Neutral lipid storage disease with ichthyosis
Synonyms: CDS · Chanarin-Dorfman syndrome · DCS · Dorfman-Chanarin syndrome · NLSDI
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of autosomal recessive neutral lipid storage disease characterized by the accumulation of lipid vacuoles in granulocytes (so-called Jordan's anomaly) and a variety of other cell types. Clinically, the skin symptoms with ichthyosiform erythroderma and scaling are initially in the foreground. Later, steatosis hepatis, hepatomegaly and muscle weakness develop. Other manifestations include growth delay, cataracts, sensorineural hearing loss, intellectual disability and bowel disease.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Neutral lipid storage disease with ichthyosis | CDS · Chanarin-Dorfman syndrome · DCS · Dorfman-Chanarin syndrome · NLSDI |
| fr | Lipidose avec surcharge en triglycérides et ichtyose | NLSDI · SCD · SDC · Syndrome de Chanarin-Dorfman · Syndrome de Dorfman-Chanarin |
| de | Neutralfett-Speicherkrankheit mit Ichthyose | CDS · Chanarin-Dorfman-Syndrom · Dorfman-Chanarin-Krankheit · Dorfman-Chanarin-Syndrom · NLSDI |
| es | Enfermedad por depósito de lípidos neutros con ictiosis | NLSDI · Síndrome de Chanarin-Dorfman · Síndrome de Dorfman-Chanarin |
| it | Malattia da deposito di lipidi neutri con ittiosi | CDS · DCS · Malattia di Dorfman-Chanarin · NLSDI · Sindrome di Dorfman-Chanarin |
| nl | Neutrale vetstapelingsziekte met ichthyosis | CDS · DCS · NLSDI · Syndroom van Chanarin-Dorfman · Syndroom van Dorfman-Chanari |
| pt | Doença de armazenamento de lípidos neutros com ictiose | CDS · DCS · NLSDI · Síndrome Chanarin-Dorfman · Síndrome Dorfman-Chanarin |
| pl | Neutralna choroba spichrzania lipidów z rybią łuską | Choroba spichrzania neutralnych tłuszczy z rybią łuską · NLSDI |
| cs | Dorfmanova-Chanarinova choroba | NLSDI · Střádavé onemocnění neutrálních lipidů s ichtyózou · Dorfman-Chanarinova choroba |
| uk | Хвороба накопичення нейтральних ліпідів з іхтіозом | CDS · Синдром Шанаріна-Дорфмана · DCS · Синдром Дорфмана-Чанаріна · NLSDI |
| zh | 中性脂质贮积病伴鱼鳞病 | Dorfman-Chanarin 病 |
| tr | İktiyoz ile seyreden nötr lipid depo hastalığı | NLSDI · Dorfman-Chanarin hastalığı |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275630 | E | validated | |
| ICD-10 | E75.5 | NTBT | attributed | validated |
| ICD-11 | 5C52.2 | NTBT | index | validated |
| MONDO | 0010155 | E | validated | |
| MeSH | C536560 | E | validated | |
| UMLS | C0268238 | E | validated | |
| GARD | 3979 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:281244Autosomal ichthyosis syndrome with other associated signs
rare genetic diseases; rare skin diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:165Neutral lipid storage disease
rare inborn errors of metabolism; rare genetic diseases; rare neurological diseases - ORPHA:611314Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABHD5 | Disease-causing germline mutation(s) in | Assessed | HGNC:21396 | ENSG00000011198 | 604780 | 3p21.33 | abhydrolase domain containing 5, lysophosphatidic acid acyltransferase | 18606822[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
32 annotations · validated 2019-01-21| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007479 | Congenital nonbullous ichthyosiform erythroderma | Diagnostic criterion |
| HP:0009073 | Progressive proximal muscle weakness | |
| Frequent (79-30%) | ||
| HP:0040081 | Abnormal circulating creatine kinase concentration | |
| HP:0001911 | Abnormality of granulocytes | Diagnostic criterion |
| HP:0001596 | Alopecia | |
| HP:0001284 | Areflexia | |
| HP:0001251 | Ataxia | |
| HP:0001638 | Cardiomyopathy | |
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0012472 | Eclabion | |
| HP:0000656 | Ectropion | |
| HP:0002910 | Elevated circulating hepatic transaminase concentration | |
| HP:0001288 | Gait disturbance | |
| HP:0001263 | Global developmental delay | |
| HP:0001397 | Hepatic steatosis | |
| HP:0002240 | Hepatomegaly | Diagnostic criterion |
| HP:0002155 | Hypertriglyceridemia | |
| HP:0002922 | Increased CSF protein concentration | |
| HP:0012240 | Increased intramyocellular lipid droplets | |
| HP:0003198 | Myopathy | Diagnostic criterion |
| HP:0000639 | Nystagmus | |
| HP:0000508 | Ptosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0004322 | Short stature | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| HP:0000385 | Small earlobe | |
| HP:0000486 | Strabismus | |
| HP:0000523 | Subcapsular cataract | |
| Occasional (29-5%) | ||
| HP:0007009 | Central nervous system degeneration | |
| HP:0001413 | Micronodular cirrhosis | |
| Excluded (0%) | ||
| HP:0001946 | Ketosis | |
| HP:0001513 | Obesity | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 7362208[PMID]_24836204[PMID]_7362208[PMID]_21045422[PMID]_11251597[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/98907
- This record as JSON: /data/d/98907.json