MCID: LPD011
MIFTS: 42

Lipoid Adrenal Hyperplasia malady

Genetic diseases, Endocrine diseases, Reproductive diseases, Fetal diseases, Rare diseases categories

Aliases & Classifications for Lipoid Adrenal Hyperplasia

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Aliases & Descriptions for Lipoid Adrenal Hyperplasia:

Name: Lipoid Adrenal Hyperplasia 49 11
Lipoid Congenital Adrenal Hyperplasia 47 65
Congenital Lipoid Hyperplasia of Adrenal Cortex with Male Pseudohermaphroditism 67
Congenital Lipoid Adrenal Hyperplasia 67
 
Adrenal Hyperplasia 1 67
Lipoid Cah 67
Ah1 67


Classifications:



External Ids:

OMIM49 201710
MedGen34 C0342474
MeSH36 D000312

Summaries for Lipoid Adrenal Hyperplasia

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UniProtKB/Swiss-Prot:67 Adrenal hyperplasia 1: The most severe form of adrenal hyperplasia. It is a condition characterized by onset of profound adrenocortical insufficiency shortly after birth, hyperpigmentation reflecting increased production of pro-opiomelanocortin, elevated plasma renin activity as a consequence of reduced aldosterone synthesis, and male pseudohermaphroditism resulting from deficient fetal testicular testosterone synthesis. Affected individuals are phenotypic females irrespective of gonadal sex, and frequently die in infancy if mineralocorticoid and glucocorticoid replacement are not instituted.

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 Cholesterol and Sphingolipids transport / Distribution to the intracellular membrane compartments (normal and CF) and Corticotropin-releasing hormone. Affiliated tissues include cortex, adrenal cortex and testes.

OMIM:49 Lipoid congenital adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect... (201710) more...

Related Diseases for Lipoid Adrenal Hyperplasia

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Diseases in the Lipoid Adrenal Hyperplasia family:

Congenital Lipoid Adrenal Hyperplasia Due to Star Deficency

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

(show all 45)
idRelated DiseaseScoreTop Affiliating Genes
1congenital adrenal hyperplasia10.7
2classic congenital lipoid adrenal hyperplasia due to star deficency10.5
3non-classic congenital lipoid adrenal hyperplasia due to star deficency10.5
4congenital lipoid adrenal hyperplasia due to star deficency10.5
5adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete10.4
6ovarian cyst10.4
7cholestasis10.3
8familial glucocorticoid deficiency10.3
9adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency10.3
10acth-independent macronodular adrenal hyperplasia10.3
11cholesterol desmolase-deficient congenital adrenal hyperplasia10.3
12spondylocostal dysostosis - anal and genitourinary malformations10.2CYP11A1, POMC
13adrenal gland disease10.2CYP11A1, POMC
14lice infestation10.1CYP11A1, STAR
15familial hypersecretion of adrenal androgens10.1POMC, STAR
16hepatitis c virus10.1
17hepatitis10.1
18hepatitis c10.1
19central nervous system hereditary degenerative disease10.1ALPPL2, POMC
20retinal dystrophies primarily involving bruch's membrane10.1CYP11A1, POMC, STAR
21steroid-induced glaucoma10.1CYP11A1, POMC, STAR
22dcx-related disorders10.1POMC, POR
23conjugate gaze palsy10.1CYP11A1, POMC, STAR
24central nervous system germinoma10.1ALPPL2, POMC
25writing disorder10.1POMC, TSPO
26breast adenoid cystic carcinoma10.1CYP11A1, POMC
27pneumonic plague10.1ALPPL2, POMC
28adams-oliver syndrome 610.1CGB5, POMC
29ampulla of vater adenocarcinoma10.0POMC, TSPO
30x-linked congenital stationary night blindness10.0NR5A1, STAR
31yellow nail syndrome10.0POMC, POR
32vaccinia9.9NR5A1, TSPO
33adrenal cortex disease9.9CYP11A1, POMC
34toxic megacolon9.9NR5A1, POMC
35baritosis9.9ALPPL2, POMC
36choriocarcinoma of ovary9.9ALPPL2, CGB5, CYP11A1
37stuttering9.9CYP11A1, POMC, POR, STAR
38anorectal atresia9.9CGB5, NR5A1
39adrenal gland pheochromocytoma9.9CYP11A1, NR5A1, POMC
40jmp syndrome9.8CYP11A1, FDX1, FDXR, POMC, STAR
41merkel cell carcinoma9.8CYP11A1, NR5A1, POMC, STAR
42adult astrocytic tumour9.8CYP11A1, NR5A1, POMC, STAR
43bone mineral density, low9.7CYP11A1, NR5A1, POMC, TSPO
44leprechaunism9.7ALPPL2, CGB5, NR5A1
45lipoid adrenal hyperplasia8.5ALPPL2, CGB5, CYP11A1, FDX1, FDXR, NR5A1

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
5 congenital adrenal hyperplasia HP:0008258

Drugs & Therapeutics for Lipoid Adrenal Hyperplasia

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Interventional clinical trials:

Search ClinicalTrials, 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:

33
Cortex, Adrenal cortex, 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 68)
idTitleAuthorsYear
1
Clinical features and StAR gene mutations in children with congenital lipoid adrenal hyperplasia]. (26014698)
2015
2
Phenotypic variability in congenital lipoid adrenal hyperplasia. (24953586)
2014
3
Unique dominant negative mutation in the N-terminal mitochondrial targeting sequence of StAR, causing a variant form of congenital lipoid adrenal hyperplasia. (23175692)
2013
4
p.R182C mutation in Korean twin with congenital lipoid adrenal hyperplasia. (24904850)
2013
5
Partial defect in the cholesterol side-chain cleavage enzyme P450scc (CYP11A1) resembling nonclassic congenital lipoid adrenal hyperplasia. (21159840)
2011
6
Characterization of novel StAR (steroidogenic acute regulatory protein) mutations causing non-classic lipoid adrenal hyperplasia. (21647419)
2011
7
Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by molecular genetic testing in Korean siblings. (22028173)
2011
8
Congenital lipoid adrenal hyperplasia: functional characterization of three novel mutations in the STAR gene. (20080861)
2010
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
Normal genes for the cholesterol side chain cleavage enzyme, P450scc, in congenital lipoid adrenal hyperplasia. (1661294)
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:

67
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:

5 (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
1
Show member pathways
9.7SCP2, TSPO
29.5CYP11A1, POMC, STAR
39.5CYP11A1, STAR, TSPO
49.3FDX1, FDXR
5
Show member pathways
8.7CYP11A1, FDX1, FDXR, POMC
6
Show member pathways
8.7CYP11A1, FDX1, FDXR, POMC
7
Show member pathways
8.4CYP11A1, FDX1, FDXR, POMC, STAR
8
Show member pathways
8.2CYP11A1, FDX1, FDXR, POMC, POR

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:003006110.5CYP11A1, STAR
2peroxisomal matrixGO:000578210.2POMC, SCP2
3mitochondrionGO:00057397.5CYP11A1, FDX1, FDXR, POR, SCP2, STAR

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

(show all 41)
idNameGO IDScoreTop Affiliating Genes
1phenol-containing compound metabolic processGO:001895810.6CYP11A1, STAR
2testosterone biosynthetic processGO:006137010.6CYP11A1, STAR
3response to gonadotropinGO:003469810.6CYP11A1, STAR
4estrogen biosynthetic processGO:000670310.6CYP11A1, STAR
5phthalate metabolic processGO:001896310.5CYP11A1, STAR
6response to fungicideGO:006099210.5CYP11A1, STAR
7cellular response to transforming growth factor beta stimulusGO:007156010.4CYP11A1, STAR
8response to insecticideGO:001708510.4CYP11A1, STAR
9response to corticosteroneGO:005141210.4CYP11A1, STAR
10cellular response to antibioticGO:007123610.4CYP11A1, STAR
11response to steroid hormoneGO:004854510.4CYP11A1, STAR
12cellular response to cAMPGO:007132010.4CYP11A1, STAR
13dibenzo-p-dioxin metabolic processGO:001889410.4CYP11A1, STAR
14cellular response to cadmium ionGO:007127610.4CYP11A1, STAR
15biphenyl metabolic processGO:001887910.4CYP11A1, STAR
16response to antibioticGO:004667710.4CYP11A1, STAR
17organic acid metabolic processGO:000608210.3CYP11A1, STAR
18adrenal gland developmentGO:003032510.3NR5A1, TSPO
19bile acid biosynthetic processGO:000669910.3SCP2, STAR
20cellular response to peptide hormone stimulusGO:007137510.3CYP11A1, POR
21negative regulation of tumor necrosis factor productionGO:003272010.3POMC, TSPO
22progesterone biosynthetic processGO:000670110.2CYP11A1, SCP2, STAR
23peptide hormone processingGO:001648610.1CGB5, POMC
24cellular response to gonadotropin stimulusGO:007137110.1CYP11A1, POR, STAR
25cellular response to fibroblast growth factor stimulusGO:004434410.1CYP11A1, STAR
26cellular response to follicle-stimulating hormone stimulusGO:007137210.1CYP11A1, POR, STAR
27generation of precursor metabolites and energyGO:000609110.0FDXR, POMC
28response to nutrientGO:000758410.0CYP11A1, POR, STAR
29cellular response to lipopolysaccharideGO:007122210.0CYP11A1, STAR, TSPO
30response to ionizing radiationGO:00102129.9CYP11A1, STAR
31regulation of steroid biosynthetic processGO:00508109.8NR5A1, STAR, TSPO
32cell-cell signalingGO:00072679.8CGB5, NR5A1, POMC
33male gonad developmentGO:00085849.6CYP11A1, NR5A1, STAR
34xenobiotic metabolic processGO:00068059.4CYP11A1, FDX1, FDXR
35sterol metabolic processGO:00161259.4CYP11A1, FDX1, FDXR
36C21-steroid hormone biosynthetic processGO:00067009.3CYP11A1, FDX1, FDXR, STAR
37cholesterol metabolic processGO:00082039.1CYP11A1, FDX1, FDXR, STAR
38steroid biosynthetic processGO:00066949.1CYP11A1, FDXR, SCP2, STAR, TSPO
39response to drugGO:00424938.9CYP11A1, POR, STAR, TSPO
40steroid metabolic processGO:00082028.6CYP11A1, FDX1, FDXR, STAR, TSPO
41oxidation-reduction processGO:00551148.3CYP11A1, FDX1, FDXR, POR

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

idNameGO IDScoreTop Affiliating Genes
1oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygenGO:00167099.9CYP11A1, POR
2cholesterol bindingGO:00154859.5CYP11A1, SCP2, STAR, TSPO
3iron ion bindingGO:00055069.1CYP11A1, FDX1, POR

Sources for Lipoid Adrenal Hyperplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet