MCID: SMT018
MIFTS: 23

Smith-Mccort Dysplasia 2

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

Aliases & Classifications for Smith-Mccort Dysplasia 2

MalaCards integrated aliases for Smith-Mccort Dysplasia 2:

Name: Smith-Mccort Dysplasia 2 57 75 29 13 6 73
Smc2 57 75
Dysplasia, Smith-Mccort, Type 2 40

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
smith-mccort dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Smith-Mccort Dysplasia 2

OMIM : 57 Smith-McCort dysplasia is a rare autosomal recessive osteochondrodysplasia characterized by short trunk dwarfism with a barrel-shaped chest, rhizomelic limb shortening, and specific radiologic features including marked platyspondyly with double-humped end-plates, kyphoscoliosis, metaphyseal irregularities, laterally displaced capital femoral epiphyses, and small pelvis with a lace-like appearance of iliac crests. These clinical and radiologic features are also common to Dyggve-Melchior-Clausen syndrome (DMC; 223800), which is distinguished from SMC by the additional feature of mental retardation (summary by Dupuis et al., 2013). For a discussion of genetic heterogeneity of Smith-McCort dysplasia, see SMC1 (607326). (615222)

MalaCards based summary : Smith-Mccort Dysplasia 2, also known as smc2, is related to cornelia de lange syndrome and pleural empyema. An important gene associated with Smith-Mccort Dysplasia 2 is RAB33B (RAB33B, Member RAS Oncogene Family). Affiliated tissues include bone, and related phenotypes are short neck and pectus carinatum

UniProtKB/Swiss-Prot : 75 Smith-McCort dysplasia 2: 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.

Related Diseases for Smith-Mccort Dysplasia 2

Diseases in the Smith-Mccort Dysplasia 1 family:

Smith-Mccort Dysplasia 2

Diseases related to Smith-Mccort Dysplasia 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 cornelia de lange syndrome 11.0
2 pleural empyema 11.0
3 colorectal cancer 9.9
4 neuroblastoma 9.9

Symptoms & Phenotypes for Smith-Mccort Dysplasia 2

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum

Skeletal Spine:
platyspondyly
exaggerated lordosis
posterior double humps of vertebral body
irregular surface of iliac spine
odontoid hypoplasia, mild

Skeletal Feet:
flat feet
short phalanges
broad phalanges
prominent heels
short metatarsal bones
more
Growth Weight:
low weight

Skeletal Limbs:
genu valgum
flattened femoral heads
elevated shoulder joints
limited extension of elbow joints
broad femoral neck, mild
more
Growth Height:
short stature

Chest External Features:
barrel-shaped chest
short trunk

Skeletal Hands:
short phalanges
broad phalanges
short metacarpal bones
broad metacarpal bones
broad interphalangeal joints


Clinical features from OMIM:

615222

Human phenotypes related to Smith-Mccort Dysplasia 2:

32 (show all 15)
# Description HPO Frequency HPO Source Accession
1 short neck 32 HP:0000470
2 pectus carinatum 32 HP:0000768
3 platyspondyly 32 HP:0000926
4 barrel-shaped chest 32 HP:0001552
5 pes planus 32 HP:0001763
6 genu valgum 32 HP:0002857
7 hypoplasia of the odontoid process 32 HP:0003311
8 disproportionate short-trunk short stature 32 HP:0003521
9 decreased body weight 32 HP:0004325
10 broad phalanx 32 HP:0006009
11 broad femoral neck 32 HP:0006429
12 flattened femoral head 32 HP:0008812
13 short phalanx of finger 32 HP:0009803
14 short metacarpal 32 HP:0010049
15 short metatarsal 32 HP:0010743

Drugs & Therapeutics for Smith-Mccort Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Smith-Mccort Dysplasia 2

Genetic Tests for Smith-Mccort Dysplasia 2

Genetic tests related to Smith-Mccort Dysplasia 2:

# Genetic test Affiliating Genes
1 Smith-Mccort Dysplasia 2 29 RAB33B

Anatomical Context for Smith-Mccort Dysplasia 2

MalaCards organs/tissues related to Smith-Mccort Dysplasia 2:

41
Bone

Publications for Smith-Mccort Dysplasia 2

Variations for Smith-Mccort Dysplasia 2

UniProtKB/Swiss-Prot genetic disease variations for Smith-Mccort Dysplasia 2:

75
# Symbol AA change Variation ID SNP ID
1 RAB33B p.Lys46Gln VAR_068854 rs587776958
2 RAB33B p.Asn148Lys VAR_068855 rs886044716

ClinVar genetic disease variations for Smith-Mccort Dysplasia 2:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 RAB33B NM_031296.2(RAB33B): c.136A> C (p.Lys46Gln) single nucleotide variant Pathogenic rs587776958 GRCh37 Chromosome 4, 140375485: 140375485
2 RAB33B NM_031296.2(RAB33B): c.136A> C (p.Lys46Gln) single nucleotide variant Pathogenic rs587776958 GRCh38 Chromosome 4, 139454331: 139454331
3 RAB33B NM_031296.2(RAB33B): c.444T> A (p.Asn148Lys) single nucleotide variant Pathogenic rs886044716 GRCh37 Chromosome 4, 140394034: 140394034
4 RAB33B NM_031296.2(RAB33B): c.444T> A (p.Asn148Lys) single nucleotide variant Pathogenic rs886044716 GRCh38 Chromosome 4, 139472880: 139472880
5 RAB33B NM_031296.2(RAB33B): c.211C> T (p.Arg71Ter) single nucleotide variant Pathogenic rs1085307128 GRCh38 Chromosome 4, 139454406: 139454406
6 RAB33B NM_031296.2(RAB33B): c.211C> T (p.Arg71Ter) single nucleotide variant Pathogenic rs1085307128 GRCh37 Chromosome 4, 140375560: 140375560
7 RAB33B NM_031296.2(RAB33B): c.365T> C (p.Phe122Ser) single nucleotide variant Pathogenic rs1085307129 GRCh37 Chromosome 4, 140393955: 140393955
8 RAB33B NM_031296.2(RAB33B): c.365T> C (p.Phe122Ser) single nucleotide variant Pathogenic rs1085307129 GRCh38 Chromosome 4, 139472801: 139472801
9 RAB33B NM_031296.2(RAB33B): c.48_55delCGGGGCAG (p.Gly17Valfs) deletion Pathogenic rs1085307130 GRCh38 Chromosome 4, 139454243: 139454250
10 RAB33B NM_031296.2(RAB33B): c.48_55delCGGGGCAG (p.Gly17Valfs) deletion Pathogenic rs1085307130 GRCh37 Chromosome 4, 140375397: 140375404
11 RAB33B NM_031296.2(RAB33B): c.490C> T (p.Gln164Ter) single nucleotide variant Pathogenic rs1085307131 GRCh38 Chromosome 4, 139472926: 139472926
12 RAB33B NM_031296.2(RAB33B): c.490C> T (p.Gln164Ter) single nucleotide variant Pathogenic rs1085307131 GRCh37 Chromosome 4, 140394080: 140394080

Expression for Smith-Mccort Dysplasia 2

Search GEO for disease gene expression data for Smith-Mccort Dysplasia 2.

Pathways for Smith-Mccort Dysplasia 2

GO Terms for Smith-Mccort Dysplasia 2

Sources for Smith-Mccort Dysplasia 2

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69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
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73 UMLS
74 UMLS via Orphanet
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