Lathosterolosis disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Lathosterolosis

MalaCards integrated aliases for Lathosterolosis:

Name: Lathosterolosis ⁵⁷ ¹⁹ ⁵⁸ ⁷³ ²⁸ ¹² ⁵³ ⁵ ³⁸ ⁷¹ ⁷⁵

Sterol C5-Desaturase Deficiency ⁵⁷ ¹⁹ ⁵⁸

Sc5d Deficiency ⁵⁷ ¹⁹

Lathos ⁵⁷ ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁸ ⁵⁷

Prevelance:

<1/1000000 (Worldwide) ⁵⁸

Age Of Onset:

Neonatal ⁵⁸

Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Metabolic diseases Fetal diseases
Anatomical: Neuronal diseases Eye diseases

See all MalaCards categories (disease lists)

ICD10: ³²

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Other specified congenital malformation syndromes, not elsewhere classified

Orphanet: ⁵⁸

Rare neurological diseases

Rare eye diseases

Inborn errors of metabolism

Developmental anomalies during embryogenesis

External Ids:

OMIM® ⁵⁷ 607330

MeSH ⁴³ D043202

MESH via Orphanet ⁴⁴ C537880

ICD10 via Orphanet ³² Q87.8

UMLS via Orphanet ⁷² C1846421

Orphanet ⁵⁸ ORPHA46059

MedGen ⁴⁰ C1846421

UMLS ⁷¹ C1846421

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Summaries for Lathosterolosis

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 08-Dec-2022)

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). The drugs 7-dehydrocholesterol and Dehydrocholesterols have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and eye, and related phenotypes are cataract and global developmental delay

GARD: ¹⁹ 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.

Orphanet: ⁵⁸ 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.

UniProtKB/Swiss-Prot: ⁷³ An autosomal recessive disorder characterized by multiple congenital anomalies affecting axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage.

Wikipedia: ⁷⁵ Lathosterolosis is a defect in cholesterol... more...

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Related Diseases for Lathosterolosis

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

(show all 17)

#	Related Disease	Score
1	smith-lemli-opitz syndrome	11.0
2	greenberg dysplasia	11.0
3	cataract	10.2
4	opitz gbbb syndrome	10.0
5	mucolipidosis	10.0
6	cleft palate, isolated	9.9
7	neural tube defects	9.9
8	autism	9.9
9	chondrodysplasia punctata 2, x-linked dominant	9.9
10	congenital hemidysplasia with ichthyosiform erythroderma and limb defects	9.9
11	desmosterolosis	9.9
12	autism spectrum disorder	9.9
13	x-linked chondrodysplasia punctata 2	9.9
14	microcephaly	9.9
15	cholestasis	9.9
16	liver disease	9.9
17	hypotonia	9.9

Graphical network of the top 20 diseases related to Lathosterolosis:

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Symptoms & Phenotypes for Lathosterolosis

Human phenotypes related to Lathosterolosis:

⁵⁸ ³⁰ (show top 50) (show all 72)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	cataract ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0000518
2	global developmental delay ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001263
3	microcephaly ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0000252
4	specific learning disability ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0001328
5	hypoplasia of penis ⁵⁸ ³⁰	Hallmark (90%)	Very frequent (99-80%)	HP:0008736
6	postaxial foot polydactyly ⁵⁸ ³⁰	Very rare (1%)	Very frequent (99-80%)	HP:0001830
7	seizure ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001250
8	failure to thrive ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001508
9	ptosis ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000508
10	cerebral calcification ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002514
11	high palate ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000218
12	hypotonia ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001252
13	hearing impairment ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000365
14	hepatomegaly ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002240
15	gingival overgrowth ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000212
16	short nose ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0003196
17	anteverted nares ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000463
18	full cheeks ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000293
19	opacification of the corneal stroma ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0007759
20	myoclonus ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001336
21	biparietal narrowing ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0004422
22	intrauterine growth retardation ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001511
23	micrognathia ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000347
24	horseshoe kidney ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000085
25	epicanthus ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000286
26	thrombocytopenia ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001873
27	downslanted palpebral fissures ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000494
28	meningocele ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002435
29	downturned corners of mouth ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0002714
30	talipes ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001883
31	long philtrum ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000343
32	bulbous nose ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000414
33	hepatic failure ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0001399
34	microcornea ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0000482
35	toe syndactyly ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001770
36	prominent metopic ridge ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0005487
37	postaxial hand polydactyly ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001162
38	sloping forehead ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000340
39	cerebellar cortical atrophy ⁵⁸ ³⁰	Frequent (33%)	Frequent (79-30%)	HP:0008278
40	narrow forehead ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0000341
41	intrahepatic cholestasis ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0001406
42	anisopoikilocytosis ⁵⁸ ³⁰	Very rare (1%)	Frequent (79-30%)	HP:0004823
43	chiari malformation ³⁰	Very rare (1%)		HP:0002308
44	abnormal thoracic spine morphology ³⁰	Frequent (33%)		HP:0100711
45	intellectual disability ³⁰	Very rare (1%)		HP:0001249
46	wide nasal bridge ³⁰	Very rare (1%)		HP:0000431
47	osteoporosis ³⁰	Very rare (1%)		HP:0000939
48	growth delay ³⁰	Very rare (1%)		HP:0001510
49	elevated hepatic transaminase ³⁰	Very rare (1%)		HP:0002910
50	talipes equinovarus ³⁰	Very rare (1%)		HP:0001762

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Head And Neck Eyes:
ptosis
cataract
epicanthal folds

Head And Neck Head:
microcephaly

Skeletal:
osteoporosis
pathologic fracture

Genitourinary External Genitalia Male:
hypospadias

Abdomen Liver:
intrahepatic cholestasis

Skeletal Feet:
syndactyly
clubfeet
postaxial hexadactyly

Head And Neck Ears:
conductive hearing loss

Skeletal Hands:
postaxial hexadactyly

Skeletal Spine:
sagittal vertebral cleft

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

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

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 08-Dec-2022)

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Drugs & Therapeutics for Lathosterolosis

Drugs for Lathosterolosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

#

Name

Status

Phase

Clinical Trials

Cas Number

PubChem Id

1

7-dehydrocholesterol

434-16-2

439423

2

Dehydrocholesterols

Interventional clinical trials:

#	Name	Status	NCT ID	Phase	Drugs
1	Natural History Investigation Into Biochemical and Phenotypical Aspects of Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Metabolism	Recruiting	NCT05047354

Search NIH Clinical Center for Lathosterolosis

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Genetic Tests for Lathosterolosis

Genetic tests related to Lathosterolosis:

#	Genetic test	Affiliating Genes
1	Lathosterolosis ²⁸	SC5D

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Anatomical Context for Lathosterolosis

Organs/tissues related to Lathosterolosis:

MalaCards : Liver, Kidney, Eye, Monocytes, Bone Marrow, Bone

ODiseA: Blood And Bone Marrow

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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. ⁵³ ⁶² ⁵⁷ ⁵	Krakowiak PA...Porter FD	12812989	2003
2	Lathosterolosis: A Relatively Mild Case with Cataracts and Learning Difficulties. ⁶² ⁵⁷ ⁵	Anderson R...Morris AAM	30097991	2019
3	Lathosterolosis: a disorder of cholesterol biosynthesis resembling smith-lemli-opitz syndrome. ⁶² ⁵⁷ ⁵	Ho AC...Wong VC	24142275	2014
4	Lathosterolosis, a novel multiple-malformation/mental retardation syndrome due to deficiency of 3beta-hydroxysteroid-delta5-desaturase. ⁶² ⁵⁷ ⁵	Brunetti-Pierri N...Parenti G	12189593	2002
5	Clinical phenotype of lathosterolosis. ⁶² ⁵⁷	Rossi M...Parenti G	17853487	2007
6	Disorders of cholesterol biosynthesis: prototypic metabolic malformation syndromes. ⁶² ⁵⁷	Herman GE	12668600	2003
7	Apparent Smith-Lemli-Opitz syndrome in a child with a previously undescribed form of mucolipidosis not involving the neurons. ⁵⁷	Parnes S...MacDonald I	2309789	1990
8	Successful treatment of lathosterolosis: A rare defect in cholesterol biosynthesis-A case report and review of literature. ⁶²	Yaplito-Lee J...Amor DJ	33204591	2020
9	Age-related changes of cholestanol and lathosterol plasma concentrations: an explorative study. ⁶²	Gelzo M...Dello Russo A	31888647	2019
10	Lathosterolosis: An Extremely Rare Inherited Condition Associated With Progressive Liver Disease. ⁶²	Prasun P...Arnon R	31259789	2019
11	Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis. ⁶²	Rossi M...Offiah AC	25646736	2015
12	Liver transplantation in defects of cholesterol biosynthesis: the case of lathosterolosis. ⁶²	Calvo PL...Salizzoni M	24621408	2014
13	Sterol metabolism disorders and neurodevelopment-an update. ⁶²	Kanungo S...Steiner RD	23798009	2013
14	Cholesterol metabolism deficiency. ⁶²	Jira P	23622407	2013
15	Malformation syndromes caused by disorders of cholesterol synthesis. ⁶²	Porter FD...Herman GE	20929975	2011
16	Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiency. ⁶²	Jiang XS...Porter FD	20305089	2010
17	Cataract development in a young patient with lathosterolosis: a clinicopathologic case report. ⁶²	Cavallini GM...Ferrari P	19123163	2009
18	Cholesterol precursors and facial clefting. ⁶²	Porter FD	16955133	2006
19	Abnormal sterols in cholesterol-deficiency diseases cause secretory granule malformation and decreased membrane curvature. ⁶²	Gondre-Lewis MC...Loh YP	16636072	2006
20	Sterol profiling of amniotic fluid: a routine method for the detection of distal cholesterol synthesis deficit. ⁶²	Chevy F...Wolf C	16231320	2005
21	Characterization of liver involvement in defects of cholesterol biosynthesis: long-term follow-up and review. ⁶²	Rossi M...Parenti G	15580635	2005
22	Human malformation syndromes due to inborn errors of cholesterol synthesis. ⁶²	Porter FD	14631207	2003
23	A defective response to Hedgehog signaling in disorders of cholesterol biosynthesis. ⁶²	Cooper MK...Beachy PA	12652302	2003

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Genes for Lathosterolosis

Genes related to Lathosterolosis (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SC5D	Sterol-C5-Desaturase	Protein Coding	1712.4	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative germline mutation ⁵⁸ Causative variation ⁷³ Genetic Tests ²⁸ Likely pathogenic ⁵ Novoseek inferred ⁵³ GeneCards inferred via : Disorders Publications Summaries (show sections)	12189593 12812989 24142275 (more) 30097991

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Variations for Lathosterolosis

ClinVar genetic disease variations for Lathosterolosis:

⁵ (show top 50) (show all 139)

#	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.630C>A (p.Asp210Glu)	SNV	Pathogenic	916041	rs760167278	GRCh37: 11:121177951-121177951 GRCh38: 11:121307242-121307242
5	SC5D	NM_006918.5(SC5D):c.479C>G (p.Pro160Arg)	SNV	Pathogenic	916042	rs1947971579	GRCh37: 11:121177800-121177800 GRCh38: 11:121307091-121307091
6	SC5D	NM_006918.5(SC5D):c.223C>T (p.Arg75Ter)	SNV	Pathogenic	638393	rs1313359281	GRCh37: 11:121175082-121175082 GRCh38: 11:121304373-121304373
7	SC5D	NM_006918.5(SC5D):c.268_269del (p.Leu90fs)	DEL	Likely Pathogenic	1679342		GRCh37: 11:121175126-121175127 GRCh38: 11:121304417-121304418
8	SC5D	NM_006918.5(SC5D):c.753C>T (p.Gly251=)	SNV	Uncertain Significance	303056	rs201959036	GRCh37: 11:121178074-121178074 GRCh38: 11:121307365-121307365
9	SC5D	NM_006918.5(SC5D):c.608T>C (p.Ile203Thr)	SNV	Uncertain Significance	1722313		GRCh37: 11:121177929-121177929 GRCh38: 11:121307220-121307220
10	SC5D	NM_006918.4(SC5D):c.-127T>G	SNV	Uncertain Significance	303048	rs886047847	GRCh37: 11:121163409-121163409 GRCh38: 11:121292700-121292700
11	SC5D	NM_006918.4(SC5D):c.-94C>G	SNV	Uncertain Significance	303049	rs886047848	GRCh37: 11:121163442-121163442 GRCh38: 11:121292733-121292733
12	SC5D	NM_006918.4(SC5D):c.-91C>G	SNV	Uncertain Significance	303050	rs886047849	GRCh37: 11:121163445-121163445 GRCh38: 11:121292736-121292736
13	SC5D	NM_006918.5(SC5D):c.442A>G (p.Lys148Glu)	SNV	Uncertain Significance	811763	rs775350797	GRCh37: 11:121177193-121177193 GRCh38: 11:121306484-121306484
14	SC5D	NM_006918.5(SC5D):c.344-15C>T	SNV	Uncertain Significance	877943	rs570720353	GRCh37: 11:121177080-121177080 GRCh38: 11:121306371-121306371
15	SC5D	NM_006918.5(SC5D):c.656T>C (p.Leu219Ser)	SNV	Uncertain Significance	1333349		GRCh37: 11:121177977-121177977 GRCh38: 11:121307268-121307268
16	SC5D	NM_006918.5(SC5D):c.535C>T (p.Pro179Ser)	SNV	Uncertain Significance	1679319		GRCh37: 11:121177856-121177856 GRCh38: 11:121307147-121307147
17	SC5D	NM_006918.5(SC5D):c.*3346G>A	SNV	Uncertain Significance	303096	rs745556623	GRCh37: 11:121181567-121181567 GRCh38: 11:121310858-121310858
18	SC5D	NM_006918.5(SC5D):c.*4576T>A	SNV	Uncertain Significance	880035	rs183742147	GRCh37: 11:121182797-121182797 GRCh38: 11:121312088-121312088
19	SC5D	NM_006918.5(SC5D):c.*4756A>G	SNV	Uncertain Significance	880036	rs566838476	GRCh37: 11:121182977-121182977 GRCh38: 11:121312268-121312268
20	SC5D	NM_006918.5(SC5D):c.*4454G>A	SNV	Uncertain Significance	879669	rs1026656844	GRCh37: 11:121182675-121182675 GRCh38: 11:121311966-121311966
21	SC5D	NM_006918.5(SC5D):c.*4469G>A	SNV	Uncertain Significance	879670	rs73017147	GRCh37: 11:121182690-121182690 GRCh38: 11:121311981-121311981
22	SC5D	NM_006918.5(SC5D):c.151A>G (p.Thr51Ala)	SNV	Uncertain Significance	879882	rs1565568966	GRCh37: 11:121174235-121174235 GRCh38: 11:121303526-121303526
23	SC5D	NM_006918.5(SC5D):c.181G>A (p.Ala61Thr)	SNV	Uncertain Significance	879883	rs1947941103	GRCh37: 11:121174265-121174265 GRCh38: 11:121303556-121303556
24	SC5D	NM_006918.5(SC5D):c.*1305A>C	SNV	Uncertain Significance	879925	rs750271628	GRCh37: 11:121179526-121179526 GRCh38: 11:121308817-121308817
25	SC5D	NM_006918.5(SC5D):c.*2879G>T	SNV	Uncertain Significance	879972	rs1948000294	GRCh37: 11:121181100-121181100 GRCh38: 11:121310391-121310391
26	SC5D	NM_006918.5(SC5D):c.*3003T>A	SNV	Uncertain Significance	879973	rs915768614	GRCh37: 11:121181224-121181224 GRCh38: 11:121310515-121310515
27	SC5D	NM_006918.5(SC5D):c.*3006C>T	SNV	Uncertain Significance	879974	rs890214835	GRCh37: 11:121181227-121181227 GRCh38: 11:121310518-121310518
28	SC5D	NM_006918.5(SC5D):c.*3065C>T	SNV	Uncertain Significance	879975	rs756525915	GRCh37: 11:121181286-121181286 GRCh38: 11:121310577-121310577
29	SC5D	NM_006918.5(SC5D):c.*3246C>T	SNV	Uncertain Significance	877183	rs1274821065	GRCh37: 11:121181467-121181467 GRCh38: 11:121310758-121310758
30	SC5D	NM_006918.5(SC5D):c.*5200C>T	SNV	Uncertain Significance	877241	rs183946033	GRCh37: 11:121183421-121183421 GRCh38: 11:121312712-121312712
31	SC5D	NM_006918.5(SC5D):c.*5210C>T	SNV	Uncertain Significance	877242	rs1948020352	GRCh37: 11:121183431-121183431 GRCh38: 11:121312722-121312722
32	SC5D	NM_006918.5(SC5D):c.*5255A>T	SNV	Uncertain Significance	877243	rs557724633	GRCh37: 11:121183476-121183476 GRCh38: 11:121312767-121312767
33	SC5D	NM_006918.5(SC5D):c.*5260A>G	SNV	Uncertain Significance	877244	rs565484939	GRCh37: 11:121183481-121183481 GRCh38: 11:121312772-121312772
34	SC5D	NM_006918.5(SC5D):c.624T>G (p.Ile208Met)	SNV	Uncertain Significance	877944	rs1947973083	GRCh37: 11:121177945-121177945 GRCh38: 11:121307236-121307236
35	SC5D	NM_006918.5(SC5D):c.662C>T (p.Pro221Leu)	SNV	Uncertain Significance	877945	rs1947973564	GRCh37: 11:121177983-121177983 GRCh38: 11:121307274-121307274
36	SC5D	NM_006918.5(SC5D):c.843A>G (p.Ser281=)	SNV	Uncertain Significance	878105	rs778899115	GRCh37: 11:121178164-121178164 GRCh38: 11:121307455-121307455
37	SC5D	NM_006918.5(SC5D):c.*99C>T	SNV	Uncertain Significance	878106	rs1947977662	GRCh37: 11:121178320-121178320 GRCh38: 11:121307611-121307611
38	SC5D	NM_006918.5(SC5D):c.*160G>A	SNV	Uncertain Significance	878107	rs568068471	GRCh37: 11:121178381-121178381 GRCh38: 11:121307672-121307672
39	SC5D	NM_006918.5(SC5D):c.*229G>A	SNV	Uncertain Significance	878108	rs928598332	GRCh37: 11:121178450-121178450 GRCh38: 11:121307741-121307741
40	SC5D	NM_006918.5(SC5D):c.*2212C>A	SNV	Uncertain Significance	878152	rs930790807	GRCh37: 11:121180433-121180433 GRCh38: 11:121309724-121309724
41	SC5D	NM_006918.5(SC5D):c.*2363G>A	SNV	Uncertain Significance	878153	rs1947996125	GRCh37: 11:121180584-121180584 GRCh38: 11:121309875-121309875
42	SC5D	NM_006918.5(SC5D):c.*2430C>T	SNV	Uncertain Significance	878154	rs529785402	GRCh37: 11:121180651-121180651 GRCh38: 11:121309942-121309942
43	SC5D	NM_006918.5(SC5D):c.*5440A>G	SNV	Uncertain Significance	878285	rs1948022595	GRCh37: 11:121183661-121183661 GRCh38: 11:121312952-121312952
44	SC5D	NM_006918.5(SC5D):c.*5717C>G	SNV	Uncertain Significance	878286	rs912515665	GRCh37: 11:121183938-121183938 GRCh38: 11:121313229-121313229
45	SC5D	NM_006918.5(SC5D):c.*5855G>A	SNV	Uncertain Significance	878882	rs762824572	GRCh37: 11:121184076-121184076 GRCh38: 11:121313367-121313367
46	SC5D	NM_006918.5(SC5D):c.*582A>G	SNV	Uncertain Significance	879562	rs11551924	GRCh37: 11:121178803-121178803 GRCh38: 11:121308094-121308094
47	SC5D	NM_006918.5(SC5D):c.*584C>T	SNV	Uncertain Significance	879563	rs1035758340	GRCh37: 11:121178805-121178805 GRCh38: 11:121308096-121308096
48	SC5D	NM_006918.5(SC5D):c.*622C>T	SNV	Uncertain Significance	879564	rs184338020	GRCh37: 11:121178843-121178843 GRCh38: 11:121308134-121308134
49	SC5D	NM_006918.5(SC5D):c.*628C>T	SNV	Uncertain Significance	879565	rs973950376	GRCh37: 11:121178849-121178849 GRCh38: 11:121308140-121308140
50	SC5D	NM_006918.5(SC5D):c.*2802A>T	SNV	Uncertain Significance	879614	rs1947999658	GRCh37: 11:121181023-121181023 GRCh38: 11:121310314-121310314

UniProtKB/Swiss-Prot genetic disease variations for Lathosterolosis:

⁷³

#	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

Sources

Expression for Lathosterolosis

Search GEO for disease gene expression data for Lathosterolosis.

Sources

Pathways for Lathosterolosis

Sources

GO Terms for Lathosterolosis

Sources

Sources for Lathosterolosis

¹ BitterDB

² CDC

³ Cell Signaling Technology

⁴ ClinicalTrials

⁵ ClinVar

⁶ CNVD

⁷ Cochrane Library

⁸ Cosmic

⁹ dbSNP

¹⁰ DGIdb

¹¹ Disease Ontology

¹² diseasecard

¹³ DiseaseEnhancer

¹⁴ DISEASES

¹⁵ DrugBank

¹⁶ EFO

¹⁷ ExPASy

¹⁸ FMA

¹⁹ GARD

²⁰ GeneAnalytics

²¹ GeneCards

²² GeneGo (Thomson Reuters)

²³ GeneHancer via GeneCards

²⁴ GeneReviews

²⁵ GenomeRNAi

²⁶ GEO DataSets

²⁷ GO

²⁸ GTR

²⁹ HMDB

³⁰ HPO

³¹ ICD10

³² ICD10 via Orphanet

³³ ICD11

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ LifeMap

³⁷ LncRNADisease

³⁸ LOVD

³⁹ MalaCards

⁴⁰ MedGen

⁴¹ MedlinePlus

⁴² MedlinePlus Genetics

⁴³ MeSH

⁴⁴ MESH via Orphanet

⁴⁵ MGI

⁴⁶ miR2Disease

⁴⁷ NCBI Bookshelf

⁴⁸ NCI

⁴⁹ NCIt

⁵⁰ NDF-RT

⁵¹ NIH Clinical Center

⁵² NINDS

⁵³ Novoseek

⁵⁴ Novus Biologicals

⁵⁵ ODiseA

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubChem

⁶² PubMed

⁶³ PubMed Health

⁶⁴ QIAGEN

⁶⁵ R&D Systems

⁶⁶ Reactome

⁶⁷ Sino Biological

⁶⁸ SNOMED-CT

⁶⁹ SNOMED-CT via HPO

⁷⁰ Tocris

⁷¹ UMLS

⁷² UMLS via Orphanet

⁷³ UniProtKB/Swiss-Prot

⁷⁴ WikiPathways

⁷⁵ Wikipedia

LATHOS MCID: LTH002 MIFTS: 40	Lathosterolosis (LATHOS) Categories: Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
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