MCID: LPD011
MIFTS: 41

Lipoid Adrenal Hyperplasia malady

Genetic diseases (common), Endocrine diseases categories

Aliases & Classifications for Lipoid Adrenal Hyperplasia

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Sources:
45OMIM, 10diseasecard, 43Novoseek, 60UMLS
See all sources

Lipoid Adrenal Hyperplasia, Aliases & Descriptions:

Name: Lipoid Adrenal Hyperplasia 45 10
 
Lipoid Congenital Adrenal Hyperplasia 45 43 60


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Genetic diseases (common)
Anatomical: Endocrine diseases


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OMIM45 201710

Summaries for Lipoid Adrenal Hyperplasia

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OMIM:45 Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect... (201710) more...

MalaCards based summary: Lipoid Adrenal Hyperplasia, also known as lipoid congenital adrenal hyperplasia, is related to congenital adrenal hyperplasia and classic congenital lipoid adrenal hyperplasia due to star deficency, and has symptoms including autosomal recessive inheritance, hypospadias and renal salt wasting. An important gene associated with Lipoid Adrenal Hyperplasia is STAR (steroidogenic acute regulatory protein), and among its related pathways are Ovarian steroidogenesis and Cholesterol and Sphingolipids transport Distribution to the intracellular membrane compartments normal and CF . The compounds monobutyl phthalate and di-n-butyl phthalate have been mentioned in the context of this disorder. Affiliated tissues include testes.

Related Diseases for Lipoid Adrenal Hyperplasia

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Diseases related to Lipoid Adrenal Hyperplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 48)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia30.9CYP11A1, POMC, STAR, NR0B1
2classic congenital lipoid adrenal hyperplasia due to star deficency10.5
3non-classic congenital lipoid adrenal hyperplasia due to star deficency10.5
4ovarian disease10.5STAR
5x-linked adrenal hypoplasia congenita10.5NR0B1
6gestational trophoblastic neoplasm10.4NR0B1
7ovarian cyst10.4
8cholestasis10.3
9familial glucocorticoid deficiency10.3
10adrenal hypoplasia, congenital, with hypogonadotropic hypogonadism10.3NR0B1, STAR
11premature ovarian failure10.3CYP11A1, STAR
12abrikosov's tumor10.3CYP11A1, STAR
13anemia, sideroblastic, pyridoxine-refractory, autosomal recessive10.3STAR, NR0B1
14adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete10.3
15adrenal carcinoma10.3POMC
16adrenocortical carcinoma10.3POMC
17endodermal sinus tumor10.2CGB5, ALPPL2
18kallmann syndrome10.2NR0B1, CGB5
19cryptorchidism10.2CGB5, ALPPL2
20teratoma10.2ALPPL2, CGB5
21testicular cancer10.1ALPPL2, CGB5
22adrenoleukodystrophy10.1NR0B1, SCP2
23polycystic ovary syndrome10.1CYP11A1, STAR, CGB5
24conn's syndrome10.1CYP11A1, POMC
25adrenal adenoma10.1POMC, CYP11A1
26azoospermia10.1CGB5, NR0B1
27ovarian cancer, somatic10.0NR0B1, ALPPL2, STAR
28skin disease10.0POMC, ALPPL2
29congenital adrenal insufficiency10.0CYP11A1, FDXR, FDX1, STAR
30hyperthyroidism10.0ALPPL2, CGB5
31hyperprolactinemia10.0POMC, CGB5
32cholera10.0STAR, POMC, CYP11A1
33cushing's syndrome9.9CYP11A1, POMC, NR0B1
34panic disorder9.9TSPO, POMC
35primary hyperoxaluria9.9ALPPL2, POMC
36seminoma9.9CGB5, ALPPL2
37tuberculosis9.9CYP11A1, FDXR, POMC
38hyperandrogenism9.9CGB5, POMC, CYP11A1
39precocious puberty9.9CGB5, NR0B1, POMC
40hypogonadism9.9CGB5, NR0B1, POMC
41prostate cancer9.9CYP11A1, TSPO, ALPPL2, NR0B1
42brain disease9.8TSPO, POMC
43addison's disease9.8CYP11A1, POMC, STAR, NR0B1
44adrenal cortical adenoma9.8NR0B1, STAR, POMC, CYP11A1
45obesity9.8NR0B1, STAR, POMC, CYP11A1
46choriocarcinoma9.8CYP11A1, FDX1, STAR, ALPPL2, CGB5
47adenoma9.7CYP11A1, POMC, TSPO, NR0B1
48leydig cell tumor9.3CGB5, NR0B1, STAR, TSPO, POMC, CYP11A1

Graphical network of the top 20 diseases related to Lipoid Adrenal Hyperplasia:



Diseases related to lipoid adrenal hyperplasia

Symptoms for Lipoid Adrenal Hyperplasia

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Symptoms by clinical synopsis from OMIM:

201710

Clinical features from OMIM:

201710

HPO human phenotypes related to Lipoid Adrenal Hyperplasia:

id Description Frequency HPO Source Accession
1 autosomal recessive inheritance HP:0000007
2 hypospadias HP:0000047
3 renal salt wasting HP:0000127
4 adrenogenital syndrome HP:0000840

Drugs & Therapeutics for Lipoid Adrenal Hyperplasia

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Drug clinical trials:

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Search NIH Clinical Center for Lipoid Adrenal Hyperplasia

Genetic Tests for Lipoid Adrenal Hyperplasia

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Anatomical Context for Lipoid Adrenal Hyperplasia

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MalaCards organs/tissues related to Lipoid Adrenal Hyperplasia:

31
Testes

Animal Models for Lipoid Adrenal Hyperplasia or affiliated genes

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Publications for Lipoid Adrenal Hyperplasia

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Articles related to Lipoid Adrenal Hyperplasia:

(show top 50)    (show all 66)
idTitleAuthorsYear
1
Phenotypic variability in congenital lipoid adrenal hyperplasia. (24953586)
2014
2
Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia. (23175692)
2013
3
p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia. (24904850)
2013
4
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. (21159840)
2011
5
Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. (21647419)
2011
6
High allele frequency of the p.Q258X mutation and identification of a novel mis-splicing mutation in the STAR gene in Korean patients with congenital lipoid adrenal hyperplasia. (21846663)
2011
7
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene. (20080861)
2010
8
A Novel Mutation of the Steroidogenic Acute Regulatory Protein (StAR) Gene in a Japanese Patient with Congenital Lipoid Adrenal Hyperplasia. (24790358)
2008
9
Role of a founder c.201_202delCT mutation and new phenotypic features of congenital lipoid adrenal hyperplasia in Palestinians. (17666473)
2007
10
Nonclassic congenital lipoid adrenal hyperplasia: a new disorder of the steroidogenic acute regulatory protein with very late presentation and normal male genitalia. (16968793)
2006
11
Ovarian insufficiency in congenital lipoid adrenal hyperplasia begins in infancy. (16607929)
2006
12
Imaging of congenital lipoid adrenal hyperplasia. (16875310)
2006
13
Adrenal and ovarian hormonogenesis in a teenage girl with congenital lipoid adrenal hyperplasia (CLAH). (15506684)
2004
14
Congenital lipoid adrenal hyperplasia caused by a novel splicing mutation in the gene for the steroidogenic acute regulatory protein. (14764819)
2004
15
Molecular genetic analysis of congenital lipoid adrenal hyperplasia]. (15347444)
2004
16
Family of two patients with congenital lipoid adrenal hyperplasia due to StAR mutation. (15666846)
2004
17
Congenital lipoid adrenal hyperplasia]. (14968544)
2004
18
Molecular pathogenesis of lipoid adrenal hyperplasia and adrenal hypoplasia congenita. (12943739)
2003
19
Mechanism for the development of ovarian cysts in patients with congenital lipoid adrenal hyperplasia. (10700722)
2000
20
A novel compound heterozygous mutation in the steroidogenic acute regulatory protein gene in a patient with congenital lipoid adrenal hyperplasia. (10566637)
1999
21
Congenital lipoid adrenal hyperplasia. (10460667)
1999
22
Gonadal histology with testicular carcinoma in situ in a 15-year-old 46,XY female patient with a premature termination in the steroidogenic acute regulatory protein causing congenital lipoid adrenal hyperplasia. (10323391)
1999
23
A novel frameshift mutation 840delA and a novel polymorphism D203A in the steroidogenic acute regulatory protein gene in a Japanese patient with congenital lipoid adrenal hyperplasia. (9452116)
1998
24
Incorrect folding of steroidogenic acute regulatory protein (StAR) in congenital lipoid adrenal hyperplasia. (9657690)
1998
25
Targeted disruption of the mouse gene encoding steroidogenic acute regulatory protein provides insights into congenital lipoid adrenal hyperplasia. (9326645)
1997
26
Analysis of the steroidogenic acute regulatory protein (StAR) gene in Japanese patients with congenital lipoid adrenal hyperplasia. (9097960)
1997
27
Homozygous Q258X mutation in the steroidogenic acute regulatory gene in a Japanese patient with congenital lipoid adrenal hyperplasia. (9279522)
1997
28
Spontaneous puberty in 46,XX subjects with congenital lipoid adrenal hyperplasia. Ovarian steroidogenesis is spared to some extent despite inactivating mutations in the steroidogenic acute regulatory protein (StAR) gene. (9077535)
1997
29
Congenital lipoid adrenal hyperplasia: the human gene knockout for the steroidogenic acute regulatory protein. (9460644)
1997
30
Testicular histopathology in congenital lipoid adrenal hyperplasia: a light and electron microscopic study. (9050951)
1997
31
Spontaneous feminization in a 46,XX female patient with congenital lipoid adrenal hyperplasia due to a homozygous frameshift mutation in the steroidogenic acute regulatory protein. (9141542)
1997
32
The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. (8948562)
1996
33
P450scc deficiency (congenital lipoid adrenal hyperplasia): first reported case in Thailand and literature review. (8855637)
1996
34
Prenatal diagnosis of congenital lipoid adrenal hyperplasia. (7829612)
1995
35
T-->A transversion 11 bp from a splice acceptor site in the human gene for steroidogenic acute regulatory protein causes congenital lipoid adrenal hyperplasia. (8634702)
1995
36
No mutation in cytochrome P450 side chain cleavage in a patient with congenital lipoid adrenal hyperplasia. (7962293)
1994
37
Congenital lipoid adrenal hyperplasia--genes for P450scc, side chain cleavage enzyme, are normal. (8481356)
1993
38
Prenatal diagnosis of congenital lipoid adrenal hyperplasia. (8469492)
1993
39
The human peripheral benzodiazepine receptor gene: cloning and characterization of alternative splicing in normal tissues and in a patient with congenital lipoid adrenal hyperplasia. (8307574)
1993
40
Gonadal development and growth in 46,XX and 46,XY individuals with P450scc deficiency (congenital lipoid adrenal hyperplasia). (1668380)
1991
41
The testicular lesion and sexual differentiation in congenital lipoid adrenal hyperplasia. (2501238)
1989
42
Computed tomography in the early detection of congenital lipoid adrenal hyperplasia. (3387163)
1988
43
Study of cholesterol side-chain cleavage (20,22 desmolase) deficiency causing congenital lipoid adrenal hyperplasia using bovine-sequence P450scc oligodeoxyribonucleotide probes. (2419119)
1986
44
Adrenal insufficiency possibly due to lipoid adrenal hyperplasia: a case report. (2409904)
1985
45
Genetics and pathology of hereditary adrenal hyperplasia in the rabbit: a model for congenital lipoid adrenal hyperplasia. (731013)
1978
46
Cholesterol side-chain cleavage enzyme activity and cytochrome P-450 content in adrenal mitochondria of a patient with congenital lipoid adrenal hyperplasia (Prader disease). (872430)
1977
47
Effects of 25-hydroxycholesterol and aminoglutethimide in isolated rat adrenal cells. A model for congenital lipoid adrenal hyperplasia? (174962)
1976
48
Evidence for deficient 20 -cholesterol-hydroxylase activity in adrenal tissue of a patient with lipoid adrenal hyperplasia. (4678198)
1972
49
Experimental congenital lipoid adrenal hyperplasia: prevention of anatomic defects produced by aminoglutethimide. (5529931)
1970
50
LIPOID ADRENAL HYPERPLASIA. (14225142)
1964

Variations for Lipoid Adrenal Hyperplasia

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UniProtKB/Swiss-Prot genetic disease variations for Lipoid Adrenal Hyperplasia:

62
id Symbol AA change Variation ID SNP ID
1STARp.Arg182LeuVAR_005627
2STARp.Glu169GlyVAR_014236
3STARp.Glu169LysVAR_014237
4STARp.Arg217ThrVAR_014238rs28938471
5STARp.Ala218ValVAR_014239
6STARp.Met225ThrVAR_014240
7STARp.Leu275ProVAR_014242

Clinvar genetic disease variations for Lipoid Adrenal Hyperplasia:

6 (show all 15)
id Gene Variation Type Significance SNP ID Assembly Location
1STARNM_000349.2(STAR): c.577C> T (p.Arg193Ter)single nucleotide variantPathogenicrs387907235GRCh37Chr 8, 38003554: 38003554
2STARNM_000349.2(STAR): c.135delT (p.Ser46Alafs)deletionLikely pathogenicrs193922393GRCh37Chr 8, 38006202: 38006202
3STARSTAR, IVS4AS, T-A, -11single nucleotide variantPathogenic
4STARNM_000349.2(STAR): c.772C> T (p.Gln258Ter)single nucleotide variantPathogenicrs104894085GRCh37Chr 8, 38001877: 38001877
5STARNM_000349.2(STAR): c.545G> T (p.Arg182Leu)single nucleotide variantPathogenicrs104894086GRCh37Chr 8, 38003586: 38003586
6STARSTAR, 1-BP DEL, 261TdeletionPathogenic
7STARSTAR, IVS2, 1-BP INS, T, +3insertionPathogenic
8STARNM_000349.2(STAR): c.749G> A (p.Trp250Ter)single nucleotide variantPathogenicrs104894087GRCh37Chr 8, 38001900: 38001900
9STARNM_000349.2(STAR): c.650G> C (p.Arg217Thr)single nucleotide variantPathogenicrs137852689GRCh37Chr 8, 38003481: 38003481
10STARNM_000349.2(STAR): c.653C> T (p.Ala218Val)single nucleotide variantPathogenicrs137852690GRCh37Chr 8, 38002831: 38002831
11STARSTAR, IVS1, G-T, +1single nucleotide variantPathogenic
12STARNM_000349.2(STAR): c.545G> A (p.Arg182His)single nucleotide variantPathogenicrs104894086GRCh37Chr 8, 38003586: 38003586
13STARNM_000349.2(STAR): c.559G> A (p.Val187Met)single nucleotide variantPathogenicrs104894089GRCh37Chr 8, 38003572: 38003572
14STARNM_000349.2(STAR): c.562C> T (p.Arg188Cys)single nucleotide variantPathogenicrs104894090GRCh37Chr 8, 38003569: 38003569
15STARSTAR, 2-BP DEL, 201CTdeletionPathogenic

Expression for genes affiliated with Lipoid Adrenal Hyperplasia

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Search GEO for disease gene expression data for Lipoid Adrenal Hyperplasia.

Pathways for genes affiliated with Lipoid Adrenal Hyperplasia

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Pathways related to Lipoid Adrenal Hyperplasia according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.9STAR, CYP11A1
2
Show member pathways
9.7TSPO, SCP2
39.4CYP11A1, TSPO, STAR
49.4CYP11A1, POMC, STAR
5
Show member pathways
9.4STAR, POMC, CYP11A1
6
Show member pathways
9.4STAR, POMC, CYP11A1
7
Show member pathways
9.1FDX1, FDXR
8
Show member pathways
7.1CYP11A1, SCP2, FDXR, FDX1, POMC, STAR

Compounds for genes affiliated with Lipoid Adrenal Hyperplasia

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Compounds related to Lipoid Adrenal Hyperplasia according to GeneCards Suite gene sharing:

(show top 50)    (show all 85)
idCompoundScoreTop Affiliating Genes
1monobutyl phthalate4310.2STAR, CYP11A1
2di-n-butyl phthalate4310.2CYP11A1, STAR
327-hydroxycholesterol43 2811.1CYP11A1, STAR
47-dehydrocholesterol43 2411.0SCP2, CYP11A1
5acth 1-244310.0CYP11A1, POMC
6benzodiazepine439.8STAR, TSPO
7dihydroprogesterone439.7CYP11A1, CGB5
817-hydroxypregnenolone439.7POMC, CGB5
9allopregnanolone439.7TSPO, POMC
10prostaglandin f2alpha439.7CGB5, CYP11A1, STAR
118-bromo-cyclic amp439.7CGB5, STAR
12dbc-amp439.6STAR, CYP11A1, CGB5
13aminoglutethimide43 1210.6CGB5, POMC, CYP11A1
1417-hydroxyprogesterone43 2410.6POMC, CGB5, CYP11A1
1511beta-hydroxysteroid439.5CYP11A1, POMC, CGB5
16dehydroepiandrosterone sulfate439.5CYP11A1, POMC, CGB5
1718-hydroxycorticosterone43 2410.5POMC, FDX1
18mitotane43 49 1211.5FDX1, POMC
19putidaredoxin439.5FDX1, FDXR
20naloxone43 28 49 1212.4CGB5, POMC, TSPO
2117beta-hydroxysteroid439.4CGB5, STAR, SCP2, CYP11A1
22dhea439.3STAR, CYP11A1, POMC, CGB5
23androstenedione43 2410.3CGB5, STAR, POMC, CYP11A1
24ribonucleic acid439.2STAR, CGB5, POMC, CYP11A1
25phosphatidylcholine439.2CYP11A1, SCP2, STAR
2625-hydroxyvitamin d439.2FDX1, CYP11A1, FDXR
27estradiol43 24 1211.2CYP11A1, CGB5, STAR, POMC
28glycerol43 24 1211.2NR0B1, TSPO, POMC
29adenylate439.1STAR, CYP11A1, POMC, CGB5
30phospholipid439.0FDX1, CYP11A1, STAR, SCP2
31gnrh439.0CGB5, CYP11A1, POMC, STAR, NR0B1
32doca438.8POMC, FDXR, FDX1, CYP11A1
33cyclic amp43 249.8ALPPL2, STAR, CYP11A1, CGB5, NR0B1
34sterol438.6SCP2, FDX1, STAR, FDXR, CYP11A1
35superoxide43 249.6CGB5, FDX1, CYP11A1, FDXR
3622r-hydroxycholesterol43 289.5CYP11A1, FDX1, TSPO, STAR, CGB5
373beta-hydroxysteroid438.5CGB5, POMC, FDX1, CYP11A1, STAR
38forskolin43 49 1210.5STAR, POMC, FDX1, CYP11A1, CGB5
39cycloheximide438.4CGB5, STAR, FDX1, CYP11A1, POMC
40lipid438.3FDX1, CGB5, STAR, CYP11A1, SCP2
41oxygen43 249.3FDX1, FDXR, CYP11A1, CGB5, STAR
42cholesterol43 28 24 1211.2NR0B1, CYP11A1, SCP2, STAR, FDX1, FDXR
43dexamethasone43 49 28 1211.1FDX1, CYP11A1, STAR, CGB5, NR0B1, POMC
44corticosterone43 59 2410.1STAR, TSPO, POMC, FDX1, CYP11A1, CGB5
45estrogen438.0NR0B1, STAR, TSPO, POMC, FDXR, CYP11A1
46progestin438.0FDX1, FDXR, CYP11A1, STAR, CGB5, POMC
47acth437.6STAR, POMC, CGB5, NR0B1, FDX1, FDXR
48progesterone43 28 59 24 1211.6CYP11A1, CGB5, FDX1, POMC, STAR, NR0B1
49testosterone43 59 24 129.9POMC, CYP11A1, SCP2, FDXR, FDX1, TSPO
50steroid436.9NR0B1, TSPO, POMC, STAR, FDX1, FDXR

GO Terms for genes affiliated with Lipoid Adrenal Hyperplasia

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Cellular components related to Lipoid Adrenal Hyperplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1mitochondrial cristaGO:00300619.9STAR, CYP11A1
2peroxisomal matrixGO:00057829.6POMC, SCP2
3mitochondrial matrixGO:00057598.5FDX1, FDXR, CYP11A1
4mitochondrionGO:00057397.9CYP11A1, SCP2, FDXR, FDX1, TSPO

Biological processes related to Lipoid Adrenal Hyperplasia according to GeneCards Suite gene sharing:

(show all 30)
idNameGO IDScoreTop Affiliating Genes
1fractalkine metabolic processGO:005075610.2STAR, CYP11A1
2response to fungicideGO:006099210.2CYP11A1, STAR
3dibenzo-p-dioxin metabolic processGO:001889410.2CYP11A1, STAR
4biphenyl metabolic processGO:001887910.2CYP11A1, STAR
5testosterone biosynthetic processGO:006137010.2CYP11A1, STAR
6phthalate metabolic processGO:001896310.2CYP11A1, STAR
7phenol-containing compound metabolic processGO:001895810.2CYP11A1, STAR
8C21-steroid hormone biosynthetic processGO:000670010.2STAR, CYP11A1
9cellular response to follicle-stimulating hormone stimulusGO:007137210.2CYP11A1, STAR
10estrogen biosynthetic processGO:000670310.1STAR, CYP11A1
11cellular response to antibioticGO:007123610.1STAR, CYP11A1
12cellular response to cadmium ionGO:007127610.1CYP11A1, STAR
13Leydig cell differentiationGO:003332710.1NR0B1, CYP11A1
14cellular response to fibroblast growth factor stimulusGO:004434410.1STAR, CYP11A1
15regulation of steroid biosynthetic processGO:005081010.1TSPO, STAR
16response to corticosteroneGO:005141210.1CYP11A1, STAR
17bile acid biosynthetic processGO:000669910.0STAR, SCP2
18cellular response to transforming growth factor beta stimulusGO:00715609.9STAR, CYP11A1
19adrenal gland developmentGO:00303259.9NR0B1, TSPO
20progesterone biosynthetic processGO:00067019.9STAR, SCP2, CYP11A1
21response to hydrogen peroxideGO:00425429.9CYP11A1, STAR
22steroid metabolic processGO:00082029.8CYP11A1, TSPO, STAR
23cellular response to lipopolysaccharideGO:00712229.8STAR, TSPO, CYP11A1
24negative regulation of tumor necrosis factor productionGO:00327209.7POMC, TSPO
25cellular response to cAMPGO:00713209.6STAR, CYP11A1
26generation of precursor metabolites and energyGO:00060919.5POMC, FDXR
27response to drugGO:00424939.3STAR, TSPO, CYP11A1
28cholesterol metabolic processGO:00082038.9CYP11A1, FDXR, FDX1, STAR
29small molecule metabolic processGO:00442818.4STAR, FDX1, FDXR, SCP2, CYP11A1
30steroid biosynthetic processGO:00066948.1NR0B1, SCP2, FDXR, FDX1, TSPO, STAR

Molecular functions related to Lipoid Adrenal Hyperplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1cholesterol bindingGO:00154859.1STAR, TSPO, SCP2, CYP11A1

Products for genes affiliated with Lipoid Adrenal Hyperplasia

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Sources for Lipoid Adrenal Hyperplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet