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Triglyceride storage disease with ichthyosis(CDS)

MedGen UID:
82780
Concept ID:
C0268238
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
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, Orphanet
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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). [HPO:curators]
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
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)
 
Gene (location): ABHD5 (3p21.33)
OMIM®: 275630
Orphanet: ORPHA98907

Definition

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.The 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 GHR]

Clinical features

Hepatomegaly
MedGen UID:
42428
Concept ID:
C0019209
Finding
Abnormal enlargement of the liver.
Hepatic steatosis
MedGen UID:
398225
Concept ID:
C2711227
Disease or Syndrome
Inflammation of the liver related to lipid accumulation in fatty liver.
Sensorineural hearing loss
MedGen UID:
9164
Concept ID:
C0018784
Disease or Syndrome
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.
Microtia
MedGen UID:
57535
Concept ID:
C0152423
Congenital Abnormality
Underdevelopment of the external ear.
Cerebellar ataxia
MedGen UID:
849
Concept ID:
C0007758
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- oder 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:
334384
Concept ID:
C1843367
Finding
Abnormality of blood and blood-forming tissues
MedGen UID:
163092
Concept ID:
C0850715
Finding
An abnormality of the hematopoietic system.
Muscular Diseases
MedGen UID:
10135
Concept ID:
C0026848
Disease or Syndrome
A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
Muscle weakness
MedGen UID:
57735
Concept ID:
C0151786
Finding
A reduction in the strength of one or more muscles.
Ectropion
MedGen UID:
4448
Concept ID:
C0013592
Disease or Syndrome
An outward turning (eversion) or rotation of the eyelid margin.
Everted lower lip vermilion
MedGen UID:
344003
Concept ID:
C1853246
Finding
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.
Alopecia
MedGen UID:
7982
Concept ID:
C0002170
Finding
Absence of hair from areas where it is normally present.
Congenital nonbullous ichthyosiform erythroderma
MedGen UID:
38180
Concept ID:
C0079154
Disease or Syndrome
A chronic, congenital ichthyosis inherited as an autosomal recessive trait. Infants are usually born encased in a collodion membrane which sheds within a few weeks. Scaling is generalized and marked with grayish-brown quadrilateral scales, adherent at their centers and free at the edges. In some cases, scales are so thick that they resemble armored plate.
Nystagmus
MedGen UID:
45166
Concept ID:
C0028738
Disease or Syndrome
Involuntary movements of the eye that are divided into two types, jerk and pendular. Jerk nystagmus has a slow phase in one direction followed by a corrective fast phase in the opposite direction, and is usually caused by central or peripheral vestibular dysfunction. Pendular nystagmus features oscillations that are of equal velocity in both directions and this condition is often associated with visual loss early in life. (Adams et al., Principles of Neurology, 6th ed, p272)
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
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:
65903
Concept ID:
C0235259
Finding
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

Etiology

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
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
Lamari F, Mochel F, Sedel F, Saudubray JM
J Inherit Metab Dis 2013 May;36(3):411-25. Epub 2012 Jul 20 doi: 10.1007/s10545-012-9509-7. PMID: 22814679
Liang WC, Nishino I
Acta Myol 2010 Oct;29(2):351-6. PMID: 21314018Free PMC Article
Mitra S, Samanta M, Sarkar M, Chatterjee S
Indian J Pathol Microbiol 2010 Oct-Dec;53(4):799-801. doi: 10.4103/0377-4929.72098. PMID: 21045422

Diagnosis

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
Nakhaei S, Heidary H, Rahimian A, Vafadar M, Rohani F, Bahoosh GR, Amirkashani D
Iran Biomed J 2018 Nov;22(6):415-9. Epub 2018 Feb 24 PMID: 29475365Free 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
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

Therapy

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
Laforêt P, Ørngreen M, Preisler N, Andersen G, Vissing J
Arch Neurol 2012 Apr;69(4):530-3. doi: 10.1001/archneurol.2011.631. PMID: 22491199
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

Prognosis

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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