Renpenning Syndrome malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Mental diseases categories

Aliases & Classifications for Renpenning Syndrome

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Aliases & Descriptions for Renpenning Syndrome:

Name: Renpenning Syndrome 46 8 9 42 21 48
Renpenning Syndrome 1 42 20 22 61
X-Linked Intellectual Disability Due to Pqbp1 Mutations 42 48
X-Linked Intellectual Disability, Renpenning Type 42 48
Sutherland-Haan Syndrome 42 21
Sutherland-Haan X-Linked Mental Retardation Syndrome 42
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 21
X-Linked Mental Retardation with Spastic Diplegia 42
X-Linked Intellectual Deficit, Renpenning Type 21
Mental Retardation, X-Linked Renpenning Type 42
Mental Retardation, X-Linked, Syndromic 8 42
X-Linked Mental Retardation Syndromic 3 42
Hamel Cerebro-Palato-Cardiac Syndrome 48
Hamel Cerebropalatocardiac Syndrome 21
Golabi-Ito-Hall Syndrome 21
Porteous Syndrome 21
Rens1 42
Mrxs8 42
Mrxs3 42


Characteristics (Orphanet epidemiological data):

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

External Ids:

OMIM46 309500
Disease Ontology8 DOID:0060179
Orphanet48 3242, 93946
ICD10 via Orphanet26 Q87.5

Summaries for Renpenning Syndrome

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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 based summary: Renpenning Syndrome, also known as renpenning syndrome 1, is related to mental retardation and microcephaly, and has symptoms including microcephaly, amyotrophy 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: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.

NIH Rare Diseases:42 Renpenning syndrome is an inherited x-linked mental retardation condition which most often presents in males. it is characterized by small head size (microcephaly), long narrow face, short stature, small testes, and intellectual deficit. renpenning syndrome is caused by mutations in the polyglutamine tract binding protein 1 gene (pqbp1). treatment is symptomatic and supportive. in 2005, it was proposed that the various x-linked mental retardation syndromes with pqbp1 mutations be combined under the name of renpenning syndrome. last updated: 8/20/2009

OMIM:46 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:

idRelated DiseaseScoreTop Affiliating Genes
1mental retardation10.5
3developmental dyspraxia10.1

Symptoms for Renpenning Syndrome

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:



 48 (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 104)
id Description Frequency HPO Source Accession
1 microcephaly hallmark (90%) HP:0000252
2 amyotrophy 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 defect in the atrial septum 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 cheekbone underdevelopment 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 defect in the atrial septum 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 microphthalmos 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 x-linked recessive inheritance HP:0001419
85 abnormality of the rib cage HP:0001547
86 nasal speech HP:0001611
87 ventricular septal defect HP:0001629
88 defect in the atrial septum HP:0001631
89 tetralogy of fallot HP:0001636
90 situs inversus totalis HP:0001696
91 phimosis HP:0001741
92 pes cavus HP:0001761
93 narrow foot HP:0001786
94 anal atresia HP:0002023
95 poor suck HP:0002033
96 cerebral atrophy HP:0002059
97 scoliosis HP:0002650
98 clinodactyly of the 5th finger HP:0004209
99 short stature HP:0004322
100 sparse lateral eyebrow HP:0005338
101 sparse hair HP:0008070
102 decreased testicular size HP:0008734
103 joint contracture of the hand HP:0009473
104 camptodactyly HP:0012385

Drugs & Therapeutics for Renpenning Syndrome

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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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Genetic tests related to Renpenning Syndrome:

id Genetic test Affiliating Genes
1 Renpenning Syndrome 120 22 PQBP1

Anatomical Context for Renpenning Syndrome

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MalaCards organs/tissues related to Renpenning Syndrome:

Testes, Eye, Skeletal muscle, 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:

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1-mutated males. (20950397)
Renpenning syndrome comes into focus. (15782410)
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)
Renpenning syndrome maps to Xp11. (9545405)
X-linked mental retardation. II. Renpenning syndrome and other types (report of 14 families). (3437266)
The 'fragile' X chromosome in the Martin-Bell-Renpenning syndrome and in males with other forms of familial mental retardation. (7328617)
Significance of phenotypic and chromosomal abnormalities in X-linked mental retardation (Martin-Bell or Renpenning syndrome). (6938131)
Developmental dyspraxia in a family with X-linked mental retardation (Renpenning syndrome). (7188916)

Variations for Renpenning Syndrome

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

id Symbol AA change Variation ID SNP ID

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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Compounds for genes affiliated with Renpenning Syndrome

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GO Terms for genes affiliated with Renpenning Syndrome

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Sources for Renpenning Syndrome

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26ICD10 via Orphanet
34MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet