MCID: SPN415
MIFTS: 22

Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

Categories: Genetic diseases, Bone diseases, Fetal 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 75
Smdmdm 57 75
Autosomal Recessive Spondylometaphyseal Dysplasia, Mégarbané Type 59
Dysplasia, Spondylometaphyseal, Megarbane-Dagher-Melike Type 40
Chondrodysplasia, Megarbane-Dagher-Melike Type 75
Chondrodysplasia, Megarbane-Dagher-Melki Type 57

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive spondylometaphyseal dysplasia, mégarbané 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:



Summaries for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

UniProtKB/Swiss-Prot : 75 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 large fontanelles and round face

Description from OMIM: 613320

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

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

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
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

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

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

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

Variations for Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type

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

75
# 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
# 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

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 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....