MCID: SPN352
MIFTS: 26

Spondyloepimetaphyseal Dysplasia, Genevieve Type

Categories: Genetic diseases, Rare diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Genevieve Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Genevieve Type:

Name: Spondyloepimetaphyseal Dysplasia, Genevieve Type 57 75 59
Spondyloepimetaphyseal Dysplasia Genevieve Type 53 29 6
Semdg 57 59 75
Semd Genevieve Type 53 75
Nans Deficiency 57 75
Spondyloepimetaphyseal Dysplasia, Camera-Genevieve Type 57
Semd, Genevieve Type 57
Semd, Geneviève Type 59

Characteristics:

Orphanet epidemiological data:

59
spondyloepimetaphyseal dysplasia, geneviève type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
vertebral bodies appear severely dysplastic in childhood, but have normal shape in adulthood
metaphyseal striations at the knees in childhood disappear in adulthood


HPO:

32
spondyloepimetaphyseal dysplasia, genevieve type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondyloepimetaphyseal Dysplasia, Genevieve Type

UniProtKB/Swiss-Prot : 75 Spondyloepimetaphyseal dysplasia, Genevieve type: An autosomal recessive disorder characterized by global developmental delay with infantile onset, mental retardation, skeletal dysplasia, and short stature. Skeletal findings include flat vertebral bodies with irregular vertebral plates, irregular and flared metaphyses with vertical striations, small and irregular epiphyses, premature carpal ossification and small carpal bones.

MalaCards based summary : Spondyloepimetaphyseal Dysplasia, Genevieve Type, is also known as spondyloepimetaphyseal dysplasia genevieve type. An important gene associated with Spondyloepimetaphyseal Dysplasia, Genevieve Type is NANS (N-Acetylneuraminate Synthase). Affiliated tissues include bone and skin, and related phenotypes are thick lower lip vermilion and brachycephaly

OMIM : 57 Spondyloepiphyseal dysplasia of the Genevieve type (SEMDG) is characterized by infantile-onset severe developmental delay and skeletal dysplasia, including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses (summary by van Karnebeek et al., 2016). (610442)

Related Diseases for Spondyloepimetaphyseal Dysplasia, Genevieve Type

Symptoms & Phenotypes for Spondyloepimetaphyseal Dysplasia, Genevieve Type

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Neurologic Central Nervous System:
ataxia
hypotonia
mental retardation, severe
seizures (in some patients)
hypoplastic corpus callosum (in some patients)
more
Skeletal Spine:
platyspondyly
posterior scalloping of vertebral bodies
coronal clefts at birth
irregular vertebral plates

Skeletal Pelvis:
narrow iliac wings
flat acetabular roofs
short femoral necks

Head And Neck Nose:
broad nose
sunken nasal bridge
prominent bulbous nasal tip

Head And Neck Face:
coarse face

Head And Neck Mouth:
full lips
eversion of lower lip

Head And Neck Teeth:
dental misalignment (in some patients)

Head And Neck Eyes:
nystagmus
synophrys
epicanthal folds
strabismus (in some patients)

Head And Neck Head:
microcephaly
brachycephaly
prominent forehead

Skin Nails Hair Hair:
low posterior hairline
low anterior hairline
synophrys
hirsutism (back and legs)

Skeletal:
spondyloepimetaphyseal dysplasia

Head And Neck Ears:
simple ears

Skeletal Limbs:
small, irregular epiphyses
irregular, flared metaphyses
vertical striations of metaphyses
disproportionately long fibula
joint laxity (in some patients)

Skeletal Hands:
small carpals
advanced carpal ossification in childhood

Skin Nails Hair Skin Electron Microscopy:
large number of small vacuoles near cytoplasmic membrane in fibroblasts and macrophages
large vacuoles with either myelinic or granular osmiophilic bodies


Clinical features from OMIM:

610442

Human phenotypes related to Spondyloepimetaphyseal Dysplasia, Genevieve Type:

32 (show all 39)
# Description HPO Frequency HPO Source Accession
1 thick lower lip vermilion 32 HP:0000179
2 brachycephaly 32 HP:0000248
3 microcephaly 32 HP:0000252
4 coarse facial features 32 HP:0000280
5 epicanthus 32 HP:0000286
6 low anterior hairline 32 HP:0000294
7 abnormality of the pinna 32 HP:0000377
8 wide nose 32 HP:0000445
9 short neck 32 HP:0000470
10 strabismus 32 occasional (7.5%) HP:0000486
11 nystagmus 32 HP:0000639
12 synophrys 32 HP:0000664
13 platyspondyly 32 HP:0000926
14 abnormality of the skin 32 HP:0000951
15 hirsutism 32 HP:0001007
16 intellectual disability 32 HP:0001249
17 seizures 32 occasional (7.5%) HP:0001250
18 ataxia 32 HP:0001251
19 muscular hypotonia 32 HP:0001252
20 generalized hypotonia 32 HP:0001290
21 joint laxity 32 occasional (7.5%) HP:0001388
22 carpal bone hypoplasia 32 HP:0001498
23 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
24 ventriculomegaly 32 occasional (7.5%) HP:0002119
25 low posterior hairline 32 HP:0002162
26 spondyloepimetaphyseal dysplasia 32 HP:0002651
27 narrow iliac wings 32 HP:0002868
28 flared metaphysis 32 HP:0003015
29 metaphyseal irregularity 32 HP:0003025
30 long fibula 32 HP:0003085
31 flat acetabular roof 32 HP:0003180
32 irregular vertebral endplates 32 HP:0003301
33 posterior scalloping of vertebral bodies 32 HP:0005121
34 irregular epiphyses 32 HP:0010582
35 small epiphyses 32 HP:0010585
36 intellectual disability, severe 32 HP:0010864
37 prominent forehead 32 HP:0011220
38 small basal ganglia 32 occasional (7.5%) HP:0012697
39 short femoral neck 32 HP:0100864

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Genevieve Type

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 Spondyloepimetaphyseal Dysplasia, Genevieve Type

Genetic Tests for Spondyloepimetaphyseal Dysplasia, Genevieve Type

Genetic tests related to Spondyloepimetaphyseal Dysplasia, Genevieve Type:

# Genetic test Affiliating Genes
1 Spondyloepimetaphyseal Dysplasia Genevieve Type 29 NANS

Anatomical Context for Spondyloepimetaphyseal Dysplasia, Genevieve Type

MalaCards organs/tissues related to Spondyloepimetaphyseal Dysplasia, Genevieve Type:

41
Bone, Skin

Publications for Spondyloepimetaphyseal Dysplasia, Genevieve Type

Variations for Spondyloepimetaphyseal Dysplasia, Genevieve Type

UniProtKB/Swiss-Prot genetic disease variations for Spondyloepimetaphyseal Dysplasia, Genevieve Type:

75
# Symbol AA change Variation ID SNP ID
1 NANS p.His29Asn VAR_076571
2 NANS p.Gly133Val VAR_076572 rs878852980
3 NANS p.Arg151His VAR_076573 rs140402727
4 NANS p.Tyr188His VAR_076574 rs878852981
5 NANS p.Pro189Leu VAR_076575 rs1024025721Spondyloepimetaphyseal
6 NANS p.Arg237Cys VAR_076576 rs878852982

ClinVar genetic disease variations for Spondyloepimetaphyseal Dysplasia, Genevieve Type:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 NANS NM_018946.3(NANS): c.449-10_449-5delGATTACinsATGG indel Pathogenic rs879255602 GRCh37 Chromosome 9, 100840465: 100840470
2 NANS NM_018946.3(NANS): c.449-10_449-5delGATTACinsATGG indel Pathogenic rs879255602 GRCh38 Chromosome 9, 98078183: 98078188
3 NANS NM_018946.3(NANS): c.389dupT (p.Lys131Glnfs) duplication Pathogenic rs878853267 GRCh38 Chromosome 9, 98076958: 98076958
4 NANS NM_018946.3(NANS): c.389dupT (p.Lys131Glnfs) duplication Pathogenic rs878853267 GRCh37 Chromosome 9, 100839240: 100839240
5 NANS NM_018946.3(NANS): c.448+1G> A single nucleotide variant Pathogenic rs779218846 GRCh37 Chromosome 9, 100839300: 100839300
6 NANS NM_018946.3(NANS): c.448+1G> A single nucleotide variant Pathogenic rs779218846 GRCh38 Chromosome 9, 98077018: 98077018
7 NANS NM_018946.3(NANS): c.452G> A (p.Arg151His) single nucleotide variant Pathogenic rs140402727 GRCh37 Chromosome 9, 100840478: 100840478
8 NANS NM_018946.3(NANS): c.452G> A (p.Arg151His) single nucleotide variant Pathogenic rs140402727 GRCh38 Chromosome 9, 98078196: 98078196
9 NANS NM_018946.3(NANS): c.398G> T (p.Gly133Val) single nucleotide variant Pathogenic rs878852980 GRCh37 Chromosome 9, 100839249: 100839249
10 NANS NM_018946.3(NANS): c.398G> T (p.Gly133Val) single nucleotide variant Pathogenic rs878852980 GRCh38 Chromosome 9, 98076967: 98076967
11 NANS NM_018946.3(NANS): c.979_981dupATC (p.Ile327_Phe328insIle) duplication Pathogenic rs878853268 GRCh37 Chromosome 9, 100845236: 100845238
12 NANS NM_018946.3(NANS): c.979_981dupATC (p.Ile327_Phe328insIle) duplication Pathogenic rs878853268 GRCh38 Chromosome 9, 98082954: 98082956
13 NANS NM_018946.3(NANS): c.562T> C (p.Tyr188His) single nucleotide variant Pathogenic rs878852981 GRCh37 Chromosome 9, 100840588: 100840588
14 NANS NM_018946.3(NANS): c.562T> C (p.Tyr188His) single nucleotide variant Pathogenic rs878852981 GRCh38 Chromosome 9, 98078306: 98078306
15 NANS NM_018946.3(NANS): c.709C> T (p.Arg237Cys) single nucleotide variant Pathogenic rs878852982 GRCh37 Chromosome 9, 100843203: 100843203
16 NANS NM_018946.3(NANS): c.709C> T (p.Arg237Cys) single nucleotide variant Pathogenic rs878852982 GRCh38 Chromosome 9, 98080921: 98080921

Expression for Spondyloepimetaphyseal Dysplasia, Genevieve Type

Search GEO for disease gene expression data for Spondyloepimetaphyseal Dysplasia, Genevieve Type.

Pathways for Spondyloepimetaphyseal Dysplasia, Genevieve Type

GO Terms for Spondyloepimetaphyseal Dysplasia, Genevieve Type

Sources for Spondyloepimetaphyseal Dysplasia, Genevieve Type

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74 UMLS via Orphanet
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