Coffin-Lowry Syndrome [Coffinův-Lowryho syndrom]

topical
Terms

Coffin Syndrome
Mental Retardation with Osteocartilaginous Abnormalities

Persistent link   https://www.medvik.cz/link/D038921
Definition

A rare, X-linked INTELLECTUAL DISABILITY syndrome that results from mutations in the RIBOSOMAL PROTEIN S6 KINASE gene. Typical manifestations of the disease include an intelligence quotient of less than 50, facial anomalies, and other malformations.

DUI
D038921 MeSH Browser
CUI
M0417790
Previous indexing
Mental Retardation/genetics (1975-2002)
History note
2003
Public note
2003

Allowable subheadings

BL
blood
CF
cerebrospinal fluid
CI
chemically induced
CL
classification
CO
complications
DI
diagnosis
DG
diagnostic imaging
DH
diet therapy
DT
drug therapy
EC
economics
EM
embryology
EN
enzymology
EP
epidemiology
EH
ethnology
ET
etiology
GE
genetics
HI
history
IM
immunology
ME
metabolism
MI
microbiology
MO
mortality
NU
nursing
PS
parasitology
PA
pathology
PP
physiopathology
PC
prevention & control
PX
psychology
RT
radiotherapy
RH
rehabilitation
SU
surgery
TH
therapy
UR
urine
VE
veterinary
VI
virology

C Diseases
C10 Nervous System Diseases 1 897
C10.597 Neurologic Manifestations 1 055
C10.597.606 Neurobehavioral Manifestations 208
C10.597.606.360 Intellectual Disability 1 054
C10.597.606.360.455 X-Linked Intellectual Disability 18
C10.597.606.360.455.124 Adrenoleukodystrophy 43
C10.597.606.360.455.249 Coffin-Lowry Syndrome
C10.597.606.360.455.500 Fragile X Syndrome 63
C10.597.606.360.455.562 Glycogen Storage Disease Type IIb 11
C10.597.606.360.455.625 Lesch-Nyhan Syndrome 20
C10.597.606.360.455.687 Menkes Kinky Hair Syndrome 12
C10.597.606.360.455.750 Mucopolysaccharidosis II 25
C10.597.606.360.455.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C10.597.606.360.455.937 Rett Syndrome 53
C16 Congenital, Hereditary, and Neonatal Diseases and Abnormalities 439
C16.320 Genetic Diseases, Inborn 1 219
C16.320.322 Genetic Diseases, X-Linked 61
C16.320.322.500 X-Linked Intellectual Disability 18
C16.320.322.500.124 Adrenoleukodystrophy 43
C16.320.322.500.186 Classical Lissencephalies and Subcortical Band Heterotopias 2
C16.320.322.500.249 Coffin-Lowry Syndrome
C16.320.322.500.500 Fragile X Syndrome 63
C16.320.322.500.625 Lesch-Nyhan Syndrome 20
C16.320.322.500.687 Menkes Kinky Hair Syndrome 12
C16.320.322.500.750 Mucopolysaccharidosis II 25
C16.320.322.500.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.322.500.937 Rett Syndrome 53
C16.320.400 Heredodegenerative Disorders, Nervous System 47
C16.320.400.525 X-Linked Intellectual Disability 18
C16.320.400.525.124 Adrenoleukodystrophy 43
C16.320.400.525.249 Coffin-Lowry Syndrome
C16.320.400.525.500 Fragile X Syndrome 63
C16.320.400.525.625 Lesch-Nyhan Syndrome 20
C16.320.400.525.687 Menkes Kinky Hair Syndrome 12
C16.320.400.525.750 Mucopolysaccharidosis II 25
C16.320.400.525.875 Pyruvate Dehydrogenase Complex Deficiency Disease 9
C16.320.400.525.937 Rett Syndrome 53

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