SMMD
MCID: SPN208
MIFTS: 28

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 56 58 73 36 29 13 6 39 71
Smmd 56 73

Characteristics:

Orphanet epidemiological data:

58
spondylo-megaepiphyseal-metaphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
mutations result in inactivation of nkx3-2


HPO:

31
spondylo-megaepiphyseal-metaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


External Ids:

OMIM 56 613330
KEGG 36 H00863
MeSH 43 D001848
ICD10 via Orphanet 33 Q77.7
UMLS via Orphanet 72 C2750066
Orphanet 58 ORPHA228387
MedGen 41 C2750066
UMLS 71 C2750066

Summaries for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

OMIM : 56 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

KEGG : 36 Spondylo-megaepiphyseal-metaphyseal dysplasia is a rare skeletal dysplasia. Its features are disproportionate short stature. On radiograph, defective ossification of vertebral bodies, enlarged epiphyses, and metaphyseal dysplasia are noted. It is inherited as an autosomal recessive trait.

UniProtKB/Swiss-Prot : 73 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 10.7
3 cleidocranial dysplasia spectrum disorder 10.7
4 duodenal atresia 10.5
5 otospondylomegaepiphyseal dysplasia 10.5
6 respiratory failure 10.5
7 clubfoot 10.5
8 dysostosis 10.5
9 skeletal dysplasias 10.5
10 spasticity 10.5

Graphical network of the top 20 diseases related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:



Diseases related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Symptoms & Phenotypes for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Human phenotypes related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 31 HP:0000256
2 hypertelorism 31 HP:0000316
3 short neck 31 HP:0000470
4 genu valgum 31 HP:0002857
5 flexion contracture 31 HP:0001371
6 disproportionate short-trunk short stature 31 HP:0003521
7 genu varum 31 HP:0002970
8 coxa vara 31 HP:0002812
9 metaphyseal dysplasia 31 HP:0100255
10 hypoplastic ilia 31 HP:0000946
11 short ribs 31 HP:0000773
12 protuberant abdomen 31 HP:0001538
13 delayed pubic bone ossification 31 HP:0008788
14 enlarged epiphyses 31 HP:0010580
15 metaphyseal irregularity 31 HP:0003025
16 abnormality of the epididymis 31 HP:0009714
17 pseudoepiphyses of hand bones 31 HP:0004288
18 abnormally ossified vertebrae 31 HP:0100569

Symptoms via clinical synopsis from OMIM:

56
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 29 NKX3-2

Anatomical Context for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

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

40
Bone

Publications for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Articles related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

# Title Authors PMID Year
1
A novel NKX3-2 mutation associated with perinatal lethal phenotype of spondylo-megaepiphyseal-metaphyseal dysplasia in a neonate. 61 6 56
29704686 2019
2
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. 61 6 56
20004766 2009
3
Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia. 56 61
13680008 2003
4
Spondylo-megaepiphyseal-metaphyseal dysplasia: a new bone dysplasia resembling cleidocranial dysplasia. 56 61
3925497 1985
5
Structure-Activity Relationship and Mode of Action of a Frog Secreted Antibacterial Peptide B1CTcu5 Using Synthetically and Modularly Modified or Deleted (SMMD) Peptides. 61
25997127 2015
6
The role of Nkx3.2 in chondrogenesis. 61
27158253 2014
7
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. 61
22791571 2012
8
Success factors for telehealth--a case study. 61
16388982 2006
9
A novel method of identifying genetic mutations using an electrochemical DNA array. 61
15498924 2004

Variations for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

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

6 ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKX3-2 NM_001189.4(NKX3-2):c.337dup (p.Ala113fs)duplication Pathogenic 7491 rs606231352 4:13545702-13545702 4:13544078-13544078
2 NKX3-2 NM_001189.4(NKX3-2):c.336_337delinsT (p.Ala113fs)indel Pathogenic 7492 rs606231353 4:13545702-13545703 4:13544078-13544079
3 NKX3-2 NM_001189.4(NKX3-2):c.97_103CGCCCGG[1] (p.Ala35fs)short repeat Pathogenic 7493 rs606231354 4:13545929-13545935 4:13544305-13544311
4 NKX3-2 NM_001189.4(NKX3-2):c.507_508del (p.Gly171fs)deletion Pathogenic/Likely pathogenic 522597 rs1560165127 4:13544111-13544112 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
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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