RENS1
MCID: RNP003
MIFTS: 46

Renpenning Syndrome 1 (RENS1)

Categories: Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases
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Aliases & Classifications for Renpenning Syndrome 1

MalaCards integrated aliases for Renpenning Syndrome 1:

Name: Renpenning Syndrome 1 57 73 71
Renpenning Syndrome 57 11 19 42 58 28 12 5 14 38
Golabi-Ito-Hall Syndrome 57 11 42 73
X-Linked Intellectual Disability Due to Pqbp1 Mutations 11 19 58
Mrxs3 57 19 73
Mrxs8 57 19 73
Sutherland-Haan X-Linked Mental Retardation Syndrome 57 11
X-Linked Intellectual Disability, Renpenning Type 11 58
Sutherland-Haan Syndrome 19 42
Rens1 57 73
Mrx55 57 73
Shs 57 73
Sutherland-Haan X-Linked Intellectual Disability Syndrome 19
X-Linked Intellectual Disability with Spastic Diplegia 19
X-Linked Intellectual Disability, Sutherland-Haan Type 58
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 42
Mental Retardation, X-Linked, with Spastic Diplegia 57
X-Linked Mental Retardation with Spastic Diplegia 11
X-Linked Intellectual Deficit, Renpenning Type 42
Mental Retardation, X-Linked, Renpenning Type 57
X-Linked Mental Retardation Renpenning Type 11
Mental Retardation, X-Linked, Syndromic 3 57
Mental Retardation, X-Linked, Syndromic 8 57
Syndromic X-Linked Mental Retardation 8 11
Hamel Cerebro-Palato-Cardiac Syndrome 58
Hamel Cerebropalatocardiac Syndrome 42
Mental Retardation, X-Linked 55 57
Renpenning Syndrome, Type 1 38
Porteous Syndrome 42

Characteristics:


Inheritance:

Renpenning Syndrome 1: X-linked recessive 57
Renpenning Syndrome: X-linked recessive 58
Hamel Cerebro-Palato-Cardiac Syndrome: X-linked recessive 58
X-Linked Intellectual Disability, Sutherland-Haan Type: X-linked recessive 58

Prevelance:

Renpenning Syndrome: <1/1000000 (Worldwide) 58
Hamel Cerebro-Palato-Cardiac Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Renpenning Syndrome: Infancy,Neonatal 58
Hamel Cerebro-Palato-Cardiac Syndrome: Infancy,Neonatal 58

Age Of Death:

Renpenning Syndrome: normal life expectancy 58
Hamel Cerebro-Palato-Cardiac Syndrome: normal life expectancy 58

OMIM®:

57 (Updated 24-Oct-2022)
Miscellaneous:
clinical variability
features in typical patient include mental retardation, microcephaly, short stature, and lean body build
skewed x-inactivation in carriers


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Renpenning Syndrome 1

MedlinePlus Genetics: 42 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 x-linked intellectual disability, golabi-ito-hall type, 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 Processing of Capped Intron-Containing Pre-mRNA. Affiliated tissues include testes, heart and eye, and related phenotypes are intellectual disability and global developmental delay

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 24-Oct-2022)

GARD: 19 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. People who have Renpenning syndrome may have moderate to severe intellectual disability. Additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities. Renpenning syndrome is caused by genetic changes in the PQBP1 gene and is inherited in an X-linked recessive manner.

UniProtKB/Swiss-Prot: 73 An X-linked syndrome characterized by intellectual disability, 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.

Orphanet 58 Renpenning syndrome: Renpenning syndrome is an X-linked intellectual disability syndrome (XLMR, see this term) characterized by intellectual deficiency, microcephaly, leanness and mild short stature.

Hamel cerebro-palato-cardiac syndrome: An X-linked intellectual disability syndrome (XLMR) characterized by intellectual deficiency, microcephaly and short stature. It belongs to the group of disorders collectively referred to as Renpenning syndrome.

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.

Related Diseases for Renpenning Syndrome 1

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

(show top 50) (show all 64)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 2b1 11.5
2 x-linked intellectual disability, golabi-ito-hall type 11.1
3 alacrima, achalasia, and mental retardation syndrome 10.2
4 microcephaly 10.2
5 heart septal defect 10.2
6 atrial heart septal defect 10.2
7 interatrial communication 10.2
8 coloboma of macula 10.1
9 muscular atrophy 10.1
10 polykaryocytosis inducer 10.0
11 ocular motor apraxia 10.0
12 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 10.0
13 hepatic coma 10.0
14 hepatic encephalopathy 10.0
15 children's interstitial lung disease 10.0
16 non-syndromic x-linked intellectual disability 10.0
17 cleft palate, isolated 10.0
18 dilution, pigmentary 10.0
19 tetralogy of fallot 10.0
20 pseudovaginal perineoscrotal hypospadias 10.0
21 fragile x syndrome 10.0
22 agammaglobulinemia, x-linked 10.0
23 apraxia 10.0
24 scoliosis 10.0
25 microphthalmia 10.0
26 hypogonadism 10.0
27 ankylosis 10.0
28 agammaglobulinemia 10.0
29 progressive muscular atrophy 10.0
30 turner syndrome 10.0
31 agnosia 10.0
32 coloboma of iris 10.0
33 penis agenesis 10.0
34 developmental dyspraxia 10.0
35 hypopigmentation of the skin 10.0
36 syndromic x-linked intellectual disability 9.9 WBP11 TXNL4A PQBP1
37 syndromic intellectual disability 9.9 WBP11 TXNL4A PQBP1
38 adult syndrome 9.9
39 apnea, obstructive sleep 9.9
40 factor viii deficiency 9.9
41 ige responsiveness, atopic 9.9
42 tobacco addiction 9.9
43 proteasome-associated autoinflammatory syndrome 1 9.9
44 ataxia with vitamin e deficiency 9.9
45 asthma 9.9
46 chudley-mccullough syndrome 9.9
47 pulmonary disease, chronic obstructive 9.9
48 coronary heart disease 1 9.9
49 smoking as a quantitative trait locus 3 9.9
50 short stature, onychodysplasia, facial dysmorphism, and hypotrichosis 9.9

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 30 (show top 50) (show all 91)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 30 Hallmark (90%) Very frequent (99-80%)
Very frequent (99-80%)
HP:0001249
2 global developmental delay 58 30 Very rare (1%) Very frequent (99-80%)
Frequent (79-30%)
HP:0001263
3 wide nasal bridge 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000431
4 microcephaly 58 30 Very rare (1%) Very frequent (99-80%)
Very frequent (99-80%)
Very frequent (99-80%)
HP:0000252
5 short stature 58 30 Very rare (1%) Very frequent (99-80%)
Frequent (79-30%)
HP:0004322
6 skeletal muscle atrophy 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003202
7 cleft palate 58 30 Very rare (1%) Very frequent (99-80%)
Occasional (29-5%)
HP:0000175
8 micrognathia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0000347
9 atrial septal defect 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001631
10 arachnodactyly 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0001166
11 cachexia 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0004326
12 narrow mouth 58 30 Very rare (1%) Very frequent (99-80%)
Occasional (29-5%)
HP:0000160
13 malar flattening 58 30 Frequent (33%) Very frequent (99-80%)
Frequent (79-30%)
HP:0000272
14 bulbous nose 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000414
15 cupped ear 58 30 Very rare (1%) Very frequent (99-80%)
HP:0000378
16 severe short stature 58 30 Hallmark (90%) Very frequent (99-80%)
HP:0003510
17 spasticity 58 30 Very rare (1%) Frequent (79-30%)
HP:0001257
18 macrotia 58 30 Very rare (1%) Frequent (79-30%)
Occasional (29-5%)
HP:0000400
19 mandibular prognathia 58 30 Very rare (1%) Frequent (79-30%)
Occasional (29-5%)
HP:0000303
20 brachycephaly 58 30 Very rare (1%) Frequent (79-30%)
HP:0000248
21 intellectual disability, severe 58 30 Frequent (33%) Frequent (79-30%)
HP:0010864
22 epicanthus 58 30 Very rare (1%) Frequent (79-30%)
HP:0000286
23 alopecia 58 30 Frequent (33%) Frequent (79-30%)
HP:0001596
24 sprengel anomaly 58 30 Frequent (33%) Frequent (79-30%)
HP:0000912
25 narrow face 58 30 Very rare (1%) Frequent (79-30%)
Occasional (29-5%)
HP:0000275
26 upslanted palpebral fissure 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0000582
27 round ear 58 30 Frequent (33%) Frequent (79-30%)
HP:0100830
28 long face 58 30 Frequent (33%) Frequent (79-30%)
Occasional (29-5%)
HP:0000276
29 hypospadias 58 30 Very rare (1%) Frequent (79-30%)
HP:0000047
30 short philtrum 58 30 Very rare (1%) Frequent (79-30%)
HP:0000322
31 decreased testicular size 58 30 Very rare (1%) Frequent (79-30%)
Frequent (79-30%)
HP:0008734
32 hypoplasia of the maxilla 58 30 Frequent (33%) Frequent (79-30%)
HP:0000327
33 prominent nose 58 30 Frequent (33%) Frequent (79-30%)
HP:0000448
34 small for gestational age 58 30 Frequent (33%) Frequent (79-30%)
HP:0001518
35 thin eyebrow 58 30 Frequent (33%) Frequent (79-30%)
HP:0045074
36 abnormal rib morphology 30 Frequent (33%) HP:0000772
37 diabetes mellitus 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000819
38 cataract 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000518
39 joint stiffness 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001387
40 sensorineural hearing impairment 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000407
41 intellectual disability, mild 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001256
42 strabismus 58 30 Very rare (1%) Occasional (29-5%)
Occasional (29-5%)
HP:0000486
43 high, narrow palate 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0002705
44 pectus excavatum 58 30 Very rare (1%) Occasional (29-5%)
HP:0000767
45 anal atresia 58 30 Very rare (1%) Occasional (29-5%)
Occasional (29-5%)
HP:0002023
46 clinodactyly of the 5th finger 58 30 Very rare (1%) Occasional (29-5%)
HP:0004209
47 iris coloboma 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0000612
48 high hypermetropia 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0008499
49 macrodontia 58 30 Very rare (1%) Occasional (29-5%)
HP:0001572
50 abnormal thumb morphology 58 30 Occasional (7.5%) Occasional (29-5%)
HP:0001172

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 24-Oct-2022)

UMLS symptoms related to Renpenning Syndrome 1:


muscle spasticity

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 28 PQBP1

Anatomical Context for Renpenning Syndrome 1

Organs/tissues related to Renpenning Syndrome 1:

MalaCards : Testes, Heart, Eye, Skeletal Muscle, Brain, Kidney
ODiseA: Brain, Kidney

Publications for Renpenning Syndrome 1

Articles related to Renpenning Syndrome 1:

(show top 50) (show all 54)
# Title Authors PMID Year
1
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 62 57 5
20950397 2011
2
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 62 57 5
17033686 2007
3
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 62 57 5
16740914 2006
4
Renpenning syndrome comes into focus. 62 57 5
15782410 2005
5
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. 62 57 5
15024694 2004
6
Renpenning syndrome maps to Xp11. 62 57 5
9545405 1998
7
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. 62 57 5
9599645 1998
8
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. 57 5
16493439 2006
9
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation. 57 5
15811016 2005
10
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 57 5
14634649 2003
11
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 57 5
11950858 2002
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 5
7943045 1994
13
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) 57 5
3177467 1988
14
A new X-linked multiple congenital anomalies/mental retardation syndrome. 57 5
6711604 1984
15
Familial sex-linked mental retardation. 57 5
13981686 1962
16
Fatal Attraction: The Case of Toxic Soluble Dimers of Truncated PQBP-1 Mutants in X-Linked Intellectual Disability. 62 5
33668121 2021
17
Renpenning syndrome in a female. 62 5
31840929 2020
18
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review. 62 5
30143497 2018
19
Y65C missense mutation in the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 affects its binding activity and deregulates pre-mRNA splicing. 62 5
20410308 2010
20
Genotype-phenotype studies in three families with mutations in the polyglutamine-binding protein 1 gene (PQBP1). 62 57
15355434 2004
21
The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance. 5
31230720 2019
22
Molecular diagnostic experience of whole-exome sequencing in adult patients. 5
26633545 2016
23
Mutations in the PQBP1 gene prevent its interaction with the spliceosomal protein U5-15 kD. 5
24781215 2014
24
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1. 5
21267006 2011
25
Knock-down of PQBP1 impairs anxiety-related cognition in mouse. 57
19661183 2009
26
X-linked mental retardation: Renpenning revisited. 57
7211958 1980
27
X-linked mental retardation: a study of 7 families. 57
7211957 1980
28
A mild clinical and neuropsychological phenotype of Renpenning syndrome: A new case report with a maternally inherited PQBP1 missense mutation. 62
34470565 2022
29
A rare etiology of tetralogy of Fallot with pulmonary atresia: Renpenning syndrome. 62
35190366 2022
30
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). 62
33477035 2021
31
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing. 62
33001864 2021
32
Renpenning Syndrome in a Turkish Patient: de novo Variant c.607C>T in PACS1 and Hypogammaglobulinemia Phenotype. 62
32903913 2020
33
The Renpenning syndrome-associated protein PQBP1 facilitates the nuclear import of splicing factor TXNL4A through the karyopherin β2 receptor. 62
32041777 2020
34
Renpenning syndrome in an Indian patient. 62
31840915 2020
35
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A). 62
31698189 2019
36
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. 62
31718390 2019
37
Frameshift PQBP-1 mutants K192Sfs*7 and R153Sfs*41 implicated in X-linked intellectual disability form stable dimers. 62
30951824 2019
38
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction. 62
28073926 2017
39
X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs. 62
26002102 2015
40
PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1. 62
26046437 2015
41
The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling. 62
25209246 2014
42
X-linked mental deficiency. 62
23622180 2013
43
Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1. 62
22710169 2012
44
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. 62
21204222 2011
45
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. 62
10331611 1999
46
Genetic localisation of mental retardation with spastic diplegia to the pericentromeric region of the X chromosome: X inactivation in female carriers. 62
9598720 1998
47
Gene localisation for Sutherland-Haan syndrome (SHS:MIM 309470) 62
8826453 1996
48
Nomenclature guidelines for X-linked mental retardation. 62
1605216 1992
49
X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families). 62
3437266 1987
50
Brief report: linkage between G6PD and fragile-X syndrome. 62
6602550 1983

Variations for Renpenning Syndrome 1

ClinVar genetic disease variations for Renpenning Syndrome 1:

5 (show all 35)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PQBP1 NM_001032382.2(PQBP1):c.461_462del (p.Glu154fs) MICROSAT Pathogenic
Pathogenic
Pathogenic
10981 rs606231193 GRCh37: X:48759668-48759669
GRCh38: X:48902391-48902392
2 PQBP1 NM_001032382.2(PQBP1):c.547_569del (p.Glu183fs) DEL Pathogenic
10983 rs606231197 GRCh37: X:48759761-48759783
GRCh38: X:48902484-48902506
3 PQBP1 NM_001032382.2(PQBP1):c.599_600del (p.Glu200fs) MICROSAT Pathogenic
807471 rs1602332039 GRCh37: X:48760028-48760029
GRCh38: X:48902751-48902752
4 PQBP1 NM_001032382.2(PQBP1):c.175_178del (p.Ser59fs) DEL Pathogenic
1684266 GRCh37: X:48758571-48758574
GRCh38: X:48901294-48901297
5 PQBP1 NM_001032382.2(PQBP1):c.586C>T (p.Arg196Ter) SNV Pathogenic
545093 rs1557041672 GRCh37: X:48760017-48760017
GRCh38: X:48902740-48902740
6 PQBP1 NM_001032382.2(PQBP1):c.194A>G (p.Tyr65Cys) SNV Pathogenic
10985 rs121917899 GRCh37: X:48759221-48759221
GRCh38: X:48901944-48901944
7 PQBP1 NM_001032382.2(PQBP1):c.292+1G>A SNV Pathogenic
1517778 GRCh37: X:48759320-48759320
GRCh38: X:48902043-48902043
8 PQBP1 NM_001032382.2(PQBP1):c.640dup (p.Arg214fs) DUP Pathogenic
10982 rs606231196 GRCh37: X:48760065-48760066
GRCh38: X:48902788-48902789
9 PQBP1 NM_001032382.2(PQBP1):c.575_576del (p.Lys192fs) DEL Pathogenic
1691229 GRCh37: X:48759792-48759793
GRCh38: X:48902515-48902516
10 PQBP1 NM_001032382.2(PQBP1):c.463C>T (p.Arg155Ter) SNV Likely Pathogenic
816841 rs1602330420 GRCh37: X:48759680-48759680
GRCh38: X:48902403-48902403
11 PQBP1 NM_001032382.2(PQBP1):c.32T>C (p.Leu11Ser) SNV Likely Pathogenic
1030959 rs2063344708 GRCh37: X:48755824-48755824
GRCh38: X:48898541-48898541
12 PQBP1 NM_001032382.2(PQBP1):c.623C>A (p.Ser208Ter) SNV Likely Pathogenic
931434 rs2063444025 GRCh37: X:48760054-48760054
GRCh38: X:48902777-48902777
13 PQBP1 NM_001032382.2(PQBP1):c.727C>T (p.Arg243Trp) SNV Likely Pathogenic
977914 rs2063451959 GRCh37: X:48760290-48760290
GRCh38: X:48903013-48903013
14 PQBP1 NM_001032382.2(PQBP1):c.728G>A (p.Arg243Gln) SNV Uncertain Significance
982820 rs782596874 GRCh37: X:48760291-48760291
GRCh38: X:48903014-48903014
15 PQBP1 NM_001032382.2(PQBP1):c.508C>T (p.Arg170Trp) SNV Uncertain Significance
988712 rs781986555 GRCh37: X:48759725-48759725
GRCh38: X:48902448-48902448
16 PQBP1 NM_001032382.2(PQBP1):c.313C>T (p.Arg105Trp) SNV Uncertain Significance
998089 rs1222724041 GRCh37: X:48759530-48759530
GRCh38: X:48902253-48902253
17 PQBP1 NM_001032382.2(PQBP1):c.642-9C>A SNV Uncertain Significance
912839 rs782015028 GRCh37: X:48760196-48760196
GRCh38: X:48902919-48902919
18 PQBP1 NM_001032382.2(PQBP1):c.*8G>A SNV Uncertain Significance
912841 rs376272913 GRCh37: X:48760369-48760369
GRCh38: X:48903092-48903092
