MCID: LPD011
MIFTS: 44

Lipoid Adrenal Hyperplasia malady

Categories: Genetic diseases (common), Endocrine diseases

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

Characteristics:

HPO:

61
lipoid adrenal hyperplasia:
Inheritance: autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 201710
MedGen34 C0342474
MeSH36 D000312
UMLS65 C0342474

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 acute myocarditis and classic congenital lipoid adrenal hyperplasia due to star deficency, and has symptoms including congenital adrenal hyperplasia, adrenogenital syndrome 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). Affiliated tissues include cortex, adrenal cortex and heart, and related mouse phenotypes are reproductive system and behavior/neurological.

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

(show top 50)    (show all 95)
idRelated DiseaseScoreTop Affiliating Genes
1acute myocarditis29.7CYP11A1, NR5A1, POMC, STAR
2classic congenital lipoid adrenal hyperplasia due to star deficency12.6
3non-classic congenital lipoid adrenal hyperplasia due to star deficency12.6
4congenital adrenal hyperplasia11.9
5acth-independent macronodular adrenal hyperplasia11.8
6adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency11.6
7adrenal insufficiency, congenital, with 46xy sex reversal, partial or complete10.8
8leukemia10.4
9spondylocostal dysostosis-anal and genitourinary malformations syndrome10.3CYP11A1, POMC
10breast cancer10.3
11hepatitis10.3
12rabies10.3
13orbital granuloma10.3CYP11A1, POMC
14familial hypersecretion of adrenal androgens10.3POMC, STAR
15c1 inhibitor deficiency10.2POMC, TSPO
16chronic conjunctivitis10.2POMC, TSPO
17wernicke-korsakoff syndrome10.2POMC, TSPO
18sympathetic ophthalmia10.2CYP11A1, POMC
19central nervous system germ cell tumor10.1ALPPL2, POMC
20dcx-related disorders10.1POMC, POR
21breast hemangioma10.1CYP11A1, POMC, STAR
22richter's syndrome10.1CYP11A1, POMC, STAR
23seminoma10.1ALPPL2, POMC
24ethmoid sinus inverted papilloma10.1CYP11A1, POMC
25insulin-like growth factor i10.1
26adenine phosphoribosyltransferase deficiency10.1
27hypertrophic scars10.1
28adult t-cell leukemia10.1
29chronic lymphocytic leukemia10.1
30crohn's disease10.1
31gastric cancer10.1
32keloids10.1
33myasthenia gravis10.1
34osteoarthritis10.1
35retinitis pigmentosa10.1
36thrombocytopenia10.1
37familial hemiplegic migraine10.1
38gallbladder disease10.1
39sleeping sickness10.1
40sarcoma10.1
41typhus10.1
42nephrotic syndrome10.1
43pancytopenia10.1
44von willebrand's disease10.1
45dementia10.1
46scrub typhus10.1
47prostatitis10.1
48endogenous depression10.1
49vaginitis10.1
50ovarian cancer10.1

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 congenital adrenal hyperplasia HP:0008258
2 adrenogenital syndrome HP:0000840
3 renal salt wasting HP:0000127
4 hypospadias HP:0000047

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, Heart, Breast, Brain, Skeletal muscle, Prefrontal cortex

Animal Models for Lipoid Adrenal Hyperplasia or affiliated genes

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MGI Mouse Phenotypes related to Lipoid Adrenal Hyperplasia:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053898.4ALPPL2, CYP11A1, NR5A1, POR, STAR, TSPO
2MP:00053868.1CYP11A1, FDXR, NR5A1, POMC, POR, SCP2
3MP:00053787.4ALPPL2, CYP11A1, NR5A1, POMC, POR, SCP2
4MP:00107687.2ALPPL2, CYP11A1, FDX1, NR5A1, POMC, POR

Publications for Lipoid Adrenal Hyperplasia

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Articles related to Lipoid Adrenal Hyperplasia:

(show top 50)    (show all 69)
idTitleAuthorsYear
1
Infiltrating Lipoma of the Right Ventricle Involving the Interventricular Septum and Tricuspid Valve: Report of a Rare Case and Literature Review. (26817909)
2016
2
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness. (26022370)
2015
3
Terlipressin and albumin for type 1 hepatorenal syndrome: does bacterial infection affect the response? (26722626)
2015
4
Initiation and Generalization of Self-Instructional Skills in Adolescents with Autism and Intellectual Disability. (26572658)
2015
5
Testosterone and high-sensitive C-reactive protein in coronary artery disease patients awaiting coronary artery bypass graft. (24811768)
2015
6
Lipedematous scalp. (24823416)
2014
7
Central retinal vein occlusion as a presenting feature in a young patient with protein S deficiency. (25331213)
2014
8
Association analyses identify three susceptibility Loci for vitiligo in the Chinese Han population. (22951725)
2013
9
NPC1 defect results in abnormal platelet formation and function: studies in Niemann-Pick disease type C1 patients and zebrafish. (23010472)
2013
10
Clinical significance of treatment delay in status epilepticus. (23445821)
2013
11
Copeptin, procalcitonin and routine inflammatory markers-predictors of infection after stroke. (23118979)
2012
12
Results of a pivotal phase II study of brentuximab vedotin for patients with relapsed or refractory Hodgkin's lymphoma. (22454421)
2012
13
Expression of the two pore domain potassium channel TREK-1 in human intervertebral disc cells. (22563662)
2012
14
Compound heterozygosity for 2 novel TMEM16F mutations in a patient with Scott syndrome. (21511967)
2011
15
Structural disorder in the HIV-1 Vif protein and interaction-dependent gain of structure. (20450485)
2010
16
Cis and trans actions of the cholinesterase-like domain within the thyroglobulin dimer. (20353937)
2010
17
Misoprostol preferable to ethacridine lactate for abortions at 13-20 weeks of pregnancy: Cuban experience. (18772100)
2008
18
Identification of a novel N-terminal hydrophobic sequence that targets proteins to lipid droplets. (18477614)
2008
19
G0S2 is an all-trans-retinoic acid target gene. (18636162)
2008
20
Syncope and QT prolongation among patients treated with methadone for heroin dependence in the city of Copenhagen. (17344330)
2007
21
Antidiabetic medications in overweight/obese patients with type 2 diabetes: drawbacks of current drugs and potential advantages of incretin-based treatment on body weight. (17593274)
2007
22
Tumor growth fraction, expression of estrogen and progesterone receptors, p53, bcl-2 and cathepsin D activity in primary ductal invasive breast carcinoma and their axillary lymph node metastases. (18217456)
2007
23
Transiently positive anticardiolipin antibodies and risk of thrombosis in patients with systemic lupus erythematosus. (17895304)
2007
24
Hyponatremia: current treatment strategies and the role of vasopressin antagonists. (17405824)
2007
25
Detection and clinical significance of urinary epidermal growth factor in brain tumor patients]. (16706130)
2006
26
Functional diversity of lysyl hydroxylase 2 in collagen synthesis of human dermal fibroblasts. (16934803)
2006
27
Osteochondroma of the sacrum: a case report and review of the literature. (16741444)
2006
28
The transcriptional corepressor, PELP1, recruits HDAC2 and masks histones using two separate domains. (15456770)
2004
29
Suppression of plasma free fatty acids upregulates peroxisome proliferator-activated receptor (PPAR) alpha and delta and PPAR coactivator 1alpha in human skeletal muscle, but not lipid regulatory genes. (15525607)
2004
30
Radiofrequency catheter ablation of a posteroseptal accessory pathway along the morphologic tricuspid valve in a patient with congenitally corrected transposition of the great arteries and complete atrioventricular block. (15014219)
2004
31
Mitral valve prolapse associated with celiac artery stenosis: a new ultrasonographic syndrome? (15588321)
2004
32
Transforming growth factor-beta-1 genetic polymorphism in Japanese patients with chronic hepatitis C virus infection. (12974899)
2003
33
Synthesis of conformationally restricted analogs of baclofen, a potent GABAB receptor agonist, by the introduction of a cyclopropane ring. (10478475)
1999
34
Interleukin-8 and monocyte chemotactic protein-1 production by a human glioblastoma cell line, T98G in coculture with monocytes: involvement of monocyte-derived interleukin-1alpha. (9613677)
1998
35
The effect of neurotensin and adrenaline on sinus arrhythmia during firing stimulation of the vagus nerve]. (9264693)
1997
36
The apoB-100 gene EcoRI polymorphism influences the relationship between features of the insulin resistance syndrome and the hyper-apoB and dense LDL phenotype in men. (8826978)
1996
37
Ketanserin analogues: the effect of structural modification on 5-HT2 serotonin receptor binding. (7707322)
1995
38
A hospital survey of hypocalcemia and hypophosphatemia in malignancy. (1746050)
1991
39
Peroperative localization of insuloma using staged portal vein insulin assay. Apropos of a case]. (2068888)
1991
40
Complete nucleotide sequence of the human RCC1 gene involved in coupling between DNA replication and mitosis. (1769659)
1991
41
Tumour cells which develop resistance to cytolysis by tumour necrosis factor have a different glycoform of a 105-kDa glycoprotein and lose the capacity to invade and metastasize. (2153637)
1990
42
Changes in plasma granulocyte elastase, myeloperoxidase and fibronectin during and after open heart surgery]. (2157904)
1990
43
Autoantibody-associated kappa light chain variable region gene expressed in chronic lymphocytic leukemia with little or no somatic mutation. Implications for etiology and immunotherapy. (3127527)
1988
44
An unusual case of hypersensitivity vasculitis probably due to allopurinol. (6954286)
1982
45
Spontaneous restitution ad integrum of a fractured enchondroma in a finger. (7287054)
1981
46
Haematological studies on domestic animals in Nigeria. II. The blood picture of German Brown Swiss and Holstein calves naturally exposed to helminthiasis. (6775465)
1980
47
Experimental studies on the pathogenesis of kernicterus. (13484304)
1957
48
The afferent-loop syndrome: bilious regurgitation after subtotal gastrectomy and its relief. (13001175)
1952
49
50

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 pathwaysScoreTop Affiliating Genes
19.9CYP11A1, STAR
2
Show member pathways
9.8SCP2, TSPO
39.5CYP11A1, POMC, STAR
49.3FDX1, FDXR
5
Show member pathways
8.6CYP11A1, FDX1, FDXR, POMC
6
Show member pathways
8.3CYP11A1, FDX1, FDXR, POMC, STAR
7
Show member pathways
8.2CYP11A1, FDX1, FDXR, POMC, POR
8
Show member pathways
8.2CYP11A1, FDX1, FDXR, POMC, POR
9
Show member pathways
6.7ALPPL2, CYP11A1, FDX1, FDXR, POMC, POR

GO Terms for genes affiliated with Lipoid Adrenal Hyperplasia

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

(show all 9)
idNameGO IDScoreTop Affiliating Genes
1C21-steroid hormone biosynthetic processGO:000670010.5CYP11A1, STAR
2cellular response to follicle-stimulating hormone stimulusGO:007137210.2POR, STAR
3peptide hormone processingGO:001648610.0CGB5, POMC
4regulation of steroid biosynthetic processGO:00508109.9NR5A1, STAR, TSPO
5cholesterol metabolic processGO:00082039.9CYP11A1, FDXR, STAR
6steroid metabolic processGO:00082029.8STAR, TSPO
7sterol metabolic processGO:00161259.3CYP11A1, FDX1, FDXR
8steroid biosynthetic processGO:00066949.1FDXR, SCP2, STAR, TSPO
9small molecule metabolic processGO:00442818.6FDX1, FDXR, SCP2, STAR

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