Lathosterolosis

General Information (adopted from Orphanet):

Synonyms, Signs: SC5D DEFICIENCY
sterol c5-desaturase deficiency
Number of Symptoms 88
OrphanetNr: 46059
OMIM Id: 607330
ICD-10: Q87.8
UMLs: C1846421
MeSH: C537880
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 5 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Developmental anomaly of metabolic origin
 -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:0000085) Horseshoe kidney 1/3 [HPO] 39 / 7739
2
 (HPO:0000054) Micropenis Very frequent [Orphanet] 257 / 7739
3
 (HPO:0000033) Ambiguous genitalia, male 1/3 [HPO] 12812989 IBIS 9 / 7739
4
 (HPO:0100542) Abnormal localization of kidney Frequent [Orphanet] 64 / 7739
5
 (HPO:0000463) Anteverted nares Frequent [Orphanet] 1/3 [HPO] 17853487 IBIS 305 / 7739
6
 (HPO:0000341) Narrow forehead Frequent [Orphanet] 1/3 [HPO] 17853487 IBIS 96 / 7739
7
 (HPO:0002705) High, narrow palate Frequent [Orphanet] 308 / 7739
8
 (HPO:0000212) Gingival overgrowth 2/3 [HPO] 43 / 7739
9
 (HPO:0000252) Microcephaly Very frequent [Orphanet] 3/3 [HPO] 832 / 7739
10
 (HPO:0005487) Prominent metopic ridge Frequent [Orphanet] 28 / 7739
11
 (HPO:0005105) Abnormal nasal morphology Frequent [Orphanet] 114 / 7739
12
 (HPO:0000494) Downslanted palpebral fissures Frequent [Orphanet] 1/3 [HPO] 17853487 IBIS 328 / 7739
13
 (HPO:0000277) Abnormality of the mandible Frequent [Orphanet] 394 / 7739
14
 (HPO:0000286) Epicanthus Frequent [Orphanet] 1/3 [HPO] 17853487 IBIS 371 / 7739
15
 (HPO:0000218) High palate 2/3 [HPO] 356 / 7739
16
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 1/3 [HPO] 17853487 IBIS 86 / 7739
17
 (HPO:0000347) Micrognathia 2/3 [HPO] 426 / 7739
18
 (HPO:0000233) Thin vermilion border 1/3 [HPO] 12189593 IBIS 124 / 7739
19
 (HPO:0000343) Long philtrum Frequent [Orphanet] 1/3 [HPO] 12189593 IBIS 262 / 7739
20
 (HPO:0003196) Short nose Frequent [Orphanet] 2/3 [HPO] 264 / 7739
21
 (HPO:0000215) Thick upper lip vermilion 1/3 [HPO] 12189593 IBIS 17 / 7739
22
 (HPO:0000431) Wide nasal bridge 1/3 [HPO] 12189593 IBIS 290 / 7739
23
 (HPO:0000168) Abnormality of the gingiva Frequent [Orphanet] 51 / 7739
24
 (HPO:0002714) Downturned corners of mouth Frequent [Orphanet] 98 / 7739
25
 (HPO:0007759) Opacification of the corneal stroma 1/3 [HPO] 77 / 7739
26
 (HPO:0000481) Abnormality of the cornea Frequent [Orphanet] 124 / 7739
27
 (HPO:0000482) Microcornea Frequent [Orphanet] 102 / 7739
28
 (HPO:0000508) Ptosis Frequent [Orphanet] 2/3 [HPO] 459 / 7739
29
 (HPO:0000518) Cataract Very frequent [Orphanet] 2/3 [HPO] 454 / 7739
30
 (HPO:0000405) Conductive hearing impairment 1/2 [HPO] 17853487 IBIS 164 / 7739
31
 (HPO:0000365) Hearing impairment Frequent [Orphanet] 539 / 7739
32
 (HPO:0001249) Intellectual disability 1/3 [HPO] 12189593 IBIS 1089 / 7739
33
 (HPO:0001250) Seizures Frequent [Orphanet] 1/3 [HPO] 2309789 IBIS 1245 / 7739
34
 (HPO:0004305) Involuntary movements Frequent [Orphanet] 50 / 7739
35
 (HPO:0000939) Osteoporosis 1/3 [HPO] 17853487 IBIS 129 / 7739
36
 (HPO:0100259) Postaxial polydactyly 85 / 7739
37
 (HPO:0200133) Lumbosacral meningocele 2 / 7739
38
 (HPO:0002475) Myelomeningocele 1/3 [HPO] 12189593 IBIS 29 / 7739
39
 (HPO:0001159) Syndactyly 140 / 7739
40
 (HPO:0002514) Cerebral calcification Frequent [Orphanet] 89 / 7739
41
 (HPO:0001762) Talipes equinovarus Frequent [Orphanet] 1/3 [HPO] 12189593 IBIS 309 / 7739
42
 (HPO:0002435) Meningocele Frequent [Orphanet] 23 / 7739
43
 (HPO:0003316) Butterfly vertebrae 1/3 [HPO] 6 / 7739
44
 (HPO:0001830) Postaxial foot polydactyly Very frequent [Orphanet] 3/3 [HPO] 37 / 7739
45
 (HPO:0001162) Postaxial hand polydactyly Frequent [Orphanet] 1/3 [HPO] 17853487 IBIS 119 / 7739
46
 (HPO:0002756) Pathologic fracture 1/3 [HPO] 12189593 IBIS 30 / 7739
47
 (HPO:0001770) Toe syndactyly Frequent [Orphanet] 3/3 [HPO] 149 / 7739
48
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
49
 (HPO:0005608) Bilobate gallbladder 1/3 [HPO] 12189593 IBIS 3 / 7739
50
 (HPO:0002910) Elevated hepatic transaminases 1/3 [HPO] 158 / 7739
51
 (HPO:0001396) Cholestasis Frequent [Orphanet] 136 / 7739
52
 (HPO:0001433) Hepatosplenomegaly 1/3 [HPO] 2309789 IBIS 78 / 7739
53
 (HPO:0001399) Hepatic failure Frequent [Orphanet] 80 / 7739
54
 (HPO:0001406) Intrahepatic cholestasis 1/3 [HPO] 15580635 IBIS 16 / 7739
55
 (HPO:0002240) Hepatomegaly Frequent [Orphanet] 467 / 7739
56
 (HPO:0001510) Growth delay 2/2 [HPO] 17853487 IBIS 295 / 7739
57
 (HPO:0001511) Intrauterine growth retardation Frequent [Orphanet] 358 / 7739
58
 (HPO:0004325) Decreased body weight Frequent [Orphanet] 492 / 7739
59
 (HPO:0003609) Foam cells with lamellar inclusion bodies 2/2 [HPO] 4 / 7739
60
 (HPO:0011875) Abnormal platelet morphology Frequent [Orphanet] 8 / 7739
61
 (HPO:0001981) Schistocytosis 1/3 [HPO] 17853487 IBIS 7 / 7739
62
 (HPO:0001927) Acanthocytosis 1/3 [HPO] 17853487 IBIS 11 / 7739
63
 (HPO:0004823) Anisopoikilocytosis 1/3 [HPO] 17853487 IBIS 4 / 7739
64
 (HPO:0004447) Poikilocytosis Frequent [Orphanet] 16 / 7739
65
 (HPO:0001873) Thrombocytopenia Frequent [Orphanet] 224 / 7739
66
 (HPO:0011877) Increased mean platelet volume 9 / 7739
67
 (HPO:0003107) Abnormality of cholesterol metabolism 2/2 [HPO] 4 / 7739
68
 (HPO:0002904) Hyperbilirubinemia 1/3 [HPO] 32 / 7739
69
 (HPO:0003155) Elevated alkaline phosphatase 1/3 [HPO] 52 / 7739
70
 (HPO:0010547) Muscle flaccidity 466 / 7739
71
 (HPO:0001324) Muscle weakness 859 / 7739
72
 (HPO:0001252) Muscular hypotonia Frequent [Orphanet] 1/3 [HPO] 12189593 IBIS 990 / 7739
73
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
74
 (OMIM) Fibroblasts show lamellar lysosomal inclusions on electron microscopy 1 / 7739
75
 (HPO:0002120) Cerebral cortical atrophy Frequent [Orphanet] 187 / 7739
76
 (OMIM) Vacuolated monocytes 1 / 7739
77
 (OMIM) Sagittal vertebral cleft 1 / 7739
78
 (HPO:0002308) Arnold-Chiari malformation Frequent [Orphanet] 1/3 [HPO] 12189593 IBIS 42 / 7739
79
 (OMIM) Absent 7-dehydrocholesterol 1 / 7739
80
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
81
 (OMIM) Elevated lathosterol 1 / 7739
82
 (OMIM) Normal cholesterol 1 / 7739
83
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
84
 (HPO:0002059) Cerebral atrophy 1/3 [HPO] 2309789 IBIS 171 / 7739
85
 (OMIM) Decreased 3-beta-hydroxysteroid-delta-5-desaturase (SC5D) 1 / 7739
86
 (OMIM) Pyelectasis 2 / 7739
87
 (OMIM) Elevated ammonia 1 / 7739
88
 (OMIM) Elevated gamma-glutamyltransferase 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Brunetti-Pierri et al. (2002) reported the clinical, biochemical, and molecular characterization of a patient with a previously undescribed defect of cholesterol biosynthesis. The female patient presented with a complex phenotype, including multiple congenital anomalies, mental retardation, and liver ...
Molecular genetics OMIM In the patient they reported with lathosterolosis, Brunetti-Pierri et al. (2002) identified compound heterozygosity for missense mutations in the SC5DL gene (602286.0001-602286.0002).

In a patient with lathosterolosis, Krakowiak et al. (2003) identified a homozygous missense mutation ...