RENS1
MCID: RNP003
MIFTS: 49

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 56 73 29 6 71
Renpenning Syndrome 56 12 52 25 58 36 13 15 39
Golabi-Ito-Hall Syndrome 56 12 25 73
X-Linked Intellectual Disability Due to Pqbp1 Mutations 12 52 58
Sutherland-Haan X-Linked Mental Retardation Syndrome 56 12 73
Mrxs3 56 52 73
Mrxs8 56 52 73
X-Linked Intellectual Disability, Renpenning Type 12 58
Sutherland-Haan Syndrome 52 25
Rens1 56 73
Mrx55 56 73
Shs 56 73
Sutherland-Haan X-Linked Mental Retardation Syndrome; Shs 56
Sutherland-Haan X-Linked Intellectual Disability Syndrome 52
X-Linked Intellectual Disability with Spastic Diplegia 52
X-Linked Intellectual Disability, Sutherland-Haan Type 58
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 25
Mental Retardation, X-Linked, with Spastic Diplegia 56
X-Linked Mental Retardation with Spastic Diplegia 12
Mental Retardation X-Linked with Spastic Diplegia 73
Mental Retardation, X-Linked, Syndromic 3; Mrxs3 56
Mental Retardation, X-Linked, Syndromic 8; Mrxs8 56
X-Linked Intellectual Deficit, Renpenning Type 25
Mental Retardation, X-Linked, Renpenning Type 56
X-Linked Mental Retardation Renpenning Type 12
Mental Retardation X-Linked Renpenning Type 73
Mental Retardation, X-Linked, Syndromic 3 56
Mental Retardation, X-Linked, Syndromic 8 56
Syndromic X-Linked Mental Retardation 8 12
Mental Retardation X-Linked Syndromic 3 73
Mental Retardation X-Linked Syndromic 8 73
Mental Retardation, X-Linked 55; Mrx55 56
Hamel Cerebro-Palato-Cardiac Syndrome 58
Hamel Cerebropalatocardiac Syndrome 25
Mental Retardation, X-Linked 55 56
Mental Retardation X-Linked 55 73
Porteous Syndrome 25

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:

56
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:
Clinical modifier death in infancy
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Renpenning Syndrome 1

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. 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 neuroblastoma, 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. The drugs Astragalus and Neuroserpin have been mentioned in the context of this disorder. Affiliated tissues include testes, heart and eye, and related phenotypes are malar flattening and intellectual disability

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.

NIH Rare Diseases : 52 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 : 56 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)

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 : 73 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 1

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

(show top 50) (show all 274)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 2b1 12.1
2 neuroblastoma 11.0
3 dysentery 10.4
4 alacrima, achalasia, and mental retardation syndrome 10.4
5 microcephaly 10.4
6 heart septal defect 10.4
7 atrial heart septal defect 10.4
8 mumps 10.4
9 viral hepatitis 10.3
10 australia antigen 10.3
11 liver disease 10.3
12 hepatitis 10.3
13 pertussis 10.3
14 vaccinia 10.2
15 b-cell lymphoma 10.2
16 hypotrichosis and recurrent skin vesicles 10.2
17 prostatic hypertrophy 10.1
18 allergic hypersensitivity disease 10.1
19 hemangioma 10.1
20 alzheimer disease 10.1
21 triiodothyronine receptor auxiliary protein 10.1
22 cleft palate, isolated 10.1
23 coloboma of macula 10.1
24 fragile x syndrome 10.1
25 apraxia 10.1
26 scoliosis 10.1
27 hypogonadism 10.1
28 progressive muscular atrophy 10.1
29 hypogonadotropism 10.1
30 developmental dyspraxia 10.1
31 hypopigmentation of the skin 10.1
32 pheochromocytoma 10.0
33 pulmonary hypertension, primary, 3 10.0
34 adrenal gland pheochromocytoma 10.0
35 lymphoma 10.0
36 neutropenia 10.0
37 leukodystrophy, hypomyelinating, 9 10.0 TXNL4A FAM183A
38 immune deficiency disease 10.0
39 insulin-like growth factor i 10.0
40 helix syndrome 10.0
41 hand, foot and mouth disease 10.0
42 cholera 10.0
43 bronchiolitis 10.0
44 mouth disease 10.0
45 liver cirrhosis 10.0
46 cataract 10.0
47 lung disease 10.0
48 neuropathy 10.0
49 keratoconjunctivitis 10.0
50 senile cataract 10.0

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 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000272
2 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
3 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
4 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 microcephaly 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000252
8 cleft palate 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000175
9 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
10 narrow mouth 58 31 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000160
11 cachexia 58 31 hallmark (90%) Very frequent (99-80%) HP:0004326
12 atrial septal defect 58 31 hallmark (90%) Very frequent (99-80%) HP:0001631
13 arachnodactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001166
14 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
15 severe short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0003510
16 cupped ear 58 31 hallmark (90%) Very frequent (99-80%) HP:0000378
17 macrotia 58 31 frequent (33%) Frequent (79-30%) HP:0000400
18 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
19 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
20 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
21 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
22 sprengel anomaly 58 31 frequent (33%) Frequent (79-30%) HP:0000912
23 hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000047
24 decreased testicular size 58 31 frequent (33%) Frequent (79-30%) HP:0008734
25 upslanted palpebral fissure 58 31 frequent (33%) Frequent (79-30%) HP:0000582
26 narrow face 58 31 frequent (33%) Frequent (79-30%) HP:0000275
27 abnormality of the ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000772
28 round ear 58 31 frequent (33%) Frequent (79-30%) HP:0100830
29 long face 58 31 frequent (33%) Frequent (79-30%) HP:0000276
30 prominent nose 58 31 frequent (33%) Frequent (79-30%) HP:0000448
31 thin eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0045074
32 pectus excavatum 58 31 occasional (7.5%) Occasional (29-5%) HP:0000767
33 seizures 58 31 occasional (7.5%) Occasional (29-5%) HP:0001250
34 diabetes mellitus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000819
35 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
36 joint stiffness 58 31 occasional (7.5%) Occasional (29-5%) HP:0001387
37 broad columella 58 31 occasional (7.5%) Occasional (29-5%) HP:0010761
38 sensorineural hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000407
39 high, narrow palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002705
40 abnormal thumb morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0001172
41 strabismus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000486
42 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
43 iris coloboma 58 31 occasional (7.5%) Occasional (29-5%) HP:0000612
44 anal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002023
45 high hypermetropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008499
46 macrodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001572
47 abnormal hair laboratory examination 58 31 occasional (7.5%) Occasional (29-5%) HP:0003328
48 heterotaxy 58 31 occasional (7.5%) Occasional (29-5%) HP:0030853
49 microphthalmia 31 occasional (7.5%) HP:0000568
50 renal hypoplasia 31 occasional (7.5%) HP:0000089

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
brain atrophy
spasticity
hyperreflexia
mental retardation
seizures (rare)

Head And Neck Eyes:
cataract
strabismus
epicanthus
hypermetropia
upslanting palpebral fissures
more
Head And Neck Face:
micrognathia
triangular face
prognathism
malar hypoplasia
long, narrow face (post adolescence)
more
Head And Neck Head:
microcephaly
brachycephaly

Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features

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

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

Growth Height:
short stature

Cardiovascular Heart:
ventricular septal defect
atrial septal defect
tetralogy of fallot
congenital heart defects
situs inversus (rare)

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

Skeletal Feet:
pes cavus
slender feet

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

UMLS symptoms related to Renpenning Syndrome 1:


muscle spasticity

Drugs & Therapeutics for Renpenning Syndrome 1

Drugs for Renpenning Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Astragalus
2 Neuroserpin

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Genetic Disease Gene Identification Unknown status NCT00916903

Search 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, Heart, Eye, Skeletal Muscle, T Cells, Liver, Brain

Publications for Renpenning Syndrome 1

Articles related to Renpenning Syndrome 1:

(show all 39)
# Title Authors PMID Year
1
Renpenning syndrome comes into focus. 61 56 6
15782410 2005
2
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. 61 56 6
15024694 2004
3
Renpenning syndrome maps to Xp11. 61 56 6
9545405 1998
4
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation. 56 6
17033686 2007
5
Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene. 56 6
16740914 2006
6
Exonic microdeletions in the X-linked PQBP1 gene in mentally retarded patients: a pathogenic mutation and in-frame deletions of uncertain effect. 56 6
16493439 2006
7
Skewed X-inactivation in a family with mental retardation and PQBP1 gene mutation. 56 6
15811016 2005
8
Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. 56 6
14634649 2003
9
A new MRXS locus maps to the X chromosome pericentromeric region: a new syndrome or narrow definition of Sutherland-Haan genetic locus? 56 6
11950858 2002
10
A gene for non-specific X-linked mental retardation (MRX55) is located in Xp11. 56 6
9599645 1998
11
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. 56 6
7943045 1994
12
Linkage studies with the gene for an X-linked syndrome of mental retardation, microcephaly and spastic diplegia (MRX2) 56 6
3177467 1988
13
A new X-linked multiple congenital anomalies/mental retardation syndrome. 56 6
6711604 1984
14
Familial sex-linked mental retardation. 56 6
13981686 1962
15
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. 61 56
20950397 2011
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 56
15355434 2004
18
Knock-down of PQBP1 impairs anxiety-related cognition in mouse. 56
19661183 2009
19
X-linked mental retardation: a study of 7 families. 56
7211957 1980
20
X-linked mental retardation: Renpenning revisited. 56
7211958 1980
21
Renpenning syndrome in an Indian patient. 61
31840915 2020
22
Induced pluripotent stem cells (iPSCs) derived from a renpenning syndrome patient with c.459_462delAGAG mutation in PQBP1 (PEIi001-A). 61
31698189 2019
23
Renpenning syndrome in a female. 61
31840929 2019
24
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
25
Frameshift PQBP-1 mutants K192Sfs*7 and R153Sfs*41 implicated in X-linked intellectual disability form stable dimers. 61
30951824 2019
26
First Korean Case of Renpenning Syndrome with Novel Mutation in PQBP1 Diagnosed by Targeted Exome Sequencing, and Literature Review. 61
30143497 2018
27
Mutations of PQBP1 in Renpenning syndrome promote ubiquitin-mediated degradation of FMRP and cause synaptic dysfunction. 61
28073926 2017
28
X chromosome-linked intellectual disability protein PQBP1 associates with and regulates the translation of specific mRNAs. 61
26002102 2015
29
PQBP1 Is a Proximal Sensor of the cGAS-Dependent Innate Response to HIV-1. 61
26046437 2015
30
The splicing factor PQBP1 regulates mesodermal and neural development through FGF signaling. 61
25209246 2014
31
X-linked mental deficiency. 61
23622180 2013
32
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. 61
21204222 2011
33
Mapping of a gene (MRXS9) for X-linked mental retardation, microcephaly, and variably short stature to Xq12-q21.31. 61
10331611 1999
34
X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families). 61
3437266 1987
35
Brief report: linkage between G6PD and fragile-X syndrome. 61
6602550 1983
36
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. 61
7328617 1981
37
Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome). 61
7188916 1980
38
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). 61
6938131 1980
39
"Renpenning" syndrome. 61
4194960 1970

Variations for Renpenning Syndrome 1

ClinVar genetic disease variations for Renpenning Syndrome 1:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PQBP1 NM_005710.2(PQBP1):c.451_452AG[5] (p.Glu154fs)short repeat Pathogenic 10981 rs606231193 X:48759668-48759669 X:48902391-48902392
2 PQBP1 NM_005710.2(PQBP1):c.640dup (p.Arg214fs)duplication Pathogenic 10982 rs606231196 X:48760065-48760066 X:48902788-48902789
3 PQBP1 NM_005710.2(PQBP1):c.547_569del (p.Glu183fs)deletion Pathogenic 10983 rs606231197 X:48759761-48759783 X:48902484-48902506
4 PQBP1 NM_005710.2(PQBP1):c.451_452AG[7] (p.Arg155fs)short repeat Pathogenic 10979 rs606231193 X:48759667-48759668 X:48902390-48902391
5 PQBP1 NM_005710.2(PQBP1):c.194A>G (p.Tyr65Cys)SNV Pathogenic 10985 rs121917899 X:48759221-48759221 X:48901944-48901944
6 PQBP1 NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter)SNV Pathogenic 545093 rs1557041672 X:48760017-48760017 X:48902740-48902740
7 PQBP1 NM_005710.2(PQBP1):c.597_598AG[1] (p.Glu200fs)short repeat Pathogenic 807471 X:48760028-48760029 X:48902751-48902752
8 PQBP1 NM_144495.2(PQBP1):c.293-341AG[4]short repeat Pathogenic/Likely pathogenic 10980 rs606231193 X:48759668-48759671 X:48902391-48902394
9 PQBP1 NM_005710.2(PQBP1):c.397C>T (p.Arg133Trp)SNV Uncertain significance 547755 rs201489630 X:48759614-48759614 X:48902337-48902337
10 PQBP1 NM_005710.2(PQBP1):c.541C>T (p.Arg181Trp)SNV Uncertain significance 561092 rs782792216 X:48759758-48759758 X:48902481-48902481
11 PQBP1 NM_005710.2(PQBP1):c.-214A>GSNV Uncertain significance 368451 rs1006576758 X:48755579-48755579 X:48898296-48898296
12 PQBP1 NM_005710.2(PQBP1):c.-87C>TSNV Likely benign 368452 rs150603792 X:48755706-48755706 X:48898423-48898423
13 PQBP1 NM_005710.2(PQBP1):c.585C>T (p.Ser195=)SNV Benign/Likely benign 368453 rs149688357 X:48760016-48760016 X:48902739-48902739
14 PQBP1 NM_005710.2(PQBP1):c.264G>A (p.Ser88=)SNV Benign/Likely benign 95310 rs398124212 X:48759291-48759291 X:48902014-48902014
15 PQBP1 NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del)deletion Benign/Likely benign 10984 rs606231198 X:48759534-48759554 X:48902257-48902277
16 PQBP1 NM_005710.2(PQBP1):c.180-3C>TSNV Benign 95309 rs741932 X:48759204-48759204 X:48901927-48901927

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 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 9.13 WBP11 TXNL4A PQBP1
2 mRNA splicing, via spliceosome GO:0000398 8.8 WBP11 TXNL4A PQBP1

Sources for Renpenning Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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