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Triglyceride storage disease with ichthyosis(CDS)

MedGen UID:
Concept ID:
Disease or Syndrome
Synonyms: CDS; Chanarin-Dorfman disease; Chanarin-Dorfman Syndrome; Disorder of cornification 12 (neutral lipid storage type); Ichthyosiform erythroderma with leukocyte vacuolation; Neutral lipid storage disease with ichthyotic; Triglyceride storage disease with impaired long-chain fatty acid oxidation
SNOMED CT: Triglyceride storage disease with ichthyosis (19604005); Chanarin-Dorfman disease (19604005); Chanarin-Miranda syndrome (19604005); Ichthyosiform erythroderma with leukocyte vacuolation (19604005); Ichthyotic neutral lipid storage disease (19604005); Neutral lipid storage disease (19604005); Lipid storage myopathy AND congenital ichthyosis (19604005)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
Concept ID:
Intellectual Product
Sources: HPO, OMIM
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).
Gene (location): ABHD5 (3p21.33)
Monarch Initiative: MONDO:0010155
OMIM®: 275630
Orphanet: ORPHA98907


Chanarin-Dorfman syndrome is a condition in which fats (lipids) are stored abnormally in the body. Affected individuals cannot break down certain fats called triglycerides, and these fats accumulate in organs and tissues, including skin, liver, muscles, intestine, eyes, and ears. People with this condition also have dry, scaly skin (ichthyosis), which is usually present at birth. Additional features of this condition include an enlarged liver (hepatomegaly), clouding of the lens of the eyes (cataracts), difficulty with coordinating movements (ataxia), hearing loss, short stature, muscle weakness (myopathy), involuntary movement of the eyes (nystagmus), and mild intellectual disability.\n\nThe signs and symptoms vary greatly among individuals with Chanarin-Dorfman syndrome. Some people may have ichthyosis only, while others may have problems affecting many areas of the body. [from MedlinePlus Genetics]

Clinical features

From HPO
MedGen UID:
Concept ID:
Abnormally increased size of the liver.
Hepatic steatosis
MedGen UID:
Concept ID:
Disease or Syndrome
Steatosis is a term used to denote lipid accumulation within hepatocytes.
Sensorineural hearing impairment
MedGen UID:
Concept ID:
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
MedGen UID:
Concept ID:
Congenital Abnormality
Underdevelopment of the external ear.
Cerebellar ataxia
MedGen UID:
Concept ID:
Disease or Syndrome
Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
Intellectual disability
MedGen UID:
Concept ID:
Mental or Behavioral Dysfunction
A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group.
Abnormality of blood and blood-forming tissues
MedGen UID:
Concept ID:
An abnormality of the hematopoietic system.
MedGen UID:
Concept ID:
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Muscle weakness
MedGen UID:
Concept ID:
A reduction in the strength of one or more muscles.
MedGen UID:
Concept ID:
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Everted lower lip vermilion
MedGen UID:
Concept ID:
An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.
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Concept ID:
A noncongenital process of hair loss, which may progress to partial or complete baldness.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
Concept ID:
Disease or Syndrome
Congenital ichthyosiform erythroderma (CIE) is a variant of autosomal recessive congenital ichthyosis (ARCI; see this term), a rare epidermal disease, characterized by fine, whitish scales on a background of erythematous skin over the whole body.
MedGen UID:
Concept ID:
Disease or Syndrome
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
MedGen UID:
Concept ID:
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Subcapsular cataract
MedGen UID:
Concept ID:
A cataract that affects the region of the lens directly beneath the capsule of the lens.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVTriglyceride storage disease with ichthyosis
Follow this link to review classifications for Triglyceride storage disease with ichthyosis in Orphanet.

Recent clinical studies


Uitto J, Youssefian L, Saeidian AH, Vahidnezhad H
Acta Derm Venereol 2020 Mar 25;100(7):adv00095. doi: 10.2340/00015555-3431. PMID: 32147742
Mogahed EA, Sayed AA, Khalifa SE, El-Hennawy A, El-Raziky MS
Eur J Pediatr 2020 May;179(5):719-726. Epub 2020 Jan 2 doi: 10.1007/s00431-019-03551-0. PMID: 31897838
Louhichi N, Bahloul E, Marrakchi S, Othman HB, Triki C, Aloulou K, Trabelsi L, Mahfouth N, Ayadi-Mnif Z, Keskes L, Fakhfakh F, Turki H
Orphanet J Rare Dis 2019 May 22;14(1):112. doi: 10.1186/s13023-019-1095-4. PMID: 31118107Free PMC Article
Tan J, Yang H, Fan J, Fan Y, Xiao F
Clin Neurol Neurosurg 2018 May;168:102-107. Epub 2018 Mar 5 doi: 10.1016/j.clineuro.2018.03.001. PMID: 29539587
Garibaldi M, Tasca G, Diaz-Manera J, Ottaviani P, Laschena F, Pantoli D, Gerevini S, Fiorillo C, Maggi L, Tasca E, D'Amico A, Musumeci O, Toscano A, Bruno C, Massa R, Angelini C, Bertini E, Antonini G, Pennisi EM
J Neurol 2017 Jul;264(7):1334-1342. Epub 2017 May 13 doi: 10.1007/s00415-017-8498-8. PMID: 28503705Free PMC Article


Cakmak E, Bagci G
Liver Int 2021 May;41(5):905-914. Epub 2021 Mar 18 doi: 10.1111/liv.14794. PMID: 33455044
Akyay A, Demir Şahin F, Şen A
Turk J Haematol 2020 Nov 19;37(4):299-300. Epub 2020 Jun 10 doi: 10.4274/tjh.galenos.2020.2020.0242. PMID: 32517421Free PMC Article
Kalyon S, Gökden Y, Demirel N, Erden B, Türkyılmaz A
Turk J Gastroenterol 2019 Jan;30(1):105-108. doi: 10.5152/tjg.2018.18014. PMID: 30457558Free PMC Article
Mogahed EA, El-Hennawy A, El-Sayed R, El-Karaksy H
Arab J Gastroenterol 2015 Sep-Dec;16(3-4):142-4. Epub 2015 Oct 28 doi: 10.1016/j.ajg.2015.06.006. PMID: 26520282
Nur BG, Gencpinar P, Yuzbasıoglu A, Emre SD, Mihci E
Eur J Med Genet 2015 Apr;58(4):238-42. Epub 2015 Feb 14 doi: 10.1016/j.ejmg.2015.01.011. PMID: 25682902


Niculescu L, Ruini C, Srour J, Salzer S, Schönbuchner I, von Braunmühl T, Ruzicka T, Hohenleutner U, Giehl KA, Fischer J, Wollenberg A
Acta Derm Venereol 2019 Mar 1;99(3):345-346. doi: 10.2340/00015555-3087. PMID: 30460372
Kim SH, Jung HH, Lee CK
Yonsei Med J 2018 Sep;59(7):807-815. doi: 10.3349/ymj.2018.59.7.807. PMID: 30091313Free PMC Article
Waheed N, Cheema HA, Suleman H, Mushtaq I, Fayyaz Z
J Coll Physicians Surg Pak 2016 Sep;26(9):787-9. doi: 2437. PMID: 27671187
Srinivasaraghavan R, Krishnamurthy S, Chandar R, Cassandrini D, Mahadevan S, Bruno C, Santorelli FM
Pediatr Dermatol 2014 Sep-Oct;31(5):612-4. Epub 2013 Jun 12 doi: 10.1111/pde.12170. PMID: 23756328
Israeli S, Pessach Y, Sarig O, Goldberg I, Sprecher E
Clin Exp Dermatol 2012 Jan;37(1):31-3. Epub 2011 Oct 10 doi: 10.1111/j.1365-2230.2011.04164.x. PMID: 21981352


Durdu M, Missaglia S, Moro L, Tavian D
BMC Med Genet 2018 May 29;19(1):88. doi: 10.1186/s12881-018-0610-0. PMID: 29843625Free PMC Article
Pennisi EM, Arca M, Bertini E, Bruno C, Cassandrini D, D'amico A, Garibaldi M, Gragnani F, Maggi L, Massa R, Missaglia S, Morandi L, Musumeci O, Pegoraro E, Rastelli E, Santorelli FM, Tasca E, Tavian D, Toscano A, Angelini C; Italian NLSD Group.
Orphanet J Rare Dis 2017 May 12;12(1):90. doi: 10.1186/s13023-017-0646-9. PMID: 28499397Free PMC Article
McMahon D, Dinh A, Kurz D, Shah D, Han GS, Carman GM, Brasaemle DL
J Lipid Res 2014 Aug;55(8):1750-61. Epub 2014 May 30 doi: 10.1194/jlr.M051151. PMID: 24879803Free PMC Article
Perrin L, Féasson L, Furby A, Laforêt P, Petit FM, Gautheron V, Chabrier S
Neuromuscul Disord 2013 Dec;23(12):986-91. Epub 2013 Aug 30 doi: 10.1016/j.nmd.2013.08.008. PMID: 24074500
Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D
Orphanet J Rare Dis 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33. PMID: 21122093Free PMC Article

Clinical prediction guides

Ohno Y, Nara A, Nakamichi S, Kihara A
J Dermatol Sci 2018 Dec;92(3):245-253. Epub 2018 Nov 20 doi: 10.1016/j.jdermsci.2018.11.005. PMID: 30527376
Redaelli C, Coleman RA, Moro L, Dacou-Voutetakis C, Elsayed SM, Prati D, Colli A, Mela D, Colombo R, Tavian D
Orphanet J Rare Dis 2010 Dec 1;5:33. doi: 10.1186/1750-1172-5-33. PMID: 21122093Free PMC Article
Selimoglu MA, Esrefoglu M, Gul M, Gungor S, Yildirim C, Seyhan M
Pediatr Dermatol 2009 Jan-Feb;26(1):40-3. doi: 10.1111/j.1525-1470.2008.00818.x. PMID: 19250403
Ghosh AK, Ramakrishnan G, Chandramohan C, Rajasekharan R
J Biol Chem 2008 Sep 5;283(36):24525-33. Epub 2008 Jul 7 doi: 10.1074/jbc.M801783200. PMID: 18606822Free PMC Article
Pujol RM, Gilaberte M, Toll A, Florensa L, Lloreta J, González-Enseñat MA, Fischer J, Azon A
Br J Dermatol 2005 Oct;153(4):838-41. doi: 10.1111/j.1365-2133.2005.06828.x. PMID: 16181472

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