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Hypotrichosis-intellectual disability, Lopes type

MedGen UID:
797909
•Concept ID:
CN201347
•
Disease or Syndrome
Synonyms: hypotrichosis-intellectual disability, Lopes type; Lopes-Marques de Faria 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).
Autosomal recessive inheritance (Orphanet)
 
Monarch Initiative: MONDO:0016414
Orphanet: ORPHA2266

Definition

A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows, finger syndactyly, intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead, cheeks and ears, and upward-slanting palpebral fissures), hypoplasia of median and distal phalanges, and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHypotrichosis-intellectual disability, Lopes type
Follow this link to review classifications for Hypotrichosis-intellectual disability, Lopes type in Orphanet.

Professional guidelines

PubMed

Quantitative risk-benefit assessment of Portuguese fish and other seafood species consumption scenarios.
Carvalho C, Correia D, Severo M, Afonso C, Bandarra NM, Gonçalves S, Lourenço HM, Dias MG, Oliveira L, Nabais P, Carmona P, Monteiro S, Borges M, Lopes C, Torres D
Br J Nutr 2022 Nov 28;128(10):1997-2010. Epub 2021 Dec 7 doi: 10.1017/S0007114521004773. PMID: 34872627
Imaging features and safety and efficacy of endovascular stroke treatment: a meta-analysis of individual patient-level data.
Román LS, Menon BK, Blasco J, Hernández-Pérez M, Dávalos A, Majoie CBLM, Campbell BCV, Guillemin F, Lingsma H, Anxionnat R, Epstein J, Saver JL, Marquering H, Wong JH, Lopes D, Reimann G, Desal H, Dippel DWJ, Coutts S, du Mesnil de Rochemont R, Yavagal D, Ferre JC, Roos YBWEM, Liebeskind DS, Lenthall R, Molina C, Al Ajlan FS, Reddy V, Dowlatshahi D, Sourour NA, Oppenheim C, Mitha AP, Davis SM, Weimar C, van Oostenbrugge RJ, Cobo E, Kleinig TJ, Donnan GA, van der Lugt A, Demchuk AM, Berkhemer OA, Boers AMM, Ford GA, Muir KW, Brown BS, Jovin T, van Zwam WH, Mitchell PJ, Hill MD, White P, Bracard S, Goyal M; HERMES collaborators
Lancet Neurol 2018 Oct;17(10):895-904. Epub 2018 Sep 18 doi: 10.1016/S1474-4422(18)30242-4. PMID: 30264728

Recent clinical studies

Etiology

Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Diabetes Collaborators
Lancet 2023 Jul 15;402(10397):203-234. Epub 2023 Jun 22 doi: 10.1016/S0140-6736(23)01301-6. PMID: 37356446Free PMC Article
Aerobic and resistance exercise in heart failure inpatients: a scoping review.
Lopes I, Delgado B, Costa P, Padilha JM
Heart Fail Rev 2023 Sep;28(5):1077-1089. Epub 2023 Apr 13 doi: 10.1007/s10741-023-10311-8. PMID: 37046104
Effects of Pilates with and without elastic resistance on health variables in postmenopausal women with low back pain.
Castro JB, Lima VP, Mello DB, Lopes GC, Peixoto JC, Santos AOD, Nunes RA, Souza Vale RG
Pain Manag 2022 May;12(4):509-520. Epub 2022 Feb 14 doi: 10.2217/pmt-2021-0042. PMID: 35152706
Imaging features and safety and efficacy of endovascular stroke treatment: a meta-analysis of individual patient-level data.
Román LS, Menon BK, Blasco J, Hernández-Pérez M, Dávalos A, Majoie CBLM, Campbell BCV, Guillemin F, Lingsma H, Anxionnat R, Epstein J, Saver JL, Marquering H, Wong JH, Lopes D, Reimann G, Desal H, Dippel DWJ, Coutts S, du Mesnil de Rochemont R, Yavagal D, Ferre JC, Roos YBWEM, Liebeskind DS, Lenthall R, Molina C, Al Ajlan FS, Reddy V, Dowlatshahi D, Sourour NA, Oppenheim C, Mitha AP, Davis SM, Weimar C, van Oostenbrugge RJ, Cobo E, Kleinig TJ, Donnan GA, van der Lugt A, Demchuk AM, Berkhemer OA, Boers AMM, Ford GA, Muir KW, Brown BS, Jovin T, van Zwam WH, Mitchell PJ, Hill MD, White P, Bracard S, Goyal M; HERMES collaborators
Lancet Neurol 2018 Oct;17(10):895-904. Epub 2018 Sep 18 doi: 10.1016/S1474-4422(18)30242-4. PMID: 30264728
Disability in patients with multiple sclerosis: influence of insulin resistance, adiposity, and oxidative stress.
Oliveira SR, Simão AN, Kallaur AP, de Almeida ER, Morimoto HK, Lopes J, Dichi I, Kaimen-Maciel DR, Reiche EM
Nutrition 2014 Mar;30(3):268-73. doi: 10.1016/j.nut.2013.08.001. PMID: 24484677

