MCID: RNP001
MIFTS: 48

Renpenning Syndrome malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases

Aliases & Classifications for Renpenning Syndrome

About this section

Aliases & Descriptions for Renpenning Syndrome:

Name: Renpenning Syndrome 51 11 25 53 12 13
Renpenning Syndrome 1 51 47 24 69 26 67
Sutherland-Haan X-Linked Mental Retardation Syndrome 11 47 24 69
Golabi-Ito-Hall Syndrome 11 25 69
Mrxs8 47 24 69
Mrxs3 47 24 69
X-Linked Intellectual Disability Due to Pqbp1 Mutations 11 53
X-Linked Intellectual Disability, Renpenning Type 11 53
X-Linked Mental Retardation with Spastic Diplegia 11 47
Sutherland-Haan Syndrome 47 25
Mrx55 24 69
Rens1 47 69
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 25
Mental Retardation, X-Linked, with Spastic Diplegia 24
Mental Retardation X-Linked with Spastic Diplegia 69
X-Linked Intellectual Deficit, Renpenning Type 25
Mental Retardation, X-Linked, Renpenning Type 24
Mental Retardation, X-Linked Renpenning Type 47
 
Mental Retardation X-Linked Renpenning Type 69
X-Linked Mental Retardation Renpenning Type 11
Pqbp1-Related Syndromic Mental Retardation 24
Pqbp1-Related X-Linked Mental Retardation 24
Mental Retardation, X-Linked, Syndromic 8 47
X-Linked Syndromic Mental Retardation 55 24
X-Linked Syndromic Mental Retardation 8 24
Mental Retardation X-Linked Syndromic 3 69
Syndromic X-Linked Mental Retardation 8 11
X-Linked Syndromic Mental Retardation 3 24
Mental Retardation X-Linked Syndromic 8 69
X-Linked Mental Retardation Syndromic 3 47
Hamel Cerebro-Palato-Cardiac Syndrome 53
Hamel Cerebropalatocardiac Syndrome 25
Mental Retardation X-Linked 55 69
Porteous Syndrome 25
Shs 69

Characteristics:

Orphanet epidemiological data:

53
renpenning syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
hamel cerebro-palato-cardiac syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

63
renpenning syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM51 309500
Disease Ontology11 DOID:0060179
ICD1029 Q87.5
ICD10 via Orphanet30 Q87.5
MedGen36 C0796135
MeSH38 D038901

Summaries for Renpenning Syndrome

About this section
Genetics Home Reference:25 Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella); a shortened space between the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder.

MalaCards based summary: Renpenning Syndrome, also known as renpenning syndrome 1, is related to arthrogryposis, distal, type 2b and neuroblastoma, and has symptoms including microcephaly, skeletal muscle atrophy and short stature. An important gene associated with Renpenning Syndrome is PQBP1 (Polyglutamine Binding Protein 1). Affiliated tissues include testes, eye and skeletal muscle.

Disease Ontology:11 An intellectual disability that is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit which follows X-linked inheritance and presents most often in males.

NIH Rare Diseases:47 Renpenning syndrome is a genetic condition which occurs mostly in males. Signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. Approximately two-thirds of individuals with Renpenning syndrome have moderate to severe intellectual disability. Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities. Renpenning syndrome is caused by mutations in the PQBP1 gene and is inherited in an X-linked recessive manner. Management involves early intervention by trained therapists along with treatment of any associated features. Last updated: 2/3/2016

OMIM:51 Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected... (309500) more...

UniProtKB/Swiss-Prot:69 Renpenning syndrome 1: A X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies.

