Desmosterolosis

General Information (adopted from Orphanet):

Synonyms, Signs:
Number of Symptoms 68
OrphanetNr: 35107
OMIM Id: 602398
ICD-10: Q87.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Neonatal osteosclerotic dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Sterol biosynthesis disorder
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000639) Nystagmus Frequent [Orphanet] 555 / 7739
2
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
3
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
4
 (HPO:0008905) Rhizomelia 1/2 [HPO] Occasional [Orphanet] 9450875 IBIS 85 / 7739
5
 (HPO:0004325) Decreased body weight Very frequent [Orphanet] 492 / 7739
6
 (HPO:0001508) Failure to thrive 454 / 7739
7
 (HPO:0002119) Ventriculomegaly Frequent [Orphanet] 253 / 7739
8
 (HPO:0010772) Anomalous pulmonary venous return Occasional [Orphanet] 11 / 7739
9
 (HPO:0005160) Total anomalous pulmonary venous return 1/2 [HPO] 9450875 IBIS 4 / 7739
10
 (HPO:0001643) Patent ductus arteriosus Occasional [Orphanet] 1/2 [HPO] 12457401 IBIS 228 / 7739
11
 (HPO:0003107) Abnormality of cholesterol metabolism 2/2 [HPO] 11519011 IBIS 4 / 7739
12
 (HPO:0001276) Hypertonia Very frequent [Orphanet] 317 / 7739
13
 (HPO:0001257) Spasticity 251 / 7739
14
 (HPO:0001263) Global developmental delay 1/2 [HPO] 12457401 IBIS 853 / 7739
15
 (HPO:0001250) Seizures Frequent [Orphanet] 1245 / 7739
16
 (HPO:0001511) Intrauterine growth retardation Very frequent [Orphanet] 358 / 7739
17
 (HPO:0001762) Talipes equinovarus Occasional [Orphanet] 309 / 7739
18
 (HPO:0001776) Bilateral talipes equinovarus 1/2 [HPO] 12457401 IBIS 8 / 7739
19
 (HPO:0009473) Joint contracture of the hand 1/2 [HPO] 12457401 IBIS 84 / 7739
20
 (HPO:0002804) Arthrogryposis multiplex congenita 93 / 7739
21
 (HPO:0000277) Abnormality of the mandible Very frequent [Orphanet] 394 / 7739
22
 (HPO:0000347) Micrognathia 2/2 [HPO] 426 / 7739
23
 (HPO:0002007) Frontal bossing Occasional [Orphanet] 1/2 [HPO] 9450875 IBIS 366 / 7739
24
 (HPO:0000256) Macrocephaly Occasional [Orphanet] 1/2 [HPO] 9450875 IBIS 298 / 7739
25
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 1/2 [HPO] 12457401 IBIS 832 / 7739
26
 (HPO:0004482) Relative macrocephaly 44 / 7739
27
 (HPO:0000772) Abnormality of the ribs Frequent [Orphanet] 146 / 7739
28
 (HPO:0001338) Partial agenesis of the corpus callosum 22 / 7739
29
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] 2/2 [HPO] 180 / 7739
30
 (HPO:0011001) Increased bone mineral density Occasional [Orphanet] 78 / 7739
31
 (HPO:0005789) Generalized osteosclerosis 1/2 [HPO] 9450875 IBIS 10 / 7739
32
 (HPO:0002566) Intestinal malrotation Occasional [Orphanet] 89 / 7739
33
 (HPO:0001744) Splenomegaly Occasional [Orphanet] 337 / 7739
34
 (HPO:0000061) Ambiguous genitalia, female 1/2 [HPO] 9450875 IBIS 8 / 7739
35
 (HPO:0000033) Ambiguous genitalia, male 1/2 [HPO] 12457401 IBIS 9 / 7739
36
 (HPO:0000062) Ambiguous genitalia Occasional [Orphanet] 74 / 7739
37
 (HPO:0000494) Downslanted palpebral fissures Occasional [Orphanet] 1/2 [HPO] 12457401 IBIS 328 / 7739
38
 (HPO:0000163) Abnormality of the oral cavity Occasional [Orphanet] 37 / 7739
39
 (HPO:0009085) Alveolar ridge overgrowth 1/2 [HPO] 9450875 IBIS 4 / 7739
40
 (HPO:0000169) Gingival fibromatosis 1/2 [HPO] 9450875 IBIS 14 / 7739
41
 (HPO:0000174) Abnormality of the palate Very frequent [Orphanet] 298 / 7739
42
 (HPO:0000175) Cleft palate 2/2 [HPO] 349 / 7739
43
 (HPO:0000160) Narrow mouth Frequent [Orphanet] 188 / 7739
44
 (HPO:0009924) Aplasia/Hypoplasia involving the nose Frequent [Orphanet] 18 / 7739
45
 (HPO:0005281) Hypoplastic nasal bridge 1/2 [HPO] 9450875 IBIS 1 / 7739
46
 (HPO:0000463) Anteverted nares 305 / 7739
47
 (HPO:0005280) Depressed nasal bridge Frequent [Orphanet] 381 / 7739
48
 (HPO:0003196) Short nose 264 / 7739
49
 (HPO:0000286) Epicanthus Occasional [Orphanet] 1/2 [HPO] 12457401 IBIS 371 / 7739
50
 (HPO:0000357) Abnormal location of ears Frequent [Orphanet] 328 / 7739
51
 (HPO:0000378) Cupped ear 1/2 [HPO] 12457401 IBIS 34 / 7739
52
 (HPO:0009748) Large earlobe Frequent [Orphanet] 27 / 7739
53
 (HPO:0000369) Low-set ears 1/2 [HPO] 9450875 IBIS 372 / 7739
54
 (HPO:0000358) Posteriorly rotated ears 1/2 [HPO] 9450875 IBIS 163 / 7739
55
 (HPO:0008065) Aplasia/Hypoplasia of the skin Occasional [Orphanet] 81 / 7739
56
 (HPO:0008678) Renal hypoplasia/aplasia Occasional [Orphanet] 127 / 7739
57
 (HPO:0002536) Abnormal cortical gyration Occasional [Orphanet] 72 / 7739
58
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
59
 (HPO:0011420) Death Occasional [Orphanet] 184 / 7739
60
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
61
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
62
 (HPO:0003812) Phenotypic variability 129 / 7739
63
 (OMIM) Decreased white matter 1 / 7739
64
 (OMIM) Delayed psychomotor development, severe 14 / 7739
65
 (OMIM) Effaced gyral pattern 1 / 7739
66
 (OMIM) Elevated plasma desmosterol 1 / 7739
67
 (OMIM) Gingival nodules 1 / 7739
68
 (OMIM) Rhizomelic shortening 12 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Desmosterolosis is a rare autosomal recessive disorder characterized by multiple congenital anomalies and elevated levels of the cholesterol precursor desmosterol in plasma, tissue, and cultured cells (summary by Zolotushko et al., 2011).
Clinical Description OMIM FitzPatrick et al. (1998) reported the case of an infant with multiple lethal congenital malformations and osteosclerosis in whom there was generalized accumulation of an abnormal neutral sterol and a relative deficiency of cholesterol. The sterol was identified ...
Molecular genetics OMIM In 2 patients with desmosterolosis described by FitzPatrick et al. (1998) and Andersson et al. (2000, 2002), Waterham et al. (2001) identified mutations in the DHCR24 gene (606418.0001-606418.0003).

Andersson et al. (2000, 2002) described a boy ...