MCID: RNP001
MIFTS: 48

Renpenning Syndrome malady

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

Aliases & Classifications for Renpenning Syndrome

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Aliases & Descriptions for Renpenning Syndrome:

Name: Renpenning Syndrome 52 11 25 54 12 13
Renpenning Syndrome 1 52 48 24 70 27 68
Sutherland-Haan X-Linked Mental Retardation Syndrome 11 48 24 70
Golabi-Ito-Hall Syndrome 11 25 70
Mrxs8 48 24 70
Mrxs3 48 24 70
X-Linked Intellectual Disability Due to Pqbp1 Mutations 11 54
X-Linked Intellectual Disability, Renpenning Type 11 54
X-Linked Mental Retardation with Spastic Diplegia 11 48
Sutherland-Haan Syndrome 48 25
Mrx55 24 70
Rens1 48 70
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 25
Mental Retardation, X-Linked, with Spastic Diplegia 24
Mental Retardation X-Linked with Spastic Diplegia 70
X-Linked Intellectual Deficit, Renpenning Type 25
Mental Retardation, X-Linked, Renpenning Type 24
Mental Retardation, X-Linked Renpenning Type 48
 
Mental Retardation X-Linked Renpenning Type 70
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 48
X-Linked Syndromic Mental Retardation 55 24
X-Linked Syndromic Mental Retardation 8 24
Mental Retardation X-Linked Syndromic 3 70
Syndromic X-Linked Mental Retardation 8 11
X-Linked Syndromic Mental Retardation 3 24
Mental Retardation X-Linked Syndromic 8 70
X-Linked Mental Retardation Syndromic 3 48
Hamel Cerebro-Palato-Cardiac Syndrome 54
Hamel Cerebropalatocardiac Syndrome 25
Mental Retardation X-Linked 55 70
Porteous Syndrome 25
Shs 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
renpenning syndrome:
Inheritance: x-linked recessive inheritance

Classifications:



External Ids:

OMIM52 309500
Disease Ontology11 DOID:0060179
ICD1030 Q87.5
ICD10 via Orphanet31 Q87.5
MedGen37 C0796135
MeSH39 D038901

Summaries for Renpenning Syndrome

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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:48 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:52 Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected... (309500) more...

UniProtKB/Swiss-Prot:70 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

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



Diseases related to renpenning syndrome

Symptoms & Phenotypes for Renpenning Syndrome

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Symptoms by clinical synopsis from OMIM:

309500

Clinical features from OMIM:

309500

Human phenotypes related to Renpenning Syndrome:

 64 54 (show all 83)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly64 54 hallmark (90%) Very frequent (99-80%) HP:0000252
2 skeletal muscle atrophy64 hallmark (90%) HP:0003202
3 short stature64 54 hallmark (90%) Very frequent (99-80%) HP:0004322
4 decreased body weight64 hallmark (90%) HP:0004325
5 cognitive impairment64 hallmark (90%) HP:0100543
6 narrow mouth64 54 hallmark (90%) Very frequent (99-80%) HP:0000160
7 cleft palate64 54 hallmark (90%) Very frequent (99-80%) HP:0000175
8 micrognathia64 54 hallmark (90%) Very frequent (99-80%) HP:0000347
9 atria septal defect64 hallmark (90%) HP:0001631
10 abnormal nasal morphology64 hallmark (90%) HP:0005105
11 external ear malformation64 hallmark (90%) HP:0008572
12 abnormality of the testis64 typical (50%) HP:0000035
13 narrow face64 typical (50%) HP:0000275
14 long face64 typical (50%) HP:0000276
15 epicanthus64 typical (50%) HP:0000286
16 mandibular prognathia64 typical (50%) HP:0000303
17 short philtrum64 typical (50%) HP:0000322
18 triangular face64 typical (50%) HP:0000325
19 macrotia64 typical (50%) HP:0000400
20 upslanted palpebral fissure64 typical (50%) HP:0000582
21 sprengel anomaly64 typical (50%) HP:0000912
22 hypertonia64 typical (50%) HP:0001276
23 abnormality of calvarial morphology64 typical (50%) HP:0002648
24 hypoplasia of the zygomatic bone64 typical (50%) HP:0010669
25 abnormal hair quantity64 typical (50%) HP:0011362
26 round ear64 typical (50%) HP:0100830
27 aplasia/hypoplasia of the eyebrow64 typical (50%) HP:0100840
28 sensorineural hearing impairment64 occasional (7.5%) HP:0000407
29 strabismus64 occasional (7.5%) HP:0000486
30 cataract64 occasional (7.5%) HP:0000518
31 hypermetropia64 occasional (7.5%) HP:0000540
32 iris coloboma64 occasional (7.5%) HP:0000612
33 pectus excavatum64 occasional (7.5%) HP:0000767
34 diabetes mellitus64 occasional (7.5%) HP:0000819
35 abnormality of the thumb64 occasional (7.5%) HP:0001172
36 seizures64 occasional (7.5%) HP:0001250
37 limitation of joint mobility64 occasional (7.5%) HP:0001376
38 macrodontia64 occasional (7.5%) HP:0001572
39 abdominal situs inversus64 occasional (7.5%) HP:0003363
40 clinodactyly of the 5th finger64 occasional (7.5%) HP:0004209
41 abnormality of hair texture64 occasional (7.5%) HP:0010719
42 broad columella64 occasional (7.5%) HP:0010761
43 urogenital fistula64 occasional (7.5%) HP:0100589
44 displacement of the external urethral meatus64 occasional (7.5%) HP:0100627
45 renal hypoplasia64 rare (5%) HP:0000089
46 microphthalmia64 rare (5%) HP:0000568
47 hypospadias64 HP:0000047
48 high palate64 HP:0000218
49 thin upper lip vermilion64 HP:0000219
50 brachycephaly64 HP:0000248
51 malar flattening64 54 Very frequent (99-80%) HP:0000272
52 hearing impairment64 HP:0000365
53 cupped ear64 54 Very frequent (99-80%) HP:0000378
54 protruding ear64 HP:0000411
55 bulbous nose64 54 Very frequent (99-80%) HP:0000414
56 wide nasal bridge64 54 Very frequent (99-80%) HP:0000431
57 coloboma64 HP:0000589
58 blindness64 HP:0000618
59 anxiety64 HP:0000739
60 intellectual disability64 54 Very frequent (99-80%) HP:0001249
61 spasticity64 HP:0001257
62 hyperreflexia64 HP:0001347
63 abnormality of the rib cage64 HP:0001547
64 nasal speech64 HP:0001611
65 ventricular septal defect64 HP:0001629
66 tetralogy of fallot64 HP:0001636
67 situs inversus totalis64 HP:0001696
68 phimosis64 HP:0001741
69 pes cavus64 HP:0001761
70 narrow foot64 HP:0001786
71 anal atresia64 HP:0002023
72 poor suck64 HP:0002033
73 cerebral atrophy64 HP:0002059
74 scoliosis64 HP:0002650
75 sparse lateral eyebrow64 HP:0005338
76 sparse hair64 HP:0008070
77 decreased testicular size64 HP:0008734
78 joint contracture of the hand64 HP:0009473
79 camptodactyly64 HP:0012385
80 arachnodactyly54 Very frequent (99-80%)
81 global developmental delay54 Very frequent (99-80%)
82 death in infancy54 Very frequent (99-80%)
83 defect in the atrial septum54 Very frequent (99-80%)

UMLS symptoms related to Renpenning Syndrome:


muscle spasticity

Drugs & Therapeutics for Renpenning Syndrome

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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

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Genetic tests related to Renpenning Syndrome:

id Genetic test Affiliating Genes
1 Renpenning Syndrome 127 24 PQBP1

Anatomical Context for Renpenning Syndrome

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MalaCards organs/tissues related to Renpenning Syndrome:

36
Testes, Eye, Skeletal muscle, Heart, Bone, Testis

Publications for Renpenning Syndrome

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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

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

70
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

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Search GEO for disease gene expression data for Renpenning Syndrome.

Pathways for genes affiliated with Renpenning Syndrome

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GO Terms for genes affiliated with Renpenning Syndrome

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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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet