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Hello! Guest! Please Login or Register! Clinician Mode

Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Adrenal Insufficiency (D000309)
Parent Node: Steroid Metabolism, Inborn Errors (D043202)
..Starting node ..Familial Glucocorticoid Deficiency 1 (C565974)
Child Nodes:
Sister Nodes:
..17-Hydroxysteroid Dehydrogenase Deficiency (C537805) 1
..Adrenal Hyperplasia, Congenital (D000312) 12
..Antley-Bixler Syndrome Phenotype (D054882) 2
..Bile acid synthesis defect, congenital, 1 (C535442)
..Bile acid synthesis defect, congenital, 2 (C535443)
..Bile Acid Synthesis Defect, Congenital, 3 (C566340)
..Cortisone reductase deficiency (C536447)
..Familial Glucocorticoid Deficiency 1 (C565974)
..Hypercholanemia, Familial (C564336)
..Ichthyosis, X-Linked (D016114) 2
..Lathosterolosis (C537880)
..Lyngstadaas syndrome (C537490)
..Mineralocorticoid Excess Syndrome, Apparent (D043204) 1
..Pseudovaginal Perineoscrotal Hypospadias (C535830)
..Smith-Lemli-Opitz Syndrome (D019082) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

4137

Name:

Familial Glucocorticoid Deficiency 1

Definition:

Alternative IDs:

OMIM:202200

ParentIDs:

MESH:D000309|MESH:D043202

TreeNumbers:

C16.320.565.925/C565974 |C18.452.648.925/C565974 |C19.053.500/C565974

Synonyms:

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Metabolic disease

Reference:

MedGen: C565974
MeSH: C565974
OMIM: 202200;

Genes: MC2R;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0005616	Accelerated skeletal maturation
3	HP:0001259	Coma
4	HP:0008163	Decreased circulating cortisol level
5	HP:0001508	Failure to thrive
6	HP:0000953	Hyperpigmentation of the skin
7	HP:0003154	Increased circulating ACTH level
8	HP:0001988	Recurrent hypoglycemia
9	HP:0002719	Recurrent infections
10	HP:0001250	Seizure
11	HP:0000098	Tall stature

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000529.2(MC2R):c.761A>G (p.Tyr254Cys)	4158	MC2R	Pathogenic	28940892	RCV000003422;	N	MedGen:C1859974,OMIM:202200	18	13884757	13884757	NM_000529.2:c.761A>G	NP_000520.1:p.Tyr254Cys	NC_000018.9:g.13884757T>C	OMIM Allelic Variant:607397.0009	C1859974 202200 ACTH resistance
NM_000529.2(MC2R):c.752G>T (p.Cys251Phe)	4158	MC2R	Pathogenic	104894662	RCV000003420;	N	MedGen:C1859974,OMIM:202200	18	13884766	13884766	NM_000529.2:c.752G>T	NP_000520.1:p.Cys251Phe	NC_000018.9:g.13884766C>A	OMIM Allelic Variant:607397.0007	C1859974 202200 ACTH resistance
NM_000529.2(MC2R):c.601C>T (p.Arg201Ter)	4158	MC2R	Pathogenic	104894659	RCV000003415;	N	MedGen:C1859974,OMIM:202200	18	13884917	13884917	NM_000529.2:c.601C>T	NP_000520.1:p.Arg201Ter	NC_000018.9:g.13884917G>A	OMIM Allelic Variant:607397.0002	C1859974 202200 ACTH resistance
NM_000529.2(MC2R):c.409C>T (p.Arg137Trp)	4158	MC2R	Pathogenic	104894660	RCV000003421;	N	MedGen:C1859974,OMIM:202200	18	13885109	13885109	NM_000529.2:c.409C>T	NP_000520.1:p.Arg137Trp	NC_000018.9:g.13885109G>A	OMIM Allelic Variant:607397.0008	C1859974 202200 ACTH resistance
NM_000529.2(MC2R):c.382C>T (p.Arg128Cys)	4158	MC2R	Pathogenic	104894657	RCV000003417;	N	MedGen:C1859974,OMIM:202200	18	13885136	13885136	NM_000529.2:c.382C>T	NP_000520.1:p.Arg128Cys	NC_000018.9:g.13885136G>A	OMIM Allelic Variant:607397.0004	C1859974 202200 ACTH resistance
NM_000529.2(MC2R):c.376G>T (p.Ala126Ser)	4158	MC2R	Pathogenic	267607231	RCV000003423;	N	MedGen:C1859974,OMIM:202200	18	13885142	13885142	NM_000529.2:c.376G>T	NP_000520.1:p.Ala126Ser	NC_000018.9:g.13885142C>A	OMIM Allelic Variant:607397.0010	C1859974 202200 ACTH resistance
NM_000529.2(MC2R):c.360C>G (p.Ser120Arg)	4158	MC2R	Pathogenic	104894656	RCV000003416;	N	MedGen:C1859974,OMIM:202200	18	13885158	13885158	NM_000529.2:c.360C>G	NP_000520.1:p.Ser120Arg	NC_000018.9:g.13885158G>C	OMIM Allelic Variant:607397.0003	C1859974 202200 ACTH resistance
NM_000529.2(MC2R):c.319G>A (p.Asp107Asn)	4158	MC2R	Pathogenic	104894661	RCV000003418;	N	MedGen:C1859974,OMIM:202200	18	13885199	13885199	NM_000529.2:c.319G>A	NP_000520.1:p.Asp107Asn	NC_000018.9:g.13885199C>T	OMIM Allelic Variant:607397.0005	C1859974 202200 ACTH resistance
NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)	4158	MC2R	Pathogenic	104894658	RCV000003414;	N	MedGen:C1859974,OMIM:202200	18	13885297	13885297	NM_000529.2:c.221G>T	NP_000520.1:p.Ser74Ile	NC_000018.9:g.13885297C>A	OMIM Allelic Variant:607397.0001	C1859974 202200 ACTH resistance