content:warburg_micro_syndrome

Differences

This shows you the differences between two versions of the page.

Link to this comparison view

Both sides previous revision Previous revision
Next revision		 Previous revision
Next revisionBoth sides next revision
content:warburg_micro_syndrome [2020/02/22 11:56] – bijuhameedcontent:warburg_micro_syndrome [2020/02/22 12:06] – bijuhameed
Line 3: Line 3:
    
   * rare autosomal recessive genetic disorder.   * rare autosomal recessive genetic disorder.
-  * characterized by problems with the eyes and with the growth and development of the brain, resulting in neurodevelopmental delay.  +  * characterized by severe intellectual disability, microcephaly, hypothalamic hypogonadism 
-  * severe intellectual disability, microcephaly, hypothalamic hypogonadism +  * associated with mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20 
-  * mutations in at least four different genes, RAB18, RAB3GAP1, RAB3GAP2, or TCB1D20, causes this disorder +  * in 1993 Warburg used the term MICRO syndrome[(:cite:8249951>{{pubmed>8249951}})] to describe an autosomal recessive syndrome comprising microcephaly, microcornea, congenital Cataract, mental retardation, optic atrophy, and hypogenitalism 
-  * in 1993 Warburg used the term MICRO syndrome[(:cite:8249951>{{pubmed>8249951}})] to describe an autosomal recessive syndrome comprising Microcephaly, Microcornea, congenital Cataract, mental Retardation, Optic atrophy, and hypogenitalism +  * part of a spectrum of disease that includes [[Martsolf syndrome]] at the mild end. [[Martsolf syndrome]] is linked to mutations in [[https://ghr.nlm.nih.gov/gene/RAB3GAP2|RAB3GAP2]]. 
-  * the disorder is part of a spectrum of disease that includes Martsolf syndrome at the mild end, and linked to mutations in RAB3GAP2.+ 
 +===== Differential diagnosis =====
  
-Differential diagnosis 
   * [[content:martsolf_syndrome|Martsolf syndrome]]   * [[content:martsolf_syndrome|Martsolf syndrome]]
-  * [[Cerebro-oculo-facial-skeletal (COFS) syndrome]] +  * [[https://omim.org/entry/214150|Cerebro-oculo-facial-skeletal (COFS) syndrome]] 
-  * [[congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome]] +  * [[https://omim.org/entry/604168|congenital cataracts-facial dysmorphism-neuropathy (CCFDN) syndrome]] 
-  * [[CAMFAK Syndrome]]+  * [[https://omim.org/entry/212540|CAMFAK Syndrome]] (Cataract-microcephaly-failure to thrive-kyphoscoliosis syndrome).
  
 ===== Further reading ===== ===== Further reading =====
Line 19: Line 19:
  
 ==== References ==== ==== References ====
-~#REFNOTES~~+~~REFNOTES~~
  • content/warburg_micro_syndrome.txt
  • Last modified: 2022/04/30 11:55
  • by administrator@icnapedia.org