MCID: RNP003
MIFTS: 52

Renpenning Syndrome 1

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

Aliases & Classifications for Renpenning Syndrome 1

MalaCards integrated aliases for Renpenning Syndrome 1:

Name: Renpenning Syndrome 1 57 53 75 29 6 73
Renpenning Syndrome 57 12 25 59 37 13 15 40
Sutherland-Haan X-Linked Mental Retardation Syndrome 57 12 53 75
Golabi-Ito-Hall Syndrome 57 12 25 75
Rens1 57 53 75
Mrxs3 57 53 75
Mrxs8 57 53 75
X-Linked Intellectual Disability Due to Pqbp1 Mutations 12 59
X-Linked Intellectual Disability, Renpenning Type 12 59
X-Linked Mental Retardation with Spastic Diplegia 12 53
Mental Retardation, X-Linked, Syndromic 8 57 53
Sutherland-Haan Syndrome 53 25
Mrx55 57 75
Shs 57 75
Sutherland-Haan X-Linked Mental Retardation Syndrome; Shs 57
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 25
Mental Retardation, X-Linked, with Spastic Diplegia 57
Mental Retardation X-Linked with Spastic Diplegia 75
Mental Retardation, X-Linked, Syndromic 3; Mrxs3 57
Mental Retardation, X-Linked, Syndromic 8; Mrxs8 57
X-Linked Intellectual Deficit, Renpenning Type 25
Mental Retardation, X-Linked, Renpenning Type 57
Mental Retardation, X-Linked Renpenning Type 53
X-Linked Mental Retardation Renpenning Type 12
Mental Retardation X-Linked Renpenning Type 75
Mental Retardation, X-Linked, Syndromic 3 57
Syndromic X-Linked Mental Retardation 8 12
X-Linked Mental Retardation Syndromic 3 53
Mental Retardation X-Linked Syndromic 3 75
Mental Retardation X-Linked Syndromic 8 75
Mental Retardation, X-Linked 55; Mrx55 57
Hamel Cerebro-Palato-Cardiac Syndrome 59
Hamel Cerebropalatocardiac Syndrome 25
Mental Retardation, X-Linked 55 57
Mental Retardation X-Linked 55 75
Porteous Syndrome 25

Characteristics:

Orphanet epidemiological data:

59
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
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:

32
renpenning syndrome 1:
Mortality/Aging death in infancy
Inheritance x-linked recessive inheritance


Classifications:



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.

MalaCards based summary : Renpenning Syndrome 1, also known as renpenning syndrome, is related to arthrogryposis, distal, type 5 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 are Spliceosome and Vemurafenib Pathway, Pharmacodynamics. The drugs Iodine and Ribavirin have been mentioned in the context of this disorder. Affiliated tissues include testes, eye and heart, and related phenotypes are malar flattening and pectus excavatum

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 : 53 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)

UniProtKB/Swiss-Prot : 75 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 52)
# Related Disease Score Top Affiliating Genes
1 arthrogryposis, distal, type 5 11.2
2 neuroblastoma 10.6
3 neuronitis 10.2
4 mental retardation, x-linked, syndromic 13 10.1 DLG3 MECP2
5 humeroradial synostosis 10.0 FGFR2 STMN1
6 mumps 10.0
7 dysentery 10.0
8 x-linked non-specific intellectual disability 10.0 DLG3 MECP2
9 microcephaly 9.9
10 developmental dyspraxia 9.9
11 hepatitis 9.9
12 neuropathy 9.9
13 non-syndromic intellectual disability 9.9 DLG3 OPHN1
14 cataract 9.8
15 hepatic coma 9.8
16 senile cataract 9.8
17 endotheliitis 9.8
18 alzheimer disease 9.7
19 leukemia, chronic lymphocytic 2 9.7
20 hepatocellular carcinoma 9.7
21 leukemia, chronic lymphocytic 9.7
22 myasthenia gravis 9.7
23 hepatitis c virus 9.7
24 adult t-cell leukemia 9.7
25 diabetic neuropathy 9.7
26 hemangioma 9.7
27 neutropenia 9.7
28 lymphoma 9.7
29 gastric ulcer 9.7
30 pertussis 9.7
31 esophagitis 9.7
32 hepatitis c 9.7
33 ankylosis 9.7
34 cervicitis 9.7
35 sick building syndrome 9.7
36 breast disease 9.7
37 brain stem infarction 9.7
38 sclerosing hemangioma 9.7
39 peripheral nervous system disease 9.7
40 t-cell leukemia 9.7
41 herpes simplex 9.7
42 fibromatosis 9.7
43 glioma 9.7
44 infantile digital fibromatosis 9.7
45 leukemia, b-cell, chronic 9.7
46 mercury poisoning 9.7
47 myasthenia gravis congenital 9.7
48 depression 9.7
49 neonatal alloimmune neutropenia 9.7
50 specific developmental disorder 9.6 DLG3 MECP2 OPHN1 PQBP1

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



Diseases related to Renpenning Syndrome 1

Symptoms & Phenotypes for Renpenning Syndrome 1

Symptoms via clinical synopsis from OMIM:

57
Neurologic Central Nervous System:
brain atrophy
spasticity
hyperreflexia
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)

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

Head And Neck Head:
microcephaly
brachycephaly

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

Neurologic Behavioral Psychiatric Manifestations:
anxiety
autistic features

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

Human phenotypes related to Renpenning Syndrome 1:

59 32 (show top 50) (show all 82)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 malar flattening 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000272
2 pectus excavatum 59 32 occasional (7.5%) Occasional (29-5%) HP:0000767
3 diabetes mellitus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000819
4 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0001249
5 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
6 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
7 macrotia 59 32 frequent (33%) Frequent (79-30%) HP:0000400
8 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
9 global developmental delay 59 32 hallmark (90%) Very frequent (99-80%) HP:0001263
10 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
11 joint stiffness 59 32 occasional (7.5%) Occasional (29-5%) HP:0001387
12 microcephaly 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000252
13 sensorineural hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000407
14 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
15 skeletal muscle atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0003202
16 cleft palate 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000175
17 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
18 abnormality of the thumb 59 32 occasional (7.5%) Occasional (29-5%) HP:0001172
19 strabismus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000486
20 epicanthus 59 32 frequent (33%) Frequent (79-30%) HP:0000286
21 high, narrow palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0002705
22 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
23 atrial septal defect 59 32 hallmark (90%) Very frequent (99-80%) HP:0001631
24 sprengel anomaly 59 32 frequent (33%) Frequent (79-30%) HP:0000912
25 cachexia 59 32 hallmark (90%) Very frequent (99-80%) HP:0004326
26 short philtrum 59 32 frequent (33%) Frequent (79-30%) HP:0000322
27 hypospadias 59 32 frequent (33%) Frequent (79-30%) HP:0000047
28 clinodactyly of the 5th finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0004209
29 decreased testicular size 59 32 frequent (33%) Frequent (79-30%) HP:0008734
30 arachnodactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001166
31 narrow face 59 32 frequent (33%) Frequent (79-30%) HP:0000275
32 narrow mouth 59 32 occasional (7.5%) Occasional (29-5%),Very frequent (99-80%) HP:0000160
33 upslanted palpebral fissure 59 32 frequent (33%) Frequent (79-30%) HP:0000582
34 anal atresia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002023
35 round ear 59 32 frequent (33%) Frequent (79-30%) HP:0100830
36 long face 59 32 frequent (33%) Frequent (79-30%) HP:0000276
37 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
38 abnormality of the ribs 59 32 frequent (33%) Frequent (79-30%) HP:0000772
39 severe short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0003510
40 iris coloboma 59 32 occasional (7.5%) Occasional (29-5%) HP:0000612
41 prominent nose 59 32 frequent (33%) Frequent (79-30%) HP:0000448
42 cupped ear 59 32 hallmark (90%) Very frequent (99-80%) HP:0000378
43 broad columella 59 32 occasional (7.5%) Occasional (29-5%) HP:0010761
44 macrodontia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001572
45 thin eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0045074
46 abnormal hair laboratory examination 59 32 occasional (7.5%) Occasional (29-5%) HP:0003328
47 heterotaxy 59 32 occasional (7.5%) Occasional (29-5%) HP:0030853
48 high palate 32 HP:0000218
49 spasticity 32 HP:0001257
50 hyperreflexia 32 HP:0001347

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):

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

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 To Study the Efficacy and Safety of Renessans in Chronic HCV Patients Unknown status NCT01463592 Phase 3 Interferon Alfa-2b AND RIBAVIRIN
2 Genetic Disease Gene Identification Unknown status NCT00916903
3 Post Colposcopy Management of ASC-US and LSIL Pap Tests Completed NCT03466710 Not Applicable

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:

41
Testes, Eye, Heart, Skeletal Muscle, Brain

Publications for Renpenning Syndrome 1

Articles related to Renpenning Syndrome 1:

# 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 1

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

75
# Symbol AA change Variation ID SNP ID
1 PQBP1 p.Tyr65Cys VAR_071063 rs121917899

ClinVar genetic disease variations for Renpenning Syndrome 1:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 PQBP1 NM_001032383.1(PQBP1): c.461_462delAG (p.Glu154Alafs) deletion Pathogenic rs606231195 GRCh37 Chromosome X, 48759678: 48759679
2 PQBP1 NM_001032383.1(PQBP1): c.461_462dupAG (p.Arg155Serfs) duplication Pathogenic rs606231193 GRCh38 Chromosome X, 48902401: 48902402
3 PQBP1 NM_001032383.1(PQBP1): c.461_462dupAG (p.Arg155Serfs) duplication Pathogenic rs606231193 GRCh37 Chromosome X, 48759678: 48759679
4 PQBP1 NM_005710.2(PQBP1): c.459_462delAGAG (p.Arg153Serfs) deletion Pathogenic rs606231194 GRCh38 Chromosome X, 48902399: 48902402
5 PQBP1 NM_005710.2(PQBP1): c.459_462delAGAG (p.Arg153Serfs) deletion Pathogenic rs606231194 GRCh37 Chromosome X, 48759676: 48759679
6 PQBP1 NM_001032383.1(PQBP1): c.461_462delAG (p.Glu154Alafs) deletion Pathogenic rs606231195 GRCh38 Chromosome X, 48902401: 48902402
7 PQBP1 NM_005710.2(PQBP1): c.640dupC (p.Arg214Profs) duplication Pathogenic rs606231196 GRCh38 Chromosome X, 48902794: 48902794
8 PQBP1 NM_005710.2(PQBP1): c.640dupC (p.Arg214Profs) duplication Pathogenic rs606231196 GRCh37 Chromosome X, 48760071: 48760071
9 PQBP1 NM_001032383.1(PQBP1): c.547_569del23 (p.Glu183Glnfs) deletion Pathogenic rs606231197 GRCh38 Chromosome X, 48902487: 48902509
10 PQBP1 NM_001032383.1(PQBP1): c.547_569del23 (p.Glu183Glnfs) deletion Pathogenic rs606231197 GRCh37 Chromosome X, 48759764: 48759786
11 PQBP1 NM_005710.2(PQBP1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs121917899 GRCh37 Chromosome X, 48759221: 48759221
12 PQBP1 NM_005710.2(PQBP1): c.194A> G (p.Tyr65Cys) single nucleotide variant Pathogenic rs121917899 GRCh38 Chromosome X, 48901944: 48901944
13 PQBP1 NM_005710.2(PQBP1): c.450_453delCAGA (p.Asp150Glufs) deletion Pathogenic rs886044823 GRCh37 Chromosome X, 48759667: 48759670
14 PQBP1 NM_005710.2(PQBP1): c.450_453delCAGA (p.Asp150Glufs) deletion Pathogenic rs886044823 GRCh38 Chromosome X, 48902390: 48902393
15 PQBP1 NM_005710.2(PQBP1): c.-87C> T single nucleotide variant Likely benign rs150603792 GRCh37 Chromosome X, 48755706: 48755706
16 PQBP1 NM_005710.2(PQBP1): c.-87C> T single nucleotide variant Likely benign rs150603792 GRCh38 Chromosome X, 48898423: 48898423
17 PQBP1 NM_005710.2(PQBP1): c.585C> T (p.Ser195=) single nucleotide variant Likely benign rs149688357 GRCh37 Chromosome X, 48760016: 48760016
18 PQBP1 NM_005710.2(PQBP1): c.585C> T (p.Ser195=) single nucleotide variant Likely benign rs149688357 GRCh38 Chromosome X, 48902739: 48902739
19 PQBP1 NM_005710.2(PQBP1): c.-214A> G single nucleotide variant Uncertain significance rs1006576758 GRCh37 Chromosome X, 48755579: 48755579
20 PQBP1 NM_005710.2(PQBP1): c.-214A> G single nucleotide variant Uncertain significance rs1006576758 GRCh38 Chromosome X, 48898296: 48898296

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:

37
# Name Kegg Source Accession
1 Spliceosome hsa03040

Pathways related to Renpenning Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.25 FGF4 FGFR2

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 defense response to virus GO:0051607 9.54 CGAS IRF3 PQBP1
2 mitotic spindle organization GO:0007052 9.4 MECP2 STMN1
3 positive regulation of defense response to virus by host GO:0002230 9.32 CGAS PQBP1
4 activation of innate immune response GO:0002218 9.26 CGAS PQBP1
5 cellular response to exogenous dsRNA GO:0071360 9.16 CGAS PQBP1
6 positive regulation of type I interferon production GO:0032481 9.13 CGAS IRF3 PQBP1
7 neuron projection development GO:0031175 8.92 MECP2 OPHN1 PQBP1 STMN1

Molecular functions related to Renpenning Syndrome 1 according to GeneCards Suite gene sharing:

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

Sources for Renpenning Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
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54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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