LATHOS
MCID: LTH002
MIFTS: 38

Lathosterolosis (LATHOS)

Categories: Bone diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Metabolic diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Lathosterolosis

MalaCards integrated aliases for Lathosterolosis:

Name: Lathosterolosis 57 20 58 72 36 29 13 54 6 39 70
Sterol C5-Desaturase Deficiency 57 20 58
Sc5d Deficiency 57 20
Lathos 57 72

Characteristics:

Orphanet epidemiological data:

58
lathosterolosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive


HPO:

31
lathosterolosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare eye diseases
Inborn errors of metabolism
Developmental anomalies during embryogenesis


Summaries for Lathosterolosis

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 46059 Definition Lathosterolosis is an extremely rare inborn error of sterol biosynthesis characterized by facial dysmorphism, congenital anomalies (including limb and kidney anomalies), failure to thrive, developmental delay and liver disease. Epidemiology Only 4 cases have been reported in the literature to date. Clinical description Microcephaly is present at birth along with hypotonia, failure to thrive and facial dysmorphic features such as bitemporal narrowing, ptosis, puffy cheeks, and micrognathia. Limb anomalies that have been reported include postaxial polydactyly of upper or lower limbs (mainly feet), bilateral syndactyly between the 2nd and 3rd or 2nd and 4th toes and bilateral club feet. Developmental delay and learning disability starting in early childhood have been noted in all patients. Additional anomalies have also been reported such as corneal clouding, cataract, conductive hearing loss, gingival hypertrophy, ambiguous genitalia, horseshoe kidney (see this term) and neurological manifestations (i.e. myoclonus). Liver disease seen in patients ranges from hypertransaminasemia to progressive cholestasis and can lead to end stage hepatic disease, occurring in childhood. Etiology Lathosterolosis is due to mutations in the SC5D gene (11q23.3). A mutation in this gene leads to a deficiency in 3-beta-hydroxysteroid-delta-5-desaturase, which is necessary in the conversion of lathosterol into 7-dehydrocholesterol. This prevents the synthesis of cholesterol, which among other functions acts as a structural lipid, a precursor for bile acids and steroid hormones, and is necessary for the maturation of hedgehog morphogens during embryonic development. Diagnostic methods Diagnosis is based on clinical and biochemical findings. An elevation of lathosterol by gas chromatography/mass spectroscopy (GC/MS) is noted in both skin fibroblasts and plasma. The levels of 7-dehydrocholesterol and cholesterol are normal or low. Molecular genetic testing revealing mutations in the SC5D gene confirms the diagnosis. Differential diagnosis The main differential diagnosis is Smith-Lemli-Opitz syndrome (see this term) that shares many clinical features with lathosterolosis but that can be excluded with biochemical and genetic testing. Antenatal diagnosis Prenatal diagnosis is feasible if the mutations are known but it has never been performed given the rarity of the disease. Genetic counseling Lathosterolosis is inherited in an autosomal recessive manner. The parents of an affected child are obligate heterozygotes and they therefore have a 25% chance of having an affected child with each pregnancy. Management and treatment Treatment involves cholesterol supplementation and reduction of 7-hydrocholesterol. Simvastin, a 3-hydroxy-3-methylglutaryl co- enzyme A (HMG-CoA) reductase inhibitor, has been proven to be beneficial in normalizing the lathosterol level in one patient. Liver transplantation was successful in normalizing liver function and cholesterol levels in a patient who had developed end stage liver disease. Moreover, it appeared to improve neurocognitive functions. Regular opthalmological evalutations and ultrasound monitoring of the liver are recommended. Prognosis The prognosis is poor but treatment appears to prolong life and arrest progression of neurological damage.

MalaCards based summary : Lathosterolosis, also known as sterol c5-desaturase deficiency, is related to smith-lemli-opitz syndrome and greenberg dysplasia. An important gene associated with Lathosterolosis is SC5D (Sterol-C5-Desaturase), and among its related pathways/superpathways is Steroid biosynthesis. Affiliated tissues include liver, kidney and eye, and related phenotypes are cataract and global developmental delay

OMIM® : 57 Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency (summary by Rossi et al., 2007). (607330) (Updated 20-May-2021)

KEGG : 36 Lathosterolosis is an inborn error of cholesterol biosynthesis caused by mutations in SC5D gene encoding lathosterol 5-desaturase. It is characterized by a complex phenotype, including multiple congenital anomalies, mental retardation, and liver disease.

UniProtKB/Swiss-Prot : 72 Lathosterolosis: An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage.

Wikipedia : 73 Lathosterolosis is a defect in cholesterol... more...

Related Diseases for Lathosterolosis

Diseases related to Lathosterolosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 15)
# Related Disease Score Top Affiliating Genes
1 smith-lemli-opitz syndrome 11.0
2 greenberg dysplasia 10.9
3 cataract 10.2
4 opitz gbbb syndrome, type i 10.0
5 mucolipidosis 10.0
6 cleft palate, isolated 9.9
7 chondrodysplasia punctata 2, x-linked dominant 9.9
8 congenital hemidysplasia with ichthyosiform erythroderma and limb defects 9.9
9 desmosterolosis 9.9
10 alacrima, achalasia, and mental retardation syndrome 9.9
11 autosomal recessive disease 9.9
12 microcephaly 9.9
13 cholestasis 9.9
14 liver disease 9.9
15 hypotonia 9.9

Graphical network of the top 20 diseases related to Lathosterolosis:



Diseases related to Lathosterolosis

Symptoms & Phenotypes for Lathosterolosis

Human phenotypes related to Lathosterolosis:

58 31 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cataract 58 31 very rare (1%) Very frequent (99-80%) HP:0000518
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 microcephaly 58 31 very rare (1%) Very frequent (99-80%) HP:0000252
4 specific learning disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001328
5 hypoplasia of penis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008736
6 postaxial foot polydactyly 58 31 very rare (1%) Very frequent (99-80%) HP:0001830
7 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
8 ptosis 58 31 very rare (1%) Frequent (79-30%) HP:0000508
9 cerebral calcification 58 31 frequent (33%) Frequent (79-30%) HP:0002514
10 high palate 58 31 very rare (1%) Frequent (79-30%) HP:0000218
11 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
12 hepatomegaly 58 31 frequent (33%) Frequent (79-30%) HP:0002240
13 gingival overgrowth 58 31 very rare (1%) Frequent (79-30%) HP:0000212
14 short nose 58 31 very rare (1%) Frequent (79-30%) HP:0003196
15 anteverted nares 58 31 very rare (1%) Frequent (79-30%) HP:0000463
16 full cheeks 58 31 frequent (33%) Frequent (79-30%) HP:0000293
17 opacification of the corneal stroma 58 31 very rare (1%) Frequent (79-30%) HP:0007759
18 myoclonus 58 31 frequent (33%) Frequent (79-30%) HP:0001336
19 biparietal narrowing 58 31 frequent (33%) Frequent (79-30%) HP:0004422
20 intrauterine growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0001511
21 micrognathia 58 31 very rare (1%) Frequent (79-30%) HP:0000347
22 horseshoe kidney 58 31 very rare (1%) Frequent (79-30%) HP:0000085
23 epicanthus 58 31 very rare (1%) Frequent (79-30%) HP:0000286
24 thrombocytopenia 58 31 frequent (33%) Frequent (79-30%) HP:0001873
25 downslanted palpebral fissures 58 31 very rare (1%) Frequent (79-30%) HP:0000494
26 meningocele 58 31 frequent (33%) Frequent (79-30%) HP:0002435
27 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
28 talipes 58 31 frequent (33%) Frequent (79-30%) HP:0001883
29 long philtrum 58 31 very rare (1%) Frequent (79-30%) HP:0000343
30 bulbous nose 58 31 frequent (33%) Frequent (79-30%) HP:0000414
31 arnold-chiari malformation 58 31 very rare (1%) Frequent (79-30%) HP:0002308
32 abnormal platelet morphology 58 31 frequent (33%) Frequent (79-30%) HP:0011875
33 hepatic failure 58 31 frequent (33%) Frequent (79-30%) HP:0001399
34 microcornea 58 31 frequent (33%) Frequent (79-30%) HP:0000482
35 toe syndactyly 58 31 very rare (1%) Frequent (79-30%) HP:0001770
36 prominent metopic ridge 58 31 frequent (33%) Frequent (79-30%) HP:0005487
37 postaxial hand polydactyly 58 31 very rare (1%) Frequent (79-30%) HP:0001162
38 sloping forehead 58 31 very rare (1%) Frequent (79-30%) HP:0000340
39 cerebellar cortical atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008278
40 narrow forehead 58 31 very rare (1%) Frequent (79-30%) HP:0000341
41 intrahepatic cholestasis 58 31 very rare (1%) Frequent (79-30%) HP:0001406
42 anisopoikilocytosis 58 31 very rare (1%) Frequent (79-30%) HP:0004823
43 seizure 31 very rare (1%) HP:0001250
44 hypotonia 31 very rare (1%) HP:0001252
45 abnormal thoracic spine morphology 31 frequent (33%) HP:0100711
46 intellectual disability 31 very rare (1%) HP:0001249
47 wide nasal bridge 31 very rare (1%) HP:0000431
48 osteoporosis 31 very rare (1%) HP:0000939
49 growth delay 31 very rare (1%) HP:0001510
50 elevated hepatic transaminase 31 very rare (1%) HP:0002910

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Eyes:
ptosis
cataract
epicanthal folds

Head And Neck Nose:
anteverted nares
broad nasal bridge

Head And Neck Face:
micrognathia
long philtrum
sloping forehead
bitemporal narrowing

Laboratory Abnormalities:
hyperbilirubinemia
elevated alkaline phosphatase
elevated transaminases
elevated lathosterol
absent 7-dehydrocholesterol
more
Hematology:
anisopoikilocytosis
large platelets
acanthocytes
schistocytes
vacuolated monocytes

Neurologic Central Nervous System:
hypotonia
lumbosacral meningocele
mental retardation
type ii arnold chiari malformation

Head And Neck Ears:
conductive hearing loss

Skeletal Hands:
postaxial hexadactyly

Skeletal Spine:
sagittal vertebral cleft

Head And Neck Head:
microcephaly

Skeletal:
osteoporosis
pathologic fracture

Genitourinary External Genitalia Male:
hypospadias

Abdomen Liver:
intrahepatic cholestasis

Skeletal Feet:
syndactyly
clubfeet
postaxial hexadactyly

Abdomen Biliary Tract:
bilobate gallbladder

Head And Neck Mouth:
high-arched palate
thin lips
prominent upper lip

Genitourinary Kidneys:
pyelectasis

Clinical features from OMIM®:

607330 (Updated 20-May-2021)

Drugs & Therapeutics for Lathosterolosis

Search Clinical Trials , NIH Clinical Center for Lathosterolosis

Genetic Tests for Lathosterolosis

Genetic tests related to Lathosterolosis:

# Genetic test Affiliating Genes
1 Lathosterolosis 29 SC5D

Anatomical Context for Lathosterolosis

MalaCards organs/tissues related to Lathosterolosis:

40
Liver, Kidney, Eye, Monocytes

Publications for Lathosterolosis

Articles related to Lathosterolosis:

(show all 23)
# Title Authors PMID Year
1
Lathosterolosis: an inborn error of human and murine cholesterol synthesis due to lathosterol 5-desaturase deficiency. 61 6 54 57
12812989 2003
2
Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties. 61 6 57
30097991 2019
3
Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. 6 61 57
24142275 2014
4
Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. 61 57 6
12189593 2002
5
Clinical phenotype of lathosterolosis. 57 61
17853487 2007
6
Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. 57 61
12668600 2003
7
Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. 57
2309789 1990
8
Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature. 61
33204591 2020
9
Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study. 61
31888647 2019
10
Lathosterolosis: An Extremely Rare Inherited Condition Associated With Progressive Liver Disease. 61
31259789 2019
11
Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. 61
25646736 2015
12
Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis. 61
24621408 2014
13
Sterol metabolism disorders and neurodevelopment-an update. 61
23798009 2013
14
Cholesterol metabolism deficiency. 61
23622407 2013
15
Malformation syndromes caused by disorders of cholesterol synthesis. 61
20929975 2011
16
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. 61
20305089 2010
17
Cataract development in a young patient with lathosterolosis: a clinicopathologic case report. 61
19123163 2009
18
Cholesterol precursors and facial clefting. 61
16955133 2006
19
Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. 61
16636072 2006
20
Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. 61
16231320 2005
21
Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. 61
15580635 2005
22
Human malformation syndromes due to inborn errors of cholesterol synthesis. 61
14631207 2003
23
A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. 61
12652302 2003

Variations for Lathosterolosis

ClinVar genetic disease variations for Lathosterolosis:

6 (show top 50) (show all 135)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 SC5D NM_006918.5(SC5D):c.86G>A (p.Arg29Gln) SNV Pathogenic 7354 rs104894295 GRCh37: 11:121174170-121174170
GRCh38: 11:121303461-121303461
2 SC5D NM_006918.5(SC5D):c.632G>A (p.Gly211Asp) SNV Pathogenic 7355 rs104894296 GRCh37: 11:121177953-121177953
GRCh38: 11:121307244-121307244
3 SC5D NM_006918.5(SC5D):c.137A>C (p.Tyr46Ser) SNV Pathogenic 7356 rs104894297 GRCh37: 11:121174221-121174221
GRCh38: 11:121303512-121303512
4 SC5D NM_006918.5(SC5D):c.223C>T (p.Arg75Ter) SNV Pathogenic 638393 rs1313359281 GRCh37: 11:121175082-121175082
GRCh38: 11:121304373-121304373
5 SC5D NM_006918.5(SC5D):c.630C>A (p.Asp210Glu) SNV Pathogenic 916041 GRCh37: 11:121177951-121177951
GRCh38: 11:121307242-121307242
6 SC5D NM_006918.5(SC5D):c.479C>G (p.Pro160Arg) SNV Pathogenic 916042 GRCh37: 11:121177800-121177800
GRCh38: 11:121307091-121307091
7 SC5D NM_006918.5(SC5D):c.442A>G (p.Lys148Glu) SNV Uncertain significance 811763 rs775350797 GRCh37: 11:121177193-121177193
GRCh38: 11:121306484-121306484
8 SC5D NM_006918.5(SC5D):c.*2879G>T SNV Uncertain significance 879972 GRCh37: 11:121181100-121181100
GRCh38: 11:121310391-121310391
9 SC5D NM_006918.5(SC5D):c.*3003T>A SNV Uncertain significance 879973 GRCh37: 11:121181224-121181224
GRCh38: 11:121310515-121310515
10 SC5D NM_006918.5(SC5D):c.*3006C>T SNV Uncertain significance 879974 GRCh37: 11:121181227-121181227
GRCh38: 11:121310518-121310518
11 SC5D NM_006918.5(SC5D):c.*3065C>T SNV Uncertain significance 879975 GRCh37: 11:121181286-121181286
GRCh38: 11:121310577-121310577
12 SC5D NM_006918.5(SC5D):c.*1305A>C SNV Uncertain significance 879925 GRCh37: 11:121179526-121179526
GRCh38: 11:121308817-121308817
13 SC5D NM_006918.5(SC5D):c.*4576T>A SNV Uncertain significance 880035 GRCh37: 11:121182797-121182797
GRCh38: 11:121312088-121312088
14 SC5D NM_006918.5(SC5D):c.*4756A>G SNV Uncertain significance 880036 GRCh37: 11:121182977-121182977
GRCh38: 11:121312268-121312268
15 SC5D NM_006918.5(SC5D):c.*1681T>C SNV Uncertain significance 877120 GRCh37: 11:121179902-121179902
GRCh38: 11:121309193-121309193
16 SC5D NM_006918.5(SC5D):c.*1685C>T SNV Uncertain significance 877121 GRCh37: 11:121179906-121179906
GRCh38: 11:121309197-121309197
17 SC5D NM_006918.5(SC5D):c.*1720C>T SNV Uncertain significance 877122 GRCh37: 11:121179941-121179941
GRCh38: 11:121309232-121309232
18 SC5D NM_006918.5(SC5D):c.*3110G>A SNV Uncertain significance 877179 GRCh37: 11:121181331-121181331
GRCh38: 11:121310622-121310622
19 SC5D NM_006918.5(SC5D):c.*3116T>C SNV Uncertain significance 877180 GRCh37: 11:121181337-121181337
GRCh38: 11:121310628-121310628
20 SC5D NM_006918.5(SC5D):c.*3175C>T SNV Uncertain significance 877181 GRCh37: 11:121181396-121181396
GRCh38: 11:121310687-121310687
21 SC5D NM_006918.5(SC5D):c.624T>G (p.Ile208Met) SNV Uncertain significance 877944 GRCh37: 11:121177945-121177945
GRCh38: 11:121307236-121307236
22 SC5D NM_006918.5(SC5D):c.662C>T (p.Pro221Leu) SNV Uncertain significance 877945 GRCh37: 11:121177983-121177983
GRCh38: 11:121307274-121307274
23 SC5D NM_006918.5(SC5D):c.843A>G (p.Ser281=) SNV Uncertain significance 878105 GRCh37: 11:121178164-121178164
GRCh38: 11:121307455-121307455
24 SC5D NM_006918.5(SC5D):c.*99C>T SNV Uncertain significance 878106 GRCh37: 11:121178320-121178320
GRCh38: 11:121307611-121307611
25 SC5D NM_006918.5(SC5D):c.*160G>A SNV Uncertain significance 878107 GRCh37: 11:121178381-121178381
GRCh38: 11:121307672-121307672
26 SC5D NM_006918.5(SC5D):c.*229G>A SNV Uncertain significance 878108 GRCh37: 11:121178450-121178450
GRCh38: 11:121307741-121307741
27 SC5D NM_006918.5(SC5D):c.*2212C>A SNV Uncertain significance 878152 GRCh37: 11:121180433-121180433
GRCh38: 11:121309724-121309724
28 SC5D NM_006918.5(SC5D):c.*2363G>A SNV Uncertain significance 878153 GRCh37: 11:121180584-121180584
GRCh38: 11:121309875-121309875
29 SC5D NM_006918.5(SC5D):c.*2430C>T SNV Uncertain significance 878154 GRCh37: 11:121180651-121180651
GRCh38: 11:121309942-121309942
30 SC5D NM_006918.5(SC5D):c.*5440A>G SNV Uncertain significance 878285 GRCh37: 11:121183661-121183661
GRCh38: 11:121312952-121312952
31 SC5D NM_006918.5(SC5D):c.*5717C>G SNV Uncertain significance 878286 GRCh37: 11:121183938-121183938
GRCh38: 11:121313229-121313229
32 SC5D NM_006918.5(SC5D):c.*5855G>A SNV Uncertain significance 878882 GRCh37: 11:121184076-121184076
GRCh38: 11:121313367-121313367
33 SC5D NM_006918.5(SC5D):c.*582A>G SNV Uncertain significance 879562 GRCh37: 11:121178803-121178803
GRCh38: 11:121308094-121308094
34 SC5D NM_006918.5(SC5D):c.*584C>T SNV Uncertain significance 879563 GRCh37: 11:121178805-121178805
GRCh38: 11:121308096-121308096
35 SC5D NM_006918.5(SC5D):c.*622C>T SNV Uncertain significance 879564 GRCh37: 11:121178843-121178843
GRCh38: 11:121308134-121308134
36 SC5D NM_006918.5(SC5D):c.*628C>T SNV Uncertain significance 879565 GRCh37: 11:121178849-121178849
GRCh38: 11:121308140-121308140
37 SC5D NM_006918.5(SC5D):c.*2802A>T SNV Uncertain significance 879614 GRCh37: 11:121181023-121181023
GRCh38: 11:121310314-121310314
38 SC5D NM_006918.5(SC5D):c.*2864G>T SNV Uncertain significance 879615 GRCh37: 11:121181085-121181085
GRCh38: 11:121310376-121310376
39 SC5D NM_006918.5(SC5D):c.*2873A>G SNV Uncertain significance 879616 GRCh37: 11:121181094-121181094
GRCh38: 11:121310385-121310385
40 SC5D NM_006918.5(SC5D):c.*3937C>T SNV Uncertain significance 879666 GRCh37: 11:121182158-121182158
GRCh38: 11:121311449-121311449
41 SC5D NM_006918.5(SC5D):c.*4087T>C SNV Uncertain significance 879667 GRCh37: 11:121182308-121182308
GRCh38: 11:121311599-121311599
42 SC5D NM_006918.5(SC5D):c.*3246C>T SNV Uncertain significance 877183 GRCh37: 11:121181467-121181467
GRCh38: 11:121310758-121310758
43 SC5D NM_006918.5(SC5D):c.*5200C>T SNV Uncertain significance 877241 GRCh37: 11:121183421-121183421
GRCh38: 11:121312712-121312712
44 SC5D NM_006918.5(SC5D):c.*5210C>T SNV Uncertain significance 877242 GRCh37: 11:121183431-121183431
GRCh38: 11:121312722-121312722
45 SC5D NM_006918.5(SC5D):c.*5255A>T SNV Uncertain significance 877243 GRCh37: 11:121183476-121183476
GRCh38: 11:121312767-121312767
46 SC5D NM_006918.5(SC5D):c.*5260A>G SNV Uncertain significance 877244 GRCh37: 11:121183481-121183481
GRCh38: 11:121312772-121312772
47 SC5D NM_006918.5(SC5D):c.344-15C>T SNV Uncertain significance 877943 GRCh37: 11:121177080-121177080
GRCh38: 11:121306371-121306371
48 SC5D NM_006918.5(SC5D):c.*4454G>A SNV Uncertain significance 879669 GRCh37: 11:121182675-121182675
GRCh38: 11:121311966-121311966
49 SC5D NM_006918.5(SC5D):c.*4469G>A SNV Uncertain significance 879670 GRCh37: 11:121182690-121182690
GRCh38: 11:121311981-121311981
50 SC5D NM_006918.5(SC5D):c.151A>G (p.Thr51Ala) SNV Uncertain significance 879882 GRCh37: 11:121174235-121174235
GRCh38: 11:121303526-121303526

UniProtKB/Swiss-Prot genetic disease variations for Lathosterolosis:

72
# Symbol AA change Variation ID SNP ID
1 SC5D p.Arg29Gln VAR_014423 rs104894295
2 SC5D p.Gly211Asp VAR_014424 rs104894296
3 SC5D p.Tyr46Ser VAR_020829 rs104894297

Expression for Lathosterolosis

Search GEO for disease gene expression data for Lathosterolosis.

Pathways for Lathosterolosis

Pathways related to Lathosterolosis according to KEGG:

36
# Name Kegg Source Accession
1 Steroid biosynthesis hsa00100

GO Terms for Lathosterolosis

Sources for Lathosterolosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....