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CAMOS syndrome

MedGen UID:
1387501
•Concept ID:
C4511633
•
Disease or Syndrome
Synonyms: CAMOS; CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome; cerebellar ataxia with intellectual disability optic atrophy and skin abnormalities; cerebellar ataxia with mental retardation optic atrophy and skin abnormalities; Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome; Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome; SCAR5; SCAR5 - spinocerebellar ataxia autosomal recessive 5; spinocerebellar ataxia autosomal recessive 5
SNOMED CT: CAMOS syndrome (726031001); CAMOS (cerebellar ataxia, mental retardation, optic atrophy, skin abnormalities) syndrome (726031001); Cerebellar ataxia, intellectual disability, optic atrophy, skin abnormalities syndrome (726031001); SCAR5 - spinocerebellar ataxia autosomal recessive 5 (726031001)
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:0019374
Orphanet: ORPHA83472

Definition

Syndrome with the association of a non-progressive congenital ataxia, severe intellectual deficit, optic atrophy and structural anomalies of the skin vessels. It has been described in five children from a large consanguineous Lebanese family. Short stature and microcephaly were also reported. Transmission is autosomal recessive. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCAMOS syndrome

Professional guidelines

PubMed

Genotype-phenotype correlations in Peutz-Jeghers syndrome.
Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, Nations L, Lynch PM, Fidder HH, Friedman E, Frazier ML
J Med Genet 2004 May;41(5):327-33. doi: 10.1136/jmg.2003.010900. PMID: 15121768Free PMC Article

Recent clinical studies

Etiology

Differences in cardio-ankle vascular index in a general Mediterranean population depending on the presence or absence of metabolic cardiovascular risk factors.
Martí-Lluch R, Garcia-Gil MDM, Camós L, Comas-Cufí M, Elosua-Bayés M, Blanch J, Ponjoan A, Alves-Cabratosa L, Elosua R, Grau M, Marrugat J, Ramos R
Atherosclerosis 2017 Sep;264:29-35. Epub 2017 Jul 13 doi: 10.1016/j.atherosclerosis.2017.07.013. PMID: 28756313
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Lévy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M
Hum Mutat 2015 Nov;36(11):1021-8. Epub 2015 Aug 6 doi: 10.1002/humu.22828. PMID: 26123727Free PMC Article
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.
Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell M, Naudó M, Camós M, Rives S
Pediatr Blood Cancer 2015 Jul;62(7):1195-201. Epub 2015 Apr 8 doi: 10.1002/pbc.25457. PMID: 25855413
Multilineage dysplasia is associated with a poorer prognosis in patients with de novo acute myeloid leukemia with intermediate-risk cytogenetics and wild-type NPM1.
Rozman M, Navarro JT, Arenillas L, Aventín A, Giménez T, Alonso E, Perea G, Camós M, Navarrete M, Tuset E, Florensa L, Millá F, Nomdedéu J, de la Banda E, Díaz-Beyá M, Pratcorona M, Garrido A, Navarro B, Brunet S, Sierra J, Esteve J; Grup Català de Citologia Hematològica and Spanish CETLAM Group (Grupo Cooperativo Para el Estudio y Tratamiento de las Leucemias Agudas Mieloblásticas)
Ann Hematol 2014 Oct;93(10):1695-703. Epub 2014 May 14 doi: 10.1007/s00277-014-2100-6. PMID: 24824767
The effect of post-discharge educational intervention on patients in achieving objectives in modifiable risk factors six months after discharge following an episode of acute coronary syndrome, (CAM-2 Project): a randomized controlled trial.
Muñiz J, Gómez-Doblas JJ, Santiago-Pérez MI, Lekuona-Goya I, Murga-Eizagaetxebarría N, de Teresa-Galván SS E, Cruz-Fernández JM, Castro-Beiras A; CAM2 Project working group
Health Qual Life Outcomes 2010 Nov 22;8:137. doi: 10.1186/1477-7525-8-137. PMID: 21092191Free PMC Article

Diagnosis

Differences in cardio-ankle vascular index in a general Mediterranean population depending on the presence or absence of metabolic cardiovascular risk factors.
Martí-Lluch R, Garcia-Gil MDM, Camós L, Comas-Cufí M, Elosua-Bayés M, Blanch J, Ponjoan A, Alves-Cabratosa L, Elosua R, Grau M, Marrugat J, Ramos R
Atherosclerosis 2017 Sep;264:29-35. Epub 2017 Jul 13 doi: 10.1016/j.atherosclerosis.2017.07.013. PMID: 28756313
WDR73 Mutations Cause Infantile Neurodegeneration and Variable Glomerular Kidney Disease.
Vodopiutz J, Seidl R, Prayer D, Khan MI, Mayr JA, Streubel B, Steiß JO, Hahn A, Csaicsich D, Castro C, Assoum M, Müller T, Wieczorek D, Mancini GM, Sadowski CE, Lévy N, Mégarbané A, Godbole K, Schanze D, Hildebrandt F, Delague V, Janecke AR, Zenker M
Hum Mutat 2015 Nov;36(11):1021-8. Epub 2015 Aug 6 doi: 10.1002/humu.22828. PMID: 26123727Free PMC Article
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.
Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell M, Naudó M, Camós M, Rives S
Pediatr Blood Cancer 2015 Jul;62(7):1195-201. Epub 2015 Apr 8 doi: 10.1002/pbc.25457. PMID: 25855413
Syndromic albinism and haemophagocytosis.
Berrueco R, Rives S, Camós M, Toll T, Catalá A, Estella J
Br J Haematol 2010 Mar;148(6):815. Epub 2009 Sep 18 doi: 10.1111/j.1365-2141.2009.07885.x. PMID: 19764984
Genotype-phenotype correlations in Peutz-Jeghers syndrome.
Amos CI, Keitheri-Cheteri MB, Sabripour M, Wei C, McGarrity TJ, Seldin MF, Nations L, Lynch PM, Fidder HH, Friedman E, Frazier ML
J Med Genet 2004 May;41(5):327-33. doi: 10.1136/jmg.2003.010900. PMID: 15121768Free PMC Article

Therapy

Differences in cardio-ankle vascular index in a general Mediterranean population depending on the presence or absence of metabolic cardiovascular risk factors.
Martí-Lluch R, Garcia-Gil MDM, Camós L, Comas-Cufí M, Elosua-Bayés M, Blanch J, Ponjoan A, Alves-Cabratosa L, Elosua R, Grau M, Marrugat J, Ramos R
Atherosclerosis 2017 Sep;264:29-35. Epub 2017 Jul 13 doi: 10.1016/j.atherosclerosis.2017.07.013. PMID: 28756313
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.
Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell M, Naudó M, Camós M, Rives S
Pediatr Blood Cancer 2015 Jul;62(7):1195-201. Epub 2015 Apr 8 doi: 10.1002/pbc.25457. PMID: 25855413
The effect of post-discharge educational intervention on patients in achieving objectives in modifiable risk factors six months after discharge following an episode of acute coronary syndrome, (CAM-2 Project): a randomized controlled trial.
Muñiz J, Gómez-Doblas JJ, Santiago-Pérez MI, Lekuona-Goya I, Murga-Eizagaetxebarría N, de Teresa-Galván SS E, Cruz-Fernández JM, Castro-Beiras A; CAM2 Project working group
Health Qual Life Outcomes 2010 Nov 22;8:137. doi: 10.1186/1477-7525-8-137. PMID: 21092191Free PMC Article

Prognosis

Differences in cardio-ankle vascular index in a general Mediterranean population depending on the presence or absence of metabolic cardiovascular risk factors.
Martí-Lluch R, Garcia-Gil MDM, Camós L, Comas-Cufí M, Elosua-Bayés M, Blanch J, Ponjoan A, Alves-Cabratosa L, Elosua R, Grau M, Marrugat J, Ramos R
Atherosclerosis 2017 Sep;264:29-35. Epub 2017 Jul 13 doi: 10.1016/j.atherosclerosis.2017.07.013. PMID: 28756313
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.
Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell M, Naudó M, Camós M, Rives S
Pediatr Blood Cancer 2015 Jul;62(7):1195-201. Epub 2015 Apr 8 doi: 10.1002/pbc.25457. PMID: 25855413
Multilineage dysplasia is associated with a poorer prognosis in patients with de novo acute myeloid leukemia with intermediate-risk cytogenetics and wild-type NPM1.
Rozman M, Navarro JT, Arenillas L, Aventín A, Giménez T, Alonso E, Perea G, Camós M, Navarrete M, Tuset E, Florensa L, Millá F, Nomdedéu J, de la Banda E, Díaz-Beyá M, Pratcorona M, Garrido A, Navarro B, Brunet S, Sierra J, Esteve J; Grup Català de Citologia Hematològica and Spanish CETLAM Group (Grupo Cooperativo Para el Estudio y Tratamiento de las Leucemias Agudas Mieloblásticas)
Ann Hematol 2014 Oct;93(10):1695-703. Epub 2014 May 14 doi: 10.1007/s00277-014-2100-6. PMID: 24824767
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V
Eur J Hum Genet 2010 Oct;18(10):1107-13. Epub 2010 Jun 9 doi: 10.1038/ejhg.2010.82. PMID: 20531441Free PMC Article
Syndromic albinism and haemophagocytosis.
Berrueco R, Rives S, Camós M, Toll T, Catalá A, Estella J
Br J Haematol 2010 Mar;148(6):815. Epub 2009 Sep 18 doi: 10.1111/j.1365-2141.2009.07885.x. PMID: 19764984

Clinical prediction guides

Differences in cardio-ankle vascular index in a general Mediterranean population depending on the presence or absence of metabolic cardiovascular risk factors.
Martí-Lluch R, Garcia-Gil MDM, Camós L, Comas-Cufí M, Elosua-Bayés M, Blanch J, Ponjoan A, Alves-Cabratosa L, Elosua R, Grau M, Marrugat J, Ramos R
Atherosclerosis 2017 Sep;264:29-35. Epub 2017 Jul 13 doi: 10.1016/j.atherosclerosis.2017.07.013. PMID: 28756313
Outcome and toxicities associated to chemotherapy in children with acute lymphoblastic leukemia and Gilbert syndrome. Usefulness of UGT1A1 mutational screening.
Berrueco R, Alonso-Saladrigues A, Martorell-Sampol L, Català-Temprano A, Ruiz-Llobet A, Toll T, Torrebadell M, Naudó M, Camós M, Rives S
Pediatr Blood Cancer 2015 Jul;62(7):1195-201. Epub 2015 Apr 8 doi: 10.1002/pbc.25457. PMID: 25855413
Multilineage dysplasia is associated with a poorer prognosis in patients with de novo acute myeloid leukemia with intermediate-risk cytogenetics and wild-type NPM1.
Rozman M, Navarro JT, Arenillas L, Aventín A, Giménez T, Alonso E, Perea G, Camós M, Navarrete M, Tuset E, Florensa L, Millá F, Nomdedéu J, de la Banda E, Díaz-Beyá M, Pratcorona M, Garrido A, Navarro B, Brunet S, Sierra J, Esteve J; Grup Català de Citologia Hematològica and Spanish CETLAM Group (Grupo Cooperativo Para el Estudio y Tratamiento de las Leucemias Agudas Mieloblásticas)
Ann Hematol 2014 Oct;93(10):1695-703. Epub 2014 May 14 doi: 10.1007/s00277-014-2100-6. PMID: 24824767
CAMOS, a nonprogressive, autosomal recessive, congenital cerebellar ataxia, is caused by a mutant zinc-finger protein, ZNF592.
Nicolas E, Poitelon Y, Chouery E, Salem N, Levy N, Mégarbané A, Delague V
Eur J Hum Genet 2010 Oct;18(10):1107-13. Epub 2010 Jun 9 doi: 10.1038/ejhg.2010.82. PMID: 20531441Free PMC Article

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