SMDMDM
MCID: SPN415
MIFTS: 24

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 57 37 29 6
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 57 74
Smdmdm 57 74
Autosomal Recessive Spondylometaphyseal Dysplasia, Megarbane Type 59
Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type 40
Chondrodysplasia, Megarbane-Dagher-Melike Type 74
Chondrodysplasia, Megarbane-Dagher-Melki Type 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spondylometaphyseal dysplasia, megarbane type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: early childhood,infantile;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
bone abnormalities improve with age
reduced longevity
two consanguineous lebanese families have been reported (last curated march 2015)


HPO:

32
spondylometaphyseal dysplasia, megarbane-dagher-melki type:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 613320
KEGG 37 H01830
MeSH 44 D010009
ICD10 via Orphanet 34 Q77.8
UMLS via Orphanet 73 C2750075
Orphanet 59 ORPHA401979
MedGen 42 C2750075

Summaries for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

KEGG : 37
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 related phenotypes are low-set ears and short neck

UniProtKB/Swiss-Prot : 74 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:

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

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears
small ears

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

Head And Neck Head:
prominent forehead
large fontanelles

Skeletal Skull:
wormian bones

Head And Neck Mouth:
deep philtrum

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

Skeletal Limbs:
metaphyseal cupping
short limbs
short long bones
bowed femora
slight widening of the distal femoral metaphyses
more
Neurologic Central Nervous System:
developmental delay
axial hypotonia

Abdomen External Features:
prominent abdomen

Growth Height:
short stature, pre- and postnatal

Head And Neck Neck:
short neck

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

Chest External Features:
narrow chest
bell-shaped thorax

Head And Neck Face:
round face

Respiratory:
tachypnea

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

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:

41
Bone

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. 8 71
27354339 2016
2
The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia. 8 71
24786642 2014
3
A second family with autosomal recessive spondylometaphyseal dysplasia and early death. 8
24458487 2014
4
Sib pair with previously unreported skeletal dysplasia. 8
18925669 2008

Variations for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 PAM16 NM_016069.11(PAM16): c.226A> G (p.Asn76Asp) single nucleotide variant Pathogenic rs786203989 16:4390986-4390986 16:4340985-4340985
2 PAM16 NM_016069.11(PAM16): c.221A> C (p.Gln74Pro) single nucleotide variant Pathogenic 16:4391373-4391373 16:4341372-4341372
3 PAM16 NM_016069.11(PAM16): c.112C> G (p.Arg38Gly) single nucleotide variant not provided 16:4391482-4391482 16:4341481-4341481

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

74
# 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 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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