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Bipolar affective disorder(BPAD)

MedGen UID:
2649
Concept ID:
C0005586
Mental or Behavioral Dysfunction
Synonym: Bipolar disorder
SNOMED CT: Manic-depressive psychosis (13746004); Manic-depressive illness (13746004); MDI - Manic-depressive illness (13746004); Bipolar disorder (13746004); Bipolar affective disorder (13746004)
 
HPO: HP:0007302
Monarch Initiative: MONDO:0004985
OMIM®: 611535

Definition

Bipolar disorder is an illness of mood characterized by alternating episodes of elevated and depressed moods, which are interspersed with euthymic periods. [from HPO]

Conditions with this feature

DiGeorge syndrome
MedGen UID:
4297
Concept ID:
C0012236
Disease or Syndrome
Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. The major clinical manifestations of 22q11.2DS include congenital heart disease, particularly conotruncal malformations (ventricular septal defect, tetralogy of Fallot, interrupted aortic arch, and truncus arteriosus), palatal abnormalities (velopharyngeal incompetence, submucosal cleft palate, bifid uvula, and cleft palate), immune deficiency, characteristic facial features, and learning difficulties. Hearing loss can be sensorineural and/or conductive. Laryngotracheoesophageal, gastrointestinal, ophthalmologic, central nervous system, skeletal, and genitourinary anomalies also occur. Psychiatric illness and autoimmune disorders are more common in individuals with 22q11.2DS.
Keratosis follicularis
MedGen UID:
5956
Concept ID:
C0022595
Disease or Syndrome
Darier-White disease (DAR), also known as keratosis follicularis, is an autosomal dominant skin disorder characterized by warty papules and plaques in seborrheic areas (central trunk, flexures, scalp, and forehead), palmoplantar pits, and distinctive nail abnormalities (Sakuntabhai et al., 1999). Onset is usually before the third decade, and penetrance is complete in adults, although expressivity is variable. Involvement may be severe, with widespread itchy malodorous crusted plaques, painful erosions, blistering, and mucosal lesions. Secondary infection is common. Sun, heat, and sweating exacerbate the symptoms. Darier disease never remits, but oral retinoids may reduce hyperkeratosis. Neuropsychiatric abnormalities, including mild mental retardation and epilepsy, have been described in association with Darier disease in a few families (Burge and Wilkinson, 1992); whether this is an association based on pleiotropism of the mutant gene or reflects coincidence is not clear. Histologic findings are (1) mild nonspecific perivascular infiltration in the dermis; (2) dermal villi protruding into the epidermis; (3) suprabasal detachment of the spinal layer leading to the formation of lacunae containing acantholytic cells; (4) in the more superficial epidermis, dyskeratotic round epidermal cells ('corps ronds'), the most distinctive feature; and (5) in the stratum corneum, 'grains' that resemble parakeratotic cells embedded in a hyperkeratotic horny layer. Electron microscopy reveals loss of desmosomal attachments, perinuclear aggregations of keratin filaments, and cytoplasmic vacuolization. Ultrastructural and immunologic studies suggest the disease results from an abnormality in the desmosome-keratin filament complex leading to a breakdown in cell adhesion.
Gomez Lopez Hernandez syndrome
MedGen UID:
163201
Concept ID:
C0795959
Disease or Syndrome
Gomez-Lopez-Hernandez syndrome (GLHS), also known as cerebellotrigeminal dermal dysplasia, is a rare neurocutaneous syndrome classically characterized by the triad of rhombencephalosynapsis, trigeminal anesthesia, often giving rise to corneal opacities, and bilateral parietal or parietooccipital alopecia. However, trigeminal anesthesia is an inconsistent finding (summary by Sukhudyan et al., 2010).
Intellectual disability, X-linked 49
MedGen UID:
923000
Concept ID:
C0796221
Disease or Syndrome
CLCN4-related neurodevelopmental disorder (CLCN4-NDD), an X-linked disorder, is characterized in the 36 males reported to date by developmental delay or intellectual disability, behavioral/mental health issues (e.g., autism spectrum disorder, anxiety, hyperactivity, and bipolar disorder), epilepsy, and gastrointestinal dysfunction. The five heterozygous females with a de novo CLCN4 variant reported to date had findings very similar to those of affected males. Twenty-two of 25 heterozygous females identified in family studies following identification of an affected male were unaffected or had only mild specific learning difficulties and/or mental health concerns, whereas three were more severely affected.
Lithium transport
MedGen UID:
331956
Concept ID:
C1835356
Finding
Major affective disorder 2
MedGen UID:
326975
Concept ID:
C1839839
Mental or Behavioral Dysfunction
Basal ganglia calcification, idiopathic, 4
MedGen UID:
767235
Concept ID:
C3554321
Disease or Syndrome
Primary familial brain calcification (PFBC) is a neurodegenerative disorder with characteristic calcium deposits in the basal ganglia and other brain areas visualized on neuroimaging. Most affected individuals are in good health during childhood and young adulthood and typically present in the fourth to fifth decade with a gradually progressive movement disorder and neuropsychiatric symptoms. The movement disorder first manifests as clumsiness, fatigability, unsteady gait, slow or slurred speech, dysphagia, involuntary movements, or muscle cramping. Neuropsychiatric symptoms, often the first or most prominent manifestations, range from mild difficulty with concentration and memory to changes in personality and/or behavior, to psychosis and dementia. Seizures of various types occur frequently, some individuals experience chronic headache and vertigo; urinary urgency or incontinence may be present.
Chromosome 22q13 duplication syndrome
MedGen UID:
816174
Concept ID:
C3809844
Disease or Syndrome
Schizophrenia 19
MedGen UID:
1613937
Concept ID:
C4539944
Mental or Behavioral Dysfunction
Lissencephaly 10
MedGen UID:
1719546
Concept ID:
C5394354
Disease or Syndrome
Lissencephaly-10 (LIS10) is a neurologic disorder characterized by variably delayed development with mildly to moderately impaired intellectual development and language delay, as well as seizures, which are often intractable. There is a spectrum of severity, with some patients having normal early development and only borderline to mild cognitive impairment. Brain imaging shows features consistent with neuronal migration defects, including posterior-predominant lissencephaly, pachygyria, agyria, and subcortical band heterotopia (summary by Tsai et al., 2020). For a general description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Dystonia 30
MedGen UID:
1785079
Concept ID:
C5543312
Disease or Syndrome
Dystonia-30 (DYT30) is an autosomal dominant neurologic disorder characterized by the onset of symptoms in the first decades of life. Patients present with oromandibular, cervical, bulbar, or upper limb dystonia, and usually show slow progression to generalized dystonia. Some patients may lose ambulation. A subset of patients may also have neurocognitive impairment, including mild intellectual disability or psychiatric manifestations (summary by Steel et al., 2020). In a review of the pathogenesis of disorders with prominent dystonia, Monfrini et al. (2021) classified DYT30 as belonging to a group of neurologic disorders termed 'HOPS-associated neurologic disorders' (HOPSANDs), which are caused by mutations in genes encoding various components of the autophagic/endolysosomal system, including VPS16.
Intellectual developmental disorder, autosomal dominant 67
MedGen UID:
1805690
Concept ID:
C5677006
Mental or Behavioral Dysfunction
Autosomal dominant intellectual developmental disorder-67 (MRD67) is characterized by global developmental delay with variably impaired intellectual development apparent from infancy or early childhood. Additional features may include behavioral abnormalities, such as autism spectrum disorder (ASD) and ADHD, as well as language and sleeping difficulties. Brain imaging is normal (Ismail et al., 2022).

Professional guidelines

PubMed

Howes OD, Thase ME, Pillinger T
Mol Psychiatry 2022 Jan;27(1):58-72. Epub 2021 Jul 13 doi: 10.1038/s41380-021-01200-3. PMID: 34257409Free PMC Article
Cichoń L, Janas-Kozik M, Siwiec A, Rybakowski JK
Psychiatr Pol 2020 Mar 29;54(1):35-50. doi: 10.12740/PP/OnlineFirst/92740. PMID: 32447355
Taiminen T
Duodecim 2017;133(1):52-60. PMID: 29199810

Curated

UK NICE Clinical Guideline CG185, Bipolar disorder: assessment and management, 2023

UK NICE Clinical Guideline CG192, Antenatal and postnatal mental health: clinical management and service guidance, 2020

Recent clinical studies

Etiology

Chmiel I
Psychiatr Pol 2022 Dec 31;56(6):1345-1363. doi: 10.12740/PP/OnlineFirst/136356. PMID: 37098202
Zubair UB, Mumtaz H, Mansoor S
J Coll Physicians Surg Pak 2018 Mar;28(3):S63-S65. doi: 10.29271/jcpsp.2018.03.S63. PMID: 29482712
Pal A, Sharan P, Chadda RK
Psychiatry Res 2017 Dec;258:158-165. Epub 2017 Oct 3 doi: 10.1016/j.psychres.2017.09.087. PMID: 29028582
Howes OD, Falkenberg I
Curr Psychiatry Rep 2011 Dec;13(6):493-9. doi: 10.1007/s11920-011-0229-8. PMID: 21850462Free PMC Article
Howes OD, Lim S, Theologos G, Yung AR, Goodwin GM, McGuire P
Psychol Med 2011 Aug;41(8):1567-77. Epub 2010 Sep 14 doi: 10.1017/S0033291710001790. PMID: 20836910Free PMC Article

Diagnosis

O'Neill JR, Stephenson C
Psychopharmacol Bull 2022 Feb 25;52(1):61-67. PMID: 35342202Free PMC Article
Miller B, Llibre Guerra JJ
Handb Clin Neurol 2019;165:33-45. doi: 10.1016/B978-0-444-64012-3.00003-4. PMID: 31727221
Pilszyk A, Silczuk A, Habrat B, Heitzman J
Psychiatr Pol 2018 Feb 28;52(1):45-54. doi: 10.12740/PP/70463. PMID: 29704413
Howes OD, Falkenberg I
Curr Psychiatry Rep 2011 Dec;13(6):493-9. doi: 10.1007/s11920-011-0229-8. PMID: 21850462Free PMC Article
Howes OD, Lim S, Theologos G, Yung AR, Goodwin GM, McGuire P
Psychol Med 2011 Aug;41(8):1567-77. Epub 2010 Sep 14 doi: 10.1017/S0033291710001790. PMID: 20836910Free PMC Article

Therapy

Chmiel I
Psychiatr Pol 2022 Dec 31;56(6):1345-1363. doi: 10.12740/PP/OnlineFirst/136356. PMID: 37098202
O'Neill JR, Stephenson C
Psychopharmacol Bull 2022 Feb 25;52(1):61-67. PMID: 35342202Free PMC Article
Cichoń L, Janas-Kozik M, Siwiec A, Rybakowski JK
Psychiatr Pol 2020 Mar 29;54(1):35-50. doi: 10.12740/PP/OnlineFirst/92740. PMID: 32447355
Miller B, Llibre Guerra JJ
Handb Clin Neurol 2019;165:33-45. doi: 10.1016/B978-0-444-64012-3.00003-4. PMID: 31727221
Baird-Gunning J, Lea-Henry T, Hoegberg LCG, Gosselin S, Roberts DM
J Intensive Care Med 2017 May;32(4):249-263. Epub 2016 Aug 11 doi: 10.1177/0885066616651582. PMID: 27516079

Prognosis

Tkachev A, Stekolshchikova E, Vanyushkina A, Zhang H, Morozova A, Zozulya S, Kurochkin I, Anikanov N, Egorova A, Yushina E, Vogl T, Senner F, Schaupp SK, Reich-Erkelenz D, Papiol S, Kohshour MO, Klöhn-Saghatolislam F, Kalman JL, Heilbronner U, Heilbronner M, Gade K, Comes AL, Budde M, Anderson-Schmidt H, Adorjan K, Wiltfang J, Reininghaus EZ, Juckel G, Dannlowski U, Fallgatter A, Spitzer C, Schmauß M, von Hagen M, Zorkina Y, Reznik A, Barkhatova A, Lisov R, Mokrov N, Panov M, Zubkov D, Petrova D, Zhou C, Liu Y, Pu J, Falkai P, Kostyuk G, Klyushnik T, Schulze TG, Xie P, Schulte EC, Khaitovich P
JAMA Psychiatry 2023 Mar 1;80(3):250-259. doi: 10.1001/jamapsychiatry.2022.4350. PMID: 36696101Free PMC Article
Cichoń L, Janas-Kozik M, Siwiec A, Rybakowski JK
Psychiatr Pol 2020 Mar 29;54(1):35-50. doi: 10.12740/PP/OnlineFirst/92740. PMID: 32447355
Pawlak JM, Miechowicz I, Dmitrzak-Węglarz M, Szczepankiewicz A, Zaremba D, Kapelski P, Rajewska-Rager A, Czerski P, Skibińska M, Hauser J
Psychiatr Pol 2018 Feb 28;52(1):21-32. doi: 10.12740/PP/78974. PMID: 29704411
Taiminen T
Duodecim 2017;133(1):52-60. PMID: 29199810
Howes OD, Falkenberg I
Curr Psychiatry Rep 2011 Dec;13(6):493-9. doi: 10.1007/s11920-011-0229-8. PMID: 21850462Free PMC Article

Clinical prediction guides

Zubair UB, Mumtaz H, Mansoor S
J Coll Physicians Surg Pak 2018 Mar;28(3):S63-S65. doi: 10.29271/jcpsp.2018.03.S63. PMID: 29482712
Georgieva L, Rees E, Moran JL, Chambert KD, Milanova V, Craddock N, Purcell S, Sklar P, McCarroll S, Holmans P, O'Donovan MC, Owen MJ, Kirov G
Hum Mol Genet 2014 Dec 15;23(24):6677-83. Epub 2014 Jul 23 doi: 10.1093/hmg/ddu379. PMID: 25055870Free PMC Article
Howes OD, Falkenberg I
Curr Psychiatry Rep 2011 Dec;13(6):493-9. doi: 10.1007/s11920-011-0229-8. PMID: 21850462Free PMC Article
Thase ME
Dev Psychopathol 2006 Fall;18(4):1213-30. doi: 10.1017/S0954579406060585. PMID: 17064435
Petronis A, Kennedy JL
Am J Psychiatry 1995 Feb;152(2):164-72. doi: 10.1176/ajp.152.2.164. PMID: 7840347

Recent systematic reviews

Reilly S, Hobson-Merrett C, Gibbons B, Jones B, Richards D, Plappert H, Gibson J, Green M, Gask L, Huxley PJ, Druss BG, Planner CL
Cochrane Database Syst Rev 2024 May 7;5(5):CD009531. doi: 10.1002/14651858.CD009531.pub3. PMID: 38712709Free PMC Article
Quirk H, Crank H, Harrop D, Hock E, Copeland R
Syst Rev 2017 Oct 25;6(1):214. doi: 10.1186/s13643-017-0596-2. PMID: 29070081Free PMC Article
Chiang KJ, Tsai JC, Liu D, Lin CH, Chiu HL, Chou KR
PLoS One 2017;12(5):e0176849. Epub 2017 May 4 doi: 10.1371/journal.pone.0176849. PMID: 28472082Free PMC Article
Palmier-Claus JE, Berry K, Bucci S, Mansell W, Varese F
Br J Psychiatry 2016 Dec;209(6):454-459. Epub 2016 Oct 6 doi: 10.1192/bjp.bp.115.179655. PMID: 27758835
Reilly S, Planner C, Gask L, Hann M, Knowles S, Druss B, Lester H
Cochrane Database Syst Rev 2013 Nov 4;(11):CD009531. doi: 10.1002/14651858.CD009531.pub2. PMID: 24190251

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      See practice and clinical guidelines in NCBI Bookshelf. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Curated

    • NICE, 2023
      UK NICE Clinical Guideline CG185, Bipolar disorder: assessment and management, 2023
    • NICE, 2020
      UK NICE Clinical Guideline CG192, Antenatal and postnatal mental health: clinical management and service guidance, 2020

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