RENS1
MCID: RNP003
MIFTS: 48

Renpenning Syndrome 1 (RENS1)

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

Aliases & Classifications for Renpenning Syndrome 1

MalaCards integrated aliases for Renpenning Syndrome 1:

Name: Renpenning Syndrome 1 57 72 29 6 70
Renpenning Syndrome 57 12 20 43 58 36 13 15
Golabi-Ito-Hall Syndrome 57 12 43 72
X-Linked Intellectual Disability Due to Pqbp1 Mutations 12 20 58
Sutherland-Haan X-Linked Mental Retardation Syndrome 57 12 72
Mrxs3 57 20 72
Mrxs8 57 20 72
X-Linked Intellectual Disability, Renpenning Type 12 58
Sutherland-Haan Syndrome 20 43
Rens1 57 72
Mrx55 57 72
Shs 57 72
Sutherland-Haan X-Linked Mental Retardation Syndrome; Shs 57
Sutherland-Haan X-Linked Intellectual Disability Syndrome 20
X-Linked Intellectual Disability with Spastic Diplegia 20
X-Linked Intellectual Disability, Sutherland-Haan Type 58
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 43
Mental Retardation, X-Linked, with Spastic Diplegia 57
X-Linked Mental Retardation with Spastic Diplegia 12
Mental Retardation X-Linked with Spastic Diplegia 72
Mental Retardation, X-Linked, Syndromic 3; Mrxs3 57
Mental Retardation, X-Linked, Syndromic 8; Mrxs8 57
X-Linked Intellectual Deficit, Renpenning Type 43
Mental Retardation, X-Linked, Renpenning Type 57
X-Linked Mental Retardation Renpenning Type 12
Mental Retardation X-Linked Renpenning Type 72
Mental Retardation, X-Linked, Syndromic 3 57
Mental Retardation, X-Linked, Syndromic 8 57
Syndromic X-Linked Mental Retardation 8 12
Mental Retardation X-Linked Syndromic 3 72
Mental Retardation X-Linked Syndromic 8 72
Mental Retardation, X-Linked 55; Mrx55 57
Hamel Cerebro-Palato-Cardiac Syndrome 58
Hamel Cerebropalatocardiac Syndrome 43
Mental Retardation, X-Linked 55 57
Mental Retardation X-Linked 55 72
Syndrome, Renpenning, Type 1 39
Syndrome, Renpenning 39
Porteous Syndrome 43

Characteristics:

Orphanet epidemiological data:

58
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;

OMIM®:

57 (Updated 05-Apr-2021)
Miscellaneous:
clinical variability
features in typical patient include mental retardation, microcephaly, short stature, and lean body build
skewed x-inactivation in carriers

Inheritance:
x-linked recessive


HPO:

31
renpenning syndrome 1:
Onset and clinical course death in infancy death in childhood
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Renpenning Syndrome 1

MedlinePlus Genetics : 43 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.About 20 percent of individuals with Renpenning syndrome also have other features, which may include a gap or split in structures that make up the eye (coloboma), an opening in the roof of the mouth (cleft palate), heart abnormalities, or malformations of the anus.Certain combinations of the features that often occur in Renpenning syndrome are sometimes called by other names, such as Golabi-Ito-Hall syndrome or Sutherland-Haan syndrome. However, all these syndromes, which have the same genetic cause, are now generally grouped under the term Renpenning syndrome.

MalaCards based summary : Renpenning Syndrome 1, also known as renpenning syndrome, is related to arthrogryposis, distal, type 2b1 and alacrima, achalasia, and mental retardation syndrome, and has symptoms including muscle spasticity An important gene associated with Renpenning Syndrome 1 is PQBP1 (Polyglutamine Binding Protein 1), and among its related pathways/superpathways is Spliceosome. Affiliated tissues include testes, eye and skeletal muscle, and related phenotypes are intellectual disability and global developmental delay

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.

GARD : 20 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.

OMIM® : 57 Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected individuals have microcephaly, short stature, small testes, and dysmorphic facies, including tall narrow face, 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. Stevenson et al. (2005) proposed that the various X-linked mental retardation syndromes due to PQBP1 mutations be combined under the name of Renpenning syndrome. (309500) (Updated 05-Apr-2021)

KEGG : 36 Renpenning syndrome is a group of X-linked mental retardation syndromes, caused by mutations in human polyglutamine-binding protein 1 (PQBP1) gene. It is characterized by intellectual deficiency, microcephaly, short stature, and microrchidia. PQBP1 plays important roles in neurodevelopment and neuronal functions. It is thought to interact with RNA polymerase, transcription factors, and spliceosome proteins, and thus to act as a transcription and splicing regulator.

UniProtKB/Swiss-Prot : 72 Renpenning syndrome 1: An 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 1

Diseases related to Renpenning Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 2b1 11.4
2 alacrima, achalasia, and mental retardation syndrome 10.2
3 microcephaly 10.2
4 heart septal defect 10.2
5 atrial heart septal defect 10.2
6 coloboma of macula 10.1
7 muscular atrophy 10.1
8 polykaryocytosis inducer 10.0
9 ocular motor apraxia 10.0
10 hepatic coma 10.0
11 cleft palate, isolated 9.9
12 fragile x syndrome 9.9
13 scoliosis 9.9
14 microphthalmia 9.9
15 hypogonadism 9.9
16 ankylosis 9.9
17 agammaglobulinemia 9.9
18 progressive muscular atrophy 9.9
19 agnosia 9.9
20 coloboma of iris 9.9
21 penis agenesis 9.9
22 developmental dyspraxia 9.9
23 hypopigmentation of the skin 9.9
24 ige responsiveness, atopic 9.9
25 tobacco addiction 9.9
26 asthma 9.9
27 chudley-mccullough syndrome 9.9
28 pulmonary disease, chronic obstructive 9.9
29 coronary heart disease 1 9.9
30 smoking as a quantitative trait locus 3 9.9
31 peripheral vascular disease 9.9
32 inflammatory bowel disease 9.9
33 allergic disease 9.9
34 sick building syndrome 9.9
35 fibromyalgia 9.9
36 cerebrovascular disease 9.9
37 chronic fatigue syndrome 9.9
38 bronchopulmonary dysplasia 9.9
39 chronic pain 9.9
40 koolen-de vries syndrome 9.8 TBCK PACS1
41 total anomalous pulmonary venous return 1 9.7 GDF1 CRELD1
42 dextro-looped transposition of the great arteries 9.6 NUP188 GDF1 CRELD1
43 heterotaxy 9.6 GDF1 GALNT11
44 primary ciliary dyskinesia 9.1 NUP188 NME8 GDF1 GALNT11 CRELD1

Graphical network of the top 20 diseases related to Renpenning Syndrome 1:



Diseases related to Renpenning Syndrome 1

Symptoms & Phenotypes for Renpenning Syndrome 1

Human phenotypes related to Renpenning Syndrome 1:

58 31 (show top 50) (show all 89)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%) HP:0001263
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 microcephaly 58 31 very rare (1%) Very frequent (99-80%),Very frequent (99-80%),Very frequent (99-80%) HP:0000252
5 short stature 58 31 very rare (1%) Very frequent (99-80%),Frequent (79-30%) HP:0004322
6 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
7 cleft palate 58 31 very rare (1%) Very frequent (99-80%),Occasional (29-5%) HP:0000175
8 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
9 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
10 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
11 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
12 narrow mouth 58 31 very rare (1%) Very frequent (99-80%),Occasional (29-5%) HP:0000160
13 malar flattening 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000272
14 bulbous nose 58 31 very rare (1%) Very frequent (99-80%) HP:0000414
15 cupped ear 58 31 very rare (1%) Very frequent (99-80%) HP:0000378
16 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
17 spasticity 58 31 very rare (1%) Frequent (79-30%) HP:0001257
18 macrotia 58 31 very rare (1%) Frequent (79-30%),Occasional (29-5%) HP:0000400
19 mandibular prognathia 58 31 very rare (1%) Frequent (79-30%),Occasional (29-5%) HP:0000303
20 brachycephaly 58 31 very rare (1%) Frequent (79-30%) HP:0000248
21 intellectual disability, severe 58 31 frequent (33%) Frequent (79-30%) HP:0010864
22 epicanthus 58 31 very rare (1%) Frequent (79-30%) HP:0000286
23 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
24 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
25 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
26 narrow face 58 31 very rare (1%) Frequent (79-30%),Occasional (29-5%) HP:0000275
27 upslanted palpebral fissure 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0000582
28 round ear 58 31 frequent (33%) Frequent (79-30%) HP:0100830
29 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
30 long face 58 31 frequent (33%) Frequent (79-30%),Occasional (29-5%) HP:0000276
31 hypospadias 58 31 very rare (1%) Frequent (79-30%) HP:0000047
32 short philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000322
33 decreased testicular size 58 31 very rare (1%) Frequent (79-30%),Frequent (79-30%) HP:0008734
34 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
35 small for gestational age 58 31 frequent (33%) Frequent (79-30%) HP:0001518
36 thin eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045074
37 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
38 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
39 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
40 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
41 intellectual disability, mild 58 31 occasional (7.5%) Occasional (29-5%) HP:0001256
42 strabismus 58 31 very rare (1%) Occasional (29-5%),Occasional (29-5%) HP:0000486
43 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
44 pectus excavatum 58 31 very rare (1%) Occasional (29-5%) HP:0000767
45 anal atresia 58 31 very rare (1%) Occasional (29-5%),Occasional (29-5%) HP:0002023
46 clinodactyly of the 5th finger 58 31 very rare (1%) Occasional (29-5%) HP:0004209
47 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
48 high hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008499
49 macrodontia 58 31 very rare (1%) Occasional (29-5%) HP:0001572
50 abnormal thumb morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001172

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Neurologic Central Nervous System:
spasticity
hyperreflexia
brain atrophy
mental retardation
seizures (rare)

Head And Neck Eyes:
cataract
strabismus
epicanthus
hypermetropia
upslanting palpebral fissures
more
Growth Height:
short stature

Head And Neck Face:
micrognathia
triangular face
prognathism
malar hypoplasia
long, narrow face (post adolescence)
more
Cardiovascular Heart:
atrial septal defect
tetralogy of fallot
ventricular septal defect
congenital heart defects
situs inversus (rare)

Skeletal Feet:
pes cavus
slender feet

Skeletal Hands:
camptodactyly
clinodactyly of fifth digit (rare)
ankylosis of the thumb metacarpophalangeal joint

Head And Neck Ears:
dysplastic ears
large ears
protruding ears
cupped ears
hearing loss (rare)

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum (rare)

Respiratory Nasopharynx:
velar dysfunction

Genitourinary Kidneys:
renal hypoplasia (rare)
renal malposition (rare)

Skeletal Spine:
scoliosis
terminal spine defects

Head And Neck Head:
microcephaly
brachycephaly

Head And Neck Mouth:
cleft palate
thin upper lip
high-arched palate
small mouth (rare)

Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features

Head And Neck Nose:
bulbous nose
broad nasal bridge
large, ridged nose
overhanging columella

Skin Nails Hair Hair:
sparse hair
central balding

Genitourinary External Genitalia Male:
phimosis
hypospadias (rare)
small testes

Voice:
nasal voice

Growth Other:
lean body build

Abdomen Gastrointestinal:
poor feeding and sucking in infancy
anal atresia (rare)

Muscle Soft Tissue:
muscle atrophy affecting the upper back and neck muscles

Clinical features from OMIM®:

309500 (Updated 05-Apr-2021)

UMLS symptoms related to Renpenning Syndrome 1:


muscle spasticity

MGI Mouse Phenotypes related to Renpenning Syndrome 1:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 mortality/aging MP:0010768 9.32 CDX4 CGAS CRELD1 GALNT11 GDF1 NME8

Drugs & Therapeutics for Renpenning Syndrome 1

Search Clinical Trials , NIH Clinical Center for Renpenning Syndrome 1

Genetic Tests for Renpenning Syndrome 1

Genetic tests related to Renpenning Syndrome 1:

# Genetic test Affiliating Genes
1 Renpenning Syndrome 1 29 PQBP1

Anatomical Context for Renpenning Syndrome 1

MalaCards organs/tissues related to Renpenning Syndrome 1:

40
Testes, Eye, Skeletal Muscle, Heart, Brain

Publications for Renpenning Syndrome 1

Articles related to Renpenning Syndrome 1:

(show all 46)
# Title Authors PMID Year
1
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 6 57 61
20950397 2011
2
Renpenning syndrome comes into focus. 6 57 61
15782410 2005
3
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. 6 57 61
15024694 2004
4
Renpenning syndrome maps to Xp11. 61 6 57
9545405 1998
5
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 57 6
17033686 2007
6
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 6 57
16740914 2006
7
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. 6 57
16493439 2006
8
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation. 57 6
15811016 2005
9
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 57 6
14634649 2003
10
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 57 6
11950858 2002
11
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. 6 57
9599645 1998
12
Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: a new X-linked multiple congenital anomalies/mental retardation syndrome: clinical description and molecular studies. 57 6
7943045 1994
13
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) 57 6
3177467 1988
14
A new X-linked multiple congenital anomalies/mental retardation syndrome. 57 6
6711604 1984
15
Familial sex-linked mental retardation. 6 57
13981686 1962
16
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. 61 6
20410308 2010
17
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). 61 57
15355434 2004
18
Molecular diagnostic experience of whole-exome sequencing in adult patients. 6
26633545 2016
19
Knock-down of PQBP1 impairs anxiety-related cognition in mouse. 57
19661183 2009
20
X-linked mental retardation: a study of 7 families. 57
7211957 1980
21
X-linked mental retardation: Renpenning revisited. 57
7211958 1980
22
Generation of an urine-derived induced pluripotent stem cell line WMUi017-A from a X-linked Renpenning syndrome (X-RSY) patient with the hemizygous PQBP1 gene mutation p.P609A (c.1825C>G). 61
33477035 2021
23
Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability. 61
33668121 2021
24
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. 61
33001864 2021
25
Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype. 61
32903913 2020
26
The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor. 61
32041777 2020
27
The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor. 61
33506771 2020
28
Renpenning syndrome in a female. 61
31840929 2020
29
Renpenning syndrome in an Indian patient. 61
31840915 2020
30
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A). 61
31698189 2019
31
Microphthalmos-anophthalmos-coloboma (MAC) spectrum in two brothers with Renpenning syndrome due to a truncating mutation in the polyglutamine tract binding protein 1 (PQBP1) gene. 61
31718390 2019
32
Frameshift PQBP-1 mutants K192Sfs*7 and R153Sfs*41 implicated in X-linked intellectual disability form stable dimers. 61
30951824 2019
33
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review. 61
30143497 2018
34
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction. 61
28073926 2017
35
X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs. 61
26002102 2015
36
PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1. 61
26046437 2015
37
The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling. 61
25209246 2014
38
X-linked mental deficiency. 61
23622180 2013
39
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. 61
21204222 2011
40
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. 61
10331611 1999
41
X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families). 61
3437266 1987
42
Brief report: linkage between G6PD and fragile-X syndrome. 61
6602550 1983
43
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. 61
7328617 1981
44
Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome). 61
7188916 1980
45
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). 61
6938131 1980
46
"Renpenning" syndrome. 61
4194960 1970

Variations for Renpenning Syndrome 1

ClinVar genetic disease variations for Renpenning Syndrome 1:

