For those who got the Jab it possible you'll be turned into a Zombie October 4th! From MedlinePlus Genetics
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems.
Chromosome 1p36 deletion syndrome(1p36)
- MedGen UID:
- 334629
- •Concept ID:
- C1842870
- •
- Disease or Syndrome
Synonyms: | 1p36; 1p36 Deletion Syndrome; 1p36 microdeletion syndrome ; 1p36.33 deletion; Monosomy 1p36 syndrome |
SNOMED CT: | Distal monosomy 1p36 (699306003); Monosomy 1p36 syndrome (699306003); Chromosome 1p36 deletion syndrome (699306003); 1p36 deletion syndrome (699306003) |
Modes of inheritance: | Non-Mendelian inheritance (Orphanet) Not genetically inherited (Orphanet) |
Monarch Initiative: | MONDO:0011929 |
OMIM®: | 607872 |
Orphanet: | ORPHA1606 |
Definition
The constitutional deletion of chromosome 1p36 results in a syndrome with multiple congenital anomalies and mental retardation (Shapira et al., 1997). Monosomy 1p36 is the most common terminal deletion syndrome in humans, occurring in 1 in 5,000 births (Shaffer and Lupski, 2000; Heilstedt et al., 2003). See also neurodevelopmental disorder with or without anomalies of the brain, eye, or heart (NEDBEH; 616975), which shows overlapping features and is caused by heterozygous mutation in the RERE gene (605226) on proximal chromosome 1p36. See also Radio-Tartaglia syndrome (RATARS; 619312), caused by mutation in the SPEN gene (613484) on chromosome 1p36, which shows overlapping features. [from OMIM]
Additional description
From MedlinePlus Genetics
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.
People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia. https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome
1p36 deletion syndrome is a disorder that typically causes severe intellectual disability. Most affected individuals do not speak, or speak only a few words. They may have temper tantrums, bite themselves, or exhibit other behavior problems. Most have structural abnormalities of the brain, and seizures occur in more than half of individuals with this disorder. Affected individuals usually have weak muscle tone (hypotonia) and swallowing difficulties (dysphagia).
People with 1p36 deletion syndrome have a small head that is also unusually short and wide in proportion to its size (microbrachycephaly). Affected individuals also have distinctive facial features including deep-set eyes with straight eyebrows; a sunken appearance of the middle of the face (midface hypoplasia); a broad, flat nose; a long area between the nose and mouth (philtrum); a pointed chin; and ears that are low-set, rotated backwards, and abnormally shaped.
People with 1p36 deletion syndrome may have vision or hearing problems. Some have abnormalities of the skeleton, heart, gastrointestinal system, kidneys, or genitalia. https://medlineplus.gov/genetics/condition/1p36-deletion-syndrome
Clinical features
From HPO
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of the cardiovascular system
- Abnormality of the digestive system
- Abnormality of the ear
- Abnormality of the endocrine system
- Abnormality of the eye
- Abnormality of the genitourinary system
- Abnormality of the integument
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Growth abnormality
Term Hierarchy
Recent clinical studies
Etiology
Kramer RJ, Fatahian AN, Chan A, Mortenson J, Osher J, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Birjiniuk A, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Martinez HR, Boudina S, Landstrom AP
Circ Genom Precis Med 2023 Aug;16(4):390-400. Epub 2023 Jul 3 doi: 10.1161/CIRCGEN.122.003912. PMID: 37395136Free PMC Article
Circ Genom Precis Med 2023 Aug;16(4):390-400. Epub 2023 Jul 3 doi: 10.1161/CIRCGEN.122.003912. PMID: 37395136Free PMC Article
