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Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome(BILAPES)

MedGen UID:
1621949
Concept ID:
C4539828
Disease or Syndrome
Synonym: Birk-Landau-Perez syndrome
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: 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 individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SLC30A9 (4p13)
 
Monarch Initiative: MONDO:0044726
OMIM®: 617595
Orphanet: ORPHA505242

Definition

Birk-Landau-Perez syndrome (BILAPES) is an autosomal recessive syndromic developmental disorder characterized by global developmental delay apparent from infancy or early childhood. Some patients have developmental regression with loss of speech and motor skills, whereas other patients never achieve these milestones. More variable features may include hypotonia, poor overall growth, ataxia, dystonia, abnormal eye movements, and renal insufficiency (Perez et al., 2017; Kleyner et al., 2022). [from OMIM]

Clinical features

From HPO
Tubulointerstitial nephritis
MedGen UID:
11952
Concept ID:
C0041349
Disease or Syndrome
A form of inflammation of the kidney affecting the interstitium of the kidneys surrounding the tubules.
Renal hypoplasia
MedGen UID:
120571
Concept ID:
C0266295
Congenital Abnormality
Hypoplasia of the kidney.
Renal insufficiency
MedGen UID:
332529
Concept ID:
C1565489
Disease or Syndrome
A reduction in the level of performance of the kidneys in areas of function comprising the concentration of urine, removal of wastes, the maintenance of electrolyte balance, homeostasis of blood pressure, and calcium metabolism.
Stage 3 chronic kidney disease
MedGen UID:
389222
Concept ID:
C2316787
Disease or Syndrome
A type of chronic kidney disease with moderately reduced glomerular filtration rate (GFR 30-59 mL/min/1.73 m2).
Hyperechogenic kidneys
MedGen UID:
477530
Concept ID:
C3275899
Finding
An increase in amplitude of waves returned in ultrasonography of the kidney, which is generally displayed as increased brightness of the signal.
Limb hypertonia
MedGen UID:
333083
Concept ID:
C1838391
Finding
Hypertensive disorder
MedGen UID:
6969
Concept ID:
C0020538
Disease or Syndrome
The presence of chronic increased pressure in the systemic arterial system.
Fetal growth restriction
MedGen UID:
4693
Concept ID:
C0015934
Pathologic Function
An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.
Growth delay
MedGen UID:
99124
Concept ID:
C0456070
Pathologic Function
A deficiency or slowing down of growth pre- and postnatally.
Failure to thrive in infancy
MedGen UID:
358083
Concept ID:
C1867873
Finding
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Progressive sensorineural hearing impairment
MedGen UID:
335894
Concept ID:
C1843156
Disease or Syndrome
A progressive form of sensorineural hearing impairment.
Dyskinesia
MedGen UID:
8514
Concept ID:
C0013384
Disease or Syndrome
A movement disorder which consists of effects including diminished voluntary movements and the presence of involuntary movements.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Arachnoid cyst
MedGen UID:
86860
Concept ID:
C0078981
Disease or Syndrome
An extra-parenchymal and intra-arachnoidal collection of fluid with a composition similar to that of cerebrospinal fluid.
Choreoathetosis
MedGen UID:
39313
Concept ID:
C0085583
Disease or Syndrome
Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).
Corpus callosum, agenesis of
MedGen UID:
104498
Concept ID:
C0175754
Congenital Abnormality
The corpus callosum is the largest fiber tract in the central nervous system and the major interhemispheric fiber bundle in the brain. Formation of the corpus callosum begins as early as 6 weeks' gestation, with the first fibers crossing the midline at 11 to 12 weeks' gestation, and completion of the basic shape by age 18 to 20 weeks (Schell-Apacik et al., 2008). Agenesis of the corpus callosum (ACC) is one of the most frequent malformations in brain with a reported incidence ranging between 0.5 and 70 in 10,000 births. ACC is a clinically and genetically heterogeneous condition, which can be observed either as an isolated condition or as a manifestation in the context of a congenital syndrome (see MOLECULAR GENETICS and Dobyns, 1996). Also see mirror movements-1 and/or agenesis of the corpus callosum (MRMV1; 157600). Schell-Apacik et al. (2008) noted that there is confusion in the literature regarding radiologic terminology concerning partial absence of the corpus callosum, where various designations have been used, including hypogenesis, hypoplasia, partial agenesis, or dysgenesis.
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.
Limb ataxia
MedGen UID:
196692
Concept ID:
C0750937
Finding
A kind of ataxia that affects movements of the extremities.
Developmental regression
MedGen UID:
324613
Concept ID:
C1836830
Disease or Syndrome
Loss of developmental skills, as manifested by loss of developmental milestones.
Severe global developmental delay
MedGen UID:
332436
Concept ID:
C1837397
Finding
A severe delay in the achievement of motor or mental milestones in the domains of development of a child.
Oculomotor apraxia
MedGen UID:
483686
Concept ID:
C3489733
Disease or Syndrome
Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.
Pachygyria
MedGen UID:
504794
Concept ID:
CN001193
Finding
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Idiopathic camptocormia
MedGen UID:
120496
Concept ID:
C0264162
Finding
An abnormal forward-flexed posture e.g. forward flexion of the spine, which is noticeable when standing or walking but disappears when lying down. It is becoming an increasingly recognized feature of Parkinson's disease and dystonic disorders.
Difficulty walking
MedGen UID:
86319
Concept ID:
C0311394
Finding
Reduced ability to walk (ambulate).
Facial hypotonia
MedGen UID:
336889
Concept ID:
C1845251
Finding
Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).
Axial hypotonia
MedGen UID:
342959
Concept ID:
C1853743
Finding
Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.
Appendicular hypotonia
MedGen UID:
868520
Concept ID:
C4022919
Finding
Muscular hypotonia of one or more limbs.
Microcephaly
MedGen UID:
1644158
Concept ID:
C4551563
Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Neonatal respiratory distress
MedGen UID:
924182
Concept ID:
C4281993
Finding
Respiratory difficulty as newborn.
Hyperkalemia
MedGen UID:
5691
Concept ID:
C0020461
Finding
An abnormally increased potassium concentration in the blood.
Increased circulating creatine kinase MB isoform
MedGen UID:
1690106
Concept ID:
C5139211
Finding
An increased concentration of the MB isoform of creatine kinase in the blood circulation.
Upslanted palpebral fissure
MedGen UID:
98390
Concept ID:
C0423109
Finding
The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
Long eyelashes
MedGen UID:
342955
Concept ID:
C1853738
Finding
Mid upper eyelash length >10 mm or increased length of the eyelashes (subjective).
Single umbilical artery
MedGen UID:
278026
Concept ID:
C1384670
Congenital Abnormality
Single umbilical artery (SUA) is the absence of one of the two umbilical arteries surrounding the fetal bladder and in the fetal umbilical cord.
Ptosis
MedGen UID:
2287
Concept ID:
C0005745
Disease or Syndrome
The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPsychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome

Professional guidelines

PubMed

Erhardt É, Molnár D
Nutrients 2022 May 6;14(9) doi: 10.3390/nu14091950. PMID: 35565916Free PMC Article
Meeusen R, Duclos M, Foster C, Fry A, Gleeson M, Nieman D, Raglin J, Rietjens G, Steinacker J, Urhausen A; European College of Sport Science; American College of Sports Medicine
Med Sci Sports Exerc 2013 Jan;45(1):186-205. doi: 10.1249/MSS.0b013e318279a10a. PMID: 23247672
Morgan T
Am Fam Physician 2007 Aug 1;76(3):405-10. PMID: 17708142

Recent clinical studies

Etiology

Dubovsky SL, Marshall D
Psychother Psychosom 2022;91(5):307-334. Epub 2022 May 3 doi: 10.1159/000524400. PMID: 35504267
Sienaert P, van Harten P, Rhebergen D
Handb Clin Neurol 2019;165:415-428. doi: 10.1016/B978-0-444-64012-3.00025-3. PMID: 31727227
van der Steen JT, Smaling HJ, van der Wouden JC, Bruinsma MS, Scholten RJ, Vink AC
Cochrane Database Syst Rev 2018 Jul 23;7(7):CD003477. doi: 10.1002/14651858.CD003477.pub4. PMID: 30033623Free PMC Article
van der Steen JT, van Soest-Poortvliet MC, van der Wouden JC, Bruinsma MS, Scholten RJ, Vink AC
Cochrane Database Syst Rev 2017 May 2;5(5):CD003477. doi: 10.1002/14651858.CD003477.pub3. PMID: 28462986Free PMC Article
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article

Diagnosis

Finsterer J, Scorza FA, Fiorini AC, Scorza CA
Pediatr Neurol 2020 Sep;110:25-29. Epub 2020 Jul 16 doi: 10.1016/j.pediatrneurol.2020.03.009. PMID: 32684373
Meeusen R, Duclos M, Foster C, Fry A, Gleeson M, Nieman D, Raglin J, Rietjens G, Steinacker J, Urhausen A; European College of Sport Science; American College of Sports Medicine
Med Sci Sports Exerc 2013 Jan;45(1):186-205. doi: 10.1249/MSS.0b013e318279a10a. PMID: 23247672
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Pereira PM, Schneider A, Pannetier S, Heron D, Hanauer A
Eur J Hum Genet 2010 Jun;18(6):627-33. Epub 2009 Nov 4 doi: 10.1038/ejhg.2009.189. PMID: 19888300Free PMC Article
Dauvilliers Y, Buguet A
Dialogues Clin Neurosci 2005;7(4):347-56. doi: 10.31887/DCNS.2005.7.4/ydauvilliers. PMID: 16416710Free PMC Article

Therapy

Dubovsky SL, Marshall D
Psychother Psychosom 2022;91(5):307-334. Epub 2022 May 3 doi: 10.1159/000524400. PMID: 35504267
Preskorn SH, Zeller S, Citrome L, Finman J, Goldberg JF, Fava M, Kakar R, De Vivo M, Yocca FD, Risinger R
JAMA 2022 Feb 22;327(8):727-736. doi: 10.1001/jama.2022.0799. PMID: 35191924Free PMC Article
Sienaert P, van Harten P, Rhebergen D
Handb Clin Neurol 2019;165:415-428. doi: 10.1016/B978-0-444-64012-3.00025-3. PMID: 31727227
van der Steen JT, Smaling HJ, van der Wouden JC, Bruinsma MS, Scholten RJ, Vink AC
Cochrane Database Syst Rev 2018 Jul 23;7(7):CD003477. doi: 10.1002/14651858.CD003477.pub4. PMID: 30033623Free PMC Article
van der Steen JT, van Soest-Poortvliet MC, van der Wouden JC, Bruinsma MS, Scholten RJ, Vink AC
Cochrane Database Syst Rev 2017 May 2;5(5):CD003477. doi: 10.1002/14651858.CD003477.pub3. PMID: 28462986Free PMC Article

Prognosis

Wolak JP
Emerg Med Clin North Am 2021 May;39(2):307-322. doi: 10.1016/j.emc.2021.01.008. PMID: 33863461
Cereda A, Carey JC
Orphanet J Rare Dis 2012 Oct 23;7:81. doi: 10.1186/1750-1172-7-81. PMID: 23088440Free PMC Article
Steinlein OK
Expert Rev Neurother 2009 Jun;9(6):825-33. doi: 10.1586/ern.09.49. PMID: 19496686
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
Marshall JD, Beck S, Maffei P, Naggert JK
Eur J Hum Genet 2007 Dec;15(12):1193-202. Epub 2007 Oct 17 doi: 10.1038/sj.ejhg.5201933. PMID: 17940554

Clinical prediction guides

Houry M, Bonnard M, Tourny C, Gilliaux M
Clin Biomech (Bristol, Avon) 2023 Jul;107:106029. Epub 2023 Jun 15 doi: 10.1016/j.clinbiomech.2023.106029. PMID: 37348207
Ella B, Ghorayeb I, Burbaud P, Guehl D
J Prosthodont 2017 Oct;26(7):599-605. Epub 2016 Apr 14 doi: 10.1111/jopr.12479. PMID: 27077925
Garavelli L, Mainardi PC
Orphanet J Rare Dis 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891Free PMC Article
de Koning TJ, Klomp LW
Curr Opin Neurol 2004 Apr;17(2):197-204. doi: 10.1097/00019052-200404000-00019. PMID: 15021249
Rose EA, King TC
Surg Gynecol Obstet 1978 Jul;147(1):97-102. PMID: 351838

Recent systematic reviews

Cuninghame S, Jerath A, Gorsky K, Sivajohan A, Francoeur C, Withington D, Burry L, Cuthbertson BH, Orser BA, Martin C, Owen AM, Slessarev M; Sedating with Volatile Anesthetics Critically Ill COVID-19 Patients in ICU: Effects on Ventilatory Parameters and Survival study investigators
Br J Anaesth 2023 Aug;131(2):314-327. Epub 2023 Jun 19 doi: 10.1016/j.bja.2023.05.004. PMID: 37344338
Monahan K, Cuzens-Sutton J, Siskind D, Kisely S
Aust N Z J Psychiatry 2021 Aug;55(8):772-783. Epub 2020 Oct 16 doi: 10.1177/0004867420965693. PMID: 33059460
Kaczorowska N, Kaczorowski K, Laskowska J, Mikulewicz M
Adv Clin Exp Med 2019 Nov;28(11):1587-1592. doi: 10.17219/acem/112785. PMID: 31778604
van der Steen JT, Smaling HJ, van der Wouden JC, Bruinsma MS, Scholten RJ, Vink AC
Cochrane Database Syst Rev 2018 Jul 23;7(7):CD003477. doi: 10.1002/14651858.CD003477.pub4. PMID: 30033623Free PMC Article
van der Steen JT, van Soest-Poortvliet MC, van der Wouden JC, Bruinsma MS, Scholten RJ, Vink AC
Cochrane Database Syst Rev 2017 May 2;5(5):CD003477. doi: 10.1002/14651858.CD003477.pub3. PMID: 28462986Free PMC Article

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