MCID: RNP001
MIFTS: 48

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 50 11 24 13 52 12
Renpenning Syndrome 1 50 46 23 68 25 66
Sutherland-Haan X-Linked Mental Retardation Syndrome 46 23 68
Mrxs3 46 23 68
Mrxs8 46 23 68
Golabi-Ito-Hall Syndrome 24 68
Sutherland-Haan Syndrome 46 24
Rens1 46 68
Mrx55 23 68
X-Linked Intellectual Disability Due to Pqbp1 Mutations 52
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 24
Mental Retardation, X-Linked, with Spastic Diplegia 23
X-Linked Intellectual Disability, Renpenning Type 52
Mental Retardation X-Linked with Spastic Diplegia 68
X-Linked Mental Retardation with Spastic Diplegia 46
X-Linked Intellectual Deficit, Renpenning Type 24
Mental Retardation, X-Linked, Renpenning Type 23
 
Mental Retardation, X-Linked Renpenning Type 46
Mental Retardation X-Linked Renpenning Type 68
Pqbp1-Related Syndromic Mental Retardation 23
Mental Retardation, X-Linked, Syndromic 8 46
Pqbp1-Related X-Linked Mental Retardation 23
X-Linked Syndromic Mental Retardation 55 23
X-Linked Mental Retardation Syndromic 3 46
X-Linked Syndromic Mental Retardation 8 23
X-Linked Syndromic Mental Retardation 3 23
Mental Retardation X-Linked Syndromic 8 68
Mental Retardation X-Linked Syndromic 3 68
Hamel Cerebro-Palato-Cardiac Syndrome 52
Hamel Cerebropalatocardiac Syndrome 24
Mental Retardation X-Linked 55 68
Porteous Syndrome 24
Shs 68

Characteristics:

Orphanet epidemiological data:

52
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:

62
renpenning syndrome:
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM50 309500
Disease Ontology11 DOID:0060179
ICD10 via Orphanet29 Q87.5
MedGen35 C0796135
MeSH37 D038901

Summaries for Renpenning Syndrome

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Genetics Home Reference:24 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 neuroblastoma, and has symptoms including microcephaly, skeletal muscle atrophy and short stature. An important gene associated with Renpenning Syndrome is PQBP1 (Polyglutamine Binding Protein 1). Affiliated tissues include testes, eye and skeletal muscle.

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.

NIH Rare Diseases:46 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:68 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:50 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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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:

 52 (show all 14)
  • narrow mouth
  • cleft palate
  • microcephaly
  • malar flattening
  • micrognathia
  • cupped ear
  • bulbous nose
  • wide nasal bridge
  • arachnodactyly
  • intellectual disability
  • global developmental delay
  • death in infancy
  • defect in the atrial septum
  • short stature

HPO human phenotypes related to Renpenning Syndrome:

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

UMLS symptoms related to Renpenning Syndrome:


muscle spasticity

Drugs & Therapeutics for Renpenning Syndrome

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
RibavirinPhase 396836791-04-537542
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
KBio1_000782
KBio2_002328
KBio2_004896
KBio2_007464
KBio3_002854
KBioGR_001804
KBioSS_002331
KS-1104
LS-1241
Lopac0_001063
MLS000028486
MLS002222317
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)
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
2
IodinePhase 35167553-56-2807
Synonyms:
I2
Iode
Iodine-molecule
 
Iodio
Iodum
Jod
Jood
Tincture iodine
3interferonsPhase 32112
4cadexomer iodinePhase 3484

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 125 23 PQBP1

Anatomical Context for Renpenning Syndrome

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MalaCards organs/tissues related to Renpenning Syndrome:

34
Testes, Eye, Skeletal muscle, Heart, Bone, 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
The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. (20950397)
2011
2
Renpenning syndrome comes into focus. (15782410)
2005
3
Novel truncating mutations in the polyglutamine tract binding protein 1 gene (PQBP1) cause Renpenning syndrome and X-linked mental retardation in another family with microcephaly. (15024694)
2004
4
Renpenning syndrome maps to Xp11. (9545405)
1998
5
X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families). (3437266)
1987
6
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. (7328617)
1981
7
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). (6938131)
1980
8
Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome). (7188916)
1980

Variations for Renpenning Syndrome

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

68
id Symbol AA change Variation ID SNP ID
1PQBP1p.Tyr65CysVAR_071063rs121917899

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)deletionPathogenicrs606231194GRCh38Chr X, 48902399: 48902402
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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GO Terms for genes affiliated with Renpenning Syndrome

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Cellular components related to Renpenning Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1heterochromatinGO:00007929.8ATRX, MECP2

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

idNameGO IDScoreTop Affiliating Genes
1neuron projection developmentGO:00311759.6MECP2, PQBP1, STMN1

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

idNameGO IDScoreTop Affiliating Genes
1ionotropic glutamate receptor bindingGO:003525510.0DLG3, OPHN1

Sources for Renpenning Syndrome

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet