SMDMDM
MCID: SPN415
MIFTS: 26

Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type (SMDMDM)

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

Aliases & Classifications for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

MalaCards integrated aliases for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type:

Name: Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 56 36 29 6
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 56 73
Smdmdm 56 73
Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type 58
Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type 39
Chondrodysplasia, Megarbane-Dagher-Melike Type 73
Chondrodysplasia, Megarbane-Dagher-Melki Type 56

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive spondylometaphyseal dysplasia, megarbane type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: early childhood,infantile;

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
bone abnormalities improve with age
reduced longevity
one 5-year-old boy with a milder phenotype did not have cardiomyopathy


HPO:

31
spondylometaphyseal dysplasia, megarbane-dagher-melki type:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

KEGG : 36 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type (SMDMDM) is a rare, autosomal-recessive lethal skeletal dysplasia characterized pre and postnatal growth retardation, developmental delay, large anterior fontanel, prominent forehead, low-set ears, depressed nasal bridge, short nose, anteverted nares, increased nasal width, prominent abdomen, and short limbs. A homozygous mutation in MAGMAS (Mitochondria-associated granulocyte macrophage colony stimulating factor-signaling molecule), also referred to as PAM16, is identified from patients of this disease.

MalaCards based summary : Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type, is also known as spondylometaphyseal dysplasia, megarbane-dagher-melike type. An important gene associated with Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type is PAM16 (Presequence Translocase Associated Motor 16). Affiliated tissues include bone and tongue, and related phenotypes are low-set ears and short neck

UniProtKB/Swiss-Prot : 73 Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type: An autosomal recessive disease characterized by pre- and postnatal short stature, developmental delay, dysmorphic facial appearance, narrow chest, prominent abdomen, platyspondyly, and short limbs.

More information from OMIM: 613320

Related Diseases for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Symptoms & Phenotypes for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Human phenotypes related to Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 short neck 31 HP:0000470
3 frontal bossing 31 HP:0002007
4 hypertension 31 HP:0000822
5 global developmental delay 31 HP:0001263
6 delayed skeletal maturation 31 HP:0002750
7 depressed nasal bridge 31 HP:0005280
8 short nose 31 HP:0003196
9 microtia 31 HP:0008551
10 short stature 31 HP:0004322
11 anteverted nares 31 HP:0000463
12 cardiomegaly 31 HP:0001640
13 prominent forehead 31 HP:0011220
14 pulmonary arterial hypertension 31 HP:0002092
15 narrow chest 31 HP:0000774
16 micromelia 31 HP:0002983
17 short long bone 31 HP:0003026
18 wormian bones 31 HP:0002645
19 deep philtrum 31 HP:0002002
20 round face 31 HP:0000311
21 wide nose 31 HP:0000445
22 large fontanelles 31 HP:0000239
23 hypokinesia 31 HP:0002375
24 spondylometaphyseal dysplasia 31 HP:0002657
25 tachypnea 31 HP:0002789
26 hypoplastic ischia 31 HP:0003175
27 squared iliac bones 31 HP:0003177
28 bell-shaped thorax 31 HP:0001591
29 small for gestational age 31 HP:0001518
30 muscular hypotonia of the trunk 31 HP:0008936
31 short ribs 31 HP:0000773
32 severe platyspondyly 31 HP:0004565
33 metaphyseal cupping 31 HP:0003021
34 iliac crest serration 31 HP:0008786
35 dilatation 31 HP:0002617
36 dysplastic sacrum 31 HP:0008455

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
macrocephaly
frontal bossing
prominent forehead
large fontanelles

Head And Neck Neck:
short neck

Head And Neck Nose:
depressed nasal bridge
short nose
anteverted nares
wide nostrils
increased nasal width

Chest External Features:
narrow chest
bell-shaped thorax

Head And Neck Mouth:
deep philtrum
prominent tongue

Respiratory:
tachypnea

Chest Ribs Sternum Clavicles And Scapulae:
short ribs
cupped end ribs

Skeletal Limbs:
metaphyseal cupping
short limbs
short long bones
bowed femora
slight widening of the distal femoral metaphyses
more
Abdomen External Features:
prominent abdomen

Growth Height:
short stature, pre- and postnatal

Head And Neck Ears:
low-set ears
small ears
hearing loss, conductive (in one patient)

Neurologic Central Nervous System:
global developmental delay
developmental delay
axial hypotonia
poor speech development

Cardiovascular Heart:
cardiomegaly
pulmonary hypertension
global left ventricular hypokinesia
right atrium dilatation

Skeletal Skull:
wormian bones

Head And Neck Face:
round face

Skeletal Pelvis:
hypoplastic ischia
square iliac bones
horizontal acetabula with medial and lateral spurs
lacy appearance of iliac crest
trident acetabula

Skeletal Spine:
severe platyspondyly
slightly ovoid vertebrae
partial sacral agenesis
decrease in interpedicular distance in the lumbar vertebrae

Skeletal:
delayed bone age

Growth Weight:
low birth weight

Clinical features from OMIM:

613320

Drugs & Therapeutics for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Search Clinical Trials , NIH Clinical Center for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Genetic Tests for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Genetic tests related to Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type:

# Genetic test Affiliating Genes
1 Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type 29 PAM16

Anatomical Context for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

MalaCards organs/tissues related to Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type:

40
Bone, Tongue

Publications for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Articles related to Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type:

# Title Authors PMID Year
1
A novel homozygous PAM16 mutation in a patient with a milder phenotype and longer survival. 56 6
27354339 2016
2
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. 56 6
24786642 2014
3
A second family with autosomal recessive spondylometaphyseal dysplasia and early death. 56
24458487 2014
4
Sib pair with previously unreported skeletal dysplasia. 56
18925669 2008

Variations for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

ClinVar genetic disease variations for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PAM16 NM_016069.11(PAM16):c.226A>G (p.Asn76Asp)SNV Pathogenic 187811 rs786203989 16:4390986-4390986 16:4340985-4340985
2 PAM16 NM_016069.11(PAM16):c.221A>C (p.Gln74Pro)SNV Pathogenic 636277 16:4391373-4391373 16:4341372-4341372
3 PAM16 NM_016069.11(PAM16):c.112C>G (p.Arg38Gly)SNV not provided 585054 rs1314983113 16:4391482-4391482 16:4341481-4341481

UniProtKB/Swiss-Prot genetic disease variations for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type:

73
# Symbol AA change Variation ID SNP ID
1 PAM16 p.Asn76Asp VAR_073419 rs786203989

Expression for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Search GEO for disease gene expression data for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type.

Pathways for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

GO Terms for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Sources for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

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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