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Intellectual developmental disorder, autosomal recessive 70(MRT70)

MedGen UID:
1679317
Concept ID:
C5193077
Disease or Syndrome
Synonym: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 70
 
Gene (location): RSRC1 (3q25.32)
 
Monarch Initiative: MONDO:0032729
OMIM®: 618402

Definition

MRT70 is characterized primarily by impaired intellectual development. Mild facial dysmorphism, febrile seizures, and behavioral abnormalities have been reported in some patients (Maddirevula et al., 2018; Perez et al., 2018). [from OMIM]

Clinical features

From HPO
Urinary incontinence
MedGen UID:
22579
Concept ID:
C0042024
Finding
Loss of the ability to control the urinary bladder leading to involuntary urination.
Febrile seizure (within the age range of 3 months to 6 years)
MedGen UID:
3232
Concept ID:
C0009952
Disease or Syndrome
A febrile seizure is any type of seizure (most often a generalized tonic-clonic seizure) occurring with fever (at least 38 degrees Celsius) but in the absence of central nervous system infection, severe metabolic disturbance or other alternative precipitant in children between the ages of 3 months and 6 years.
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 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.
Autistic behavior
MedGen UID:
163547
Concept ID:
C0856975
Mental or Behavioral Dysfunction
Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.
Attention deficit hyperactivity disorder
MedGen UID:
220387
Concept ID:
C1263846
Mental or Behavioral Dysfunction
Attention-deficit/hyperactivity disorder (ADHD) is a behavioral disorder that typically begins in childhood and is characterized by a short attention span (inattention), an inability to be calm and stay still (hyperactivity), and poor impulse control (impulsivity). Some people with ADHD have problems with only inattention or with hyperactivity and impulsivity, but most have problems related to all three features.\n\nIn people with ADHD, the characteristic behaviors are frequent and severe enough to interfere with the activities of daily living such as school, work, and relationships with others. Because of an inability to stay focused on tasks, people with inattention may be easily distracted, forgetful, avoid tasks that require sustained attention, have difficulty organizing tasks, or frequently lose items.\n\nHyperactivity is usually shown by frequent movement. Individuals with this feature often fidget or tap their foot when seated, leave their seat when it is inappropriate to do so (such as in the classroom), or talk a lot and interrupt others.\n\nImpulsivity can result in hasty actions without thought for the consequences. Individuals with poor impulse control may have difficulty waiting for their turn, deferring to others, or considering their actions before acting.\n\nMore than two-thirds of all individuals with ADHD have additional conditions, including insomnia, mood or anxiety disorders, learning disorders, or substance use disorders. Affected individuals may also have autism spectrum disorder, which is characterized by impaired communication and social interaction, or Tourette syndrome, which is a disorder characterized by repetitive and involuntary movements or noises called tics.\n\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.
Motor delay
MedGen UID:
381392
Concept ID:
C1854301
Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
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.
Severe temper tantrums
MedGen UID:
1370486
Concept ID:
C4476627
Mental or Behavioral Dysfunction
Temper tantrums, which occur with more severe symptomatology compared to a temper tantrum that occurs as a part of normal developmental process.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Retrognathia
MedGen UID:
19766
Concept ID:
C0035353
Congenital Abnormality
An abnormality in which the mandible is mislocalised posteriorly.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Drooling
MedGen UID:
8484
Concept ID:
C0013132
Finding
Habitual flow of saliva out of the mouth.
Wide nasal bridge
MedGen UID:
341441
Concept ID:
C1849367
Finding
Increased breadth of the nasal bridge (and with it, the nasal root).
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).

Professional guidelines

PubMed

van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article

Recent clinical studies

Etiology

Ouyang Q, Kavanaugh BC, Joesch-Cohen L, Dubois B, Wu Q, Schmidt M, Baytas O, Pastore SF, Harripaul R, Mishra S, Hussain A, Kim KH, Holler-Managan YF, Ayub M, Mir A, Vincent JB, Liu JS, Morrow EM
Hum Genet 2019 Oct;138(10):1183-1200. Epub 2019 Aug 30 doi: 10.1007/s00439-019-02057-x. PMID: 31471722Free PMC Article
Rauch A, Wieczorek D, Graf E, Wieland T, Endele S, Schwarzmayr T, Albrecht B, Bartholdi D, Beygo J, Di Donato N, Dufke A, Cremer K, Hempel M, Horn D, Hoyer J, Joset P, Röpke A, Moog U, Riess A, Thiel CT, Tzschach A, Wiesener A, Wohlleber E, Zweier C, Ekici AB, Zink AM, Rump A, Meisinger C, Grallert H, Sticht H, Schenck A, Engels H, Rappold G, Schröck E, Wieacker P, Riess O, Meitinger T, Reis A, Strom TM
Lancet 2012 Nov 10;380(9854):1674-82. Epub 2012 Sep 27 doi: 10.1016/S0140-6736(12)61480-9. PMID: 23020937
Nowaczyk MJ, Tan M, Hamid JS, Allanson JE
Am J Med Genet A 2012 May;158A(5):1020-8. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.35285. PMID: 22438180
McDonald CM, Johnson ER, Abresch RT, Carter GT, Fowler WM Jr, Kilmer DD
Am J Phys Med Rehabil 1995 Sep-Oct;74(5 Suppl):S117-30. doi: 10.1097/00002060-199509001-00006. PMID: 7576419
Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

Diagnosis

Horber V, Andersen GL, Arnaud C, De La Cruz J, Dakovic I, Greitane A, Hensey O, Himmelmann K, Hollody K, Horridge K, Künzle CT, Marcelli M, Ortibus E, Papavasiliou A, Perra O, Platt MJ, Rackauskaite G, Sigurdardottir S, Troha Gergeli A, Virella D, Krägeloh-Mann I, Sellier E
Neurology 2023 Dec 12;101(24):e2509-e2521. Epub 2023 Oct 19 doi: 10.1212/WNL.0000000000207851. PMID: 37857495Free PMC Article
Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article
Reuter MS, Tawamie H, Buchert R, Hosny Gebril O, Froukh T, Thiel C, Uebe S, Ekici AB, Krumbiegel M, Zweier C, Hoyer J, Eberlein K, Bauer J, Scheller U, Strom TM, Hoffjan S, Abdelraouf ER, Meguid NA, Abboud A, Al Khateeb MA, Fakher M, Hamdan S, Ismael A, Muhammad S, Abdallah E, Sticht H, Wieczorek D, Reis A, Abou Jamra R
JAMA Psychiatry 2017 Mar 1;74(3):293-299. doi: 10.1001/jamapsychiatry.2016.3798. PMID: 28097321
Srinath A, Shneider BL
J Pediatr Gastroenterol Nutr 2012 May;54(5):580-7. doi: 10.1097/MPG.0b013e31824711b7. PMID: 22197937Free PMC Article

Therapy

Hirvasniemi A, Herrala P, Leisti J
Epilepsia 1995 Aug;36(8):792-7. doi: 10.1111/j.1528-1157.1995.tb01616.x. PMID: 7635097

Prognosis

Korasick DA, Tanner JJ
Biochimie 2021 Apr;183:49-54. Epub 2020 Sep 19 doi: 10.1016/j.biochi.2020.09.016. PMID: 32956737Free PMC Article
Zech M, Brunet T, Škorvánek M, Blaschek A, Vill K, Hanker B, Hüning I, Haň V, Došekova P, Gdovinová Z, Alhaddad B, Berutti R, Strom TM, Růžička E, Kamsteeg EJ, van der Smagt JJ, Wagner M, Jech R, Winkelmann J
Parkinsonism Relat Disord 2020 Aug;77:70-75. Epub 2020 Jun 29 doi: 10.1016/j.parkreldis.2020.06.027. PMID: 32629324
Alagoz M, Kherad N, Gunger E, Kaymaz S, Yuksel A
J Mol Neurosci 2020 Dec;70(12):2077-2084. Epub 2020 Jun 13 doi: 10.1007/s12031-020-01614-8. PMID: 32535712
Pop A, Smith DEC, Kirby T, Walters D, Gibson KM, Mahmoudi S, van Dooren SJM, Kanhai WA, Fernandez-Ojeda MR, Wever EJM, Koster J, Waterham HR, Grob B, Roos B, Wamelink MMC, Chen J, Natesan S, Salomons GS
Mol Genet Metab 2020 Jul;130(3):172-178. Epub 2020 May 4 doi: 10.1016/j.ymgme.2020.04.004. PMID: 32402538
Iannello S, Bosco P, Cavaleri A, Camuto M, Milazzo P, Belfiore F
Obes Rev 2002 May;3(2):123-35. doi: 10.1046/j.1467-789x.2002.00055.x. PMID: 12120419

Clinical prediction guides

Nagarajan B, Gowda VK, Yoganathan S, Sharawat IK, Srivastava K, Vora N, Badheka R, Danda S, Kalane U, Kaur A, Madaan P, Mehta S, Negi S, Panda PK, Rajadhyaksha S, Saini AG, Saini L, Shah S, Srinivasan VM, Suthar R, Thomas M, Vyas S, Sankhyan N, Sahu JK
Epilepsia Open 2023 Dec;8(4):1383-1404. Epub 2023 Aug 25 doi: 10.1002/epi4.12811. PMID: 37583270Free PMC Article
Korasick DA, Tanner JJ
Biochimie 2021 Apr;183:49-54. Epub 2020 Sep 19 doi: 10.1016/j.biochi.2020.09.016. PMID: 32956737Free PMC Article
Moore SW
Pediatr Surg Int 2012 Nov;28(11):1045-58. Epub 2012 Sep 23 doi: 10.1007/s00383-012-3175-6. PMID: 23001136
Nowaczyk MJ, Tan M, Hamid JS, Allanson JE
Am J Med Genet A 2012 May;158A(5):1020-8. Epub 2012 Mar 21 doi: 10.1002/ajmg.a.35285. PMID: 22438180
Smalley SL, Asarnow RF, Spence MA
Arch Gen Psychiatry 1988 Oct;45(10):953-61. doi: 10.1001/archpsyc.1988.01800340081013. PMID: 3048227

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