Glycogen Storage Disease Ic disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Glycogen Storage Disease Ic

MalaCards integrated aliases for Glycogen Storage Disease Ic:

Name: Glycogen Storage Disease Ic ⁵⁷ ⁷³ ¹² ⁵ ⁷¹

Gsd1c ⁵⁷ ⁷³

Glycogen Storage Disease, Type Ic ³⁸

Glycogen Storage Disease Type 1c ⁷⁵

Glycogen Storage Disease Type Id ⁷¹

Glycogen Storage Disease 1c ⁷³

Glycogen Storage Disease 1d ⁷³

Glycogen Storage Disease Id ⁷³

Gsd Ic ⁵⁷

Gsd-Ic ⁷³

Gsd-Id ⁷³

Gsd1d ⁷³

Characteristics:

Inheritance:

Autosomal recessive ⁵⁷

Classifications:

MalaCards categories:
Global: Genetic diseases Metabolic diseases Rare diseases
Anatomical: Nephrological diseases Liver diseases Endocrine diseases Neuronal diseases Blood diseases Bone diseases Cardiovascular diseases Muscle diseases

See all MalaCards categories (disease lists)

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Summaries for Glycogen Storage Disease Ic

UniProtKB/Swiss-Prot ⁷³ Glycogen storage disease 1c: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.

Glycogen storage disease 1d: A metabolic disorder characterized by impairment of terminal steps of glycogenolysis and gluconeogenesis. Patients manifest a wide range of clinical symptoms and biochemical abnormalities, including hypoglycemia, severe hepatomegaly due to excessive accumulation of glycogen, kidney enlargement, growth retardation, lactic acidemia, hyperlipidemia, and hyperuricemia.

MalaCards based summary: Glycogen Storage Disease Ic, also known as gsd1c, is related to glycogen storage disease and glycogen storage disease ia. An important gene associated with Glycogen Storage Disease Ic is SLC37A4 (Solute Carrier Family 37 Member 4). Affiliated tissues include liver, kidney and neutrophil, and related phenotypes are hypertension and hepatomegaly

Wikipedia: ⁷⁵ Glycogen storage disease type I (GSD I) is an inherited disease that results in the liver being unable... more...

More information from OMIM: 232240

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Related Diseases for Glycogen Storage Disease Ic

Diseases in the Glycogen Storage Disease family:

Glycogen Storage Disease Ia	Glycogen Storage Disease Ib
Glycogen Storage Disease Ic	Glycogen Storage Disease Ii
Glycogen Storage Disease Iii	Glycogen Storage Disease Iv
Glycogen Storage Disease V	Glycogen Storage Disease Vi
Glycogen Storage Disease Vii	Glycogen Storage Disease X
Glycogen Storage Disease Ixb	Glycogen Storage Disease Ixd
Glycogen Storage Disease Xii	Glycogen Storage Disease Xiii
Glycogen Storage Disease Ixc	Glycogen Storage Disease Xv
Glycogen Storage Disease Ix	Glycogen Storage Disease Ixa
Glycogen Storage Disease Viii	Glycogen Storage Disease Type 0

Diseases related to Glycogen Storage Disease Ic via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score
1	glycogen storage disease	10.3
2	glycogen storage disease ia	10.2
3	glycogen storage disease ib	10.2
4	neutropenia	10.2
5	hypoglycemia	10.2

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ic:

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Symptoms & Phenotypes for Glycogen Storage Disease Ic

Human phenotypes related to Glycogen Storage Disease Ic:

³⁰ (show all 22)

#	Description	HPO Source Accession
1	hypertension ³⁰	HP:0000822
2	hepatomegaly ³⁰	HP:0002240
3	proteinuria ³⁰	HP:0000093
4	delayed puberty ³⁰	HP:0000823
5	renal insufficiency ³⁰	HP:0000083
6	hypoglycemia ³⁰	HP:0001943
7	hyperuricemia ³⁰	HP:0002149
8	hematuria ³⁰	HP:0000790
9	hyperlipidemia ³⁰	HP:0003077
10	gout ³⁰	HP:0001997
11	pulmonary arterial hypertension ³⁰	HP:0002092
12	hepatoblastoma ³⁰	HP:0002884
13	lactic acidosis ³⁰	HP:0003128
14	metabolic acidosis ³⁰	HP:0001942
15	xanthomatosis ³⁰	HP:0000991
16	decreased glomerular filtration rate ³⁰	HP:0012213
17	hepatocellular carcinoma ³⁰	HP:0001402
18	xanthelasma ³⁰	HP:0001114
19	focal segmental glomerulosclerosis ³⁰	HP:0000097
20	spider hemangioma ³⁰	HP:0012522
21	chronic pancreatitis ³⁰	HP:0006280
22	hyperketonemia ³⁰	HP:0410175

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 08-Dec-2022)

Endo:
hypertension
hypoglycemia

G U:
proteinuria
renal insufficiency
hematuria
focal segmental glomerulosclerosis
reduced creatinine clearance

Pulmonary:
pulmonary hypertension

Skin:
xanthoma
spider angioma
gouty tophi

Heme:
no leukocyte dysfunction

G I:
hepatomegaly
hepatoblastoma
hepatocellular carcinoma
chronic pancreatitis
liver adenomas

Lab:
hyperuricemia
metabolic acidosis
ketonemia
t2 transport protein (phosphate-pyrophosphate translocase) defect
lipidemia
more

Joints:
gouty arthritis

Growth:
growth lag
delalyed puberty

Clinical features from OMIM®:

232240 (Updated 08-Dec-2022)

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Drugs & Therapeutics for Glycogen Storage Disease Ic

Search Clinical Trials, NIH Clinical Center for Glycogen Storage Disease Ic

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Genetic Tests for Glycogen Storage Disease Ic

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Anatomical Context for Glycogen Storage Disease Ic

Organs/tissues related to Glycogen Storage Disease Ic:

MalaCards : Liver, Kidney, Neutrophil

ODiseA: Kidney

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Publications for Glycogen Storage Disease Ic

Articles related to Glycogen Storage Disease Ic:

(show all 18)

#	Title	Authors	PMID	Year
1	Molecular diagnosis of type 1c glycogen storage disease. ⁵⁷ ⁵	Janecke AR...Janssen B	10323254	1999
2	A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. ⁵⁷ ⁵	Veiga-da-Cunha M...Van Schaftingen E	9758626	1998
3	Localisation of the gene for glycogen storage disease type 1c by homozygosity mapping to 11q. ⁵⁷ ⁵	Fenske CD...Lee PJ	9598717	1998
4	Type-1c glycogen storage disease is not caused by mutations in the glucose-6-phosphate transporter gene. ⁵⁷	Lin B...Chou JY	10598822	1999
5	Molecular analysis of glycogen storage disease type Ib: identification of a prevalent mutation among Japanese patients and assignment of a putative glucose-6-phosphate translocase gene to chromosome 11. ⁵	Kure S...Narisawa K	9675154	1998
6	Neutropenia and neutrophil dysfunction in glycogen storage disease type 1c. ⁵⁷	Visser G...Smit GP	9686363	1998
7	The gene for glycogen-storage disease type 1b maps to chromosome 11q23. ⁵⁷	Annabi B...Chou JY	9463334	1998
8	Sequence of a putative glucose 6-phosphate translocase, mutated in glycogen storage disease type Ib. ⁵⁷	Gerin I...Van Schaftingen E	9428641	1997
9	Diagnosis of type 1B and 1C glycogen storage disease. ⁵⁷	Burchell A...Gibb L	1663192	1991
10	Molecular pathology of glucose-6-phosphatase. ⁵⁷	Burchell A	2168325	1990
11	Diagnosis of type 1a and type 1c glycogen storage diseases in adults. ⁵⁷	Burchell A...Shepherd AN	2883397	1987
12	Type Ic, a novel glycogenosis. Underlying mechanism. ⁵⁷	Nordlie RC...Baldwin JJ	6309784	1983
13	Evidence for the participation of independent translocation for phosphate and glucose 6-phosphate in the microsomal glucose-6-phosphatase system. Interactions of the system with orthophosphate, inorganic pyrophosphate, and carbamyl phosphate. ⁵⁷	Arion WJ...Ballas LM	6253473	1980
14	The glucose-6-phosphate transporter is a phosphate-linked antiporter deficient in glycogen storage disease type Ib and Ic. ⁶²	Chen SY...Chou JY	18337460	2008
15	NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. ⁶²	Melis D...Verheijen F	15505377	2004
16	Historical highlights and unsolved problems in glycogen storage disease type 1. ⁶²	Moses SW	12373565	2002
17	How many forms of glycogen storage disease type I? ⁶²	Veiga-da-Cunha M...Van Schaftingen E	10834514	2000
18	The putative glucose 6-phosphate translocase gene is mutated in essentially all cases of glycogen storage disease type I non-a. ⁶²	Veiga-da-Cunha M...Van Schaftingen E	10482962	1999

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Genes for Glycogen Storage Disease Ic

Genes related to Glycogen Storage Disease Ic (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	SLC37A4	Solute Carrier Family 37 Member 4	Protein Coding	1225	Molecular basis known ⁵⁷ Pathogenic ⁵ Causative variation ⁷³ Likely pathogenic ⁵	9598717 9675154 9758626 (more) 10323254

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Variations for Glycogen Storage Disease Ic

ClinVar genetic disease variations for Glycogen Storage Disease Ic:

⁵ (show all 20)

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	SLC37A4	NM_001164277.2(SLC37A4):c.1243C>T (p.Arg415Ter)	SNV	Pathogenic	6934	rs121908979	GRCh37: 11:118895667-118895667 GRCh38: 11:119024957-119024957
2	SLC37A4	NM_001164277.2(SLC37A4):c.148+1G>A	SNV	Pathogenic	6932		GRCh37: 11:118899931-118899931 GRCh38: 11:119029221-119029221
3	SLC37A4	NM_001164277.2(SLC37A4):c.287G>A (p.Trp96Ter)	SNV	Pathogenic	6928	rs121908976	GRCh37: 11:118898998-118898998 GRCh38: 11:119028288-119028288
4	SLC37A4	NM_001164277.2(SLC37A4):c.1124+3_1124+6del	DEL	Pathogenic	1301338		GRCh37: 11:118895895-118895898 GRCh38: 11:119025185-119025188
5	SLC37A4	NM_001164277.2(SLC37A4):c.923_934dup (p.Met308_Met311dup)	DUP	Pathogenic	188799	rs786204477	GRCh37: 11:118896726-118896727 GRCh38: 11:119026016-119026017
6	SLC37A4	NM_001164277.2(SLC37A4):c.1042_1043del (p.Leu348fs)	DEL	Pathogenic Pathogenic	6926	rs80356491	GRCh37: 11:118895981-118895982 GRCh38: 11:119025271-119025272
7	SLC37A4	NM_001164277.2(SLC37A4):c.963_964del (p.Val322fs)	DEL	Likely Pathogenic	800776	rs1592109970	GRCh37: 11:118896697-118896698 GRCh38: 11:119025987-119025988
8	SLC37A4	NM_001164277.2(SLC37A4):c.496C>T (p.Arg166Cys)	SNV	Uncertain Significance	827988	rs11552539	GRCh37: 11:118898468-118898468 GRCh38: 11:119027758-119027758
9	SLC37A4	NM_001164277.2(SLC37A4):c.711T>G (p.Phe237Leu)	SNV	Uncertain Significance	1209841		GRCh37: 11:118897720-118897720 GRCh38: 11:119027010-119027010
10	SLC37A4	NM_001164277.2(SLC37A4):c.1004G>A (p.Gly335Glu)	SNV	Uncertain Significance	663384	rs1326123837	GRCh37: 11:118896020-118896020 GRCh38: 11:119025310-119025310
11	SLC37A4	NM_001164277.2(SLC37A4):c.467C>T (p.Ala156Val)	SNV	Uncertain Significance	215177	rs201036248	GRCh37: 11:118898497-118898497 GRCh38: 11:119027787-119027787
12	SLC37A4	NM_001164277.2(SLC37A4):c.497G>A (p.Arg166His)	SNV	Uncertain Significance	215178	rs186476316	GRCh37: 11:118898467-118898467 GRCh38: 11:119027757-119027757
13	SLC37A4	NM_001164277.2(SLC37A4):c.556C>T (p.Leu186Phe)	SNV	Uncertain Significance	595016	rs538938823	GRCh37: 11:118898407-118898407 GRCh38: 11:119027697-119027697
14	SLC37A4	NM_001164277.2(SLC37A4):c.943A>G (p.Met315Val)	SNV	Uncertain Significance	1038940	rs782475284	GRCh37: 11:118896718-118896718 GRCh38: 11:119026008-119026008
15	SLC37A4	NM_001164277.2(SLC37A4):c.1275C>T (p.Ser425=)	SNV	Benign	139193	rs35010541	GRCh37: 11:118895635-118895635 GRCh38: 11:119024925-119024925
16	SLC37A4	NM_001164277.2(SLC37A4):c.1224G>A (p.Thr408=)	SNV	Benign	139192	rs8192696	GRCh37: 11:118895686-118895686 GRCh38: 11:119024976-119024976
17	SLC37A4	NM_001164277.2(SLC37A4):c.1062C>T (p.Asn354=)	SNV	Benign	139191	rs61730035	GRCh37: 11:118895962-118895962 GRCh38: 11:119025252-119025252
18	SLC37A4	NM_001164277.2(SLC37A4):c.626+19C>T	SNV	Benign	139190	rs741811	GRCh37: 11:118898319-118898319 GRCh38: 11:119027609-119027609
19	SLC37A4	NM_001164277.2(SLC37A4):c.626+14C>T	SNV	Benign	139189	rs56394886	GRCh37: 11:118898324-118898324 GRCh38: 11:119027614-119027614
20	SLC37A4	NM_001164277.2(SLC37A4):c.149-14A>G	SNV	Benign	139186	rs79849261	GRCh37: 11:118899150-118899150 GRCh38: 11:119028440-119028440

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ic:

⁷³

#	Symbol	AA change	Variation ID	SNP ID
1	SLC37A4	p.Gln133Pro	VAR_025591	rs193302896
2	SLC37A4	p.Gly376Ser	VAR_025604	rs193302897

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Expression for Glycogen Storage Disease Ic

Search GEO for disease gene expression data for Glycogen Storage Disease Ic.

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Pathways for Glycogen Storage Disease Ic

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GO Terms for Glycogen Storage Disease Ic

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⁵³ Novoseek

⁵⁴ Novus Biologicals

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⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 08-Dec-2022)

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GSD1C MCID: GLY017 MIFTS: 32	Glycogen Storage Disease Ic (GSD1C) Categories: Blood diseases, Bone diseases, Cardiovascular diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Muscle diseases, Nephrological diseases, Neuronal diseases, Rare diseases	Data Licensing For inquiries, contact: [email protected]
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Expand all tables

Glycogen Storage Disease Ic (GSD1C)

Aliases & Classifications for Glycogen Storage Disease Ic

MalaCards integrated aliases for Glycogen Storage Disease Ic:

Characteristics:

Inheritance:

Classifications:

External Ids:

Summaries for Glycogen Storage Disease Ic

Related Diseases for Glycogen Storage Disease Ic

Diseases in the Glycogen Storage Disease family:

Diseases related to Glycogen Storage Disease Ic via text searches within MalaCards or GeneCards Suite gene sharing:

Graphical network of the top 20 diseases related to Glycogen Storage Disease Ic:

Symptoms & Phenotypes for Glycogen Storage Disease Ic

Human phenotypes related to Glycogen Storage Disease Ic:

Symptoms via clinical synopsis from OMIM®:

Clinical features from OMIM®:

Drugs & Therapeutics for Glycogen Storage Disease Ic

Genetic Tests for Glycogen Storage Disease Ic

Anatomical Context for Glycogen Storage Disease Ic

Organs/tissues related to Glycogen Storage Disease Ic:

Publications for Glycogen Storage Disease Ic

Articles related to Glycogen Storage Disease Ic:

Genes for Glycogen Storage Disease Ic

Genes related to Glycogen Storage Disease Ic (1 elite genes):

Variations for Glycogen Storage Disease Ic

ClinVar genetic disease variations for Glycogen Storage Disease Ic:

UniProtKB/Swiss-Prot genetic disease variations for Glycogen Storage Disease Ic:

Expression for Glycogen Storage Disease Ic

Pathways for Glycogen Storage Disease Ic

GO Terms for Glycogen Storage Disease Ic

Sources for Glycogen Storage Disease Ic