Diagnosis

Comparison of efficiency of different self-assessment instruments for screening dysphonia.
Oliveira P, Lima HMO, Sousa MDS, Almeida LN, Silva HFD, Ugulino AC, Almeida AA, Lopes L
Codas 2023;35(2):e20210123. Epub 2023 Apr 17 doi: 10.1590/2317-1782/20232021123pt. PMID: 37075411Free PMC Article
Aerobic and resistance exercise in heart failure inpatients: a scoping review.
Lopes I, Delgado B, Costa P, Padilha JM
Heart Fail Rev 2023 Sep;28(5):1077-1089. Epub 2023 Apr 13 doi: 10.1007/s10741-023-10311-8. PMID: 37046104
Clinical findings of patients with hyperammonemia affected by urea cycle disorders with hepatic encephalopathy.
Lopes FF, Sitta A, de Moura Coelho D, Ribas GS, Faverzani JL, Dos Reis BG, Wajner M, Vargas CR
Int J Dev Neurosci 2022 Dec;82(8):772-788. Epub 2022 Sep 30 doi: 10.1002/jdn.10229. PMID: 36129623
Incidence, prevalence and characteristics of MS in São Miguel, an island in the Atlantic.
Lopes P, Martins A, Lopes J
Mult Scler Relat Disord 2020 Sep;44:102254. Epub 2020 Jun 2 doi: 10.1016/j.msard.2020.102254. PMID: 32562908
Obstructive Sleep Apnea and Wake-up Stroke - A 12 Months Prospective Longitudinal Study.
Barreto PR, Diniz DLO, Lopes JP, Barroso MC, Daniele TMDC, de Bruin PFC, de Bruin VMS
J Stroke Cerebrovasc Dis 2020 May;29(5):104564. Epub 2019 Dec 19 doi: 10.1016/j.jstrokecerebrovasdis.2019.104564. PMID: 31866199

Therapy

Aerobic and resistance exercise in heart failure inpatients: a scoping review.
Lopes I, Delgado B, Costa P, Padilha JM
Heart Fail Rev 2023 Sep;28(5):1077-1089. Epub 2023 Apr 13 doi: 10.1007/s10741-023-10311-8. PMID: 37046104
Effects of Pilates with and without elastic resistance on health variables in postmenopausal women with low back pain.
Castro JB, Lima VP, Mello DB, Lopes GC, Peixoto JC, Santos AOD, Nunes RA, Souza Vale RG
Pain Manag 2022 May;12(4):509-520. Epub 2022 Feb 14 doi: 10.2217/pmt-2021-0042. PMID: 35152706
Leprosy in elderly people and the profile of a retrospective cohort in an endemic region of the Brazilian Amazon.
Oliveira JSS, Reis ALMD, Margalho LP, Lopes GL, Silva ARD, Moraes NS, Xavier MB
PLoS Negl Trop Dis 2019 Sep;13(9):e0007709. Epub 2019 Sep 3 doi: 10.1371/journal.pntd.0007709. PMID: 31479442Free PMC Article
Imaging features and safety and efficacy of endovascular stroke treatment: a meta-analysis of individual patient-level data.
Román LS, Menon BK, Blasco J, Hernández-Pérez M, Dávalos A, Majoie CBLM, Campbell BCV, Guillemin F, Lingsma H, Anxionnat R, Epstein J, Saver JL, Marquering H, Wong JH, Lopes D, Reimann G, Desal H, Dippel DWJ, Coutts S, du Mesnil de Rochemont R, Yavagal D, Ferre JC, Roos YBWEM, Liebeskind DS, Lenthall R, Molina C, Al Ajlan FS, Reddy V, Dowlatshahi D, Sourour NA, Oppenheim C, Mitha AP, Davis SM, Weimar C, van Oostenbrugge RJ, Cobo E, Kleinig TJ, Donnan GA, van der Lugt A, Demchuk AM, Berkhemer OA, Boers AMM, Ford GA, Muir KW, Brown BS, Jovin T, van Zwam WH, Mitchell PJ, Hill MD, White P, Bracard S, Goyal M; HERMES collaborators
Lancet Neurol 2018 Oct;17(10):895-904. Epub 2018 Sep 18 doi: 10.1016/S1474-4422(18)30242-4. PMID: 30264728
Effects of aspirin plus extended-release dipyridamole versus clopidogrel and telmisartan on disability and cognitive function after recurrent stroke in patients with ischaemic stroke in the Prevention Regimen for Effectively Avoiding Second Strokes (PRoFESS) trial: a double-blind, active and placebo-controlled study.
Diener HC, Sacco RL, Yusuf S, Cotton D, Ounpuu S, Lawton WA, Palesch Y, Martin RH, Albers GW, Bath P, Bornstein N, Chan BP, Chen ST, Cunha L, Dahlöf B, De Keyser J, Donnan GA, Estol C, Gorelick P, Gu V, Hermansson K, Hilbrich L, Kaste M, Lu C, Machnig T, Pais P, Roberts R, Skvortsova V, Teal P, Toni D, VanderMaelen C, Voigt T, Weber M, Yoon BW; Prevention Regimen for Effectively Avoiding Second Strokes (PRoFESS) study group
Lancet Neurol 2008 Oct;7(10):875-84. Epub 2008 Aug 29 doi: 10.1016/S1474-4422(08)70198-4. PMID: 18757238Free PMC Article

Prognosis

Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Diabetes Collaborators
Lancet 2023 Jul 15;402(10397):203-234. Epub 2023 Jun 22 doi: 10.1016/S0140-6736(23)01301-6. PMID: 37356446Free PMC Article
Incidence, prevalence and characteristics of MS in São Miguel, an island in the Atlantic.
Lopes P, Martins A, Lopes J
Mult Scler Relat Disord 2020 Sep;44:102254. Epub 2020 Jun 2 doi: 10.1016/j.msard.2020.102254. PMID: 32562908
Obstructive Sleep Apnea and Wake-up Stroke - A 12 Months Prospective Longitudinal Study.
Barreto PR, Diniz DLO, Lopes JP, Barroso MC, Daniele TMDC, de Bruin PFC, de Bruin VMS
J Stroke Cerebrovasc Dis 2020 May;29(5):104564. Epub 2019 Dec 19 doi: 10.1016/j.jstrokecerebrovasdis.2019.104564. PMID: 31866199
Immune-Inflammatory and Oxidative and Nitrosative Stress Biomarkers of Depression Symptoms in Subjects with Multiple Sclerosis: Increased Peripheral Inflammation but Less Acute Neuroinflammation.
Kallaur AP, Lopes J, Oliveira SR, Simão AN, Reiche EM, de Almeida ER, Morimoto HK, de Pereira WL, Alfieri DF, Borelli SD, Kaimen-Maciel DR, Maes M
Mol Neurobiol 2016 Oct;53(8):5191-202. Epub 2015 Sep 24 doi: 10.1007/s12035-015-9443-4. PMID: 26399644
Effects of aspirin plus extended-release dipyridamole versus clopidogrel and telmisartan on disability and cognitive function after recurrent stroke in patients with ischaemic stroke in the Prevention Regimen for Effectively Avoiding Second Strokes (PRoFESS) trial: a double-blind, active and placebo-controlled study.
Diener HC, Sacco RL, Yusuf S, Cotton D, Ounpuu S, Lawton WA, Palesch Y, Martin RH, Albers GW, Bath P, Bornstein N, Chan BP, Chen ST, Cunha L, Dahlöf B, De Keyser J, Donnan GA, Estol C, Gorelick P, Gu V, Hermansson K, Hilbrich L, Kaste M, Lu C, Machnig T, Pais P, Roberts R, Skvortsova V, Teal P, Toni D, VanderMaelen C, Voigt T, Weber M, Yoon BW; Prevention Regimen for Effectively Avoiding Second Strokes (PRoFESS) study group
Lancet Neurol 2008 Oct;7(10):875-84. Epub 2008 Aug 29 doi: 10.1016/S1474-4422(08)70198-4. PMID: 18757238Free PMC Article

Clinical prediction guides

Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021.
GBD 2021 Diabetes Collaborators
Lancet 2023 Jul 15;402(10397):203-234. Epub 2023 Jun 22 doi: 10.1016/S0140-6736(23)01301-6. PMID: 37356446Free PMC Article
Aerobic and resistance exercise in heart failure inpatients: a scoping review.
Lopes I, Delgado B, Costa P, Padilha JM
Heart Fail Rev 2023 Sep;28(5):1077-1089. Epub 2023 Apr 13 doi: 10.1007/s10741-023-10311-8. PMID: 37046104
Incidence, prevalence and characteristics of MS in São Miguel, an island in the Atlantic.
Lopes P, Martins A, Lopes J
Mult Scler Relat Disord 2020 Sep;44:102254. Epub 2020 Jun 2 doi: 10.1016/j.msard.2020.102254. PMID: 32562908
Imaging features and safety and efficacy of endovascular stroke treatment: a meta-analysis of individual patient-level data.
Román LS, Menon BK, Blasco J, Hernández-Pérez M, Dávalos A, Majoie CBLM, Campbell BCV, Guillemin F, Lingsma H, Anxionnat R, Epstein J, Saver JL, Marquering H, Wong JH, Lopes D, Reimann G, Desal H, Dippel DWJ, Coutts S, du Mesnil de Rochemont R, Yavagal D, Ferre JC, Roos YBWEM, Liebeskind DS, Lenthall R, Molina C, Al Ajlan FS, Reddy V, Dowlatshahi D, Sourour NA, Oppenheim C, Mitha AP, Davis SM, Weimar C, van Oostenbrugge RJ, Cobo E, Kleinig TJ, Donnan GA, van der Lugt A, Demchuk AM, Berkhemer OA, Boers AMM, Ford GA, Muir KW, Brown BS, Jovin T, van Zwam WH, Mitchell PJ, Hill MD, White P, Bracard S, Goyal M; HERMES collaborators
Lancet Neurol 2018 Oct;17(10):895-904. Epub 2018 Sep 18 doi: 10.1016/S1474-4422(18)30242-4. PMID: 30264728
Effects of aspirin plus extended-release dipyridamole versus clopidogrel and telmisartan on disability and cognitive function after recurrent stroke in patients with ischaemic stroke in the Prevention Regimen for Effectively Avoiding Second Strokes (PRoFESS) trial: a double-blind, active and placebo-controlled study.
Diener HC, Sacco RL, Yusuf S, Cotton D, Ounpuu S, Lawton WA, Palesch Y, Martin RH, Albers GW, Bath P, Bornstein N, Chan BP, Chen ST, Cunha L, Dahlöf B, De Keyser J, Donnan GA, Estol C, Gorelick P, Gu V, Hermansson K, Hilbrich L, Kaste M, Lu C, Machnig T, Pais P, Roberts R, Skvortsova V, Teal P, Toni D, VanderMaelen C, Voigt T, Weber M, Yoon BW; Prevention Regimen for Effectively Avoiding Second Strokes (PRoFESS) study group
Lancet Neurol 2008 Oct;7(10):875-84. Epub 2008 Aug 29 doi: 10.1016/S1474-4422(08)70198-4. PMID: 18757238Free PMC Article

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