MCID: GLC105
MIFTS: 25

Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency

Categories: Genetic diseases

Aliases & Classifications for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

MalaCards integrated aliases for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

Name: Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency 57 75 6
Gccd4 57 75
Glucocorticoid Deficiency 4, with or Without Mineralocorticoid Deficiency 57
Familial Glucocorticoid Deficiency 4 75
Glucocorticoid Deficiency 4 73
Fgd4 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
variable features may be present
patients may present with recurrent illnesses or infections, or shock
disease is life-threatening if untreated


HPO:

32
glucocorticoid deficiency 4 with or without mineralocorticoid deficiency:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

UniProtKB/Swiss-Prot : 75 Glucocorticoid deficiency 4 with or without mineralocorticoid deficiency: A form of glucocorticoid deficiency, a rare autosomal recessive disorder characterized by resistance to ACTH action on the adrenal cortex, adrenal insufficiency and an inability of the adrenal cortex to produce cortisol. It usually presents in the neonatal period or in early childhood with episodes of hypoglycemia and other symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, convulsions, and shock. In a small number of patients hypoglycemia can be sufficiently severe and persistent that it leads to serious long-term neurological damage or death. The diagnosis is readily confirmed with a low plasma cortisol measurement in the presence of an elevated ACTH level, and normal aldosterone and plasma renin measurements.

MalaCards based summary : Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency, also known as gccd4, is related to charcot-marie-tooth disease, type 4h and charcot-marie-tooth disease. An important gene associated with Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency is NNT (Nicotinamide Nucleotide Transhydrogenase). Affiliated tissues include cortex and adrenal cortex, and related phenotypes are cryptorchidism and renal salt wasting

OMIM : 57 Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). (614736)

Related Diseases for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Diseases related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 charcot-marie-tooth disease, type 4h 12.0
2 charcot-marie-tooth disease 11.6
3 tooth disease 11.6
4 neuropathy, congenital hypomyelinating or amyelinating, autosomal recessive 11.1
5 sensory peripheral neuropathy 11.1
6 breast cancer 9.8
7 nasopharyngeal carcinoma 9.8
8 nasopharyngitis 9.8
9 peripheral nervous system disease 9.8
10 neuropathy 9.8

Graphical network of the top 20 diseases related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:



Diseases related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency

Symptoms & Phenotypes for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Symptoms via clinical synopsis from OMIM:

57
Genitourinary External Genitalia Male:
precocious puberty

Growth Other:
failure to thrive

GenitourinaryInternal GenitaliaMale:
cryptorchidism
testicular enlargement
testicular adrenal rest tumors
leydig cell tumors

Skin Nails Hair Skin:
hyperpigmentation

Endocrine Features:
precocious puberty
hypothyroidism, congenital (rare)

Metabolic Features:
hypoglycemia
salt wasting
addisonian crisis

Laboratory Abnormalities:
hyponatremia
hyperkalemia
elevated acth
low cortisol level
unresponsive to acth stimulation
more
Neurologic Central Nervous System:
seizures, hypoglycemic
coma, hypoglycemic


Clinical features from OMIM:

614736

Human phenotypes related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

32 (show all 9)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 occasional (7.5%) HP:0000028
2 renal salt wasting 32 occasional (7.5%) HP:0000127
3 precocious puberty 32 occasional (7.5%) HP:0000826
4 congenital hypothyroidism 32 occasional (7.5%) HP:0000851
5 hypoglycemic coma 32 occasional (7.5%) HP:0001325
6 failure to thrive 32 HP:0001508
7 hypoglycemia 32 HP:0001943
8 hyperkalemia 32 occasional (7.5%) HP:0002153
9 hyponatremia 32 occasional (7.5%) HP:0002902

Drugs & Therapeutics for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Search Clinical Trials , NIH Clinical Center for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency

Genetic Tests for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Anatomical Context for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

MalaCards organs/tissues related to Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

41
Cortex, Adrenal Cortex

Publications for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Variations for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

UniProtKB/Swiss-Prot genetic disease variations for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 NNT p.Ser193Asn VAR_068781 rs867004061
2 NNT p.Thr357Ala VAR_068782
3 NNT p.His365Pro VAR_068783
4 NNT p.Pro437Leu VAR_068784 rs781183677
5 NNT p.Ala533Val VAR_068785 rs387907232
6 NNT p.Gly664Arg VAR_068786 rs371979800
7 NNT p.Gly678Arg VAR_068787
8 NNT p.Gly862Asp VAR_068788
9 NNT p.Leu977Pro VAR_068789 rs387907233
10 NNT p.Ala1008Pro VAR_068790 rs387907234
11 NNT p.Asn1009Lys VAR_068791 rs370273690

ClinVar genetic disease variations for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency:

6
(show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 NNT NM_012343.3(NNT): c.1598C> T (p.Ala533Val) single nucleotide variant Pathogenic rs387907232 GRCh37 Chromosome 5, 43649402: 43649402
2 NNT NM_012343.3(NNT): c.1598C> T (p.Ala533Val) single nucleotide variant Pathogenic rs387907232 GRCh38 Chromosome 5, 43649300: 43649300
3 NNT NM_012343.3(NNT): c.600-1delG deletion Pathogenic rs786205344 GRCh38 Chromosome 5, 43619031: 43619031
4 NNT NM_012343.3(NNT): c.600-1delG deletion Pathogenic rs786205344 GRCh37 Chromosome 5, 43619133: 43619133
5 NNT NM_012343.3(NNT): c.2930T> C (p.Leu977Pro) single nucleotide variant Pathogenic rs387907233 GRCh37 Chromosome 5, 43700274: 43700274
6 NNT NM_012343.3(NNT): c.2930T> C (p.Leu977Pro) single nucleotide variant Pathogenic rs387907233 GRCh38 Chromosome 5, 43700172: 43700172
7 NNT NM_012343.3(NNT): c.1107_1110delTCAC (p.His370Terfs) deletion Pathogenic rs786205345 GRCh38 Chromosome 5, 43644619: 43644622
8 NNT NM_012343.3(NNT): c.1107_1110delTCAC (p.His370Terfs) deletion Pathogenic rs786205345 GRCh37 Chromosome 5, 43644721: 43644724
9 NNT NM_012343.3(NNT): c.3027T> G (p.Asn1009Lys) single nucleotide variant Pathogenic rs370273690 GRCh38 Chromosome 5, 43702652: 43702652
10 NNT NM_012343.3(NNT): c.3027T> G (p.Asn1009Lys) single nucleotide variant Pathogenic rs370273690 GRCh37 Chromosome 5, 43702754: 43702754
11 NNT NM_012343.3(NNT): c.3022G> C (p.Ala1008Pro) single nucleotide variant Pathogenic rs387907234 GRCh37 Chromosome 5, 43702749: 43702749
12 NNT NM_012343.3(NNT): c.3022G> C (p.Ala1008Pro) single nucleotide variant Pathogenic rs387907234 GRCh38 Chromosome 5, 43702647: 43702647
13 NNT NM_012343.3(NNT): c.1259dupG (p.His421Serfs) duplication Pathogenic rs864309519 GRCh37 Chromosome 5, 43644873: 43644873
14 NNT NM_012343.3(NNT): c.1259dupG (p.His421Serfs) duplication Pathogenic rs864309519 GRCh38 Chromosome 5, 43644771: 43644771
15 NNT NM_012343.3(NNT): c.644T> C (p.Phe215Ser) single nucleotide variant Pathogenic rs886039786 GRCh37 Chromosome 5, 43619178: 43619178
16 NNT NM_012343.3(NNT): c.644T> C (p.Phe215Ser) single nucleotide variant Pathogenic rs886039786 GRCh38 Chromosome 5, 43619076: 43619076
17 NNT NM_012343.3(NNT): c.385C> T (p.Arg129Ter) single nucleotide variant Pathogenic rs886039789 GRCh37 Chromosome 5, 43615953: 43615953
18 NNT NM_012343.3(NNT): c.385C> T (p.Arg129Ter) single nucleotide variant Pathogenic rs886039789 GRCh38 Chromosome 5, 43615851: 43615851
19 NNT NM_012343.3(NNT): c.211C> T (p.Arg71Ter) single nucleotide variant Pathogenic rs886039790 GRCh37 Chromosome 5, 43613069: 43613069
20 NNT NM_012343.3(NNT): c.211C> T (p.Arg71Ter) single nucleotide variant Pathogenic rs886039790 GRCh38 Chromosome 5, 43612967: 43612967

Expression for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Search GEO for disease gene expression data for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid Deficiency.

Pathways for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

GO Terms for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

Sources for Glucocorticoid Deficiency 4 with or Without Mineralocorticoid...

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