19 PQBP1 NM_001032382.2(PQBP1):c.397C>T (p.Arg133Trp) SNV Uncertain Significance
547755 rs201489630 GRCh37: X:48759614-48759614
GRCh38: X:48902337-48902337
20 PQBP1 NM_001032382.2(PQBP1):c.541C>T (p.Arg181Trp) SNV Uncertain Significance
561092 rs782792216 GRCh37: X:48759758-48759758
GRCh38: X:48902481-48902481
21 PQBP1 NM_001032382.2(PQBP1):c.-18-196A>G SNV Uncertain Significance
368451 rs1006576758 GRCh37: X:48755579-48755579
GRCh38: X:48898296-48898296
22 PQBP1 NM_001032382.2(PQBP1):c.784A>G (p.Lys262Glu) SNV Uncertain Significance
590224 rs1569510706 GRCh37: X:48760347-48760347
GRCh38: X:48903070-48903070
23 PQBP1 NM_001032382.2(PQBP1):c.671G>A (p.Arg224Gln) SNV Uncertain Significance
1031571 rs1249414837 GRCh37: X:48760234-48760234
GRCh38: X:48902957-48902957
24 PQBP1 NM_001032382.2(PQBP1):c.743C>G (p.Pro248Arg) SNV Uncertain Significance
1333417 GRCh37: X:48760306-48760306
GRCh38: X:48903029-48903029
25 PQBP1 NM_001032382.2(PQBP1):c.530G>A (p.Arg177His) SNV Uncertain Significance
1527945 GRCh37: X:48759747-48759747
GRCh38: X:48902470-48902470
26 PQBP1 NM_001032382.2(PQBP1):c.180-306G>A SNV Uncertain Significance
977747 rs2063414930 GRCh37: X:48758901-48758901
GRCh38: X:48901624-48901624
27 PQBP1 NM_001032382.2(PQBP1):c.475C>T (p.Arg159Trp) SNV Uncertain Significance
930267 rs200715521 GRCh37: X:48759692-48759692
GRCh38: X:48902415-48902415
28 PQBP1 NM_001032382.2(PQBP1):c.334_354del (p.Gly113_Arg119del) DEL Likely Benign
10984 rs606231198 GRCh37: X:48759534-48759554
GRCh38: X:48902257-48902277
29 PQBP1 NM_001032382.2(PQBP1):c.264G>A (p.Ser88=) SNV Benign
95310 rs398124212 GRCh37: X:48759291-48759291
GRCh38: X:48902014-48902014
30 PQBP1 NM_001032382.2(PQBP1):c.585C>T (p.Ser195=) SNV Benign
368453 rs149688357 GRCh37: X:48760016-48760016
GRCh38: X:48902739-48902739
31 PQBP1 NM_001032382.2(PQBP1):c.180-3C>T SNV Benign
95309 rs741932 GRCh37: X:48759204-48759204
GRCh38: X:48901927-48901927
32 PQBP1 NM_001032382.2(PQBP1):c.-18-69C>T SNV Benign
368452 rs150603792 GRCh37: X:48755706-48755706
GRCh38: X:48898423-48898423
33 PQBP1 NM_001032382.2(PQBP1):c.267C>T (p.Ala89=) SNV Benign
912838 rs139730174 GRCh37: X:48759294-48759294
GRCh38: X:48902017-48902017
34 PQBP1 NM_001032382.2(PQBP1):c.102C>T (p.Asp34=) SNV Benign
914802 rs143156492 GRCh37: X:48758501-48758501
GRCh38: X:48901224-48901224
35 PQBP1 NM_001032382.2(PQBP1):c.*3C>T SNV Benign
912840 rs781944808 GRCh37: X:48760364-48760364
GRCh38: X:48903087-48903087

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

73
# 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 GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.18 WBP11 TXNL4A RPL10 PQBP1 NUP188

GO Terms for Renpenning Syndrome 1

Sources for Renpenning Syndrome 1

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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