Renpenning Syndrome malady

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

Summaries for Renpenning Syndrome

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Genetics Home Reference:22 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 x-linked intellectual deficit due to pqbp1 mutations, is related to renpenning syndrome 1 and mental retardation, 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:9 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.

OMIM:46 Renpenning syndrome is an X-linked mental retardation syndrome with clinically recognizable features. Affected... (309500) more...

Aliases & Classifications for Renpenning Syndrome

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Renpenning Syndrome, Aliases & Descriptions:

Name: Renpenning Syndrome 9 10 22 46 48 61
X-Linked Intellectual Deficit Due to Pqbp1 Mutations 22 61
Hamel Cerebropalatocardiac Syndrome 22 61
Sutherland-Haan Syndrome 22 61
Golabi-Ito-Hall Syndrome 22 61
Porteous Syndrome 22 61
X-Linked Intellectual Disability Due to Pqbp1 Mutations 48
X-Linked Intellectual Disability, Renpenning Type 48
X-Linked Intellectual Deficit, Renpenning Type 22
Hamel Cerebro-Palato-Cardiac Syndrome 48


Characteristics (Orphanet epidemiological data):

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

External Ids:

Disease Ontology9 DOID:0060179
OMIM46 309500
ICD10 via Orphanet27 Q87.5

Related Diseases for Renpenning Syndrome

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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 retardation10.4
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
  • micrognathia/retrognathia/micrognathism/retrognathism
  • long/large/bulbous nose
  • microstomia/little mouth
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • external ear anomalies
  • atrial septal defect/interauricular communication
  • death in infancy
  • 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
  • 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
  • high vaulted/narrow palate
  • 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
  • hypospadias/epispadias/bent penis
  • diabetes mellitus
  • seizures/epilepsy/absences/spasms/status epilepticus
  • restricted joint mobility/joint stiffness/ankylosis

HPO human phenotypes related to Renpenning Syndrome:

(show all 107)
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 microcephaly hallmark (90%) HP:0000252
9 micrognathia hallmark (90%) HP:0000347
10 defect in the atrial septum hallmark (90%) HP:0001631
11 short stature hallmark (90%) HP:0004322
12 abnormal nasal morphology hallmark (90%) HP:0005105
13 external ear malformation hallmark (90%) HP:0008572
14 cognitive impairment hallmark (90%) HP:0100543
15 abnormality of the testis typical (50%) HP:0000035
16 narrow face typical (50%) HP:0000275
17 long face typical (50%) HP:0000276
18 epicanthus typical (50%) HP:0000286
19 mandibular prognathia typical (50%) HP:0000303
20 short philtrum typical (50%) HP:0000322
21 triangular face typical (50%) HP:0000325
22 macrotia typical (50%) HP:0000400
23 upslanted palpebral fissure typical (50%) HP:0000582
24 sprengel anomaly typical (50%) HP:0000912
25 hypertonia typical (50%) HP:0001276
26 abnormality of calvarial morphology typical (50%) HP:0002648
27 abnormal nasal morphology typical (50%) HP:0005105
28 cheekbone underdevelopment typical (50%) HP:0010669
29 abnormal hair quantity typical (50%) HP:0011362
30 round ear typical (50%) HP:0100830
31 aplasia/hypoplasia of the eyebrow typical (50%) HP:0100840
32 narrow mouth occasional (7.5%) HP:0000160
33 cleft palate occasional (7.5%) HP:0000175
34 sensorineural hearing impairment occasional (7.5%) HP:0000407
35 strabismus occasional (7.5%) HP:0000486
36 cataract occasional (7.5%) HP:0000518
37 hypermetropia occasional (7.5%) HP:0000540
38 iris coloboma occasional (7.5%) HP:0000612
39 pectus excavatum occasional (7.5%) HP:0000767
40 diabetes mellitus occasional (7.5%) HP:0000819
41 abnormality of the thumb occasional (7.5%) HP:0001172
42 seizures occasional (7.5%) HP:0001250
43 limitation of joint mobility occasional (7.5%) HP:0001376
44 macrodontia occasional (7.5%) HP:0001572
45 defect in the atrial septum occasional (7.5%) HP:0001631
46 abdominal situs inversus occasional (7.5%) HP:0003363
47 clinodactyly of the 5th finger occasional (7.5%) HP:0004209
48 abnormality of hair texture occasional (7.5%) HP:0010719
49 broad columella occasional (7.5%) HP:0010761
50 urogenital fistula occasional (7.5%) HP:0100589
51 displacement of the external urethral meatus occasional (7.5%) HP:0100627
52 renal hypoplasia rare (5%) HP:0000089
53 microphthalmos rare (5%) HP:0000568
54 hypospadias HP:0000047
55 narrow mouth HP:0000160
56 cleft palate HP:0000175
57 high palate HP:0000218
58 thin upper lip vermilion HP:0000219
59 brachycephaly HP:0000248
60 microcephaly HP:0000252
61 malar flattening HP:0000272
62 narrow face HP:0000275
63 long face HP:0000276
64 epicanthus HP:0000286
65 mandibular prognathia HP:0000303
66 short philtrum HP:0000322
67 triangular face HP:0000325
68 micrognathia HP:0000347
69 hearing impairment HP:0000365
70 cupped ear HP:0000378
71 macrotia HP:0000400
72 protruding ear HP:0000411
73 bulbous nose HP:0000414
74 wide nasal bridge HP:0000431
75 strabismus HP:0000486
76 cataract HP:0000518
77 hypermetropia HP:0000540
78 upslanted palpebral fissure HP:0000582
79 coloboma HP:0000589
80 blindness HP:0000618
81 anxiety HP:0000739
82 pectus excavatum HP:0000767
83 intellectual disability HP:0001249
84 seizures HP:0001250
85 spasticity HP:0001257
86 hyperreflexia HP:0001347
87 x-linked recessive inheritance HP:0001419
88 abnormality of the rib cage HP:0001547
89 nasal speech HP:0001611
90 ventricular septal defect HP:0001629
91 defect in the atrial septum HP:0001631
92 tetralogy of fallot HP:0001636
93 situs inversus totalis HP:0001696
94 phimosis HP:0001741
95 pes cavus HP:0001761
96 narrow foot HP:0001786
97 anal atresia HP:0002023
98 poor suck HP:0002033
99 cerebral atrophy HP:0002059
100 scoliosis HP:0002650
101 clinodactyly of the 5th finger HP:0004209
102 short stature HP:0004322
103 sparse lateral eyebrow HP:0005338
104 sparse hair HP:0008070
105 decreased testicular size HP:0008734
106 joint contracture of the hand HP:0009473
107 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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Anatomical Context for Renpenning Syndrome

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MalaCards organs/tissues related to Renpenning Syndrome:

Testes, Eye, Skeletal muscle, Bone, Colon

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)
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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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

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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
  • Proteins
  • Kits and Assays

Sources for Renpenning Syndrome

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27ICD10 via Orphanet
35MESH via Orphanet
47OMIM via Orphanet
57SNOMED-CT via Orphanet
62UMLS via Orphanet