Rasopathies (overview)
Synonym(s)
Neuro-Cardio-Fazio-Cutaneous Syndromes; Noonan-related syndromes; RASOpathies; RASopathy
DefinitionThis section has been translated automatically.
The term "RASopathies ", also"Neuro-Cardio-Facio-Cutaneous Syndromes", is used to describe a clinically and genetically heterogeneous group of diseases that are caused by gene mutations (germline mutations) in genes that code for proteins of the RAS/MAPK(mitogen-activated protein kinase) signalling pathway.
RASopathies are characterizedby symptoms in multiple organ systems. These include:
- the skin organ
- the cardiovascular system
- the skeletal system
- Musculature
- gastrointestinal tract
- central nervous system and
- eyes.
ClassificationThis section has been translated automatically.
The following diseases are classified as RASopathies:
- Neurofibromatosis type I (NF1 gene).
- Legius syndrome (SPRED1 gene), a syndrome similar to neurofibromatosis type I with a different mutation (see above)
- Lelis syndrome(palmo-plantar hyperkeratoses, acanthosis nigricans, nail dystrophies, mental retardation)
- Naxos syndrome (mutation of the JUP gene, which codes for phacoglobin, an integral component of desmosomes) palmo-plantar hyperkeratoses, frizz hair, right cardiac cardiomyopathy)
- Carvajal syndrome (mutation of the DSP gene, which also encodes phacoglobin) palmo-plantar hyperkeratosis, frizzy hair, left cardiac cardiomyopathy occurring in early childhood)
- Rothmund-Thomson syndrome
- Costello syndrome (among others, a heterozygous missense mutation c.34G>A (p.Gly12Ser) in exon 2 has been detected; mutations in sections of the HRAS gene are rarer )
- Cardiofasciocutaneous syndrome(Noonan-related syndromes: short stature, mental retardation, facial dysmorphia, cardiac anomalies, hyperextensible joints, cutis laxa, hyperkeratoses, hyperhidrosis, curly hair that is usually easily epilated(loose anagen hair syndrome), acanthosis nigricans, nail dystrophies)
- CFC syndrome (cardio-facio-cutaneous syndrome)
Note(s)This section has been translated automatically.
For clarification, a step-by-step diagnosis using next generation sequencing (NGS) should be performed.
LiteratureThis section has been translated automatically.
- Costello JM (1971) A new sydrnome. NZ Med J 74:397
- Wirtz M et al (2015) Costello syndrome, a rare RASopathy with cutaneous symptoms, dermatologist 66:225-228