Dorfman-Chanarin disease

General Information (adopted from Orphanet):

Synonyms, Signs: ICHTHYOSIFORM ERYTHRODERMA WITH LEUKOCYTE VACUOLATION
CHANARIN-DORFMAN DISEASE
ICHTHYOTIC NEUTRAL LIPID STORAGE DISEASE
DORFMAN-CHANARIN SYNDROME
TRIGLYCERIDE STORAGE DISEASE WITH IMPAIRED LONG-CHAIN FATTY ACID OXIDATION
DCS
NLSDI
CDS
neutral lipid storage disease with ichthyosis
Number of Symptoms 21
OrphanetNr: 98907
OMIM Id: 275630
ICD-10: E75.5
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal ichthyosis syndrome with other associated signs
 -Rare genetic disease
 -Rare skin disease
Neutral lipid storage disease
 -Rare genetic disease
 -Rare neurologic disease
Syndromic ichthyosis associated with ocular features
 -Rare eye disease
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000232) Everted lower lip vermilion 90 / 7739
2
 (HPO:0000656) Ectropion 25 / 7739
3
 (HPO:0012472) Eclabion 7 / 7739
4
 (HPO:0000639) Nystagmus 555 / 7739
5
 (HPO:0000523) Subcapsular cataract 12 / 7739
6
 (HPO:0000486) Strabismus 576 / 7739
7
 (HPO:0008551) Microtia 98 / 7739
8
 (HPO:0000407) Sensorineural hearing impairment 524 / 7739
9
 (HPO:0001251) Ataxia 413 / 7739
10
 (HPO:0001249) Intellectual disability 1089 / 7739
11
 (HPO:0001397) Hepatic steatosis 75 / 7739
12
 (HPO:0002240) Hepatomegaly 467 / 7739
13
 (HPO:0007479) Congenital nonbullous ichthyosiform erythroderma 13 / 7739
14
 (HPO:0001596) Alopecia 162 / 7739
15
 (HPO:0001871) Abnormality of blood and blood-forming tissues 37 / 7739
16
 (HPO:0003198) Myopathy 151 / 7739
17
 (HPO:0001324) Muscle weakness 859 / 7739
18
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
19
 (OMIM) Lipid droplets in basal keratinocytes 1 / 7739
20
 (OMIM) Lipid droplets in granulocytes 1 / 7739
21
 (MedDRA:10073736) Diffuse alopecia 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM In a 5-year-old girl, Angelini et al. (1980) identified a syndrome, presumably inherited as an autosomal recessive, characterized by congenital ichthyosis, hepatosplenomegaly, vacuolated granulocytes (Jordans anomaly), and myopathy. Pathologic, ultrastructural and biochemical studies showed nonlysosomal, multisystem triglyceride storage. ...
Molecular genetics OMIM In 9 families from the Mediterranean basin with Chanarin-Dorfman syndrome, Lefevre et al. (2001) identified 8 different haplotypes and homozygous mutations in the ABHD5 gene (604780.0001-604780.0008).