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Microcephaly 25, primary, autosomal recessive(MCPH25)

MedGen UID:
1674123
Concept ID:
C5193046
Disease or Syndrome
Synonyms: MCPH25; MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE
 
Gene (location): TRAPPC14 (7q22.1)
 
Monarch Initiative: MONDO:0032694
OMIM®: 618351

Clinical features

From HPO
Filum terminale lipoma
MedGen UID:
1053287
Concept ID:
CN376697
Finding
Filum terminale lipomas (FTLs) are a type of lumbosacral lipoma in which the fat is entirely within the filum terminale and separate from the conus medullaris.
Tethered cord
MedGen UID:
36387
Concept ID:
C0080218
Disease or Syndrome
During normal embryological development, the spinal cord first occupies the entire length of the vertebral column but goes on to assume a position at the level of L1 due to differential growth of the conus medullaris and the vertebral column. The filum terminale is a slender, threadlike structure that remains after the normal regression of the distal embryonic spinal cord and attaches the spinal cord to the coccyx. A tethered cord results if there is a thickened rope-like filum terminale which anchors the cord at the level of L2 or below, potentially causing neurologic signs owing to abnormal tension on the spinal cord.
Hypoplasia of the corpus callosum
MedGen UID:
138005
Concept ID:
C0344482
Congenital Abnormality
Underdevelopment of the corpus callosum.
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.
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\nIn most affected individuals, ADHD continues throughout life, but in about one-third of individuals, signs and symptoms of ADHD go away by adulthood.\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.
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.
Primary microcephaly
MedGen UID:
383046
Concept ID:
C2677180
Finding
Head circumference below 2 standard deviations below the mean for age and gender at birth.

Professional guidelines

PubMed

Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202

Recent clinical studies

Etiology

Aslam K, Anjum I, Aslam K, Haq R, Bashir R
Mol Biol Rep 2023 Oct;50(10):8049-8059. Epub 2023 Aug 4 doi: 10.1007/s11033-023-08681-1. PMID: 37541996
Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S
J Med Genet 2020 Jun;57(6):389-399. Epub 2020 Feb 3 doi: 10.1136/jmedgenet-2019-106474. PMID: 32015000
Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202

Diagnosis

Cheng C, Yang Y, Zhu X, Yu X, Zhang T, Yang F, Chen F, Chen X, Zhao S, Guo J
Eur J Med Genet 2020 Dec;63(12):104091. Epub 2020 Oct 24 doi: 10.1016/j.ejmg.2020.104091. PMID: 33132204
Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS
Mol Genet Genomic Med 2020 Sep;8(9):e1408. Epub 2020 Jul 17 doi: 10.1002/mgg3.1408. PMID: 32677750Free PMC Article
Rupp V, Rauf S, Naveed I, Windpassinger C, Mir A
BMC Med Genet 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4. PMID: 25303973Free PMC Article
Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202
Kraakman-van der Zwet M, Overkamp WJ, Friedl AA, Klein B, Verhaegh GW, Jaspers NG, Midro AT, Eckardt-Schupp F, Lohman PH, Zdzienicka MZ
Mutat Res 1999 May 14;434(1):17-27. doi: 10.1016/s0921-8777(99)00009-9. PMID: 10377945

Therapy

Nasser H, Vera L, Elmaleh-Bergès M, Steindl K, Letard P, Teissier N, Ernault A, Guimiot F, Afenjar A, Moutard ML, Héron D, Alembik Y, Momtchilova M, Milani P, Kubis N, Pouvreau N, Zollino M, Guilmin Crepon S, Kaguelidou F, Gressens P, Verloes A, Rauch A, El Ghouzzi V, Drunat S, Passemard S
J Med Genet 2020 Jun;57(6):389-399. Epub 2020 Feb 3 doi: 10.1136/jmedgenet-2019-106474. PMID: 32015000

Prognosis

Rupp V, Rauf S, Naveed I, Windpassinger C, Mir A
BMC Med Genet 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4. PMID: 25303973Free PMC Article
Seeman P, Gebertová K, Paderová K, Sperling K, Seemanová E
Pediatr Neurol 2004 Mar;30(3):195-200. doi: 10.1016/j.pediatrneurol.2003.07.003. PMID: 15033202

Clinical prediction guides

Rasool S, Baig JM, Moawia A, Ahmad I, Iqbal M, Waseem SS, Asif M, Abdullah U, Makhdoom EUH, Kaygusuz E, Zakaria M, Ramzan S, Haque SU, Mir A, Anjum I, Fiaz M, Ali Z, Tariq M, Saba N, Hussain W, Budde B, Irshad S, Noegel AA, Höning S, Baig SM, Nürnberg P, Hussain MS
Mol Genet Genomic Med 2020 Sep;8(9):e1408. Epub 2020 Jul 17 doi: 10.1002/mgg3.1408. PMID: 32677750Free PMC Article
Rupp V, Rauf S, Naveed I, Windpassinger C, Mir A
BMC Med Genet 2014 Oct 11;15:107. doi: 10.1186/s12881-014-0107-4. PMID: 25303973Free PMC Article
Hussain MS, Baig SM, Neumann S, Peche VS, Szczepanski S, Nürnberg G, Tariq M, Jameel M, Khan TN, Fatima A, Malik NA, Ahmad I, Altmüller J, Frommolt P, Thiele H, Höhne W, Yigit G, Wollnik B, Neubauer BA, Nürnberg P, Noegel AA
Hum Mol Genet 2013 Dec 20;22(25):5199-214. Epub 2013 Aug 4 doi: 10.1093/hmg/ddt374. PMID: 23918663
Venkatesh T, Nagashri MN, Swamy SS, Mohiyuddin SM, Gopinath KS, Kumar A
PLoS One 2013;8(3):e54643. Epub 2013 Mar 5 doi: 10.1371/journal.pone.0054643. PMID: 23472065Free PMC Article

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