6 (show all 32)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PQBP1 NM_005710.2(PQBP1):c.451_452AG[5] (p.Glu154fs) Microsatellite Pathogenic 10981 rs606231193 GRCh37: X:48759668-48759669
GRCh38: X:48902391-48902392
2 PQBP1 NM_005710.2(PQBP1):c.547_569del (p.Glu183fs) Deletion Pathogenic 10983 rs606231197 GRCh37: X:48759761-48759783
GRCh38: X:48902484-48902506
3 PQBP1 NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys) SNV Pathogenic 10985 rs121917899 GRCh37: X:48759221-48759221
GRCh38: X:48901944-48901944
4 PQBP1 NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) SNV Pathogenic 816841 rs1602330420 GRCh37: X:48759680-48759680
GRCh38: X:48902403-48902403
5 PQBP1 NM_005710.2(PQBP1):c.597_598AG[1] (p.Glu200fs) Microsatellite Pathogenic 807471 rs1602332039 GRCh37: X:48760028-48760029
GRCh38: X:48902751-48902752
6 PQBP1 NM_144495.2(PQBP1):c.293-341AG[7] Microsatellite Pathogenic 10979 rs606231193 GRCh37: X:48759667-48759668
GRCh38: X:48902390-48902391
7 PQBP1 NM_005710.2(PQBP1):c.640dup (p.Arg214fs) Duplication Pathogenic 10982 rs606231196 GRCh37: X:48760065-48760066
GRCh38: X:48902788-48902789
8 PQBP1 NM_144495.2(PQBP1):c.293-341AG[4] Microsatellite Pathogenic 10980 rs606231193 GRCh37: X:48759668-48759671
GRCh38: X:48902391-48902394
9 PQBP1 NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) SNV Pathogenic 545093 rs1557041672 GRCh37: X:48760017-48760017
GRCh38: X:48902740-48902740
10 PQBP1 NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser) SNV Likely pathogenic 1030959 GRCh37: X:48755824-48755824
GRCh38: X:48898541-48898541
11 PQBP1 NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter) SNV Likely pathogenic 931434 GRCh37: X:48760054-48760054
GRCh38: X:48902777-48902777
12 PQBP1 NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) SNV Likely pathogenic 977914 GRCh37: X:48760290-48760290
GRCh38: X:48903013-48903013
13 PQBP1 NM_001032382.2(PQBP1):c.*8G>A SNV Uncertain significance 912841 GRCh37: X:48760369-48760369
GRCh38: X:48903092-48903092
14 PQBP1 NM_001032382.2(PQBP1):c.180-306G>A SNV Uncertain significance 977747 GRCh37: X:48758901-48758901
GRCh38: X:48901624-48901624
15 PQBP1 NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln) SNV Uncertain significance 982820 GRCh37: X:48760291-48760291
GRCh38: X:48903014-48903014
16 PQBP1 NM_005710.2(PQBP1):c.-214A>G SNV Uncertain significance 368451 rs1006576758 GRCh37: X:48755579-48755579
GRCh38: X:48898296-48898296
17 PQBP1 NM_005710.2(PQBP1):c.541C>T (p.Arg181Trp) SNV Uncertain significance 561092 rs782792216 GRCh37: X:48759758-48759758
GRCh38: X:48902481-48902481
18 PQBP1 NM_001032382.2(PQBP1):c.642-9C>A SNV Uncertain significance 912839 GRCh37: X:48760196-48760196
GRCh38: X:48902919-48902919
19 PQBP1 NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp) SNV Uncertain significance 988712 GRCh37: X:48759725-48759725
GRCh38: X:48902448-48902448
20 PQBP1 NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp) SNV Uncertain significance 930267 GRCh37: X:48759692-48759692
GRCh38: X:48902415-48902415
21 PQBP1 NM_005710.2(PQBP1):c.397C>T (p.Arg133Trp) SNV Uncertain significance 547755 rs201489630 GRCh37: X:48759614-48759614
GRCh38: X:48902337-48902337
22 PQBP1 NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp) SNV Uncertain significance 998089 GRCh37: X:48759530-48759530
GRCh38: X:48902253-48902253
23 PQBP1 NM_005710.2(PQBP1):c.784A>G (p.Lys262Glu) SNV Uncertain significance 590224 rs1569510706 GRCh37: X:48760347-48760347
GRCh38: X:48903070-48903070
24 PQBP1 NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln) SNV Uncertain significance 1031571 GRCh37: X:48760234-48760234
GRCh38: X:48902957-48902957
25 PQBP1 NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) Deletion Likely benign 10984 rs606231198 GRCh37: X:48759534-48759554
GRCh38: X:48902257-48902277
26 PQBP1 NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) SNV Benign 914802 GRCh37: X:48758501-48758501
GRCh38: X:48901224-48901224
27 PQBP1 NM_005710.2(PQBP1):c.180-3C>T SNV Benign 95309 rs741932 GRCh37: X:48759204-48759204
GRCh38: X:48901927-48901927
28 PQBP1 NM_001032382.2(PQBP1):c.*3C>T SNV Benign 912840 GRCh37: X:48760364-48760364
GRCh38: X:48903087-48903087
29 PQBP1 NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) SNV Benign 912838 GRCh37: X:48759294-48759294
GRCh38: X:48902017-48902017
30 PQBP1 NM_005710.2(PQBP1):c.-87C>T SNV Benign 368452 rs150603792 GRCh37: X:48755706-48755706
GRCh38: X:48898423-48898423
31 PQBP1 NM_005710.2(PQBP1):c.585C>T (p.Ser195=) SNV Benign 368453 rs149688357 GRCh37: X:48760016-48760016
GRCh38: X:48902739-48902739
32 PQBP1 NM_005710.2(PQBP1):c.264G>A (p.Ser88=) SNV Benign 95310 rs398124212 GRCh37: X:48759291-48759291
GRCh38: X:48902014-48902014

UniProtKB/Swiss-Prot genetic disease variations for Renpenning Syndrome 1:

72
# Symbol AA change Variation ID SNP ID
1 PQBP1 p.Tyr65Cys VAR_071063 rs121917899

Expression for Renpenning Syndrome 1

Search GEO for disease gene expression data for Renpenning Syndrome 1.

Pathways for Renpenning Syndrome 1

Pathways related to Renpenning Syndrome 1 according to KEGG:

36
# Name Kegg Source Accession
1 Spliceosome hsa03040

GO Terms for Renpenning Syndrome 1

Biological processes related to Renpenning Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA splicing GO:0008380 9.54 WBP11 TXNL4A PQBP1
2 mRNA splicing, via spliceosome GO:0000398 9.43 WBP11 TXNL4A PQBP1
3 positive regulation of type I interferon production GO:0032481 9.32 PQBP1 CGAS
4 positive regulation of defense response to virus by host GO:0002230 9.16 PQBP1 CGAS
5 activation of innate immune response GO:0002218 8.96 PQBP1 CGAS
6 cellular response to exogenous dsRNA GO:0071360 8.62 PQBP1 CGAS

Sources for Renpenning Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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