MCID: RNP001
MIFTS: 35

Renpenning Syndrome malady

Neuronal diseases, Fetal diseases categories

Summaries for Renpenning Syndrome

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8Disease Ontology, 21Genetics Home Reference, 46OMIM, 32MalaCards
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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 microcephaly and renpenning syndrome 1, and has symptoms including micrognathia/retrognathia/micrognathism/retrognathism, imperforate anus/rectum atresia/agenesis/recto-vaginal/vesical/perineal fistula and congenital cardiac anomaly/malformation/cardiopathy. An important gene associated with Renpenning Syndrome is PQBP1 (polyglutamine binding protein 1). Affiliated tissues include testes, skeletal muscle and eye.

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:46 309500

Aliases & Classifications for Renpenning Syndrome

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Sources:
8Disease Ontology, 9diseasecard, 21Genetics Home Reference, 46OMIM, 48Orphanet, 26ICD10 via Orphanet
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Classifications:

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


Characteristics (Orphanet epidemiological data):

48
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 46 48
x-linked intellectual deficit due to pqbp1 mutations 21 48
x-linked intellectual deficit, renpenning type 21 48
hamel cerebro-palato-cardiac syndrome 48
hamel cerebropalatocardiac syndrome 21
sutherland-haan syndrome 21
golabi-ito-hall syndrome 21
porteous syndrome 21


External Ids:

Disease Ontology8 DOID:0060179
OMIM46 309500
ICD10 via Orphanet26 Q87.5

Related Diseases for Renpenning Syndrome

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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
1microcephaly30.1PQBP1
2renpenning syndrome 110.5
3fragile x syndrome10.1
4short stature10.0PQBP1
5mental retardation10.0PQBP1

Graphical network of diseases related to Renpenning Syndrome:



Diseases related to renpenning syndrome

Clinical Features for Renpenning Syndrome

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

309500

Clinical synopsis from OMIM:

309500

Symptoms:

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

Drugs & Therapeutics for Renpenning Syndrome

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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Approved drugs:

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Drug clinical trials:

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Genetic Tests for Renpenning Syndrome

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Anatomical Context for Renpenning Syndrome

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Sources:
32MalaCards
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MalaCards organs/tissues related to Renpenning Syndrome:

32
Testes, Skeletal muscle, Eye, Colon, Bone

Animal Models for Renpenning Syndrome or affiliated genes

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Publications for Renpenning Syndrome

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Sources:
50PubMed
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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

Genetic Variations for Renpenning Syndrome

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Expression for genes affiliated with Renpenning Syndrome

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

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Pathways for genes affiliated with Renpenning Syndrome

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Compounds for genes affiliated with Renpenning Syndrome

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GO Terms for genes affiliated with Renpenning Syndrome

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Products for genes affiliated with Renpenning Syndrome

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Renpenning Syndrome

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet