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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: Cerebral Palsy (D002547)
Parent Node: Mental Retardation, X-Linked (D038901)
..Starting node ..Renpenning syndrome 1 (C537761)
Child Nodes:
Sister Nodes:
..Abidi X-linked mental retardation syndrome (C535556)
..Adrenoleukodystrophy (D000326) 4
..Aldred syndrome (C537046)
..Allan-Herndon-Dudley syndrome (C537047)
..Arena syndrome (C537428)
..Armfield X-Linked Mental Retardation Syndrome (C564551)
..Atkin syndrome (C538195)
..ATR-X syndrome (C538258)
..Borjeson-Forssman-Lehmann syndrome (C536575)
..Brooks-Wisniewski-Brown Syndrome (C563154)
..Chromosome Xp11.3 Deletion Syndrome (C564481)
..CK SYNDROME (OMIM:300831)
..Clark-Baraitser syndrome (C536208)
..Classical Lissencephalies and Subcortical Band Heterotopias (D054221) 5
..Coffin-Lowry Syndrome (D038921)
..Cowchock syndrome (C536450)
..Creatine deficiency, X-linked (C535598)
..Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations (C566878)
..Faciogenital Dysplasia with Attention Deficit-Hyperactivity Disorder (C564427)
..Fragile X Syndrome (D005600) 3
..Glycogen Storage Disease Type IIb (D052120)
..Lesch-Nyhan Syndrome (D007926) 1
..Lubs X-linked mental retardation syndrome (C537723)
..Lujan Fryns syndrome (C537724)
..MEHMO syndrome (C537451)
..Menkes Kinky Hair Syndrome (D007706) 1
..Mental Retardation And Microcephaly With Pontine And Cerebellar Hypoplasia (C567466)
..Mental Retardation with Psychosis, Pyramidal Signs, and Macroorchidism (C564724)
..Mental retardation X-linked syndromic 7 (C537449)
..Mental retardation X-linked, South African type (C537450)
..Mental Retardation, X-Linked 1 (C567906)
..Mental retardation, X-linked 14 (C537454)
..Mental Retardation, X-Linked 16 (C563139)
..Mental Retardation, X-Linked 17 (C563140)
..Mental Retardation, X-Linked 19 (C563141)
..Mental Retardation, X-Linked 2 (C563135)
..Mental Retardation, X-Linked 20 (C563142)
..MENTAL RETARDATION, X-LINKED 21 (OMIM:300143)
..Mental Retardation, X-Linked 23 (C563144)
..Mental Retardation, X-Linked 3 (C563136)
..Mental Retardation, X-Linked 30 (C563146)
..Mental Retardation, X-Linked 31 (C563147)
..Mental Retardation, X-Linked 34 (C563148)
..Mental Retardation, X-Linked 42 (C564524)
..Mental Retardation, X-Linked 45 (C564503)
..Mental Retardation, X-Linked 46 (C564513)
..Mental Retardation, X-Linked 47 (C563151)
..MENTAL RETARDATION, X-LINKED 49 (OMIM:300114)
..Mental Retardation, X-Linked 50 (C564713)
..Mental Retardation, X-Linked 52 (C564502)
..Mental Retardation, X-Linked 53 (C564533)
..Mental Retardation, X-Linked 58 (C564566)
..Mental Retardation, X-Linked 59 (C564470)
..Mental Retardation, X-Linked 63 (C564522)
..Mental Retardation, X-Linked 72 (C564547)
..Mental Retardation, X-Linked 73 (C564528)
..Mental Retardation, X-Linked 77 (C564511)
..Mental Retardation, X-Linked 78 (C564489)
..Mental Retardation, X-Linked 79 (C566876)
..Mental Retardation, X-Linked 81 (C564515)
..Mental Retardation, X-Linked 82 (C564496)
..Mental Retardation, X-Linked 84 (C564501)
..Mental Retardation, X-Linked 89 (C564036)
..Mental Retardation, X-Linked 9 (C563137)
..Mental Retardation, X-Linked 91 (C564482)
..Mental Retardation, X-Linked 92 (C564483)
..Mental Retardation, X-Linked 93 (C567066)
..Mental Retardation, X-Linked 94 (C567479)
..Mental Retardation, X-Linked 95 (C567470)
..MENTAL RETARDATION, X-LINKED 96 (OMIM:300802)
..Mental Retardation, X-Linked Nonsyndromic (C564490)
..Mental Retardation, X-Linked, Syndromic 10 (C564560)
..Mental Retardation, X-Linked, Syndromic 13 (C566875)
..Mental Retardation, X-Linked, Syndromic 14 (C567063)
..Mental retardation, X-linked, syndromic 5 (C535773)
..Mental Retardation, X-Linked, Syndromic 9 (C567474)
..Mental Retardation, X-Linked, Syndromic, Jarid1c-Related (C564494)
..MENTAL RETARDATION, X-LINKED, SYNDROMIC, RAYMOND TYPE (OMIM:300799)
..Mental Retardation, X-Linked, Syndromic, Ube2a-Related (C564069)
..Mental Retardation, X-Linked, Syp-Related (C567584)
..Mental Retardation, X-Linked, With Brachydactyly And Macroglossia (C567069)
..Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance (C537456)
..Mental Retardation, X-Linked, with Epilepsy (C564516)
..Mental Retardation, X-Linked, with Isolated Growth Hormone Deficiency (C564712)
..Mental Retardation, X-Linked, With Or Without Seizures, Arx-Related (C563150)
..Mental Retardation, X-Linked, with Short Stature (C564527)
..MENTAL RETARDATION, X-LINKED, WITH SHORT STATURE, HYPOGONADISM, AND ABNORMAL GAIT (OMIM:300354)
..Mental Retardation, X-Linked, With Spasticity (C566877)
..Mental retardation-hypotonic facies syndrome, x-linked, 1 (C537457)
..Microphthalmia, Syndromic 4 (C564457)
..Miles-Carpenter x-linked mental retardation syndrome (C537472)
..Mucopolysaccharidosis II (D016532)
..Opitz-Kaveggia syndrome (C537923)
..Orofaciodigital syndrome, Shashi type (C537135)
..Partington X-linked mental retardation syndrome (C536300)
..Plagiocephaly and X-linked mental retardation (C537512)
..Ppm-X Syndrome (C580387)
..Prieto X-linked mental retardation syndrome (C535274)
..Pyruvate Dehydrogenase Complex Deficiency Disease (D015325) 4
..Renpenning syndrome 1 (C537761)
..Rett Syndrome (D015518) 5
..Roifman syndrome (C535866)
..Schimke X-linked mental retardation syndrome (C536630)
..Siderius X-linked mental retardation syndrome (C537333)
..Snyder Robinson syndrome (C536678)
..Stocco dos Santos syndrome (C537495)
..Tranebjaerg Svejgaard syndrome (C536978)
..Wilson-Turner X-linked mental retardation syndrome (C536708)
..Wittwer syndrome (C536737)
..X-linked mental retardation Gustavson type (C536759)
..X-linked mental retardation type Wittwer (C536760)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

9675

Name:

Renpenning syndrome 1

Definition:

Alternative IDs:

OMIM:309500

ParentIDs:

MESH:D002547|MESH:D038901

TreeNumbers:

C10.228.140.140.254/C537761 |C10.597.606.643.455/C537761 |C16.320.322.500/C537761 |C16.320.400.525/C537761

Synonyms:

Slim Mappings:

Genetic disease (inborn)|Nervous system disease

Reference:

MedGen: C537761
MeSH: C537761
OMIM: 309500;

Genes: PQBP1;

Phenotypes

1	HP:0001419	X-linked recessive inheritance
2	HP:0001595	Abnormal hair morphology
3	HP:0001547	Abnormal rib cage morphology
4	HP:0002023	Anal atresia
5	HP:0000739	Anxiety
6	HP:0001631	Atrial septal defect
7	HP:0000618	Blindness
8	HP:0000248	Brachycephaly
9	HP:0000414	Bulbous nose
10	HP:0012385	Camptodactyly
11	HP:0000518	Cataract
12	HP:0002059	Cerebral atrophy
13	HP:0000175	Cleft palate
14	HP:0004209	Clinodactyly of the 5th finger
15	HP:0000589	Coloboma
16	HP:0000378	Cupped ear
17	HP:0008734	Decreased testicular size
18	HP:0000286	Epicanthus
19	HP:0000365	Hearing impairment
20	HP:0000218	High palate
21	HP:0000540	Hypermetropia
22	HP:0001347	Hyperreflexia
23	HP:0000047	Hypospadias
24	HP:0001249	Intellectual disability
25	HP:0009473	Joint contracture of the hand
26	HP:0000276	Long face
27	HP:0000400	Macrotia
28	HP:0000272	Malar flattening
29	HP:0000303	Mandibular prognathia
30	HP:0000252	Microcephaly
31	HP:0000347	Micrognathia
32	HP:0000568	Microphthalmia	HP:0040283
33	HP:0000275	Narrow face
34	HP:0001786	Narrow foot
35	HP:0000160	Narrow mouth
36	HP:0001611	Nasal speech
37	HP:0000767	Pectus excavatum
38	HP:0001761	Pes cavus
39	HP:0001741	Phimosis
40	HP:0002033	Poor suck
41	HP:0000411	Protruding ear
42	HP:0000089	Renal hypoplasia	HP:0040283
43	HP:0002650	Scoliosis
44	HP:0001250	Seizure
45	HP:0000322	Short philtrum
46	HP:0004322	Short stature
47	HP:0001696	Situs inversus totalis
48	HP:0008070	Sparse hair
49	HP:0005338	Sparse lateral eyebrow
50	HP:0001257	Spasticity
51	HP:0000486	Strabismus
52	HP:0001636	Tetralogy of Fallot
53	HP:0000219	Thin upper lip vermilion
54	HP:0000325	Triangular face
55	HP:0000582	Upslanted palpebral fissure
56	HP:0001629	Ventricular septal defect
57	HP:0000431	Wide nasal bridge

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_005710.2(PQBP1):c.194A>G (p.Tyr65Cys)	10084	PQBP1	Pathogenic	121917899	RCV000011732;	N	MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242	X	48759221	48759221	NM_005710.2:c.194A>G	NP_005701.1:p.Tyr65Cys	NC_000023.10:g.48759221A>G	OMIM Allelic Variant:300463.0007	C0796135 309500 Renpenning syndrome 1
NM_001032383.1(PQBP1):c.334_354del21 (p.Gly113_Arg119del)	10084	PQBP1	Benign;Pathogenic	606231198	RCV000011731; RCV000153765;	N	MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242; MedGen:CN169374	X	48759551	48759571	NM_001032383.1:c.334_354del21	NP_001027555.1:p.Gly113_Arg119del	NC_000023.10:g.48759551_48759571del21	OMIM Allelic Variant:300463.0006	CN169374 not specified; C0796135 309500 Renpenning syndrome 1
NM_001032383.1(PQBP1):c.459_462delAGAG (p.Arg153Serfs)	10084	PQBP1	Pathogenic	606231194	RCV000011727;	N	MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242	X	48759676	48759679	NM_001032383.1:c.459_462delAGAG	NP_001027555.1:p.Arg153Serfs	NC_000023.10:g.48759676_48759679delAGAG	OMIM Allelic Variant:300463.0002	C0796135 309500 Renpenning syndrome 1
NM_001032383.1(PQBP1):c.461_462dupAG (p.Arg155Serfs)	10084	PQBP1	Pathogenic	606231193	RCV000011726;	N	MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242	X	48759678	48759679	NM_001032383.1:c.461_462dupAG	NP_001027555.1:p.Arg155Serfs	NC_000023.10:g.48759678_48759679dupAG	OMIM Allelic Variant:300463.0001	C0796135 309500 Renpenning syndrome 1
NM_001032383.1(PQBP1):c.461_462delAG (p.Glu154Alafs)	10084	PQBP1	Pathogenic	606231195	RCV000011728;	N	MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242	X	48759678	48759679	NM_001032383.1:c.461_462delAG	NP_001027555.1:p.Glu154Alafs	NC_000023.10:g.48759678_48759679delAG	OMIM Allelic Variant:300463.0003	C0796135 309500 Renpenning syndrome 1
NM_001032383.1(PQBP1):c.547_569del23 (p.Glu183Glnfs)	10084	PQBP1	Pathogenic	606231197	RCV000011730;	N	MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242	X	48759764	48759786	NM_001032383.1:c.547_569del23	NP_001027555.1:p.Glu183Glnfs	NC_000023.10:g.48759764_48759786del23	OMIM Allelic Variant:300463.0005	C0796135 309500 Renpenning syndrome 1
NM_005710.2(PQBP1):c.640dupC (p.Arg214Profs)	10084	PQBP1	Pathogenic	606231196	RCV000011729;	N	MedGen:C0796135,OMIM:309500, Orphanet:ORPHA3242	X	48760071	48760071	NM_005710.2:c.640dupC	NP_005701.1:p.Arg214Profs	NC_000023.10:g.48760071dupC	OMIM Allelic Variant:300463.0004	C0796135 309500 Renpenning syndrome 1