MCID: SMT022
MIFTS: 35

Smith-Mccort Dysplasia 1

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

Aliases & Classifications for Smith-Mccort Dysplasia 1

MalaCards integrated aliases for Smith-Mccort Dysplasia 1:

Name: Smith-Mccort Dysplasia 1 57 75 29 6 73
Smith-Mccort Dysplasia 57 12 59 75 29 13 6 44 15 73
Smith Mccort Dysplasia 53 40
Smc1 57 75
Smc 57 75
Smith-Mccort Dwarfism 53

Characteristics:

Orphanet epidemiological data:

59
smith-mccort dysplasia
Inheritance: Autosomal recessive;

OMIM:

57
Miscellaneous:
waddling gait
allelic to dyggve-melchior-clausen disease

Inheritance:
autosomal recessive


HPO:

32
smith-mccort dysplasia 1:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 607326
Disease Ontology 12 DOID:0060247
Orphanet 59 ORPHA178355
UMLS via Orphanet 74 C1846431
ICD10 via Orphanet 34 Q77.7

Summaries for Smith-Mccort Dysplasia 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 178355Disease definitionSmith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC; see this term), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC.Visit the Orphanet disease page for more resources.

MalaCards based summary : Smith-Mccort Dysplasia 1, also known as smith-mccort dysplasia, is related to smith-mccort dysplasia 2 and breast cancer, and has symptoms including waddling gait An important gene associated with Smith-Mccort Dysplasia 1 is DYM (Dymeclin). Affiliated tissues include spinal cord and bone, and related phenotypes are microcephaly and dolichocephaly

OMIM : 57 Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest, features identical to those of Dyggve-Melchior-Clausen disease. Spinal cord compression due to atlantoaxial instability occurs in both SMC and DMC (Spranger et al., 1976; Nakamura et al., 1997). (607326)

UniProtKB/Swiss-Prot : 75 Smith-McCort dysplasia 1: A rare autosomal recessive osteochondrodysplasia with skeletal features identical to those of Dyggve-Melchior-Clausen syndrome, but with normal intelligence and no microcephaly. It is characterized by short limbs and trunk with barrel-shaped chest. The radiographic phenotype includes platyspondyly, generalized abnormalities of the epiphyses and metaphyses, and a distinctive lacy appearance of the iliac crest.

Disease Ontology : 12 A Syggve-Melchior-Clausen disease characterized by short limbs and a short trunk with a barrel-shaped chest and has material basis in homozygous or compound heterozygous mutation in the DYM gene on chromosome 18q.

Related Diseases for Smith-Mccort Dysplasia 1

Diseases in the Smith-Mccort Dysplasia 1 family:

Smith-Mccort Dysplasia 2

Diseases related to Smith-Mccort Dysplasia 1 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 smith-mccort dysplasia 2 11.0
2 breast cancer 9.9
3 ataxia-telangiectasia 9.9
4 retinitis pigmentosa 9.9
5 leber congenital amaurosis 4 9.9
6 retinitis 9.9
7 osteochondrodysplasia 9.2 DYM RAB33B

Graphical network of the top 20 diseases related to Smith-Mccort Dysplasia 1:



Diseases related to Smith-Mccort Dysplasia 1

Symptoms & Phenotypes for Smith-Mccort Dysplasia 1

Symptoms via clinical synopsis from OMIM:

57
Skeletal Limbs:
genu valgum
genu varum
irregular epiphyses
irregular metaphyses

Head And Neck Head:
microcephaly
dolichocephaly

Skeletal Hands:
short metacarpals
short phalanges

Growth Height:
short stature, disproportionate (short trunk)

Chest Ribs Sternum Clavicles And Scapulae:
sternal protrusion
short scapulae

Skeletal Spine:
scoliosis
kyphosis
platyspondyly
odontoid hypoplasia
atlantoaxial instability
more
Skeletal Skull:
hypoplastic facial bones
deformed sella turcica
small calvarium

Neurologic Central Nervous System:
normal intelligence

Skeletal Pelvis:
hypoplastic acetabulae
short ischia
lacy iliac crest
wide symphysis pubis
thick femoral neck
more
Chest External Features:
short barrel-shaped chest


Clinical features from OMIM:

607326

Human phenotypes related to Smith-Mccort Dysplasia 1:

32 (show all 24)
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 dolichocephaly 32 HP:0000268
3 hypoplastic scapulae 32 HP:0000882
4 prominent sternum 32 HP:0000884
5 platyspondyly 32 HP:0000926
6 barrel-shaped chest 32 HP:0001552
7 waddling gait 32 HP:0002515
8 scoliosis 32 HP:0002650
9 deformed sella turcica 32 HP:0002681
10 hypoplastic facial bones 32 HP:0002692
11 kyphosis 32 HP:0002808
12 genu valgum 32 HP:0002857
13 genu varum 32 HP:0002970
14 metaphyseal irregularity 32 HP:0003025
15 hypoplastic acetabulae 32 HP:0003274
16 hypoplasia of the odontoid process 32 HP:0003311
17 atlantoaxial instability 32 HP:0003467
18 disproportionate short-trunk short stature 32 HP:0003521
19 beaking of vertebral bodies 32 HP:0004568
20 delayed femoral head ossification 32 HP:0008829
21 multicentric femoral head ossification 32 HP:0008835
22 short phalanx of finger 32 HP:0009803
23 short metacarpal 32 HP:0010049
24 irregular epiphyses 32 HP:0010582

UMLS symptoms related to Smith-Mccort Dysplasia 1:


waddling gait

Drugs & Therapeutics for Smith-Mccort Dysplasia 1

Search Clinical Trials , NIH Clinical Center for Smith-Mccort Dysplasia 1

Cochrane evidence based reviews: smith-mccort dysplasia

Genetic Tests for Smith-Mccort Dysplasia 1

Genetic tests related to Smith-Mccort Dysplasia 1:

# Genetic test Affiliating Genes
1 Smith-Mccort Dysplasia 1 29 DYM
2 Smith-Mccort Dysplasia 29

Anatomical Context for Smith-Mccort Dysplasia 1

MalaCards organs/tissues related to Smith-Mccort Dysplasia 1:

41
Spinal Cord, Bone

Publications for Smith-Mccort Dysplasia 1

Articles related to Smith-Mccort Dysplasia 1:

# Title Authors Year
1
Additional three patients with Smith-McCort dysplasia due to novel RAB33B mutations. ( 28127940 )
2017
2
Anaesthesia and orphan disease: failed airway management in a case of Smith-McCort Dysplasia. ( 24141645 )
2013
3
A novel RAB33B mutation in Smith-McCort dysplasia. ( 23042644 )
2013
4
A 14-year-old girl with Smith-McCort dysplasia misdiagnosed as seronegative juvenile idiopathic arthritis. ( 22709503 )
2012
5
Dyggve-Melchior-Clausen syndrome and Smith-McCort dysplasia: clinical and molecular findings in three families supporting genetic heterogeneity in Smith-McCort dysplasia. ( 16470731 )
2006
6
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia). ( 16206059 )
2005
7
Probable identity-by-descent for a mutation in the Dyggve-Melchior-Clausen/Smith-McCort dysplasia (Dymeclin) gene among patients from Guam, Chile, Argentina, and Spain. ( 16097008 )
2005
8
Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. ( 12161821 )
2002
9
Dyggve-Melchior-Clausen syndrome without mental retardation (Smith-McCort dysplasia): morphological findings in the growth plate of the iliac crest. ( 9295067 )
1997

Variations for Smith-Mccort Dysplasia 1

UniProtKB/Swiss-Prot genetic disease variations for Smith-Mccort Dysplasia 1:

75
# Symbol AA change Variation ID SNP ID
1 DYM p.Glu87Lys VAR_022740 rs120074164
2 DYM p.Cys542Arg VAR_065293 rs120074165

ClinVar genetic disease variations for Smith-Mccort Dysplasia 1:

6
(show top 50) (show all 179)
# Gene Variation Type Significance SNP ID Assembly Location
1 DYM DYM, IVS7AS, A-G, -2 single nucleotide variant Pathogenic
2 DYM NM_017653.4(DYM): c.259G> A (p.Glu87Lys) single nucleotide variant Pathogenic rs120074164 GRCh37 Chromosome 18, 46906063: 46906063
3 DYM NM_017653.4(DYM): c.259G> A (p.Glu87Lys) single nucleotide variant Pathogenic rs120074164 GRCh38 Chromosome 18, 49379693: 49379693
4 DYM NM_017653.3(DYM): c.1624T> C (p.Cys542Arg) single nucleotide variant Pathogenic rs120074165 GRCh37 Chromosome 18, 46645236: 46645236
5 DYM NM_017653.3(DYM): c.1624T> C (p.Cys542Arg) single nucleotide variant Pathogenic rs120074165 GRCh38 Chromosome 18, 49118866: 49118866
6 DYM NM_017653.4(DYM): c.1344A> G (p.Gln448=) single nucleotide variant Uncertain significance rs77902523 GRCh37 Chromosome 18, 46784771: 46784771
7 DYM NM_017653.4(DYM): c.1344A> G (p.Gln448=) single nucleotide variant Uncertain significance rs77902523 GRCh38 Chromosome 18, 49258401: 49258401
8 DYM NM_017653.4(DYM): c.122delT (p.Phe41Serfs) deletion Pathogenic rs794727290 GRCh37 Chromosome 18, 46956643: 46956643
9 DYM NM_017653.4(DYM): c.122delT (p.Phe41Serfs) deletion Pathogenic rs794727290 GRCh38 Chromosome 18, 49430273: 49430273
10 DYM NM_017653.4(DYM): c.1552C> T (p.Leu518=) single nucleotide variant Conflicting interpretations of pathogenicity rs145279594 GRCh37 Chromosome 18, 46690066: 46690066
11 DYM NM_017653.4(DYM): c.1552C> T (p.Leu518=) single nucleotide variant Conflicting interpretations of pathogenicity rs145279594 GRCh38 Chromosome 18, 49163696: 49163696
12 DYM NM_017653.4(DYM): c.1778A> G (p.Gln593Arg) single nucleotide variant Uncertain significance rs146000214 GRCh37 Chromosome 18, 46623854: 46623854
13 DYM NM_017653.4(DYM): c.1778A> G (p.Gln593Arg) single nucleotide variant Uncertain significance rs146000214 GRCh38 Chromosome 18, 49097484: 49097484
14 DYM NM_017653.4(DYM): c.288-10G> A single nucleotide variant Uncertain significance rs557407004 GRCh37 Chromosome 18, 46905080: 46905080
15 DYM NM_017653.4(DYM): c.288-10G> A single nucleotide variant Uncertain significance rs557407004 GRCh38 Chromosome 18, 49378710: 49378710
16 RAB33B NM_031296.2(RAB33B): c.-348G> C single nucleotide variant Uncertain significance rs886059072 GRCh38 Chromosome 4, 139453848: 139453848
17 RAB33B NM_031296.2(RAB33B): c.-348G> C single nucleotide variant Uncertain significance rs886059072 GRCh37 Chromosome 4, 140375002: 140375002
18 RAB33B NM_031296.2(RAB33B): c.-205G> C single nucleotide variant Benign rs13126617 GRCh38 Chromosome 4, 139453991: 139453991
19 RAB33B NM_031296.2(RAB33B): c.-205G> C single nucleotide variant Benign rs13126617 GRCh37 Chromosome 4, 140375145: 140375145
20 RAB33B NM_031296.2(RAB33B): c.-193G> T single nucleotide variant Uncertain significance rs886059075 GRCh38 Chromosome 4, 139454003: 139454003
21 RAB33B NM_031296.2(RAB33B): c.-193G> T single nucleotide variant Uncertain significance rs886059075 GRCh37 Chromosome 4, 140375157: 140375157
22 RAB33B NM_031296.2(RAB33B): c.-167A> C single nucleotide variant Uncertain significance rs190790812 GRCh38 Chromosome 4, 139454029: 139454029
23 RAB33B NM_031296.2(RAB33B): c.-167A> C single nucleotide variant Uncertain significance rs190790812 GRCh37 Chromosome 4, 140375183: 140375183
24 RAB33B NM_031296.2(RAB33B): c.-54C> G single nucleotide variant Benign rs13128486 GRCh38 Chromosome 4, 139454142: 139454142
25 RAB33B NM_031296.2(RAB33B): c.-54C> G single nucleotide variant Benign rs13128486 GRCh37 Chromosome 4, 140375296: 140375296
26 RAB33B NM_031296.2(RAB33B): c.-48C> T single nucleotide variant Uncertain significance rs748718122 GRCh37 Chromosome 4, 140375302: 140375302
27 RAB33B NM_031296.2(RAB33B): c.-48C> T single nucleotide variant Uncertain significance rs748718122 GRCh38 Chromosome 4, 139454148: 139454148
28 RAB33B NM_031296.2(RAB33B): c.*595G> A single nucleotide variant Likely benign rs13137997 GRCh38 Chromosome 4, 139473721: 139473721
29 RAB33B NM_031296.2(RAB33B): c.*595G> A single nucleotide variant Likely benign rs13137997 GRCh37 Chromosome 4, 140394875: 140394875
30 RAB33B NM_031296.2(RAB33B): c.*701G> T single nucleotide variant Uncertain significance rs187434569 GRCh38 Chromosome 4, 139473827: 139473827
31 RAB33B NM_031296.2(RAB33B): c.*701G> T single nucleotide variant Uncertain significance rs187434569 GRCh37 Chromosome 4, 140394981: 140394981
32 RAB33B NM_031296.2(RAB33B): c.*764G> A single nucleotide variant Uncertain significance rs886059081 GRCh38 Chromosome 4, 139473890: 139473890
33 RAB33B NM_031296.2(RAB33B): c.*764G> A single nucleotide variant Uncertain significance rs886059081 GRCh37 Chromosome 4, 140395044: 140395044
34 RAB33B NM_031296.2(RAB33B): c.*776C> T single nucleotide variant Uncertain significance rs77490600 GRCh38 Chromosome 4, 139473902: 139473902
35 RAB33B NM_031296.2(RAB33B): c.*776C> T single nucleotide variant Uncertain significance rs77490600 GRCh37 Chromosome 4, 140395056: 140395056
36 RAB33B NM_031296.2(RAB33B): c.*796_*797delTT deletion Uncertain significance rs10604111 GRCh38 Chromosome 4, 139473922: 139473923
37 RAB33B NM_031296.2(RAB33B): c.*796_*797delTT deletion Uncertain significance rs10604111 GRCh37 Chromosome 4, 140395076: 140395077
38 RAB33B NM_031296.2(RAB33B): c.*1077G> A single nucleotide variant Likely benign rs115582784 GRCh38 Chromosome 4, 139474203: 139474203
39 RAB33B NM_031296.2(RAB33B): c.*1077G> A single nucleotide variant Likely benign rs115582784 GRCh37 Chromosome 4, 140395357: 140395357
40 RAB33B NM_031296.2(RAB33B): c.*1303C> T single nucleotide variant Benign rs4074940 GRCh38 Chromosome 4, 139474429: 139474429
41 RAB33B NM_031296.2(RAB33B): c.*1303C> T single nucleotide variant Benign rs4074940 GRCh37 Chromosome 4, 140395583: 140395583
42 RAB33B NM_031296.2(RAB33B): c.*1310G> A single nucleotide variant Uncertain significance rs886059082 GRCh38 Chromosome 4, 139474436: 139474436
43 RAB33B NM_031296.2(RAB33B): c.*1310G> A single nucleotide variant Uncertain significance rs886059082 GRCh37 Chromosome 4, 140395590: 140395590
44 RAB33B NM_031296.2(RAB33B): c.*1403C> A single nucleotide variant Likely benign rs75661332 GRCh38 Chromosome 4, 139474529: 139474529
45 RAB33B NM_031296.2(RAB33B): c.*1403C> A single nucleotide variant Likely benign rs75661332 GRCh37 Chromosome 4, 140395683: 140395683
46 RAB33B NM_031296.2(RAB33B): c.*1819A> G single nucleotide variant Uncertain significance rs557693738 GRCh38 Chromosome 4, 139474945: 139474945
47 RAB33B NM_031296.2(RAB33B): c.*1819A> G single nucleotide variant Uncertain significance rs557693738 GRCh37 Chromosome 4, 140396099: 140396099
48 RAB33B NM_031296.2(RAB33B): c.*2599A> G single nucleotide variant Uncertain significance rs886059085 GRCh38 Chromosome 4, 139475725: 139475725
49 RAB33B NM_031296.2(RAB33B): c.*2599A> G single nucleotide variant Uncertain significance rs886059085 GRCh37 Chromosome 4, 140396879: 140396879
50 RAB33B NM_031296.2(RAB33B): c.-36C> T single nucleotide variant Likely benign rs182647425 GRCh38 Chromosome 4, 139454160: 139454160

Expression for Smith-Mccort Dysplasia 1

Search GEO for disease gene expression data for Smith-Mccort Dysplasia 1.

Pathways for Smith-Mccort Dysplasia 1

GO Terms for Smith-Mccort Dysplasia 1

Cellular components related to Smith-Mccort Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 trans-Golgi network GO:0005802 9.16 FURIN GOLPH3
2 Golgi lumen GO:0005796 8.96 FURIN RAB33B
3 Golgi apparatus GO:0005794 8.92 DYM FURIN GOLPH3 RAB33B

Biological processes related to Smith-Mccort Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cell proliferation GO:0008283 8.96 FURIN GOLPH3
2 Golgi organization GO:0007030 8.62 DYM GOLPH3

Molecular functions related to Smith-Mccort Dysplasia 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 enzyme binding GO:0019899 8.62 DYM GOLPH3

Sources for Smith-Mccort Dysplasia 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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44 MeSH
45 MESH via Orphanet
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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
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