SEMDG
MCID: SPN352
MIFTS: 28

Spondyloepimetaphyseal Dysplasia, Genevieve Type (SEMDG)

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

Aliases & Classifications for Spondyloepimetaphyseal Dysplasia, Genevieve Type

MalaCards integrated aliases for Spondyloepimetaphyseal Dysplasia, Genevieve Type:

Name: Spondyloepimetaphyseal Dysplasia, Genevieve Type 57 75
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
Spondyloepimetaphyseal Dysplasia, Geneviève Type 59
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

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 168454Disease definitionSpondyloepimetaphyseal dysplasia, Geneviève type is a rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips.Visit the Orphanet disease page for more resources.

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). The drug Azacitidine has been mentioned in the context of this disorder. Affiliated tissues include bone and skin, and related phenotypes are short neck and nystagmus

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)

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.

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 40)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 nystagmus 32 HP:0000639
3 intellectual disability 32 HP:0001249
4 seizures 32 occasional (7.5%) HP:0001250
5 ataxia 32 HP:0001251
6 muscular hypotonia 32 HP:0001252
7 coarse facial features 32 HP:0000280
8 microcephaly 32 HP:0000252
9 brachycephaly 32 HP:0000248
10 intellectual disability, severe 32 HP:0010864
11 prominent forehead 32 HP:0011220
12 thick lower lip vermilion 32 HP:0000179
13 strabismus 32 occasional (7.5%) HP:0000486
14 platyspondyly 32 HP:0000926
15 epicanthus 32 HP:0000286
16 carpal bone hypoplasia 32 HP:0001498
17 low posterior hairline 32 HP:0002162
18 abnormality of the pinna 32 HP:0000377
19 ventriculomegaly 32 occasional (7.5%) HP:0002119
20 joint laxity 32 occasional (7.5%) HP:0001388
21 low anterior hairline 32 HP:0000294
22 flat acetabular roof 32 HP:0003180
23 synophrys 32 HP:0000664
24 wide nose 32 HP:0000445
25 narrow iliac wings 32 HP:0002868
26 generalized hypotonia 32 HP:0001290
27 hypoplasia of the corpus callosum 32 occasional (7.5%) HP:0002079
28 abnormality of the skin 32 HP:0000951
29 cerebral atrophy 32 HP:0002059
30 hirsutism 32 HP:0001007
31 long fibula 32 HP:0003085
32 irregular vertebral endplates 32 HP:0003301
33 small epiphyses 32 HP:0010585
34 irregular epiphyses 32 HP:0010582
35 short femoral neck 32 HP:0100864
36 flared metaphysis 32 HP:0003015
37 posterior scalloping of vertebral bodies 32 HP:0005121
38 metaphyseal irregularity 32 HP:0003025
39 spondyloepimetaphyseal dysplasia 32 HP:0002651
40 small basal ganglia 32 occasional (7.5%) HP:0012697

Drugs & Therapeutics for Spondyloepimetaphyseal Dysplasia, Genevieve Type

Drugs for Spondyloepimetaphyseal Dysplasia, Genevieve Type (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Azacitidine Approved, Investigational Not Applicable 320-67-2 9444

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Sialic Acid Supplementation in N-Acetylneuraminic Acid Synthase (NANS) Deficiency Completed 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 rs127726356
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 rs102402572
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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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