SMMD
MCID: SPN208
MIFTS: 23

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia (SMMD)

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

Aliases & Classifications for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

MalaCards integrated aliases for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

Name: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 58 60 76 38 30 13 6 41 74
Smmd 58 76

Characteristics:

Orphanet epidemiological data:

60
spondylo-megaepiphyseal-metaphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
mutations result in inactivation of nkx3-2


HPO:

33
spondylo-megaepiphyseal-metaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 58 613330
KEGG 38 H00863
MeSH 45 D001848
ICD10 via Orphanet 35 Q77.7
UMLS via Orphanet 75 C2750066
Orphanet 60 ORPHA228387
MedGen 43 C2750066
UMLS 74 C2750066

Summaries for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

OMIM : 58 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk; relatively long limbs that may show flexion contractures of the distal joints; delayed and impaired ossification of the vertebral bodies and the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones; and numerous pseudoepiphyses of the short tubular bones in hands and feet (summary by Hellemans et al., 2009). (613330)

MalaCards based summary : Spondylo-Megaepiphyseal-Metaphyseal Dysplasia, also known as smmd, is related to pyle disease and cleidocranial dysplasia. An important gene associated with Spondylo-Megaepiphyseal-Metaphyseal Dysplasia is NKX3-2 (NK3 Homeobox 2). Affiliated tissues include bone, and related phenotypes are macrocephaly and hypertelorism

UniProtKB/Swiss-Prot : 76 Spondylo-megaepiphyseal-metaphyseal dysplasia: A skeletal dysplasia characterized by disproportionate short stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral bodies, the presence of large epiphyseal ossification centers and wide growth plates in the long tubular bones, and numerous pseudoepiphyses of the short tubular bones in hands and feet.

Related Diseases for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Diseases related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 pyle disease 10.9
2 cleidocranial dysplasia 10.5

Symptoms & Phenotypes for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Human phenotypes related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

33 (show all 18)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 33 HP:0000256
2 hypertelorism 33 HP:0000316
3 short neck 33 HP:0000470
4 genu valgum 33 HP:0002857
5 flexion contracture 33 HP:0001371
6 disproportionate short-trunk short stature 33 HP:0003521
7 genu varum 33 HP:0002970
8 coxa vara 33 HP:0002812
9 metaphyseal dysplasia 33 HP:0100255
10 hypoplastic ilia 33 HP:0000946
11 short ribs 33 HP:0000773
12 protuberant abdomen 33 HP:0001538
13 delayed pubic bone ossification 33 HP:0008788
14 enlarged epiphyses 33 HP:0010580
15 metaphyseal irregularity 33 HP:0003025
16 abnormality of the epididymis 33 HP:0009714
17 pseudoepiphyses of hand bones 33 HP:0004288
18 abnormally ossified vertebrae 33 HP:0100569

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Head:
macrocephaly

Head And Neck Neck:
short neck
limited mobility

Growth Height:
short stature

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
ribs are widely separated from vertebral column

Skeletal Hands:
delayed carpal bone ossification
pseudoepiphyses in metacarpal bones

Skeletal Spine:
absent vertebral body ossification

Head And Neck Eyes:
hypertelorism

Skeletal Limbs:
genu valgum
genu varum
pseudoepiphyses
contractures
irregular metaphyses
more
Skeletal Pelvis:
coxa vara
hypoplastic ilia
delayed pubic bone ossification
widened triradiate cartilage
large capital femoral epiphyses

Skeletal Feet:
pseudoepiphyses

Abdomen External Features:
protuberant abdomen (secondary to skeletal dysplasia)

Clinical features from OMIM:

613330

Drugs & Therapeutics for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Search Clinical Trials , NIH Clinical Center for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Genetic Tests for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Genetic tests related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

# Genetic test Affiliating Genes
1 Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 30 NKX3-2

Anatomical Context for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

MalaCards organs/tissues related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

42
Bone

Publications for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Articles related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

# Title Authors Year
1
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. ( 29704686 )
2018
2
Structure-Activity Relationship and Mode of Action of a Frog Secreted Antibacterial Peptide B1CTcu5 Using Synthetically and Modularly Modified or Deleted (SMMD) Peptides. ( 25997127 )
2015
3
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. ( 22791571 )
2012
4
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. ( 20004766 )
2009
5
Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia. ( 13680008 )
2003
6
Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia. ( 3925497 )
1985

Variations for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

ClinVar genetic disease variations for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 NKX3-2 NM_001189.3(NKX3-2): c.337dupG (p.Ala113Glyfs) duplication Pathogenic rs606231352 GRCh38 Chromosome 4, 13544078: 13544078
2 NKX3-2 NM_001189.3(NKX3-2): c.337dupG (p.Ala113Glyfs) duplication Pathogenic rs606231352 GRCh37 Chromosome 4, 13545702: 13545702
3 NKX3-2 NM_001189.3(NKX3-2): c.336_337delGGinsT (p.Ala113Profs) indel Pathogenic rs606231353 GRCh38 Chromosome 4, 13544078: 13544079
4 NKX3-2 NM_001189.3(NKX3-2): c.336_337delGGinsT (p.Ala113Profs) indel Pathogenic rs606231353 GRCh37 Chromosome 4, 13545702: 13545703
5 NKX3-2 NM_001189.3(NKX3-2): c.104_110delCGCCCGG (p.Ala35Glyfs) deletion Pathogenic rs606231354 GRCh38 Chromosome 4, 13544305: 13544311
6 NKX3-2 NM_001189.3(NKX3-2): c.104_110delCGCCCGG (p.Ala35Glyfs) deletion Pathogenic rs606231354 GRCh37 Chromosome 4, 13545929: 13545935
7 NKX3-2 NM_001189.3(NKX3-2): c.507_508delCA (p.Gly171Cysfs) deletion Likely pathogenic GRCh37 Chromosome 4, 13544111: 13544112
8 NKX3-2 NM_001189.3(NKX3-2): c.507_508delCA (p.Gly171Cysfs) deletion Likely pathogenic GRCh38 Chromosome 4, 13542487: 13542488

Expression for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Search GEO for disease gene expression data for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia.

Pathways for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

GO Terms for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Sources for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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