ISSD
MCID: INF159
MIFTS: 33

Infantile Sialic Acid Storage Disease (ISSD)

Categories: Bone diseases, Genetic diseases, Metabolic diseases, Nephrological diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Infantile Sialic Acid Storage Disease

MalaCards integrated aliases for Infantile Sialic Acid Storage Disease:

Name: Infantile Sialic Acid Storage Disease 58 56 74
N-Acetylneuraminic Acid Storage Disease 58 76 74
Sialic Acid Storage Disorder, Infantile 58 13 41
Issd 58 60 76
Infantile Sialic Acid Storage Disorder 77 76
Nsd 58 76
Free Sialic Acid Storage Disease, Infantile Form 60
Sialic Acid Storage Disease, Finnish Type 74
Nana Storage Disease; Nsd 58
Sialuria, Infantile Form 58
Nana Storage Disease 58
Sialuria 74

Characteristics:

Orphanet epidemiological data:

60
free sialic acid storage disease, infantile form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Sweden); Age of onset: Antenatal,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
allelic to sialuria, finnish type
early death (mean age 13 months)


HPO:

33
infantile sialic acid storage disease:
Clinical modifier death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Infantile Sialic Acid Storage Disease

OMIM : 58 Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999). (269920)

MalaCards based summary : Infantile Sialic Acid Storage Disease, also known as n-acetylneuraminic acid storage disease, is related to sialuria and infantile free sialic acid storage disease, and has symptoms including seizures, ataxia and athetosis. An important gene associated with Infantile Sialic Acid Storage Disease is SLC17A5 (Solute Carrier Family 17 Member 5). Affiliated tissues include skin, heart and bone, and related phenotypes are high palate and hydrocephalus

UniProtKB/Swiss-Prot : 76 Infantile sialic acid storage disorder: Severe form of sialic acid storage disease. Affected newborns exhibit visceromegaly, coarse features and failure to thrive immediately after birth. These patients have a shortened life span, usually less than 2 years.

Wikipedia : 77 Infantile free sialic acid storage disease (ISSD) is a lysosomal storage disease Occurs when a sialic... more...

Related Diseases for Infantile Sialic Acid Storage Disease

Diseases related to Infantile Sialic Acid Storage Disease via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 11)
# Related Disease Score Top Affiliating Genes
1 sialuria 11.9
2 infantile free sialic acid storage disease 11.5
3 salla disease 10.1
4 lymphatic malformation 7 10.1
5 fetal edema 10.1
6 hydrops fetalis 10.1
7 breast cancer 10.1
8 cervical cancer 10.1
9 myelodysplastic syndrome 10.1
10 agammaglobulinemia 10.1
11 free sialic acid storage disorders 10.1

Graphical network of the top 20 diseases related to Infantile Sialic Acid Storage Disease:



Diseases related to Infantile Sialic Acid Storage Disease

Symptoms & Phenotypes for Infantile Sialic Acid Storage Disease

Human phenotypes related to Infantile Sialic Acid Storage Disease:

33 (show all 31)
# Description HPO Frequency HPO Source Accession
1 high palate 33 HP:0000218
2 hydrocephalus 33 HP:0000238
3 ptosis 33 HP:0000508
4 nystagmus 33 HP:0000639
5 osteopenia 33 HP:0000938
6 seizures 33 HP:0001250
7 muscular hypotonia 33 HP:0001252
8 failure to thrive 33 HP:0001508
9 gingival overgrowth 33 HP:0000212
10 coarse facial features 33 HP:0000280
11 global developmental delay 33 HP:0001263
12 splenomegaly 33 HP:0001744
13 hepatomegaly 33 HP:0002240
14 anteverted nares 33 HP:0000463
15 cardiomegaly 33 HP:0001640
16 ascites 33 HP:0001541
17 epicanthus 33 HP:0000286
18 abnormality of the thorax 33 HP:0000765
19 congestive heart failure 33 HP:0001635
20 hydrops fetalis 33 HP:0001789
21 abnormality of the foot 33 HP:0001760
22 nephrotic syndrome 33 HP:0000100
23 premature birth 33 HP:0001622
24 generalized hypotonia 33 HP:0001290
25 cerebral atrophy 33 HP:0002059
26 hypopigmentation of the skin 33 HP:0001010
27 conjugated hyperbilirubinemia 33 HP:0002908
28 j-shaped sella turcica 33 HP:0002680
29 vacuolated lymphocytes 33 HP:0001922
30 metaphyseal irregularity 33 HP:0003025
31 fair hair 33 HP:0002286

Symptoms via clinical synopsis from OMIM:

58
Neurologic Central Nervous System:
hydrocephalus
seizures
cerebral atrophy
developmental delay
hypotonia

Skeletal:
osteopenia

Head And Neck Face:
coarse facial features

Abdomen Liver:
hepatomegaly

Abdomen:
ascites

Genitourinary Kidneys:
nephrotic syndrome

Laboratory Abnormalities:
conjugated hyperbilirubinemia
increased urinary free sialic acid (n-acetylneuraminic acid, 20-200x normal)
increased fibroblast free sialic acid
enlarged lysosomal vacuoles in lymphocytes

Head And Neck Mouth:
high-arched palate
gum hypertrophy

Head And Neck Nose:
anteverted nose

Skeletal Skull:
j-shaped sella

Skin Nails Hair Skin:
hypopigmented skin

Head And Neck Eyes:
ptosis
nystagmus
epicanthal folds
clear cornea
albinoid fundi

Growth Other:
failure to thrive

Abdomen Spleen:
splenomegaly

Cardiovascular Heart:
cardiomegaly
heart failure

Prenatal Manifestations:
hydrops fetalis

Prenatal Manifestations Delivery:
premature birth

Skin Nails Hair Hair:
fair hair

Skeletal Limbs:
metaphyseal irregularities

Chest Ribs Sternum Clavicles And Scapulae:
mild rib widening

Skeletal Feet:
calcaneal calcifications

Clinical features from OMIM:

269920

UMLS symptoms related to Infantile Sialic Acid Storage Disease:


seizures, ataxia, athetosis, muscle spasticity

Drugs & Therapeutics for Infantile Sialic Acid Storage Disease

Search Clinical Trials , NIH Clinical Center for Infantile Sialic Acid Storage Disease

Genetic Tests for Infantile Sialic Acid Storage Disease

Anatomical Context for Infantile Sialic Acid Storage Disease

MalaCards organs/tissues related to Infantile Sialic Acid Storage Disease:

42
Skin, Heart, Bone, B Cells, Brain

Publications for Infantile Sialic Acid Storage Disease

Articles related to Infantile Sialic Acid Storage Disease:

(show all 35)
# Title Authors Year
1
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. ( 29654786 )
2018
2
Hypogammaglobulinemia and imaging features in a patient with infantile free sialic acid storage disease (ISSD) and a novel mutation in the SLC17A5 gene. ( 30243016 )
2018
3
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. ( 23900835 )
2014
4
Salla disease and ISSD--what does the future hold? ( 15171996 )
2004
5
Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children. ( 12794688 )
2003
6
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. ( 12637289 )
2003
7
Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland. ( 12709150 )
2003
8
Infantile sialic acid storage disease and protein-losing gastroenteropathy. ( 12849889 )
2003
9
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. ( 12121352 )
2002
10
Clinical spectrum of infantile free sialic acid storage disease. ( 10069709 )
1999
11
Infantile sialic acid storage disease: report of the first case in South America. ( 10422814 )
1999
12
ISSD Version 2.0: taxonomic range extended. ( 9847198 )
1999
13
A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases. ( 10581036 )
1999
14
Establishment and characterization of an Epstein-Barr virus-transformed B cell line, KM/C8, from a patient with infantile sialic acid storage disease. ( 9685606 )
1998
15
Infantile sialic acid storage disease diagnosed by gas chromatography-mass spectroscopy analyses of urine sample. ( 9323580 )
1997
16
A Japanese case of infantile sialic acid storage disease. ( 8733911 )
1996
17
Infantile sialic acid storage disease: biochemical studies. ( 7573152 )
1995
18
Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients. ( 8597831 )
1995
19
Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings. ( 7992007 )
1993
20
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease. ( 1583876 )
1992
21
Sialic acid storage diseases. A multiple lysosomal transport defect for acidic monosaccharides. ( 2010546 )
1991
22
Nephrosis in two siblings with infantile sialic acid storage disease. ( 2347341 )
1990
23
Sialic acid storage disease. ( 2334213 )
1990
24
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy. ( 2502674 )
1989
25
Infantile sialic acid storage disease associated with renal disease. ( 3072006 )
1988
26
Infantile sialic acid storage disease in two siblings. ( 3141716 )
1988
27
Impaired proteolytic processing of lysosomal N-acetyl-beta-hexosaminidase in cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease. ( 2965873 )
1988
28
The effect of D-(+)-glucosamine on levels of free N-acetylneuraminic acid and UDP-N-acetylhexosamines in infantile sialic acid storage disease (ISSD) fibroblasts. ( 3106716 )
1987
29
Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts. ( 2942833 )
1986
30
Prenatal diagnosis and confirmation of infantile sialic acid storage disease. ( 3809113 )
1986
31
N-acetylneuraminic acid accumulation in a buoyant lysosomal fraction of cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease. ( 2945557 )
1986
32
N-Acetylneuraminic acid storage disease. ( 4043964 )
1985
33
N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease. ( 6615884 )
1983
34
Generalized N-acetylneuraminic acid storage disease: quantitation and identification of the monosaccharide accumulating in brain and other tissues. ( 7057193 )
1982
35
Infantile form of sialic acid storage disorder: clinical, ultrastructural, and biochemical studies in two siblings. ( 7151835 )
1982

Variations for Infantile Sialic Acid Storage Disease

UniProtKB/Swiss-Prot genetic disease variations for Infantile Sialic Acid Storage Disease:

76
# Symbol AA change Variation ID SNP ID
1 SLC17A5 p.His183Arg VAR_018686 rs119491109
2 SLC17A5 p.Pro334Arg VAR_018688 rs119491110
3 SLC17A5 p.Gly371Val VAR_018689

ClinVar genetic disease variations for Infantile Sialic Acid Storage Disease:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC17A5 NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic rs80338794 GRCh37 Chromosome 6, 74354306: 74354306
2 SLC17A5 NM_012434.4(SLC17A5): c.115C> T (p.Arg39Cys) single nucleotide variant Pathogenic rs80338794 GRCh38 Chromosome 6, 73644583: 73644583
3 SLC17A5 SLC17A5, 1-BP DEL, 533C deletion Pathogenic
4 SLC17A5 SLC17A5, 148-BP DEL, NT1112 deletion Pathogenic
5 SLC17A5 NM_012434.4(SLC17A5): c.548A> G (p.His183Arg) single nucleotide variant Pathogenic rs119491109 GRCh37 Chromosome 6, 74348200: 74348200
6 SLC17A5 NM_012434.4(SLC17A5): c.548A> G (p.His183Arg) single nucleotide variant Pathogenic rs119491109 GRCh38 Chromosome 6, 73638477: 73638477
7 SLC17A5 NM_012434.4(SLC17A5): c.1001C> G (p.Pro334Arg) single nucleotide variant Pathogenic rs119491110 GRCh37 Chromosome 6, 74325148: 74325148
8 SLC17A5 NM_012434.4(SLC17A5): c.1001C> G (p.Pro334Arg) single nucleotide variant Pathogenic rs119491110 GRCh38 Chromosome 6, 73615425: 73615425
9 SLC17A5 SLC17A5, 500-BP INS, NT978 insertion Pathogenic
10 SLC17A5 SLC17A5, 15-BP DEL, NT802 deletion Pathogenic
11 SLC17A5 NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80338795 GRCh37 Chromosome 6, 74351533: 74351533
12 SLC17A5 NM_012434.4(SLC17A5): c.406A> G (p.Lys136Glu) single nucleotide variant Pathogenic/Likely pathogenic rs80338795 GRCh38 Chromosome 6, 73641810: 73641810
13 SLC17A5 NM_012434.4(SLC17A5): c.500T> C (p.Leu167Pro) single nucleotide variant Uncertain significance rs587779410 GRCh37 Chromosome 6, 74351439: 74351439
14 SLC17A5 NM_012434.4(SLC17A5): c.500T> C (p.Leu167Pro) single nucleotide variant Uncertain significance rs587779410 GRCh38 Chromosome 6, 73641716: 73641716
15 SLC17A5 NM_012434.4(SLC17A5): c.899C> T (p.Ser300Phe) single nucleotide variant Uncertain significance rs142553916 GRCh37 Chromosome 6, 74331606: 74331606
16 SLC17A5 NM_012434.4(SLC17A5): c.899C> T (p.Ser300Phe) single nucleotide variant Uncertain significance rs142553916 GRCh38 Chromosome 6, 73621883: 73621883
17 SLC17A5 NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs) deletion Likely pathogenic rs794729653 GRCh37 Chromosome 6, 74351530: 74351530
18 SLC17A5 NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs) deletion Likely pathogenic rs794729653 GRCh38 Chromosome 6, 73641807: 73641807
19 SLC17A5 NM_012434.4(SLC17A5): c.918T> G (p.Tyr306Ter) single nucleotide variant Pathogenic rs201284672 GRCh37 Chromosome 6, 74331587: 74331587
20 SLC17A5 NM_012434.4(SLC17A5): c.918T> G (p.Tyr306Ter) single nucleotide variant Pathogenic rs201284672 GRCh38 Chromosome 6, 73621864: 73621864

Expression for Infantile Sialic Acid Storage Disease

Search GEO for disease gene expression data for Infantile Sialic Acid Storage Disease.

Pathways for Infantile Sialic Acid Storage Disease

GO Terms for Infantile Sialic Acid Storage Disease

Sources for Infantile Sialic Acid Storage Disease

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