ORPHA:35107
Desmosterolosis
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
Desmosterolosis is a very rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, and intellectual disability, with elevated levels of desmosterol.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Desmosterolosis | |
| fr | Desmostérolose | |
| de | Desmosterolose | |
| es | Desmosterolosis | |
| it | Desmosterolosi | |
| nl | Desmosterolosis | |
| pt | Desmosterolose | |
| pl | Desmosteroloza | |
| cs | Desmosterolóza | |
| uk | Дезмостеророз | |
| zh | 链甾醇病 | |
| tr | Desmosteroloz |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602398 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | 5C52.10 | NTBT | index | validated |
| MONDO | 0011217 | E | validated | |
| MeSH | C566555 | E | validated | |
| UMLS | C1865596 | E | validated | |
| GARD | 10283 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (4):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:93443Neonatal osteosclerotic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:79195Sterol biosynthesis disorder
rare developmental anomalies during embryogenesis; rare inborn errors of metabolism; rare genetic diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| DHCR24 | Disease-causing germline mutation(s) in | Assessed | HGNC:2859 | ENSG00000116133 | 606418 | 1p32.3 | 24-dehydrocholesterol reductase | 21671375[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 10 cases | Worldwide | Case(s) | Validated | 29175559[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_29175559[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
57 annotations · validated 2017-06-22| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001331 | Absent septum pellucidum | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000193 | Bifid uvula | |
| HP:0000175 | Cleft palate | |
| HP:0001508 | Failure to thrive | |
| HP:0011968 | Feeding difficulties | |
| HP:0001510 | Growth delay | |
| HP:0001276 | Hypertonia | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000252 | Microcephaly | |
| HP:0000347 | Micrognathia | |
| HP:0003552 | Muscle stiffness | |
| HP:0000278 | Retrognathia | |
| HP:0002063 | Rigidity | |
| HP:0003510 | Severe short stature | |
| HP:0001257 | Spasticity | |
| HP:0000176 | Submucous cleft hard palate | |
| Frequent (79-30%) | ||
| HP:0000363 | Abnormality of earlobe | |
| HP:0000366 | Abnormality of the nose | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0009748 | Large earlobe | |
| HP:0000369 | Low-set ears | |
| HP:0000160 | Narrow mouth | |
| HP:0000639 | Nystagmus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0002133 | Status epilepticus | |
| HP:0000486 | Strabismus | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0010772 | Anomalous pulmonary venous return | |
| HP:0008065 | Aplasia/Hypoplasia of the skin | |
| HP:0004334 | Dermal atrophy | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0000286 | Epicanthus | |
| HP:0002007 | Frontal bossing | |
| HP:0000238 | Hydrocephalus | |
| HP:0011001 | Increased bone mineral density | |
| HP:0002566 | Intestinal malrotation | |
| HP:0001339 | Lissencephaly | |
| HP:0000256 | Macrocephaly | |
| HP:0001840 | Metatarsus adductus | |
| HP:0002983 | Micromelia | |
| HP:0011002 | Osteopetrosis | |
| HP:0001302 | Pachygyria | |
| HP:0001302 | Pachygyria | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0002126 | Polymicrogyria | |
| HP:0011220 | Prominent forehead | |
| HP:0000104 | Renal agenesis | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001744 | Splenomegaly | |
| HP:0001883 | Talipes | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 21671375[PMID]_24961299[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/35107
- This record as JSON: /data/d/35107.json