MCID: SPN208
MIFTS: 23

Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

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

Aliases & Classifications for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

MalaCards integrated aliases for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

Name: Spondylo-Megaepiphyseal-Metaphyseal Dysplasia 57 59 75 37 29 13 6 40 73
Smmd 57 75

Characteristics:

Orphanet epidemiological data:

59
spondylo-megaepiphyseal-metaphyseal dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
mutations result in inactivation of nkx3-2


HPO:

32
spondylo-megaepiphyseal-metaphyseal dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613330
Orphanet 59 ORPHA228387
ICD10 via Orphanet 34 Q77.7
UMLS via Orphanet 74 C2750066
MedGen 42 C2750066
MeSH 44 D001848
KEGG 37 H00863
UMLS 73 C2750066

Summaries for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

OMIM : 57 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 : 75 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 10.7
2 cleidocranial dysplasia 10.4
3 cervicitis 10.4

Symptoms & Phenotypes for Spondylo-Megaepiphyseal-Metaphyseal Dysplasia

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Spondylo-Megaepiphyseal-Metaphyseal Dysplasia:

32 (show all 18)
# Description HPO Frequency HPO Source Accession
1 macrocephaly 32 HP:0000256
2 hypertelorism 32 HP:0000316
3 short neck 32 HP:0000470
4 genu valgum 32 HP:0002857
5 flexion contracture 32 HP:0001371
6 disproportionate short-trunk short stature 32 HP:0003521
7 genu varum 32 HP:0002970
8 coxa vara 32 HP:0002812
9 abnormal vertebral ossification 32 HP:0100569
10 metaphyseal dysplasia 32 HP:0100255
11 hypoplastic ilia 32 HP:0000946
12 short ribs 32 HP:0000773
13 protuberant abdomen 32 HP:0001538
14 delayed pubic bone ossification 32 HP:0008788
15 enlarged epiphyses 32 HP:0010580
16 metaphyseal irregularity 32 HP:0003025
17 abnormality of the epididymis 32 HP:0009714
18 pseudoepiphyses of hand bones 32 HP:0004288

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:

41
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
Severe neurologic manifestations from cervical spine instability in spondylo-megaepiphyseal-metaphyseal dysplasia. ( 22791571 )
2012
3
Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia. ( 20004766 )
2009
4
Spondylo-megaepiphyseal-metaphyseal dysplasia: an unusual bone dysplasia. ( 13680008 )
2003
5
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

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
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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31 HMDB
32 HPO
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62 PubMed
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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
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74 UMLS via Orphanet
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