RENS1
MCID: RNP001
MIFTS: 47

Renpenning Syndrome (RENS1) malady

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

Aliases & Classifications for Renpenning Syndrome

Aliases & Descriptions for Renpenning Syndrome:

Name: Renpenning Syndrome 54 12 25 56 13 14
Renpenning Syndrome 1 54 50 24 66 29 69
Sutherland-Haan X-Linked Mental Retardation Syndrome 12 50 24 66
Golabi-Ito-Hall Syndrome 12 25 66
Mrxs3 50 24 66
Mrxs8 50 24 66
X-Linked Intellectual Disability Due to Pqbp1 Mutations 12 56
X-Linked Intellectual Disability, Renpenning Type 12 56
X-Linked Mental Retardation with Spastic Diplegia 12 50
Sutherland-Haan Syndrome 50 25
Rens1 50 66
Mrx55 24 66
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 25
Mental Retardation, X-Linked, with Spastic Diplegia 24
Mental Retardation X-Linked with Spastic Diplegia 66
X-Linked Intellectual Deficit, Renpenning Type 25
Mental Retardation, X-Linked, Renpenning Type 24
Mental Retardation, X-Linked Renpenning Type 50
X-Linked Mental Retardation Renpenning Type 12
Mental Retardation X-Linked Renpenning Type 66
Pqbp1-Related Syndromic Mental Retardation 24
Mental Retardation, X-Linked, Syndromic 8 50
Pqbp1-Related X-Linked Mental Retardation 24
X-Linked Syndromic Mental Retardation 55 24
Syndromic X-Linked Mental Retardation 8 12
X-Linked Mental Retardation Syndromic 3 50
X-Linked Syndromic Mental Retardation 3 24
X-Linked Syndromic Mental Retardation 8 24
Mental Retardation X-Linked Syndromic 3 66
Mental Retardation X-Linked Syndromic 8 66
Hamel Cerebro-Palato-Cardiac Syndrome 56
Hamel Cerebropalatocardiac Syndrome 25
Mental Retardation X-Linked 55 66
Porteous Syndrome 25
Shs 66

Characteristics:

Orphanet epidemiological data:

56
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:

32
renpenning syndrome:
Mortality/Aging death in infancy
Inheritance x-linked recessive inheritance


Classifications:



External Ids:

OMIM 54 309500
Disease Ontology 12 DOID:0060179
ICD10 33 Q87.5
ICD10 via Orphanet 34 Q87.5
MedGen 40 C0796135
MeSH 42 D038901

Summaries for Renpenning Syndrome

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 malar flattening, intellectual disability and global developmental delay. An important gene associated with Renpenning Syndrome is PQBP1 (Polyglutamine Binding Protein 1). The drugs Ribavirin and Iodine have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and heart.

NIH Rare Diseases : 50 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

UniProtKB/Swiss-Prot : 66 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.

OMIM : 54 Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected... (309500) more...

Disease Ontology : 12 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.

Related Diseases for Renpenning Syndrome

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



Diseases related to Renpenning Syndrome

Symptoms & Phenotypes for Renpenning Syndrome

Symptoms by clinical synopsis from OMIM:

309500

Clinical features from OMIM:

309500

Human phenotypes related to Renpenning Syndrome:

56 32 (show top 50) (show all 59)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 56 32 Very frequent (99-80%) HP:0000272
2 intellectual disability 56 32 Very frequent (99-80%) HP:0001249
3 global developmental delay 56 32 Very frequent (99-80%) HP:0001263
4 wide nasal bridge 56 32 Very frequent (99-80%) HP:0000431
5 microcephaly 56 32 Very frequent (99-80%) HP:0000252
6 short stature 56 32 Very frequent (99-80%) HP:0004322
7 cleft palate 56 32 Very frequent (99-80%) HP:0000175
8 micrognathia 56 32 Very frequent (99-80%) HP:0000347
9 arachnodactyly 56 32 Very frequent (99-80%) HP:0001166
10 narrow mouth 56 32 Very frequent (99-80%) HP:0000160
11 bulbous nose 56 32 Very frequent (99-80%) HP:0000414
12 cupped ear 56 32 Very frequent (99-80%) HP:0000378
13 seizures 32 HP:0001250
14 pectus excavatum 32 HP:0000767
15 high palate 32 HP:0000218
16 spasticity 32 HP:0001257
17 hyperreflexia 32 HP:0001347
18 scoliosis 32 HP:0002650
19 mandibular prognathia 32 HP:0000303
20 hearing impairment 32 HP:0000365
21 macrotia 32 HP:0000400
22 cataract 32 HP:0000518
23 blindness 32 HP:0000618
24 brachycephaly 32 HP:0000248
25 strabismus 32 HP:0000486
26 death in infancy 56 Very frequent (99-80%)
27 epicanthus 32 HP:0000286
28 anxiety 32 HP:0000739
29 atria septal defect 56 Very frequent (99-80%)
30 pes cavus 32 HP:0001761
31 protruding ear 32 HP:0000411
32 short philtrum 32 HP:0000322
33 microphthalmia 32 HP:0000568
34 hypospadias 32 HP:0000047
35 clinodactyly of the 5th finger 32 HP:0004209
36 decreased testicular size 32 HP:0008734
37 narrow foot 32 HP:0001786
38 narrow face 32 HP:0000275
39 upslanted palpebral fissure 32 HP:0000582
40 anal atresia 32 HP:0002023
41 tetralogy of fallot 32 HP:0001636
42 renal hypoplasia 32 HP:0000089
43 long face 32 HP:0000276
44 nasal speech 32 HP:0001611
45 ventricular septal defect 32 HP:0001629
46 thin upper lip vermilion 32 HP:0000219
47 triangular face 32 HP:0000325
48 sparse lateral eyebrow 32 HP:0005338
49 sparse hair 32 HP:0008070
50 situs inversus totalis 32 HP:0001696

UMLS symptoms related to Renpenning Syndrome:


muscle spasticity

Drugs & Therapeutics for Renpenning Syndrome

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

(show all 13)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ribavirin Approved Phase 3 36791-04-5 37542
2
Iodine Phase 3 7553-56-2 807
3 cadexomer iodine Phase 3
4 interferons Phase 3
5 Trace Elements Phase 3
6 Anti-Infective Agents Phase 3
7 Anti-Infective Agents, Local Phase 3
8 Interferon-alpha Phase 3
9 Antimetabolites Phase 3
10 Micronutrients Phase 3
11 Antiviral Agents Phase 3
12 Neuroserpin
13 Astragalus Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 To Study the Efficacy and Safety of Renessans in Chronic HCV Patients Unknown status NCT01463592 Phase 3
2 Genetic Disease Gene Identification Unknown status NCT00916903

Search NIH Clinical Center for Renpenning Syndrome

Genetic Tests for Renpenning Syndrome

Genetic tests related to Renpenning Syndrome:

id Genetic test Affiliating Genes
1 Renpenning Syndrome 1 29 24 PQBP1

Anatomical Context for Renpenning Syndrome

MalaCards organs/tissues related to Renpenning Syndrome:

39
Testes, Eye, Heart, Skeletal Muscle

Publications for Renpenning Syndrome

Articles related to Renpenning Syndrome:

id Title Authors Year
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

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

66
id Symbol AA change Variation ID SNP ID
1 PQBP1 p.Tyr65Cys VAR_071063 rs121917899

ClinVar genetic disease variations for Renpenning Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 PQBP1 NM_001032383.1(PQBP1): c.461_462dupAG (p.Arg155Serfs) duplication Pathogenic rs606231193 GRCh38 Chromosome X, 48902401: 48902402
2 PQBP1 NM_005710.2(PQBP1): c.459_462delAGAG (p.Arg153Serfs) deletion Pathogenic rs606231194 GRCh38 Chromosome X, 48902399: 48902402
3 PQBP1 NM_001032383.1(PQBP1): c.461_462delAG (p.Glu154Alafs) deletion Pathogenic rs606231195 GRCh38 Chromosome X, 48902401: 48902402
4 PQBP1 NM_005710.2(PQBP1): c.640dupC (p.Arg214Profs) duplication Pathogenic rs606231196 GRCh38 Chromosome X, 48902794: 48902794
5 PQBP1 NM_001032383.1(PQBP1): c.547_569del23 (p.Glu183Glnfs) deletion Pathogenic rs606231197 GRCh38 Chromosome X, 48902487: 48902509
6 PQBP1 NM_005710.2(PQBP1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs121917899 GRCh37 Chromosome X, 48759221: 48759221
7 PQBP1 NM_005710.2(PQBP1): c.450_453delCAGA (p.Asp150Glufs) deletion Pathogenic rs886044823 GRCh37 Chromosome X, 48759667: 48759670

Expression for Renpenning Syndrome

Search GEO for disease gene expression data for Renpenning Syndrome.

Pathways for Renpenning Syndrome

GO Terms for Renpenning Syndrome

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

id Name GO ID Score Top Affiliating Genes
1 heterochromatin GO:0000792 8.62 ATRX MECP2

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

id Name GO ID Score Top Affiliating Genes
1 mitotic spindle organization GO:0007052 8.96 MECP2 STMN1
2 neuron projection development GO:0031175 8.8 MECP2 PQBP1 STMN1

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

id Name GO ID Score Top Affiliating Genes
1 ionotropic glutamate receptor binding GO:0035255 8.62 DLG3 OPHN1

Sources for Renpenning Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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