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MENTAL RETARDATION, AUTOSOMAL DOMINANT 48(MRD48)

MedGen UID:
1619532
Concept ID:
C4540321
Mental or Behavioral Dysfunction
Synonyms: MRD48
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Sources: HPO, OMIM, Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal dominant inheritance (HPO, OMIM, Orphanet)
 
Gene (location): RAC1 (7p22.1)
OMIM®: 617751
Orphanet: ORPHA500159

Clinical features

From HPO
Muscular hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
A condition of decreased tone of the skeletal muscles and diminished resistance to passive stretching.
Seizures
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
Clinical or subclinical disturbances of cortical function due to a sudden, abnormal, excessive, and disorganized discharge of brain cells. Clinical manifestations include abnormal motor, sensory and psychic phenomena. Recurrent seizures are usually referred to as EPILEPSY or "seizure disorder."
Stereotypy
MedGen UID:
21320
Concept ID:
C0038273
Mental or Behavioral Dysfunction
A stereotypy is a repetitive, simple movement that can be voluntarily suppressed. Stereotypies are typically simple back-and-forth movements such as waving of flapping the hands or arms, and they do not involve complex sequences or movement fragments. Movement is often but not always rhythmic and may involve fingers, wrists, or more proximal portions of the upper extremity. The lower extremity is not typically involved. Stereotypies are more commonly bilateral than unilateral.
Polymicrogyria
MedGen UID:
78605
Concept ID:
C0266464
Congenital Abnormality
A congenital abnormality of the cerebral hemisphere characterized by an excessive number of small gyri (convolutions) on the surface of the brain.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Microcephaly
MedGen UID:
473122
Concept ID:
C0424688
Finding
Occipito-frontal (head) circumference (OFC) less than -3 standard deviations compared to appropriate, age matched, normal standards (Ross JJ, Frias JL 1977, PMID:9683597). Alternatively, decreased size of the cranium.
Cerebellar vermis hypoplasia
MedGen UID:
333548
Concept ID:
C1840379
Finding
Underdevelopment of the vermis of cerebellum.
Intellectual disability
MedGen UID:
334384
Concept ID:
C1843367
Finding
Dilated fourth ventricle
MedGen UID:
376050
Concept ID:
C1847117
Finding
An abnormal dilatation of the fourth cerebral ventricle.
Enlarged cisterna magna
MedGen UID:
344031
Concept ID:
C1853377
Finding
Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.
Dilation of lateral ventricles
MedGen UID:
383904
Concept ID:
C1856409
Finding
Macrocephalus
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
Dysgenesis of the cerebellar vermis
MedGen UID:
871238
Concept ID:
C4025719
Anatomical Abnormality
Defective development of the vermis of cerebellum.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMENTAL RETARDATION, AUTOSOMAL DOMINANT 48

Recent clinical studies

Etiology

Garavelli L, Maini I, Baccilieri F, Ivanovski I, Pollazzon M, Rosato S, Iughetti L, Unger S, Superti-Furga A, Tartaglia M
Eur J Pediatr 2016 Oct;175(10):1307-15. Epub 2016 Aug 25 doi: 10.1007/s00431-016-2761-3. PMID: 27562837
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L
Clin Genet 2016 May;89(5):630-5. Epub 2016 Jan 4 doi: 10.1111/cge.12696. PMID: 26582393
Sammour ZM, Gomes CM, de Bessa J Jr, Pinheiro MS, Kim CA, Hisano M, Bruschini H, Srougi M
J Pediatr Urol 2014 Oct;10(5):804-9. Epub 2014 Feb 13 doi: 10.1016/j.jpurol.2014.01.013. PMID: 24582571
Pottier C, Wallon D, Lecrux AR, Maltete D, Bombois S, Jurici S, Frebourg T, Hannequin D, Campion D
J Alzheimers Dis 2012;28(3):561-6. doi: 10.3233/JAD-2011-111148. PMID: 22045488
Finch R, Moore HG, Lindor N, Jalal SM, Markowitz A, Suresh J, Offit K, Guillem JG
Dis Colon Rectum 2005 Nov;48(11):2148-52. doi: 10.1007/s10350-005-0177-7. PMID: 16228830

Diagnosis

Garavelli L, Maini I, Baccilieri F, Ivanovski I, Pollazzon M, Rosato S, Iughetti L, Unger S, Superti-Furga A, Tartaglia M
Eur J Pediatr 2016 Oct;175(10):1307-15. Epub 2016 Aug 25 doi: 10.1007/s00431-016-2761-3. PMID: 27562837
Lefebvre M, Sanlaville D, Marle N, Thauvin-Robinet C, Gautier E, Chehadeh SE, Mosca-Boidron AL, Thevenon J, Edery P, Alex-Cordier MP, Till M, Lyonnet S, Cormier-Daire V, Amiel J, Philippe A, Romana S, Malan V, Afenjar A, Marlin S, Chantot-Bastaraud S, Bitoun P, Heron B, Piparas E, Morice-Picard F, Moutton S, Chassaing N, Vigouroux-Castera A, Lespinasse J, Manouvrier-Hanu S, Boute-Benejean O, Vincent-Delorme C, Petit F, Meur NL, Marti-Dramard M, Guerrot AM, Goldenberg A, Redon S, Ferrec C, Odent S, Caignec CL, Mercier S, Gilbert-Dussardier B, Toutain A, Arpin S, Blesson S, Mortemousque I, Schaefer E, Martin D, Philip N, Sigaudy S, Busa T, Missirian C, Giuliano F, Benailly HK, Kien PK, Leheup B, Benneteau C, Lambert L, Caumes R, Kuentz P, François I, Heron D, Keren B, Cretin E, Callier P, Julia S, Faivre L
Clin Genet 2016 May;89(5):630-5. Epub 2016 Jan 4 doi: 10.1111/cge.12696. PMID: 26582393
Hu H, Xiao X, Li S, Jia X, Guo X, Zhang Q
Br J Ophthalmol 2016 Feb;100(2):278-83. Epub 2015 Oct 15 doi: 10.1136/bjophthalmol-2015-306878. PMID: 26472404
Moles KJ, Gowans GC, Gedela S, Beversdorf D, Yu A, Seaver LH, Schultz RA, Rosenfeld JA, Torchia BS, Shaffer LG
Genet Med 2012 May;14(5):508-14. Epub 2012 Jan 12 doi: 10.1038/gim.2011.46. PMID: 22241097
Armstrong L, Abd El Moneim A, Aleck K, Aughton DJ, Baumann C, Braddock SR, Gillessen-Kaesbach G, Graham JM Jr, Grebe TA, Gripp KW, Hall BD, Hennekam R, Hunter A, Keppler-Noreuil K, Lacombe D, Lin AE, Ming JE, Kokitsu-Nakata NM, Nikkel SM, Philip N, Raas-Rothschild A, Sommer A, Verloes A, Walter C, Wieczorek D, Williams MS, Zackai E, Allanson JE
Am J Med Genet A 2005 Jan 30;132A(3):265-72. doi: 10.1002/ajmg.a.30340. PMID: 15690370

Therapy

Krunic AL, Viehman GE, Madani S, Clark RE
J Dermatol 1998 Jan;25(1):10-2. PMID: 9519602

Prognosis

Krunic AL, Viehman GE, Madani S, Clark RE
J Dermatol 1998 Jan;25(1):10-2. PMID: 9519602
Franceschini P, Guala A, Vardeu MP, Signorile F, Franceschini D, Mastroiacovo P, Gianotti A, Livini E, Lalatta F, Selicorni A, Andria G, Scarano G, Della Monica M, Rizzo R, Zelante L, Stabile M, Gabrielli O, Neri G
Minerva Pediatr 1996 Oct;48(10):421-8. PMID: 9017917

Clinical prediction guides

Pottier C, Wallon D, Lecrux AR, Maltete D, Bombois S, Jurici S, Frebourg T, Hannequin D, Campion D
J Alzheimers Dis 2012;28(3):561-6. doi: 10.3233/JAD-2011-111148. PMID: 22045488
Querfurth HW, Wijsman EM, St George-Hyslop PH, Selkoe DJ
Brain Res Mol Brain Res 1995 Feb;28(2):319-37. PMID: 7723630

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