MCID: INF159
MIFTS: 34

Infantile Sialic Acid Storage Disease

Categories: Genetic diseases, Neuronal diseases, Bone diseases, Metabolic 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 57 55 73
N-Acetylneuraminic Acid Storage Disease 57 75 73
Sialic Acid Storage Disorder, Infantile 57 13 40
Issd 57 59 75
Infantile Sialic Acid Storage Disorder 76 75
Nsd 57 75
Free Sialic Acid Storage Disease, Infantile Form 59
Sialic Acid Storage Disease, Finnish Type 73
Nana Storage Disease; Nsd 57
Sialuria, Infantile Form 57
Nana Storage Disease 57
Sialuria 73

Characteristics:

Orphanet epidemiological data:

59
free sialic acid storage disease, infantile form
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide),1-9/1000000 (Sweden); Age of onset: Antenatal,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
infantile sialic acid storage disease:
Mortality/Aging death in childhood
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Infantile Sialic Acid Storage Disease

OMIM : 57 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 free sialic acid storage disorders, 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 : 75 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 : 76 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:

# Related Disease Score Top Affiliating Genes
1 sialuria 11.7
2 free sialic acid storage disorders 11.7
3 infantile free sialic acid storage disease 11.3
4 salla disease 10.0
5 hydrops fetalis, nonimmune, and/or atrial septal defect 10.0
6 fetal edema 10.0
7 hydrops fetalis 10.0
8 myelodysplastic syndrome 10.0

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

Symptoms via clinical synopsis from OMIM:

57
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

AbdomenSpleen:
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

Human phenotypes related to Infantile Sialic Acid Storage Disease:

32 (show all 31)
# Description HPO Frequency HPO Source Accession
1 high palate 32 HP:0000218
2 hydrocephalus 32 HP:0000238
3 ptosis 32 HP:0000508
4 nystagmus 32 HP:0000639
5 osteopenia 32 HP:0000938
6 seizures 32 HP:0001250
7 muscular hypotonia 32 HP:0001252
8 failure to thrive 32 HP:0001508
9 gingival overgrowth 32 HP:0000212
10 coarse facial features 32 HP:0000280
11 global developmental delay 32 HP:0001263
12 splenomegaly 32 HP:0001744
13 hepatomegaly 32 HP:0002240
14 anteverted nares 32 HP:0000463
15 cardiomegaly 32 HP:0001640
16 ascites 32 HP:0001541
17 epicanthus 32 HP:0000286
18 abnormality of the thorax 32 HP:0000765
19 congestive heart failure 32 HP:0001635
20 hydrops fetalis 32 HP:0001789
21 abnormality of the foot 32 HP:0001760
22 nephrotic syndrome 32 HP:0000100
23 premature birth 32 HP:0001622
24 cerebral atrophy 32 HP:0002059
25 generalized hypotonia 32 HP:0001290
26 hypopigmentation of the skin 32 HP:0001010
27 conjugated hyperbilirubinemia 32 HP:0002908
28 j-shaped sella turcica 32 HP:0002680
29 vacuolated lymphocytes 32 HP:0001922
30 metaphyseal irregularity 32 HP:0003025
31 fair hair 32 HP:0002286

UMLS symptoms related to Infantile Sialic Acid Storage Disease:


seizures, ataxia, athetosis, muscle spasticity

Drugs & Therapeutics for Infantile Sialic Acid Storage Disease

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sialic Acid Supplementation in N-Acetylneuraminic Acid Synthase (NANS) Deficiency Recruiting NCT03545568 Not Applicable

Search 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:

41
Skin, Heart, Bone, B Cells

Publications for Infantile Sialic Acid Storage Disease

Articles related to Infantile Sialic Acid Storage Disease:

(show all 23)
# Title Authors Year
1
Biochemical and molecular analyses of infantile sialic acid storage disease in a patient with nonimmune hydrops fetalis. ( 29654786 )
2018
2
Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation. ( 23900835 )
2014
3
Infantile sialic acid storage disease (ISSD): report of the first case detected in Poland. ( 12709150 )
2003
4
Infantile sialic acid storage disease: serial ultrasound and magnetic resonance imaging features. ( 12637289 )
2003
5
Infantile sialic acid storage disease and protein-losing gastroenteropathy. ( 12849889 )
2003
6
An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease. ( 12121352 )
2002
7
Infantile sialic acid storage disease: report of the first case in South America. ( 10422814 )
1999
8
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
9
Infantile sialic acid storage disease diagnosed by gas chromatography-mass spectroscopy analyses of urine sample. ( 9323580 )
1997
10
A Japanese case of infantile sialic acid storage disease. ( 8733911 )
1996
11
Infantile sialic acid storage disease: biochemical studies. ( 7573152 )
1995
12
Infantile sialic acid storage disease: a rare cause of cytoplasmic vacuolation in pediatric patients. ( 8597831 )
1995
13
Infantile sialic acid storage disease (ISSD). Report on first case in Czech Republic with biopsy and autopsy findings. ( 7992007 )
1993
14
Storage material from urine and tissues in the nephropathic phenotype of infantile sialic acid storage disease. ( 1583876 )
1992
15
Nephrosis in two siblings with infantile sialic acid storage disease. ( 2347341 )
1990
16
Prenatal diagnosis of infantile sialic acid storage disease in a twin pregnancy. ( 2502674 )
1989
17
Impaired proteolytic processing of lysosomal N-acetyl-beta-hexosaminidase in cultured fibroblasts from patients with infantile generalized N-acetylneuraminic acid storage disease. ( 2965873 )
1988
18
Infantile sialic acid storage disease associated with renal disease. ( 3072006 )
1988
19
Infantile sialic acid storage disease in two siblings. ( 3141716 )
1988
20
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
21
Prenatal diagnosis and confirmation of infantile sialic acid storage disease. ( 3809113 )
1986
22
Infantile sialic acid storage disease: the fate of biosynthetically labeled N-acetyl-(3H)-neuraminic acid in cultured human fibroblasts. ( 2942833 )
1986
23
N-acetylneuraminic acid and sialoglycoconjugate metabolism in fibroblasts from a patient with generalized N-acetylneuraminic acid storage disease. ( 6615884 )
1983

Variations for Infantile Sialic Acid Storage Disease

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

75
# 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
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC17A5 SLC17A5, 1-BP DEL, 533C deletion Pathogenic
2 SLC17A5 SLC17A5, 148-BP DEL, NT1112 deletion Pathogenic
3 SLC17A5 NM_012434.4(SLC17A5): c.548A> G (p.His183Arg) single nucleotide variant Pathogenic rs119491109 GRCh37 Chromosome 6, 74348200: 74348200
4 SLC17A5 NM_012434.4(SLC17A5): c.548A> G (p.His183Arg) single nucleotide variant Pathogenic rs119491109 GRCh38 Chromosome 6, 73638477: 73638477
5 SLC17A5 NM_012434.4(SLC17A5): c.1001C> G (p.Pro334Arg) single nucleotide variant Pathogenic rs119491110 GRCh37 Chromosome 6, 74325148: 74325148
6 SLC17A5 NM_012434.4(SLC17A5): c.1001C> G (p.Pro334Arg) single nucleotide variant Pathogenic rs119491110 GRCh38 Chromosome 6, 73615425: 73615425
7 SLC17A5 SLC17A5, 500-BP INS, NT978 insertion Pathogenic
8 SLC17A5 SLC17A5, 15-BP DEL, NT802 deletion Pathogenic
9 SLC17A5 NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs) deletion Likely pathogenic rs794729653 GRCh37 Chromosome 6, 74351530: 74351530
10 SLC17A5 NM_012434.4(SLC17A5): c.409delA (p.Met137Cysfs) deletion Likely pathogenic rs794729653 GRCh38 Chromosome 6, 73641807: 73641807

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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74 UMLS via Orphanet
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