MCID: RNP001
MIFTS: 29

Renpenning Syndrome malady

Neuronal, Fetal categories

Summaries for Renpenning Syndrome

Sources:
8Disease Ontology, 21Genetics Home Reference, 47OMIM, 33MalaCards
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Genetics Home Reference:21 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: Renpenning Syndrome, also known as x-linked intellectual deficit due to pqbp1 mutations, is related to mental retardation and microcephaly, and has symptoms including microcephaly, intellectual deficit/mental/psychomotor retardation/learning disability and muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy. An important gene associated with Renpenning Syndrome is PQBP1 (polyglutamine binding protein 1). Affiliated tissues include skeletal muscle.

Disease Ontology:8 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.

Description from OMIM:47 309500

Aliases & Classifications for Renpenning Syndrome

Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 47OMIM, 49Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal
Anatomical: Neuronal


Characteristics (Orphanet epidemiological data):

49
renpenning syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal
hamel cerebro-palato-cardiac syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Normal


Aliases & Descriptions:

renpenning syndrome 8 9 21 47 49
x-linked intellectual deficit due to pqbp1 mutations 21 49
x-linked intellectual deficit, renpenning type 21 49
hamel cerebro-palato-cardiac syndrome 49
hamel cerebropalatocardiac syndrome 21
sutherland-haan syndrome 21
golabi-ito-hall syndrome 21
porteous syndrome 21


External Ids:

Disease Ontology8 DOID:0060179
OMIM47 309500
ICD10 via Orphanet26 Q87.5

Related Diseases for Renpenning Syndrome

Sources:
17GeneCards, 18GeneDecks
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Diseases in the Renpenning Syndrome family:

renpenning syndrome 1

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

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation30.6PQBP1
2microcephaly30.1PQBP1
3renpenning syndrome 110.5
4micro syndrome10.1
5developmental dyspraxia10.1
6short stature10.0PQBP1

Graphical network of diseases related to Renpenning Syndrome:



Diseases related to renpenning syndrome

Clinical Features for Renpenning Syndrome

Sources:
47OMIM, 49Orphanet
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Clinical features from OMIM:

309500

Clinical synopsis from OMIM:

309500

Symptoms:

49 (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

Drugs & Therapeutics for Renpenning Syndrome

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

Search CenterWatch for Renpenning Syndrome

Drug clinical trials:

Search ClinicalTrials for Renpenning Syndrome

Search NIH Clinical Center for Renpenning Syndrome

Search CenterWatch for Renpenning Syndrome

Genetic Tests for Renpenning Syndrome

Anatomical Context for Renpenning Syndrome

Sources:
33MalaCards
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MalaCards organs/tissues related to Renpenning Syndrome:

33
Skeletal muscle

Animal Models for Renpenning Syndrome or affiliated genes

Sources:
28inGenious Targeting Laboratory
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Publications for Renpenning Syndrome

Sources:
51PubMed
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Articles related to Renpenning Syndrome:

idTitleAuthorsYear
1
Whole gene duplication of the PQBP1 gene in syndrome resembling Renpenning. (21204222)
2011
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
10
&quot;Renpenning&quot; syndrome. (4194960)
1970

Genetic Variations for Renpenning Syndrome

Expression for genes affiliated with Renpenning Syndrome

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Renpenning Syndrome

Search GEO for disease gene expression data for Renpenning Syndrome.

Pathways for genes affiliated with Renpenning Syndrome

Compounds for genes affiliated with Renpenning Syndrome

GO Terms for genes affiliated with Renpenning Syndrome

Products for genes affiliated with Renpenning Syndrome

  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renpenning Syndrome

3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet