MCID: RNP001
MIFTS: 46

Renpenning Syndrome malady

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

Aliases & Classifications for Renpenning Syndrome

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Aliases & Descriptions for Renpenning Syndrome:

Name: Renpenning Syndrome 49 10 11 23 12 51
Renpenning Syndrome 1 45 22 67 24 65
Sutherland-Haan X-Linked Mental Retardation Syndrome 45 22 67
Mrxs3 45 22 67
Mrxs8 45 22 67
Sutherland-Haan Syndrome 45 23
Golabi-Ito-Hall Syndrome 23 67
Rens1 45 67
Mrx55 22 67
X-Linked Intellectual Disability Due to Pqbp1 Mutations 51
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 23
Mental Retardation, X-Linked, with Spastic Diplegia 22
X-Linked Intellectual Disability, Renpenning Type 51
X-Linked Mental Retardation with Spastic Diplegia 45
Mental Retardation X-Linked with Spastic Diplegia 67
X-Linked Intellectual Deficit, Renpenning Type 23
Mental Retardation, X-Linked, Renpenning Type 22
 
Mental Retardation, X-Linked Renpenning Type 45
Mental Retardation X-Linked Renpenning Type 67
Pqbp1-Related Syndromic Mental Retardation 22
Pqbp1-Related X-Linked Mental Retardation 22
Mental Retardation, X-Linked, Syndromic 8 45
X-Linked Syndromic Mental Retardation 55 22
X-Linked Mental Retardation Syndromic 3 45
X-Linked Syndromic Mental Retardation 8 22
X-Linked Syndromic Mental Retardation 3 22
Mental Retardation X-Linked Syndromic 8 67
Mental Retardation X-Linked Syndromic 3 67
Hamel Cerebro-Palato-Cardiac Syndrome 51
Hamel Cerebropalatocardiac Syndrome 23
Mental Retardation X-Linked 55 67
Porteous Syndrome 23
Shs 67

Characteristics:

Orphanet epidemiological data:

51
renpenning syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
hamel cerebro-palato-cardiac syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy

HPO:

61
renpenning syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 309500
Disease Ontology10 DOID:0060179
Orphanet51 3242, 93946
ICD10 via Orphanet28 Q87.5
MedGen34 C0796135
MeSH36 D038901
UMLS65 C0796135

Summaries for Renpenning Syndrome

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Genetics Home Reference:23 Renpenning syndrome is a disorder that almost exclusively affects males, causing developmental delay, moderate to severe intellectual disability, and distinctive physical features. Individuals with Renpenning syndrome typically have short stature and a small head size (microcephaly). Facial features characteristic of this disorder include a long, narrow face; outside corners of the eyes that point upward (upslanting palpebral fissures); a long, bulbous nose with a low-hanging separation between the nostrils (overhanging columella); a shortened space between the nose and mouth (philtrum); and cup-shaped ears. Males with Renpenning syndrome generally have small testes. Seizures and wasting away (atrophy) of muscles used for movement (skeletal muscles) may also occur in this disorder.

MalaCards based summary: Renpenning Syndrome, also known as renpenning syndrome 1, is related to arthrogryposis, distal, type 2b and mental retardation-hypotonic facies syndrome, x-linked, and has symptoms including cognitive impairment, decreased body weight and short stature. An important gene associated with Renpenning Syndrome is PQBP1 (Polyglutamine Binding Protein 1), and among its related pathways is Vemurafenib Pathway, Pharmacodynamics. Affiliated tissues include testes, eye and skeletal muscle.

Disease Ontology:10 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:45 Renpenning syndrome is a genetic condition which occurs mostly in males. signs and symptoms include the following: developmental delay, a small head (microcephaly), short stature, and distinctive facial features. approximately two-thirds of individuals with renpenning syndrome have moderate to severe intellectual disability. additional features may include heart defects, muscular atrophy, cleft palate, and eye abnormalities. renpenning syndrome is caused by mutations in the pqbp1 gene and is inherited in an x-linked recessive manner. management involves early intervention by trained therapists along with treatment of any associated features. last updated: 2/3/2016

UniProtKB/Swiss-Prot:67 Renpenning syndrome 1: A X-linked mental retardation syndrome characterized by mental retardation, microcephaly, short stature, and small testes. The craniofacies tends to be narrow and tall with upslanting palpebral fissures, abnormal nasal configuration, cupped ears, and short philtrum. The nose may appear long or bulbous, with overhanging columella. Less consistent manifestations include ocular colobomas, cardiac malformations, cleft palate, and anal anomalies.

OMIM:49 Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected... (309500) more...

Related Diseases for Renpenning Syndrome

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

(show all 39)
idRelated DiseaseScoreTop Affiliating Genes
1arthrogryposis, distal, type 2b11.8
2mental retardation-hypotonic facies syndrome, x-linked10.3ATRX, PQBP1
3wilson-turner syndrome10.3ATRX, PQBP1
4cystic fibrosis10.2
5bannayan-riley-ruvalcaba syndrome10.2
6hemophilia a10.2
7respiratory failure10.2
8adenosquamous carcinoma10.2
9pancreatitis10.2
10hemophilia10.2
11acquired hemophilia10.2
12acquired hemophilia a10.2
13ciguatera fish poisoning10.2
14ruvalcaba syndrome10.2
15vascular malformation10.2
16glomerulonephritis10.2
17endotheliitis10.2
18alpha-thalassemia myelodysplasia syndrome, somatic10.2ATRX, PQBP1
19salt and pepper syndrome10.2FGFR2, STMN1
20non-syndromic intellectual disability10.2ATRX, PQBP1
21lymphoma10.1
22tuberculosis10.1
23rhinitis10.1
24lung cancer10.1
25hepatocellular carcinoma10.1
26asthma10.1
27breast cancer10.1
28hypertriglyceridemia10.1
29hepatitis10.1
30chlamydia10.1
31prostatitis10.1
32synucleinopathy10.0DLG3, OPHN1
33atypical autism9.9DLG3, MECP2, OPHN1
34antley-bixler syndrome without genital anomalies or disordered steroidogenesis9.9FGF4, FGFR2
35intracranial hemorrhage in brain cerebrovascular malformations9.8FGF4, FGFR2, IRF3
36autoimmune disease of skin and connective tissue9.7ATRX, DLG3, MECP2, OPHN1, PQBP1
37opitz-gbbb syndrome9.7ATRX, DLG3, MECP2, OPHN1, PQBP1
38olmsted syndrome, x-linked9.3ATRX, DLG3, MECP2, OPHN1, PQBP1, SLC16A2
39tarp syndrome6.9ATRX, CDX4, DLG3, FGF4, FGFR2, IRF3

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



Diseases related to renpenning syndrome

Symptoms for Renpenning Syndrome

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Symptoms by clinical synopsis from OMIM:

309500

Clinical features from OMIM:

309500

Symptoms:

 51 (show all 50)
  • microcephaly
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • x-linked recessive inheritance
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • short stature/dwarfism/nanism
  • brachycephaly/flat occiput
  • narrow face
  • triangular face
  • long face
  • small face
  • upslanted palpebral fissures/mongoloid slanting palpebral fissures
  • flat cheek bones/malar hypoplasia
  • prognathism/prognathia
  • absent/decreased/thin eyebrows
  • epicanthic folds
  • long/large/bulbous nose
  • short philtrum
  • long/large ear
  • round ear
  • scapula structural/position anomaly/congenital elevation/sprengel anomaly
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • hypertonia/spasticity/rigidity/stiffness
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • coloboma of iris
  • cataract/lens opacification
  • hypermetropia
  • strabismus/squint
  • thick columella
  • microstomia/little mouth
  • high vaulted/narrow palate
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • complete/partial macrodontia
  • sensorineural deafness/hearing loss
  • pectus excavatum
  • clinodactyly of fifth finger
  • thumb anomalies (excluding hypoplasia)
  • brittle hair/distrix/trichorrhexis
  • situs inversus visceralis/colon/intestine trasposition/heterotaxia
  • imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula
  • congenital cardiac anomaly/malformation/cardiopathy
  • atrial septal defect/interauricular communication
  • hypospadias/epispadias/bent penis
  • diabetes mellitus
  • seizures/epilepsy/absences/spasms/status epilepticus
  • restricted joint mobility/joint stiffness/ankylosis
  • micrognathia/retrognathia/micrognathism/retrognathism
  • external ear anomalies
  • death in infancy

HPO human phenotypes related to Renpenning Syndrome:

(show all 103)
id Description Frequency HPO Source Accession
1 cognitive impairment hallmark (90%) HP:0100543
2 decreased body weight hallmark (90%) HP:0004325
3 short stature hallmark (90%) HP:0004322
4 skeletal muscle atrophy hallmark (90%) HP:0003202
5 microcephaly hallmark (90%) HP:0000252
6 narrow mouth hallmark (90%) HP:0000160
7 cleft palate hallmark (90%) HP:0000175
8 micrognathia hallmark (90%) HP:0000347
9 atria septal defect hallmark (90%) HP:0001631
10 abnormal nasal morphology hallmark (90%) HP:0005105
11 external ear malformation hallmark (90%) HP:0008572
12 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
13 round ear typical (50%) HP:0100830
14 abnormal hair quantity typical (50%) HP:0011362
15 hypoplasia of the zygomatic bone typical (50%) HP:0010669
16 abnormal nasal morphology typical (50%) HP:0005105
17 abnormality of calvarial morphology typical (50%) HP:0002648
18 hypertonia typical (50%) HP:0001276
19 sprengel anomaly typical (50%) HP:0000912
20 upslanted palpebral fissure typical (50%) HP:0000582
21 macrotia typical (50%) HP:0000400
22 triangular face typical (50%) HP:0000325
23 short philtrum typical (50%) HP:0000322
24 mandibular prognathia typical (50%) HP:0000303
25 epicanthus typical (50%) HP:0000286
26 long face typical (50%) HP:0000276
27 narrow face typical (50%) HP:0000275
28 abnormality of the testis typical (50%) HP:0000035
29 displacement of the external urethral meatus occasional (7.5%) HP:0100627
30 urogenital fistula occasional (7.5%) HP:0100589
31 broad columella occasional (7.5%) HP:0010761
32 abnormality of hair texture occasional (7.5%) HP:0010719
33 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
34 abdominal situs inversus occasional (7.5%) HP:0003363
35 atria septal defect occasional (7.5%) HP:0001631
36 macrodontia occasional (7.5%) HP:0001572
37 limitation of joint mobility occasional (7.5%) HP:0001376
38 seizures occasional (7.5%) HP:0001250
39 abnormality of the thumb occasional (7.5%) HP:0001172
40 diabetes mellitus occasional (7.5%) HP:0000819
41 pectus excavatum occasional (7.5%) HP:0000767
42 iris coloboma occasional (7.5%) HP:0000612
43 hypermetropia occasional (7.5%) HP:0000540
44 cataract occasional (7.5%) HP:0000518
45 strabismus occasional (7.5%) HP:0000486
46 sensorineural hearing impairment occasional (7.5%) HP:0000407
47 cleft palate occasional (7.5%) HP:0000175
48 narrow mouth occasional (7.5%) HP:0000160
49 microphthalmia rare (5%) HP:0000568
50 renal hypoplasia rare (5%) HP:0000089
51 camptodactyly HP:0012385
52 joint contracture of the hand HP:0009473
53 decreased testicular size HP:0008734
54 sparse hair HP:0008070
55 sparse lateral eyebrow HP:0005338
56 short stature HP:0004322
57 clinodactyly of the 5th finger HP:0004209
58 scoliosis HP:0002650
59 cerebral atrophy HP:0002059
60 poor suck HP:0002033
61 anal atresia HP:0002023
62 narrow foot HP:0001786
63 pes cavus HP:0001761
64 phimosis HP:0001741
65 situs inversus totalis HP:0001696
66 tetralogy of fallot HP:0001636
67 atria septal defect HP:0001631
68 ventricular septal defect HP:0001629
69 nasal speech HP:0001611
70 abnormality of the rib cage HP:0001547
71 hyperreflexia HP:0001347
72 spasticity HP:0001257
73 seizures HP:0001250
74 intellectual disability HP:0001249
75 pectus excavatum HP:0000767
76 anxiety HP:0000739
77 blindness HP:0000618
78 coloboma HP:0000589
79 upslanted palpebral fissure HP:0000582
80 hypermetropia HP:0000540
81 cataract HP:0000518
82 strabismus HP:0000486
83 wide nasal bridge HP:0000431
84 bulbous nose HP:0000414
85 protruding ear HP:0000411
86 macrotia HP:0000400
87 cupped ear HP:0000378
88 hearing impairment HP:0000365
89 micrognathia HP:0000347
90 triangular face HP:0000325
91 short philtrum HP:0000322
92 mandibular prognathia HP:0000303
93 epicanthus HP:0000286
94 long face HP:0000276
95 narrow face HP:0000275
96 malar flattening HP:0000272
97 microcephaly HP:0000252
98 brachycephaly HP:0000248
99 thin upper lip vermilion HP:0000219
100 high palate HP:0000218
101 cleft palate HP:0000175
102 narrow mouth HP:0000160
103 hypospadias HP:0000047

Drugs & Therapeutics for Renpenning Syndrome

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

(show all 10)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RibavirinapprovedPhase 394836791-04-537542
Synonyms:
1-.beta.-D-Ribofuranosyl-1,2,4-triazolo-3-carboxamide
1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1,2,4-triazole-3-carboxamide
1-[(2R,3R,4S,5R)-3,4-dihydroxy-5-(hydroxymethyl)oxolan-2-yl]-1H-1,2,4-triazole-3-carboxamide
1-beta-D-Ribofuranosyl-1,2,4-triazole-3-carboxamide
1-beta-D-Ribofuranosyl-1H-1,2,4-triazole-3-carboxamide
1-beta-D-ribofuranosyl-1-H-1,2,4-triazole-3-carboxamide
36791-04-5
437710-49-1
66510-90-5
AA-504/07617051
AB00430481
AC1L1XXZ
AC1Q1IDC
AC1Q4ZGS
AKOS001715163
BB_NC-0567
BPBio1_001195
BRN 0892462
BSPBio_001085
BSPBio_003352
C-Virin
CHEMBL1643
CID37542
Copegus
Copegus (TN)
Cotronak
D00423
DB00811
DRG-0028
DivK1c_000782
Drug: Ribavirin
EU-0101063
FT-0082885
HMS2090L15
HMS2094O09
HMS502H04
HSDB 6513
ICN-1229
IDI1_000782
Ibavyr
KBio1_000782
KBio2_002328
KBio2_004896
KBio2_007464
KBio3_002854
KBioGR_001804
KBioSS_002331
KS-1104
LS-1241
Lopac0_001063
MLS000028486
MLS002222317
Moderiba
MolPort-002-507-104
MolPort-002-885-856
NCGC00090726-01
NCGC00090726-03
NCGC00090726-04
NCGC00090726-05
NCGC00090726-06
NCGC00090726-07
NINDS_000782
 
NSC 163039
NSC163039
Prestwick3_000993
R 9644
R-964
R9644_SIGMA
RBV
RG-964
RIBAV
RTC
RTCA
RTP
Ravanex
Rebetol
Rebetol (TN)
Rebetron
Rebretron
Ribacine
Ribamide
Ribamidil
Ribamidyl
Ribasphere
Ribasphere (TN)
Ribasphere Ribapak
Ribav
Ribavirin
Ribavirin (JAN/USP/INN)
Ribavirin Capsules
Ribavirin Triphosphate
Ribavirin [USAN:INN]
Ribavirin-TP
Ribavirina
Ribavirina [INN-Spanish]
Ribavirine
Ribavirine [INN-French]
Ribavirinum
Ribavirinum [INN-Latin]
Ribovirin
Ro 20-9963/000
Ro-20-9963
S2504_Selleck
SCH 18908
SMP1_000261
SMR000058315
SPECTRUM1503938
SR-01000076112-3
Spectrum3_001876
Spectrum4_001252
Spectrum5_002075
Spectrum_001826
Tribavirin
UNII-49717AWG6K
Varazid
Vilona
Viramid
Viramide
Virazid
Virazide
Virazole
Virazole (Ribavirin) Inhalation Solution
Virazole (TN)
Virazole 5'-triphosphate
ZINC01035331
ribavirin
2interferonsPhase 31930
3
IodinePhase 34947553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
4Interferon-alphaPhase 31028
5Immunologic FactorsPhase 318483
6AntimetabolitesPhase 39454
7Anti-Infective AgentsPhase 317220
8Antiviral AgentsPhase 38071
9cadexomer iodinePhase 3456
10AstragalusNutraceutical48

Interventional clinical trials:

idNameStatusNCT IDPhase
1To Study the Efficacy and Safety of Renessans in Chronic HCV PatientsActive, not recruitingNCT01463592Phase 3
2Genetic Disease Gene IdentificationEnrolling by invitationNCT00916903

Search NIH Clinical Center for Renpenning Syndrome

Genetic Tests for Renpenning Syndrome

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Genetic tests related to Renpenning Syndrome:

id Genetic test Affiliating Genes
1 Renpenning Syndrome 122 PQBP1

Anatomical Context for Renpenning Syndrome

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MalaCards organs/tissues related to Renpenning Syndrome:

33
Testes, Eye, Skeletal muscle, Heart, Bone, Colon, Testis

Animal Models for Renpenning Syndrome or affiliated genes

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Publications for Renpenning Syndrome

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Articles related to Renpenning Syndrome:

idTitleAuthorsYear
1
Interactions of miR-34b/c and TP-53 polymorphisms on the risk of nasopharyngeal carcinoma. (23504554)
2013
2
Oncoprotein HCCR-1 expression in breast cancer is well correlated with known breast cancer prognostic factors including the HER2 overexpression, p53 mutation, and ER/PR status. (19208263)
2009
3
Nuclear transport of Ras-associated tumor suppressor proteins: different transport receptor binding specificities for arginine-rich nuclear targeting signals. (17320110)
2007
4
Stimulation of the Ras-MAPK pathway leads to independent phosphorylation of histone H3 on serine 10 and 28. (15735677)
2005
5
Origin and evolution of the archaeo-eukaryotic primase superfamily and related palm-domain proteins: structural insights and new members. (16027112)
2005
6
The effect of triamcinolone, montelukast and formoterol on serum levels of il-4, IgE and clinical parameters in children with asthma]. (11761821)
2001
7
Inhibin: definition and nomenclature, including related substances. (3345731)
1988
8
Membrane concentration of infectious bovine rhinotracheitis virus from water. (4375434)
1974

Variations for Renpenning Syndrome

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

67
id Symbol AA change Variation ID SNP ID
1PQBP1p.Tyr65CysVAR_071063

Clinvar genetic disease variations for Renpenning Syndrome:

5
id Gene Variation Type Significance SNP ID Assembly Location
1PQBP1NM_001032383.1(PQBP1): c.461_462dupAG (p.Arg155Serfs)duplicationPathogenicrs606231193GRCh38Chr X, 48902401: 48902402
2PQBP1NM_001032383.1(PQBP1): c.459_462delAGAG (p.Arg153Serfs)deletionPathogenicrs606231194GRCh37Chr X, 48759676: 48759679
3PQBP1NM_001032383.1(PQBP1): c.461_462delAG (p.Glu154Alafs)deletionPathogenicrs606231195GRCh38Chr X, 48902401: 48902402
4PQBP1NM_005710.2(PQBP1): c.640dupC (p.Arg214Profs)duplicationPathogenicrs606231196GRCh38Chr X, 48902794: 48902794
5PQBP1NM_001032383.1(PQBP1): c.547_569del23 (p.Glu183Glnfs)deletionPathogenicrs606231197GRCh38Chr X, 48902487: 48902509
6PQBP1NM_001032383.1(PQBP1): c.334_354del21 (p.Gly113_Arg119del)deletionPathogenicrs606231198GRCh38Chr X, 48902274: 48902294
7PQBP1NM_005710.2(PQBP1): c.194A> G (p.Tyr65Cys)single nucleotide variantPathogenicrs121917899GRCh37Chr X, 48759221: 48759221

Expression for genes affiliated with Renpenning Syndrome

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Search GEO for disease gene expression data for Renpenning Syndrome.

Pathways for genes affiliated with Renpenning Syndrome

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

idSuper pathwaysScoreTop Affiliating Genes
19.6FGF4, FGFR2

GO Terms for genes affiliated with Renpenning Syndrome

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

idNameGO IDScoreTop Affiliating Genes
1positive regulation of cell divisionGO:00517819.9FGF4, FGFR2
2negative regulation of transcription from RNA polymerase II promoterGO:00001228.8CDX4, FGFR2, IRF3, MECP2

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

idNameGO IDScoreTop Affiliating Genes
1protein domain specific bindingGO:00199049.9DLG3, MECP2

Sources for Renpenning Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet