MCID: RNP001
MIFTS: 34

Renpenning Syndrome malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories
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Summaries for Renpenning Syndrome

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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 disability due to pqbp1 mutations, is related to renpenning syndrome 1 and mental retardation, and has symptoms including round ear, external ear anomalies and coloboma of iris. An important gene associated with Renpenning Syndrome is PQBP1 (polyglutamine binding protein 1). Affiliated tissues include testes, bone and colon.

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

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



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 disability due to pqbp1 mutations 49
x-linked intellectual deficit due to pqbp1 mutations 21
x-linked intellectual disability, renpenning type 49
x-linked intellectual deficit, renpenning type 21
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

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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
1renpenning syndrome 110.6
2mental retardation10.5
3microcephaly10.1
4developmental dyspraxia10.1

Symptoms for Renpenning Syndrome

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Sources:
47OMIM, 49Orphanet
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Symptoms by clinical synopsis from OMIM:

309500

Clinical features from OMIM:

309500

Symptoms:

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

Drugs & Therapeutics for Renpenning Syndrome

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Sources:
42NIH Clinical Center, 6ClinicalTrials
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Drug clinical trials:

Search ClinicalTrials for Renpenning Syndrome

Search NIH Clinical Center for Renpenning Syndrome

Genetic Tests for Renpenning Syndrome

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Anatomical Context for Renpenning Syndrome

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33MalaCards
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MalaCards organs/tissues related to Renpenning Syndrome:

33
Testes, Bone, Colon

Animal Models for Renpenning Syndrome or affiliated genes

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Publications for Renpenning Syndrome

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Sources:
52PubMed
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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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Expression for genes affiliated with Renpenning Syndrome

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Sources:
2BioGPS, 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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4CDC
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
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet