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 ⁷⁵ ¹³ ⁷³

Gsd1c ⁵⁷ ⁷⁵

Glycogen Storage Disease, Type Ic ⁴⁰

Glycogen Storage Disease Type 1c ⁷⁶

Glycogen Storage Disease Type Id ⁷³

Glycogen Storage Disease 1c ⁷⁵

Glycogen Storage Disease 1d ⁷⁵

Glycogen Storage Disease Id ⁷⁵

Gsd Ic ⁵⁷

Gsd-Ic ⁷⁵

Gsd-Id ⁷⁵

Gsd1d ⁷⁵

Characteristics:

OMIM:

⁵⁷

Inheritance:
autosomal recessive

HPO:

³²

glycogen storage disease ic:
Inheritance autosomal recessive inheritance

Classifications:

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

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 232240

MedGen ⁴² C0342749 C0342750

MeSH ⁴⁴ D005953

SNOMED-CT via HPO ⁶⁹ 258211005 236423003 42399005 more

UMLS ⁷³ C0342749 C0342750

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Summaries for Glycogen Storage Disease Ic

UniProtKB/Swiss-Prot : ⁷⁵ 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.

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

Wikipedia : ⁷⁶ Glycogen storage disease type I (GSD I) or von Gierke disease, is the most common of the glycogen... more...

Description 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, Type 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	Top Affiliating Genes
1	glycogen storage disease	10.0

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Symptoms & Phenotypes for Glycogen Storage Disease Ic

Symptoms via clinical synopsis from OMIM:

⁵⁷

Endo:
hypertension
hypoglycemia

GU:
renal insufficiency
proteinuria
hematuria
focal segmental glomerulosclerosis
reduced creatinine clearance

Pulmonary:
pulmonary hypertension

Skin:
xanthoma
spider angioma
gouty tophi

Heme:
no leukocyte dysfunction

GI:
hepatomegaly
hepatoblastoma
hepatocellular carcinoma
liver adenomas
chronic pancreatitis

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

Human phenotypes related to Glycogen Storage Disease Ic:

³² (show all 21)

#	Description	HPO Source Accession
1	renal insufficiency ³²	HP:0000083
2	proteinuria ³²	HP:0000093
3	focal segmental glomerulosclerosis ³²	HP:0000097
4	hematuria ³²	HP:0000790
5	hypertension ³²	HP:0000822
6	delayed puberty ³²	HP:0000823
7	xanthomatosis ³²	HP:0000991
8	xanthelasma ³²	HP:0001114
9	hepatocellular carcinoma ³²	HP:0001402
10	metabolic acidosis ³²	HP:0001942
11	hypoglycemia ³²	HP:0001943
12	ketosis ³²	HP:0001946
13	gout ³²	HP:0001997
14	pulmonary arterial hypertension ³²	HP:0002092
15	hepatomegaly ³²	HP:0002240
16	hepatoblastoma ³²	HP:0002884
17	hyperlipidemia ³²	HP:0003077
18	lactic acidosis ³²	HP:0003128
19	chronic pancreatitis ³²	HP:0006280
20	decreased glomerular filtration rate ³²	HP:0012213
21	spider hemangioma ³²	HP:0012522

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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

MalaCards organs/tissues related to Glycogen Storage Disease Ic:

⁴¹

Kidney, Liver

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Publications for Glycogen Storage Disease Ic

Articles related to Glycogen Storage Disease Ic:

#	Title	Authors	Year
1	NPT4, a new microsomal phosphate transporter: mutation analysis in glycogen storage disease type Ic. ( 15505377 )	Melis D....Verheijen F.	2004

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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	PubmedIds
1	SLC37A4	Solute Carrier Family 37 Member 4	Protein Coding	1225	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative variation ⁷⁵ Pathogenic/Likely pathogenic ⁶	9675154 10323254 9758626 (more) 9598717

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Variations for Glycogen Storage Disease Ic

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

⁷⁵

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

ClinVar genetic disease variations for Glycogen Storage Disease Ic:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	SLC37A4	SLC37A4, IVS8, 4-BP DEL	deletion	Pathogenic
2	SLC37A4	SLC37A4, 170-BP DEL, NT148	deletion	Pathogenic
3	SLC37A4	NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)	deletion	Pathogenic/Likely pathogenic	rs80356491	GRCh37	Chromosome 11, 118895981: 118895982
4	SLC37A4	NM_001467.5(SLC37A4): c.1042_1043delCT (p.Leu348Valfs)	deletion	Pathogenic/Likely pathogenic	rs80356491	GRCh38	Chromosome 11, 119025271: 119025272
5	SLC37A4	NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)	single nucleotide variant	Likely pathogenic	rs121908976	GRCh37	Chromosome 11, 118898998: 118898998
6	SLC37A4	NM_001164277.1(SLC37A4): c.287G> A (p.Trp96Ter)	single nucleotide variant	Likely pathogenic	rs121908976	GRCh38	Chromosome 11, 119028288: 119028288
7	SLC37A4	SLC37A4, 12-BP INS, NT1103	insertion	Pathogenic

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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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Sources for Glycogen Storage Disease Ic

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⁷⁵ UniProtKB/Swiss-Prot

⁷⁶ Wikipedia