Zhang X, He P, Han J, Pan M, Yang X, Zhen L, Liao C, Li DZ
J Matern Fetal Neonatal Med 2021 Jul;34(13):2180-2184. Epub 2019 Sep 4 doi: 10.1080/14767058.2019.1660764. PMID: 31446820
J Matern Fetal Neonatal Med 2021 Jul;34(13):2180-2184. Epub 2019 Sep 4 doi: 10.1080/14767058.2019.1660764. PMID: 31446820
Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F
Prenat Diagn 2019 Sep;39(10):871-882. Epub 2019 Jul 5 doi: 10.1002/pd.5498. PMID: 31172545
Prenat Diagn 2019 Sep;39(10):871-882. Epub 2019 Jul 5 doi: 10.1002/pd.5498. PMID: 31172545
Murakoshi M, Takasawa K, Nishioka M, Asakawa M, Kashimada K, Yoshimoto T, Yamamoto T, Takekoshi K, Ogawa Y, Shimohira M
Am J Med Genet A 2017 Feb;173(2):495-500. Epub 2016 Oct 24 doi: 10.1002/ajmg.a.38020. PMID: 27774766
Am J Med Genet A 2017 Feb;173(2):495-500. Epub 2016 Oct 24 doi: 10.1002/ajmg.a.38020. PMID: 27774766
Brazil A, Stanford K, Smolarek T, Hopkin R
Am J Med Genet A 2014 Oct;164A(10):2496-503. Epub 2014 Jul 8 doi: 10.1002/ajmg.a.36657. PMID: 25044719
Am J Med Genet A 2014 Oct;164A(10):2496-503. Epub 2014 Jul 8 doi: 10.1002/ajmg.a.36657. PMID: 25044719
Diagnosis
Zhang X, He P, Han J, Pan M, Yang X, Zhen L, Liao C, Li DZ
J Matern Fetal Neonatal Med 2021 Jul;34(13):2180-2184. Epub 2019 Sep 4 doi: 10.1080/14767058.2019.1660764. PMID: 31446820
J Matern Fetal Neonatal Med 2021 Jul;34(13):2180-2184. Epub 2019 Sep 4 doi: 10.1080/14767058.2019.1660764. PMID: 31446820
Carter LB, Battaglia A, Cherry A, Manning MA, Ruzhnikov MR, Bird LM, Dowsett L, Graham JM Jr, Alkuraya FS, Hashem M, Dinulos MB, Vallee S, Adam MP, Glass I, Beck AE, Stevens CA, Zackai E, McDougall C, Keena B, Peron A, Vignoli A, Seaver LH, Slavin TP, Hudgins L
Am J Med Genet A 2019 Aug;179(8):1543-1546. Epub 2019 Jun 17 doi: 10.1002/ajmg.a.61266. PMID: 31207089Free PMC Article
Am J Med Genet A 2019 Aug;179(8):1543-1546. Epub 2019 Jun 17 doi: 10.1002/ajmg.a.61266. PMID: 31207089Free PMC Article
Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F
Prenat Diagn 2019 Sep;39(10):871-882. Epub 2019 Jul 5 doi: 10.1002/pd.5498. PMID: 31172545
Prenat Diagn 2019 Sep;39(10):871-882. Epub 2019 Jul 5 doi: 10.1002/pd.5498. PMID: 31172545
Greco M, Ferrara P, Farello G, Striano P, Verrotti A
Epilepsy Res 2018 Jan;139:92-101. Epub 2017 Dec 2 doi: 10.1016/j.eplepsyres.2017.11.016. PMID: 29212048
Epilepsy Res 2018 Jan;139:92-101. Epub 2017 Dec 2 doi: 10.1016/j.eplepsyres.2017.11.016. PMID: 29212048
Rocha CF, Vasques RB, Santos SR, Paiva CL
Genet Mol Res 2016 Feb 22;15(1) doi: 10.4238/gmr.15017942. PMID: 26910004
Genet Mol Res 2016 Feb 22;15(1) doi: 10.4238/gmr.15017942. PMID: 26910004
Therapy
García-López J, Wallace K, Otero JH, Olsen R, Wang YD, Finkelstein D, Gudenas BL, Rehg JE, Northcott P, Davidoff AM, Freeman KW
Cell Rep 2020 Jan 14;30(2):454-464.e5. doi: 10.1016/j.celrep.2019.12.048. PMID: 31940489Free PMC Article
Cell Rep 2020 Jan 14;30(2):454-464.e5. doi: 10.1016/j.celrep.2019.12.048. PMID: 31940489Free PMC Article
Li X, Xu A, Sheng H, Ting TH, Mao X, Huang X, Jiang M, Cheng J, Liu L
Pediatr Diabetes 2018 Mar;19(2):251-258. Epub 2017 Aug 8 doi: 10.1111/pedi.12560. PMID: 28791793
Pediatr Diabetes 2018 Mar;19(2):251-258. Epub 2017 Aug 8 doi: 10.1111/pedi.12560. PMID: 28791793
Jackson D, Riley R, White IR
Stat Med 2011 Sep 10;30(20):2481-98. Epub 2011 Jan 26 doi: 10.1002/sim.4172. PMID: 21268052Free PMC Article
Stat Med 2011 Sep 10;30(20):2481-98. Epub 2011 Jan 26 doi: 10.1002/sim.4172. PMID: 21268052Free PMC Article
Prognosis
Kramer RJ, Fatahian AN, Chan A, Mortenson J, Osher J, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Birjiniuk A, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Martinez HR, Boudina S, Landstrom AP
Circ Genom Precis Med 2023 Aug;16(4):390-400. Epub 2023 Jul 3 doi: 10.1161/CIRCGEN.122.003912. PMID: 37395136Free PMC Article
Circ Genom Precis Med 2023 Aug;16(4):390-400. Epub 2023 Jul 3 doi: 10.1161/CIRCGEN.122.003912. PMID: 37395136Free PMC Article
Verrotti A, Greco M, Varriale G, Tamborino A, Savasta S, Carotenuto M, Elia M, Operto F, Margari L, Belcastro V, Selicorni A, Freri E, Matricardi S, Granata T, Ragona F, Capovilla G, Spalice A, Coppola G, Striano P
Acta Neurol Scand 2018 Dec;138(6):523-530. Epub 2018 Aug 14 doi: 10.1111/ane.13006. PMID: 30109707
Acta Neurol Scand 2018 Dec;138(6):523-530. Epub 2018 Aug 14 doi: 10.1111/ane.13006. PMID: 30109707
Welham A, Lau J, Moss J, Cullen J, Higgs S, Warren G, Wilde L, Marr A, Cook F, Oliver C
Am J Med Genet A 2015 Mar;167A(3):572-8. doi: 10.1002/ajmg.a.36923. PMID: 25691410
Am J Med Genet A 2015 Mar;167A(3):572-8. doi: 10.1002/ajmg.a.36923. PMID: 25691410
Shimada S, Shimojima K, Okamoto N, Sangu N, Hirasawa K, Matsuo M, Ikeuchi M, Shimakawa S, Shimizu K, Mizuno S, Kubota M, Adachi M, Saito Y, Tomiwa K, Haginoya K, Numabe H, Kako Y, Hayashi A, Sakamoto H, Hiraki Y, Minami K, Takemoto K, Watanabe K, Miura K, Chiyonobu T, Kumada T, Imai K, Maegaki Y, Nagata S, Kosaki K, Izumi T, Nagai T, Yamamoto T
Brain Dev 2015 May;37(5):515-26. Epub 2014 Aug 27 doi: 10.1016/j.braindev.2014.08.002. PMID: 25172301
Brain Dev 2015 May;37(5):515-26. Epub 2014 Aug 27 doi: 10.1016/j.braindev.2014.08.002. PMID: 25172301
Brazil A, Stanford K, Smolarek T, Hopkin R
Am J Med Genet A 2014 Oct;164A(10):2496-503. Epub 2014 Jul 8 doi: 10.1002/ajmg.a.36657. PMID: 25044719
Am J Med Genet A 2014 Oct;164A(10):2496-503. Epub 2014 Jul 8 doi: 10.1002/ajmg.a.36657. PMID: 25044719
Clinical prediction guides
Briegel W
Int J Environ Res Public Health 2021 Nov 17;18(22) doi: 10.3390/ijerph182212064. PMID: 34831818Free PMC Article
Int J Environ Res Public Health 2021 Nov 17;18(22) doi: 10.3390/ijerph182212064. PMID: 34831818Free PMC Article
Zhang X, He P, Han J, Pan M, Yang X, Zhen L, Liao C, Li DZ
J Matern Fetal Neonatal Med 2021 Jul;34(13):2180-2184. Epub 2019 Sep 4 doi: 10.1080/14767058.2019.1660764. PMID: 31446820
J Matern Fetal Neonatal Med 2021 Jul;34(13):2180-2184. Epub 2019 Sep 4 doi: 10.1080/14767058.2019.1660764. PMID: 31446820
Guterman S, Beneteau C, Redon S, Dupont C, Missirian C, Jaeger P, Herve B, Jacquin C, Douet-Guilbert N, Till M, Tabet AC, Moradkhani K, Malan V, Doco-Fenzy M, Vialard F
Prenat Diagn 2019 Sep;39(10):871-882. Epub 2019 Jul 5 doi: 10.1002/pd.5498. PMID: 31172545
Prenat Diagn 2019 Sep;39(10):871-882. Epub 2019 Jul 5 doi: 10.1002/pd.5498. PMID: 31172545
Greco M, Ferrara P, Farello G, Striano P, Verrotti A
Epilepsy Res 2018 Jan;139:92-101. Epub 2017 Dec 2 doi: 10.1016/j.eplepsyres.2017.11.016. PMID: 29212048
Epilepsy Res 2018 Jan;139:92-101. Epub 2017 Dec 2 doi: 10.1016/j.eplepsyres.2017.11.016. PMID: 29212048
Sangu N, Shimojima K, Shimada S, Ando T, Yamamoto T
Congenit Anom (Kyoto) 2014 May;54(2):82-6. doi: 10.1111/cga.12029. PMID: 24750553
Congenit Anom (Kyoto) 2014 May;54(2):82-6. doi: 10.1111/cga.12029. PMID: 24750553
Recent systematic reviews
Kramer RJ, Fatahian AN, Chan A, Mortenson J, Osher J, Sun B, Parker LE, Rosamilia MB, Potter KB, Moore K, Atkins SL, Rosenfeld JA, Birjiniuk A, Jones E, Howard TS, Kim JJ, Scott DA, Lalani S, Rouzbehani OMT, Kaplan S, Hathaway MA, Cohen JL, Asaki SY, Martinez HR, Boudina S, Landstrom AP
Circ Genom Precis Med 2023 Aug;16(4):390-400. Epub 2023 Jul 3 doi: 10.1161/CIRCGEN.122.003912. PMID: 37395136Free PMC Article
Circ Genom Precis Med 2023 Aug;16(4):390-400. Epub 2023 Jul 3 doi: 10.1161/CIRCGEN.122.003912. PMID: 37395136Free PMC Article