Dermatology · Dermatology / Genodermatoses
Chanarin–Dorfman syndrome
also: Neutral lipid storage disease with ichthyosis
Ichthyosis with intracellular neutral lipid accumulation.
- Specialty
- Dermatology
- Subspecialty
- Dermatology / Genodermatoses
- Sex & age distribution
- Male: affected; Female: affected, equal; Children: yes, from birth
- Gene(s) involved
- ABHD5
- Alternative names & eponyms
- Neutral lipid storage disease with ichthyosis
Etiology & mechanism
Impaired triglyceride lipolysis from ABHD5 deficiency.
Gene(s) involved (1)
Symptoms & signs (7)
In plain terms, someone with Chanarin–Dorfman syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
2 shared
Alström syndrome
fatty liver, hearing loss
2 shared
Cardio-facio-cutaneous syndrome
developmental delay, ichthyosis
2 shared
Cockayne syndrome
developmental delay, hearing loss
2 shared
Zellweger syndrome
cataracts, hepatomegaly
1 shared
Aicardi syndrome
developmental delay
1 shared
Alport syndrome with diffuse leiomyomatosis
hearing loss
1 shared
Bannayan–Riley–Ruvalcaba syndrome
developmental delay
1 shared
Brain–lung–thyroid syndrome
developmental delay
1 shared
Branchio-oto-renal syndrome
hearing loss
1 shared
Budd–Chiari syndrome
hepatomegaly
Shares genes with
None.
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