lacrimoauriculodentodigital syndrome (C538132)
..Landy Donnai syndrome (C537266)
..Martinez Monasterio Pinheiro syndrome (C536027)
..Naguib-Richieri-Costa syndrome (C538332)
..Oculodentodigital Dysplasia (C563160)
..Oculodentodigital Dysplasia, Autosomal Recessive (C567605)
..Oculodentoosseous dysplasia recessive (C537733)
..Orofacial Cleft 7 (C563464)
..Orstavik Lindemann Solberg syndrome (C537137)
..Pavone Fiumara Rizzo syndrome (C536313)
..Pfeiffer Rockelein syndrome (C537890)
..Piepkorn Karp Hickok syndrome (C535774)
..Poland Syndrome (D011045)
..Polydactyly, Postaxial, Type A4 (C563909)
..Polysyndactyly, Crossed (C566773)
..Popliteal Pterygium Syndrome (C562509)
..Popliteal Pterygium Syndrome, Lethal Type (C564874)
..Radio-ulnar synostosis type 1 (C536268)
..Radio-ulnar synostosis type 2 (C536269)
..Rosselli-Gulienetti Syndrome (C563117)
..Sclerosteosis (C537525)
..Scott Bryant Graham syndrome (C537528)
..Short Stature, Facial Dysmorphism, Severe Brachydactyly, and Syndactyly (C567093)
..STAPES ANKYLOSIS WITH BROAD THUMB AND TOES (OMIM:184460)
..Syndactyly Cenani Lenz type (C538150)
..Syndactyly, Mesoaxial Synostotic, with Phalangeal Reduction (C563721)
..Syndactyly, type 2 (C538153)
..Syndactyly, type 3 (C538154)
..Syndactyly, Type I (C566096)
..Syndactyly, Type IV (C566092)
..Syndactyly, type v (C538155)
..Syndactyly-Polydactyly-Earlobe Syndrome (C566091)
..Synpolydactyly 1 (C566094)
..Timothy syndrome (C536962)
..Toe Syndactyly, Telecanthus, and Anogenital and Renal Malformations (C567475)
..Trueb Burg Bottani syndrome (C536565)
..Winter Shortland Temple syndrome (C536735)
..Zerres Rietschel Majewski syndrome (C536724)
..Zlotogora-Ogur syndrome (C536726)
..Zygodactyly 1 (C565223)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9132

Name:

Popliteal Pterygium Syndrome, Lethal Type

Definition:

Alternative IDs:

ParentIDs:

MESH:D002971|MESH:D002972|MESH:D005124|MESH:D013576

TreeNumbers:

C05.116.099.370.894.819/C564874 |C05.500.460.185/C564874 |C05.660.207.540.460.185/C564874 |C05.660.585.800/C564874 |C05.660.906.819/C564874 |C07.320.440.185/C564874 |C07.465.409.225/C564874 |C07.465.525.164/C564874 |C07.465.525.185/C564874 |C07.650.500.460.185/C5

Synonyms:

Aslan Multiple Pterygium Syndrome |Bartsocas-Papas Syndrome |Multiple Pterygium Syndrome, Aslan Type |Pterygium, Popliteal, Lethal Type

Slim Mappings:

Congenital abnormality|Eye disease|Mouth disease|Musculoskeletal disease

Reference:

MedGen: C564874
MeSH: C564874
OMIM: 263650;

Genes: RIPK4;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0002223	Absent eyebrow
3	HP:0000561	Absent eyelashes
4	HP:0009777	Absent thumb
5	HP:0007418	Alopecia totalis	HP:0040283
6	HP:0000062	Ambiguous genitalia
7	HP:0002025	Anal stenosis
8	HP:0009755	Ankyloblepharon
9	HP:0001798	Anonychia
10	HP:0008689	Bilateral cryptorchidism	HP:0040283
11	HP:0000175	Cleft palate
12	HP:0000204	Cleft upper lip
13	HP:0000378	Cupped ear	HP:0040283
14	HP:0002006	Facial cleft
15	HP:0000316	Hypertelorism	HP:0040283
16	HP:0000327	Hypoplasia of the maxilla	HP:0040283
17	HP:0000059	Hypoplastic labia majora
18	HP:0000050	Hypoplastic male external genitalia	HP:0040283
19	HP:0000882	Hypoplastic scapulae	HP:0040283
20	HP:0001511	Intrauterine growth retardation
21	HP:0000369	Low-set ears
22	HP:0000347	Micrognathia	HP:0040283
23	HP:0000568	Microphthalmia	HP:0040283
24	HP:0007759	Opacification of the corneal stroma	HP:0040283
25	HP:0009756	Popliteal pterygium
26	HP:0003196	Short nose
27	HP:0009803	Short phalanx of finger
28	HP:0001792	Small nail
29	HP:0001159	Syndactyly
30	HP:0006610	Wide intermamillary distance	HP:0040283

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_020639.2(RIPK4):c.1127C>A (p.Ser376Ter)	54101	RIPK4	Pathogenic	387906921	RCV000023468;	N	MedGen:C1849718,OMIM:263650,ORPHA:1234	21	43164110	43164110	NM_020639.2:c.1127C>A	NP_065690.2:p.Ser376Ter	NC_000021.8:g.43164110G>T	OMIM Allelic Variant:605706.0001	C1849718 263650 Popliteal pterygium syndrome lethal type
NM_020639.2(RIPK4):c.362T>A (p.Ile121Asn)	54101	RIPK4	Pathogenic	387906923	RCV000023470;	N	MedGen:C1849718,OMIM:263650,ORPHA:1234	21	43176797	43176797	NM_020639.2:c.362T>A	NP_065690.2:p.Ile121Asn	NC_000021.8:g.43176797A>T	OMIM Allelic Variant:605706.0003	C1849718 263650 Popliteal pterygium syndrome lethal type
NM_020639.2(RIPK4):c.242T>A (p.Ile81Asn)	54101	RIPK4	Pathogenic	387906922	RCV000023469;	N	MedGen:C1849718,OMIM:263650,ORPHA:1234	21	43176917	43176917	NM_020639.2:c.242T>A	NP_065690.2:p.Ile81Asn	NC_000021.8:g.43176917A>T	OMIM Allelic Variant:605706.0002	C1849718 263650 Popliteal pterygium syndrome lethal type