Free sialic acid storage disease, infantile form

General Information (adopted from Orphanet):

Synonyms, Signs: N-ACETYLNEURAMINIC ACID STORAGE DISEASE
SIALURIA, INFANTILE FORM
NANA STORAGE DISEASE
NSD
ISSD
Number of Symptoms 41
OrphanetNr: 309324
OMIM Id: 269920
ICD-10: E77.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Antenatal
Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Free sialic acid storage disease
 -Rare bone disease
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000100) Nephrotic syndrome 83 / 7739
2
 (HPO:0000212) Gingival overgrowth 43 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000280) Coarse facial features 189 / 7739
5
 (HPO:0000286) Epicanthus 371 / 7739
6
 (HPO:0000463) Anteverted nares 305 / 7739
7
 (HPO:0002680) J-shaped sella turcica 15 / 7739
8
 (HPO:0000639) Nystagmus 555 / 7739
9
 (HPO:0000508) Ptosis 459 / 7739
10
 (HPO:0001250) Seizures 1245 / 7739
11
 (HPO:0001263) Global developmental delay 853 / 7739
12
 (HPO:0003025) Metaphyseal irregularity 42 / 7739
13
 (HPO:0001760) Abnormality of the foot 96 / 7739
14
 (HPO:0000765) Abnormality of the thorax 64 / 7739
15
 (HPO:0000938) Osteopenia 138 / 7739
16
 (HPO:0001789) Hydrops fetalis 63 / 7739
17
 (HPO:0001622) Premature birth 100 / 7739
18
 (HPO:0001744) Splenomegaly 337 / 7739
19
 (HPO:0002240) Hepatomegaly 467 / 7739
20
 (HPO:0001541) Ascites 94 / 7739
21
 (HPO:0001508) Failure to thrive 454 / 7739
22
 (HPO:0002286) Fair hair 20 / 7739
23
 (HPO:0001010) Hypopigmentation of the skin 46 / 7739
24
 (HPO:0001640) Cardiomegaly 81 / 7739
25
 (HPO:0001635) Congestive heart failure 232 / 7739
26
 (HPO:0001922) Vacuolated lymphocytes 13 / 7739
27
 (HPO:0002908) Conjugated hyperbilirubinemia 21 / 7739
28
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
29
 (HPO:0001252) Muscular hypotonia 990 / 7739
30
 (HPO:0001324) Muscle weakness 859 / 7739
31
 (HPO:0010547) Muscle flaccidity 466 / 7739
32
 (OMIM) Mild rib widening 1 / 7739
33
 (HPO:0000238) Hydrocephalus 278 / 7739
34
 (OMIM) Increased urinary free sialic acid (N-acetylneuraminic acid, 20-200x normal) 1 / 7739
35
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
36
 (OMIM) Increased fibroblast free sialic acid 1 / 7739
37
 (OMIM) Calcaneal calcifications 1 / 7739
38
 (OMIM) Clear cornea 6 / 7739
39
 (OMIM) Albinoid fundi 1 / 7739
40
 (HPO:0003819) Death in childhood 42 / 7739
41
 (HPO:0002059) Cerebral atrophy 171 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Diagnosis OMIM - Prenatal Diagnosis

In a twin pregnancy of a mother who had had a previous child who died at the age of 17 months of infantile sialic acid storage disease, Lake et al. (1989) found by ...
Clinical Description OMIM Infantile sialic storage disease was described by Tondeur et al. (1982) and studied by Thomas et al. (1983). The infant son and daughter of unrelated Yugoslav parents reported by Tondeur et al. (1982) had a much more severe ...
Molecular genetics OMIM Verheijen et al. (1999) used a positional candidate gene approach to identify a gene, SLC17A5, encoding a protein, sialin, with a predicted transport function that belongs to a family of anion/cation symporters (ACS). They found a homozygous SLC17A5 ...