Related Diseases for Renpenning Syndrome

About this section

Graphical network of the top 20 diseases related to Renpenning Syndrome:



Diseases related to renpenning syndrome

Symptoms for Renpenning Syndrome

About this section

Symptoms by clinical synopsis from OMIM:

309500

Clinical features from OMIM:

309500

Human phenotypes related to Renpenning Syndrome:

 63 53 (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly63 53 hallmark (90%) Very frequent (99-80%) HP:0000252
2 skeletal muscle atrophy63 hallmark (90%) HP:0003202
3 short stature63 53 hallmark (90%) Very frequent (99-80%) HP:0004322
4 decreased body weight63 hallmark (90%) HP:0004325
5 cognitive impairment63 hallmark (90%) HP:0100543
6 narrow mouth63 53 hallmark (90%) Very frequent (99-80%) HP:0000160
7 cleft palate63 53 hallmark (90%) Very frequent (99-80%) HP:0000175
8 micrognathia63 53 hallmark (90%) Very frequent (99-80%) HP:0000347
9 atria septal defect63 hallmark (90%) HP:0001631
10 abnormal nasal morphology63 hallmark (90%) HP:0005105
11 external ear malformation63 hallmark (90%) HP:0008572
12 abnormality of the testis63 typical (50%) HP:0000035
13 narrow face63 typical (50%) HP:0000275
14 long face63 typical (50%) HP:0000276
15 epicanthus63 typical (50%) HP:0000286
16 mandibular prognathia63 typical (50%) HP:0000303
17 short philtrum63 typical (50%) HP:0000322
18 triangular face63 typical (50%) HP:0000325
19 macrotia63 typical (50%) HP:0000400
20 upslanted palpebral fissure63 typical (50%) HP:0000582
21 sprengel anomaly63 typical (50%) HP:0000912
22 hypertonia63 typical (50%) HP:0001276
23 abnormality of calvarial morphology63 typical (50%) HP:0002648
24 hypoplasia of the zygomatic bone63 typical (50%) HP:0010669
25 abnormal hair quantity63 typical (50%) HP:0011362
26 round ear63 typical (50%) HP:0100830
27 aplasia/hypoplasia of the eyebrow63 typical (50%) HP:0100840
28 sensorineural hearing impairment63 occasional (7.5%) HP:0000407
29 strabismus63 occasional (7.5%) HP:0000486
30 cataract63 occasional (7.5%) HP:0000518
31 hypermetropia63 occasional (7.5%) HP:0000540
32 iris coloboma63 occasional (7.5%) HP:0000612
33 pectus excavatum63 occasional (7.5%) HP:0000767
34 diabetes mellitus63 occasional (7.5%) HP:0000819
35 abnormality of the thumb63 occasional (7.5%) HP:0001172
36 seizures63 occasional (7.5%) HP:0001250
37 limitation of joint mobility63 occasional (7.5%) HP:0001376
38 macrodontia63 occasional (7.5%) HP:0001572
39 abdominal situs inversus63 occasional (7.5%) HP:0003363
40 clinodactyly of the 5th finger63 occasional (7.5%) HP:0004209
41 abnormality of hair texture63 occasional (7.5%) HP:0010719
42 broad columella63 occasional (7.5%) HP:0010761
43 urogenital fistula63 occasional (7.5%) HP:0100589
44 displacement of the external urethral meatus63 occasional (7.5%) HP:0100627
45 renal hypoplasia63 rare (5%) HP:0000089
46 microphthalmia63 rare (5%) HP:0000568
47 hypospadias63 HP:0000047
48 high palate63 HP:0000218
49 thin upper lip vermilion63 HP:0000219
50 brachycephaly63 HP:0000248
51 malar flattening63 53 Very frequent (99-80%) HP:0000272
52 hearing impairment63 HP:0000365
53 cupped ear63 53 Very frequent (99-80%) HP:0000378
54 protruding ear63 HP:0000411
55 bulbous nose63 53 Very frequent (99-80%) HP:0000414
56 wide nasal bridge63 53 Very frequent (99-80%) HP:0000431
57 coloboma63 HP:0000589
58 blindness63 HP:0000618
59 anxiety63 HP:0000739
60 intellectual disability63 53 Very frequent (99-80%) HP:0001249
61 spasticity63 HP:0001257
62 hyperreflexia63 HP:0001347
63 abnormality of the rib cage63 HP:0001547
64 nasal speech63 HP:0001611
65 ventricular septal defect63 HP:0001629
66 tetralogy of fallot63 HP:0001636
67 situs inversus totalis63 HP:0001696
68 phimosis63 HP:0001741
69 pes cavus63 HP:0001761
70 narrow foot63 HP:0001786
71 anal atresia63 HP:0002023
72 poor suck63 HP:0002033
73 cerebral atrophy63 HP:0002059
74 scoliosis63 HP:0002650
75 sparse lateral eyebrow63 HP:0005338
76 sparse hair63 HP:0008070
77 decreased testicular size63 HP:0008734
78 joint contracture of the hand63 HP:0009473
79 camptodactyly63 HP:0012385
80 arachnodactyly53 Very frequent (99-80%)
81 global developmental delay53 Very frequent (99-80%)
82 death in infancy53 Very frequent (99-80%)
83 defect in the atrial septum53 Very frequent (99-80%)

UMLS symptoms related to Renpenning Syndrome:


muscle spasticity

Drugs & Therapeutics for Renpenning Syndrome

About this section

Drugs for Renpenning Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 13)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RibavirinapprovedPhase 398436791-04-537542
Synonyms:
1-.beta.-D-Ribofuranosyl-1,2,4-triazolo-3-carboxamide
1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,2,4-triazole-3-carboxamide
1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1H-1,2,4-triazole-3-carboxamide
1-beta-D-Ribofuranosyl-1,2,4-triazole-3-carboxamide
1-beta-D-Ribofuranosyl-1H-1,2,4-triazole-3-carboxamide
1-beta-D-ribofuranosyl-1-H-1,2,4-triazole-3-carboxamide
36791-04-5
437710-49-1
66510-90-5
AA-504/07617051
AB00430481
AC1L1XXZ
AC1Q1IDC
AC1Q4ZGS
AKOS001715163
BB_NC-0567
BPBio1_001195
BRN 0892462
BSPBio_001085
BSPBio_003352
C-Virin
CHEMBL1643
CID37542
Copegus
Copegus (TN)
Cotronak
D00423
DB00811
DRG-0028
DivK1c_000782
Drug: Ribavirin
EU-0101063
FT-0082885
HMS2090L15
HMS2094O09
HMS502H04
HSDB 6513
ICN-1229
IDI1_000782
KBio1_000782
KBio2_002328
KBio2_004896
KBio2_007464
KBio3_002854
KBioGR_001804
KBioSS_002331
KS-1104
LS-1241
Lopac0_001063
MLS000028486
MLS002222317
MolPort-002-507-104
MolPort-002-885-856
NCGC00090726-01
NCGC00090726-03
NCGC00090726-04
NCGC00090726-05
NCGC00090726-06
NCGC00090726-07
NINDS_000782
NSC 163039
 
NSC163039
Prestwick3_000993
R 9644
R-964
R9644_SIGMA
RBV
RG-964
RIBAV
RTC
RTCA
RTP
Ravanex
Rebetol
Rebetol (TN)
Rebetron
Rebretron
Ribacine
Ribamide
Ribamidil
Ribamidyl
Ribasphere
Ribasphere (TN)
Ribav
Ribavirin
Ribavirin (JAN/USP/INN)
Ribavirin Capsules
Ribavirin Triphosphate
Ribavirin [USAN:INN]
Ribavirin-TP
Ribavirina
Ribavirina [INN-Spanish]
Ribavirine
Ribavirine [INN-French]
Ribavirinum
Ribavirinum [INN-Latin]
Ribovirin
Ro 20-9963/000
Ro-20-9963
S2504_Selleck
SCH 18908
SMP1_000261
SMR000058315
SPECTRUM1503938
SR-01000076112-3
Spectrum3_001876
Spectrum4_001252
Spectrum5_002075
Spectrum_001826
Tribavirin
UNII-49717AWG6K
Varazid
Vilona
Viramid
Viramide
Virazid
Virazide
Virazole
Virazole (Ribavirin) Inhalation Solution
Virazole (TN)
Virazole 5'-triphosphate
ZINC01035331
ribavirin
2
IodinePhase 35467553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
3MicronutrientsPhase 35802
4Anti-Infective AgentsPhase 321402
5Trace ElementsPhase 35802
6interferonsPhase 32137
7Anti-Infective Agents, LocalPhase 31785
8Interferon-alphaPhase 31139
9AntimetabolitesPhase 311774
10Antiviral AgentsPhase 39732
11cadexomer iodinePhase 3514
12Neuroserpin3
13AstragalusNutraceutical52

Interventional clinical trials:

idNameStatusNCT IDPhase
1To Study the Efficacy and Safety of Renessans in Chronic HCV PatientsUnknown statusNCT01463592Phase 3
2Genetic Disease Gene IdentificationUnknown statusNCT00916903

Search NIH Clinical Center for Renpenning Syndrome

Genetic Tests for Renpenning Syndrome

About this section

Genetic tests related to Renpenning Syndrome:

id Genetic test Affiliating Genes
1 Renpenning Syndrome 126 24 PQBP1

Anatomical Context for Renpenning Syndrome

About this section

MalaCards organs/tissues related to Renpenning Syndrome:

35
Testes, Eye, Skeletal muscle, Heart, Bone, Testis

Animal Models for Renpenning Syndrome or affiliated genes

About this section

Publications for Renpenning Syndrome

About this section

Articles related to Renpenning Syndrome:

idTitleAuthorsYear
1
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction. (28073926)
2017
2
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. (20950397)
2011
3
Renpenning syndrome comes into focus. (15782410)
2005
4
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. (15024694)
2004
5
Renpenning syndrome maps to Xp11. (9545405)
1998
6
X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families). (3437266)
1987
7
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. (7328617)
1981
8
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). (6938131)
1980
9
Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome). (7188916)
1980

Variations for Renpenning Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Renpenning Syndrome:

69
id Symbol AA change Variation ID SNP ID
1PQBP1p.Tyr65CysVAR_071063rs121917899

Clinvar genetic disease variations for Renpenning Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PQBP1NM_001032383.1(PQBP1): c.461_462dupAG (p.Arg155Serfs)duplicationPathogenicrs606231193GRCh38Chr X, 48902401: 48902402
2PQBP1NM_005710.2(PQBP1): c.459_462delAGAG (p.Arg153Serfs)deletionPathogenicrs606231194GRCh38Chr X, 48902399: 48902402
3PQBP1NM_001032383.1(PQBP1): c.461_462delAG (p.Glu154Alafs)deletionPathogenicrs606231195GRCh38Chr X, 48902401: 48902402
4PQBP1NM_005710.2(PQBP1): c.640dupC (p.Arg214Profs)duplicationPathogenicrs606231196GRCh38Chr X, 48902794: 48902794
5PQBP1NM_001032383.1(PQBP1): c.547_569del23 (p.Glu183Glnfs)deletionPathogenicrs606231197GRCh38Chr X, 48902487: 48902509
6PQBP1NM_001032383.1(PQBP1): c.334_354del21 (p.Gly113_Arg119del)deletionPathogenicrs606231198GRCh38Chr X, 48902274: 48902294
7PQBP1NM_005710.2(PQBP1): c.194A> G (p.Tyr65Cys)SNVPathogenicrs121917899GRCh37Chr X, 48759221: 48759221
8PQBP1NM_005710.2(PQBP1): c.450_453delCAGA (p.Asp150Glufs)deletionPathogenicrs886044823GRCh37Chr X, 48759667: 48759670

Expression for genes affiliated with Renpenning Syndrome

About this section
Search GEO for disease gene expression data for Renpenning Syndrome.

Pathways for genes affiliated with Renpenning Syndrome

About this section

GO Terms for genes affiliated with Renpenning Syndrome

About this section

Cellular components related to Renpenning Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:00007929.8ATRX, MECP2

Biological processes related to Renpenning Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1neuron projection developmentGO:00311759.6MECP2, PQBP1, STMN1

Molecular functions related to Renpenning Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1ionotropic glutamate receptor bindingGO:003525510.0DLG3, OPHN1

Sources for Renpenning Syndrome

About this section
2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet