SMDMDM
MCID: SPN415
MIFTS: 22

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 58 38 30 6
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melike Type 58 76
Smdmdm 58 76
Autosomal Recessive Spondylometaphyseal Dysplasia, Mégarbané Type 60
Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type 41
Chondrodysplasia, Megarbane-Dagher-Melike Type 76
Chondrodysplasia, Megarbane-Dagher-Melki Type 58

Characteristics:

Orphanet epidemiological data:

60
autosomal recessive spondylometaphyseal dysplasia, mégarbané type
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: early childhood,infantile;

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
spondylometaphyseal dysplasia, megarbane-dagher-melki type:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

UniProtKB/Swiss-Prot : 76 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.

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

Description 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:

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

Symptoms via clinical synopsis from OMIM:

58
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
Skeletal:
delayed bone age

Growth Weight:
low birth weight

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

Neurologic Central Nervous System:
developmental delay
axial hypotonia

Abdomen External Features:
prominent abdomen

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

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 30 PAM16

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

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

42
Bone

Publications for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Variations for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

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

76 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 PAM16 p.Asn76Asp VAR_073419 rs786203989

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

6 (showing 4, show less)
# Gene Variation Type Significance SNP ID Assembly Location
1 PAM16 NM_016069.10(PAM16): c.226A> G (p.Asn76Asp) single nucleotide variant Pathogenic rs786203989 GRCh38 Chromosome 16, 4340985: 4340985
2 PAM16 NM_016069.10(PAM16): c.226A> G (p.Asn76Asp) single nucleotide variant Pathogenic rs786203989 GRCh37 Chromosome 16, 4390986: 4390986
3 PAM16 NM_016069.10(PAM16): c.112C> G (p.Arg38Gly) single nucleotide variant not provided GRCh38 Chromosome 16, 4341481: 4341481
4 PAM16 NM_016069.10(PAM16): c.112C> G (p.Arg38Gly) single nucleotide variant not provided GRCh37 Chromosome 16, 4391482: 4391482

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
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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