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Intellectual disability, autosomal recessive 13(MRT13)

MedGen UID:
442564
Concept ID:
C2750791
Mental or Behavioral Dysfunction
Synonyms: Intellectual developmental disorder, autosomal recessive 13; MRT13
 
Gene (location): TRAPPC9 (8q24.3)
 
Monarch Initiative: MONDO:0013173
OMIM®: 613192

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene. [from MONDO]

Clinical features

From HPO
Slender finger
MedGen UID:
387832
Concept ID:
C1857482
Finding
Fingers that are disproportionately narrow (reduced girth) for the hand/foot size or build of the individual.
Truncal obesity
MedGen UID:
1637490
Concept ID:
C4551560
Finding
Obesity located preferentially in the trunk of the body as opposed to the extremities.
Bruxism
MedGen UID:
676
Concept ID:
C0006325
Mental or Behavioral Dysfunction
Bruxism is characterized by the grinding of the teeth including the clenching of the jaw and typically occur during sleep, but also can occur while the affected individual is awake.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Delayed ability to walk
MedGen UID:
66034
Concept ID:
C0241726
Finding
A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
Hyperactivity
MedGen UID:
98406
Concept ID:
C0424295
Finding
Hyperactivity is a condition characterized by constant and unusually high levels of activity, even in situations where it is deemed inappropriate.
Delayed speech and language development
MedGen UID:
105318
Concept ID:
C0454644
Finding
A degree of language development that is significantly below the norm for a child of a specified age.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Abnormal cerebral white matter morphology
MedGen UID:
181756
Concept ID:
C0948163
Pathologic Function
An abnormality of the cerebral white matter.
Inferior cerebellar vermis hypoplasia
MedGen UID:
343328
Concept ID:
C1855350
Congenital Abnormality
Underdevelopment of the inferior portion of the vermis of cerebellum.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Recurrent hand flapping
MedGen UID:
867996
Concept ID:
C4022387
Mental or Behavioral Dysfunction
A type of repetitive behavior in which the affected individual repeatedly waves the hands and/or arms rhythmically.
Secondary microcephaly
MedGen UID:
608952
Concept ID:
C0431352
Finding
Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.
Mild microcephaly
MedGen UID:
332294
Concept ID:
C1836806
Congenital Abnormality
Decreased occipito-frontal (head) circumference (OFC). For the microcephaly OFC must be between -3 SD and -2 SD compared to appropriate, age matched, normal standards (i.e. -3 SD <= OFC < -2 SD).
Cleft upper lip
MedGen UID:
40327
Concept ID:
C0008924
Congenital Abnormality
A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.
Short neck
MedGen UID:
99267
Concept ID:
C0521525
Finding
Diminished length of the neck.
Smooth philtrum
MedGen UID:
222980
Concept ID:
C1142533
Finding
Flat skin surface, with no ridge formation in the central region of the upper lip between the nasal base and upper vermilion border.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
Short philtrum
MedGen UID:
350006
Concept ID:
C1861324
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean. Alternatively, an apparently decreased distance between nasal base and midline upper lip vermilion border.
Downturned corners of mouth
MedGen UID:
356471
Concept ID:
C1866195
Anatomical Abnormality
A morphological abnormality of the mouth in which the angle of the mouth is downturned. The oral commissures are positioned inferior to the midline labial fissure.
Synophrys
MedGen UID:
98132
Concept ID:
C0431447
Congenital Abnormality
Meeting of the medial eyebrows in the midline.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Hypotelorism
MedGen UID:
96107
Concept ID:
C0424711
Finding
Interpupillary distance less than 2 SD below the mean (alternatively, the appearance of an decreased interpupillary distance or closely spaced eyes).

Professional guidelines

PubMed

Lin L, Zhang Y, Pan H, Wang J, Qi Y, Ma Y
Orphanet J Rare Dis 2020 Nov 11;15(1):317. doi: 10.1186/s13023-020-01599-y. PMID: 33176815Free PMC Article
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J Med Genet 2015 Jan;52(1):61-70. Epub 2014 Nov 19 doi: 10.1136/jmedgenet-2014-102748. PMID: 25411445
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Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870

Recent clinical studies

Etiology

Hill C, Noureldein M, Karkhanis P, Kinning E, Vijay S, Gowda H
Am J Med Genet A 2023 Mar;191(3):859-863. Epub 2022 Dec 20 doi: 10.1002/ajmg.a.63083. PMID: 36538928
Votsi C, Zamba-Papanicolaou E, Middleton LT, Pantzaris M, Christodoulou K
Ann Hum Genet 2014 Jan;78(1):13-22. Epub 2013 Nov 20 doi: 10.1111/ahg.12045. PMID: 24252062
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870
Fryns JP, Kleczowska A, Decock P, van den Berghe H
Genet Couns 1990;1(1):57-62. PMID: 2222923
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

Diagnosis

AlTassan R, AlQudairy H, Alromayan R, Alfalah A, AlHarbi OA, González-Álvarez AC, Arold ST, Kaya N
Genes (Basel) 2022 Nov 30;13(12) doi: 10.3390/genes13122252. PMID: 36553519Free PMC Article
Duan R, Saadi NW, Grochowski CM, Bhadila G, Faridoun A, Mitani T, Du H, Fatih JM, Jhangiani SN, Akdemir ZC, Gibbs RA, Pehlivan D, Posey JE, Marafi D, Lupski JR
Am J Med Genet A 2021 Jul;185(7):1972-1980. Epub 2021 Apr 2 doi: 10.1002/ajmg.a.62192. PMID: 33797191Free PMC Article
Desai NA, Udani V
J Child Neurol 2015 Nov;30(13):1819-23. Epub 2015 Apr 28 doi: 10.1177/0883073815583335. PMID: 25922261
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870

Therapy

Verhoeven WMA, Egger JIM, Janssen PKC, van Haeringen A
BMJ Case Rep 2020 Dec 12;13(12) doi: 10.1136/bcr-2020-235972. PMID: 33310825Free PMC Article
Stelten BML, Bonnot O, Huidekoper HH, van Spronsen FJ, van Hasselt PM, Kluijtmans LAJ, Wevers RA, Verrips A
J Inherit Metab Dis 2018 Jul;41(4):641-646. Epub 2017 Sep 11 doi: 10.1007/s10545-017-0086-7. PMID: 28894950
Mitchell JJ, Trakadis YJ, Scriver CR
Genet Med 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. PMID: 21555948
Matern D, He M, Berry SA, Rinaldo P, Whitley CB, Madsen PP, van Calcar SC, Lussky RC, Andresen BS, Wolff JA, Vockley J
Pediatrics 2003 Jul;112(1 Pt 1):74-8. doi: 10.1542/peds.112.1.74. PMID: 12837870
McTaggart SJ, Craig J, MacMillan J, Burke JR
Pediatr Nephrol 1999 Oct;13(8):668-71. doi: 10.1007/s004670050678. PMID: 10502124

Prognosis

AlTassan R, AlQudairy H, Alromayan R, Alfalah A, AlHarbi OA, González-Álvarez AC, Arold ST, Kaya N
Genes (Basel) 2022 Nov 30;13(12) doi: 10.3390/genes13122252. PMID: 36553519Free PMC Article
Rejeb I, Jilani H, Elaribi Y, Hizem S, Hila L, Zillahrdt JL, Chelly J, Benjemaa L
BMC Med Genet 2017 Nov 17;18(1):134. doi: 10.1186/s12881-017-0493-5. PMID: 29149870Free PMC Article
Alsemari A, Al-Younes B, Goljan E, Jaroudi D, BinHumaid F, Meyer BF, Arold ST, Monies D
Hum Genomics 2017 Nov 14;11(1):28. doi: 10.1186/s40246-017-0124-4. PMID: 29137650Free PMC Article
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
Hennekam RC, Stevens CA, Van de Kamp JJ
Am J Med Genet Suppl 1990;6:56-64. doi: 10.1002/ajmg.1320370610. PMID: 2118780

Clinical prediction guides

Bayat A, de Valles-Ibáñez G, Pendziwiat M, Knaus A, Alt K, Biamino E, Bley A, Calvert S, Carney P, Caro-Llopis A, Ceulemans B, Cousin J, Davis S, des Portes V, Edery P, England E, Ferreira C, Freeman J, Gener B, Gorce M, Heron D, Hildebrand MS, Jezela-Stanek A, Jouk PS, Keren B, Kloth K, Kluger G, Kuhn M, Lemke JR, Li H, Martinez F, Maxton C, Mefford HC, Merla G, Mierzewska H, Muir A, Monfort S, Nicolai J, Norman J, O'Grady G, Oleksy B, Orellana C, Orec LE, Peinhardt C, Pronicka E, Rosello M, Santos-Simarro F, Schwaibold EMC, Stegmann APA, Stumpel CT, Szczepanik E, Terczyńska I, Thevenon J, Tzschach A, Van Bogaert P, Vittorini R, Walsh S, Weckhuysen S, Weissman B, Wolfe L, Reymond A, De Nittis P, Poduri A, Olson H, Striano P, Lesca G, Scheffer IE, Møller RS, Sadleir LG
Epilepsia 2022 Apr;63(4):974-991. Epub 2022 Feb 18 doi: 10.1111/epi.17173. PMID: 35179230
Ozaki A, Sasaki M, Hiraide T, Sumitomo N, Takeshita E, Shimizu-Motohashi Y, Ishiyama A, Saito T, Komaki H, Nakagawa E, Sato N, Nakashima M, Saitsu H
Brain Dev 2020 Jun;42(6):462-467. Epub 2020 Mar 12 doi: 10.1016/j.braindev.2020.02.008. PMID: 32173090
de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, Hoischen A, Scheffer H, de Vries BB, Brunner HG, Veltman JA, Vissers LE
N Engl J Med 2012 Nov 15;367(20):1921-9. Epub 2012 Oct 3 doi: 10.1056/NEJMoa1206524. PMID: 23033978
Schuurs-Hoeijmakers JH, Hehir-Kwa JY, Pfundt R, van Bon BW, de Leeuw N, Kleefstra T, Willemsen MA, van Kessel AG, Brunner HG, Veltman JA, van Bokhoven H, de Brouwer AP, de Vries BB
Eur J Hum Genet 2011 May;19(5):597-601. Epub 2011 Jan 19 doi: 10.1038/ejhg.2010.167. PMID: 21248743Free PMC Article
Bruford EA, Riise R, Teague PW, Porter K, Thomson KL, Moore AT, Jay M, Warburg M, Schinzel A, Tommerup N, Tornqvist K, Rosenberg T, Patton M, Mansfield DC, Wright AF
Genomics 1997 Apr 1;41(1):93-9. doi: 10.1006/geno.1997.4613. PMID: 9126487

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