MCID: THR069
MIFTS: 23

Three M Syndrome 2

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Three M Syndrome 2

MalaCards integrated aliases for Three M Syndrome 2:

Name: Three M Syndrome 2 57 75 29 6 73
3-M Syndrome 2 57 13
3m Syndrome 2 57 75
3m2 57 75
3-M Syndrome, Type 2 40
3m Syndrome-2 75

Characteristics:

HPO:

32
three m syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Three M Syndrome 2

UniProtKB/Swiss-Prot : 75 3M syndrome 2: An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.

MalaCards based summary : Three M Syndrome 2, is also known as 3-m syndrome 2. An important gene associated with Three M Syndrome 2 is OBSL1 (Obscurin Like 1). The drugs Estradiol and Estradiol valerate have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are dolichocephaly and malar flattening

Description from OMIM: 612921

Related Diseases for Three M Syndrome 2

Diseases in the Three M Syndrome 1 family:

Three M Syndrome 2 Three M Syndrome 3

Symptoms & Phenotypes for Three M Syndrome 2

Clinical features from OMIM:

612921

Human phenotypes related to Three M Syndrome 2:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 dolichocephaly 32 very rare (1%) HP:0000268
2 malar flattening 32 HP:0000272
3 pointed chin 32 very rare (1%) HP:0000307
4 triangular face 32 very rare (1%) HP:0000325
5 long philtrum 32 very rare (1%) HP:0000343
6 protruding ear 32 very rare (1%) HP:0000411
7 anteverted nares 32 very rare (1%) HP:0000463
8 short neck 32 very rare (1%) HP:0000470
9 frontal bossing 32 very rare (1%) HP:0002007
10 slender long bone 32 very rare (1%) HP:0003100
11 hyperlordosis 32 very rare (1%) HP:0003307
12 scapular winging 32 very rare (1%) HP:0003691
13 short stature 32 HP:0004322
14 prominent nasal tip 32 HP:0005274
15 prominent calcaneus 32 very rare (1%) HP:0012428
16 thick vermilion border 32 very rare (1%) HP:0012471

Drugs & Therapeutics for Three M Syndrome 2

Drugs for Three M Syndrome 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
2 Estradiol valerate Approved, Investigational, Vet_approved Phase 4 979-32-8
3
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
4
Levonorgestrel Approved, Investigational Phase 4 797-63-7, 17489-40-6 13109
5
Polyestradiol phosphate Approved Phase 4 28014-46-2
6 Contraceptive Agents Phase 4
7 Contraceptives, Oral Phase 4
8 Contraceptives, Oral, Combined Phase 4
9 Estradiol 17 beta-cypionate Phase 4
10 Estradiol 3-benzoate Phase 4
11 Ethinyl estradiol, levonorgestrel drug combination Phase 4
12 Vaccines Phase 3

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Quartet Lead and Resynchronization Therapy Options Completed NCT01295840 Phase 4
2 A Study of Two Injection Techniques to Reduce Pain in Infants Undergoing Immunization Unknown status NCT01601197 Phase 3
3 Safety and Immunogenicity Study of an Influenza Vaccination Strategy Including an H3N2 M2SR Prime Followed by a Seasonal Quadrivalent Inactivated Vaccine Boost in a Pediatric Population 9-17 Years Old Not yet recruiting NCT03553940 Phase 1
4 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417

Search NIH Clinical Center for Three M Syndrome 2

Genetic Tests for Three M Syndrome 2

Genetic tests related to Three M Syndrome 2:

# Genetic test Affiliating Genes
1 Three M Syndrome 2 29 OBSL1

Anatomical Context for Three M Syndrome 2

MalaCards organs/tissues related to Three M Syndrome 2:

41
Bone

Publications for Three M Syndrome 2

Variations for Three M Syndrome 2

ClinVar genetic disease variations for Three M Syndrome 2:

6
(show all 16)
# Gene Variation Type Significance SNP ID Assembly Location
1 OBSL1 OBSL1, 1-BP INS, 690C insertion Pathogenic
2 OBSL1 NM_015311.2(OBSL1): c.1465C> T (p.Arg489Ter) single nucleotide variant Pathogenic rs121918216 GRCh37 Chromosome 2, 220432509: 220432509
3 OBSL1 NM_015311.2(OBSL1): c.1465C> T (p.Arg489Ter) single nucleotide variant Pathogenic rs121918216 GRCh38 Chromosome 2, 219567787: 219567787
4 OBSL1 OBSL1, 1-BP INS, 1273A insertion Pathogenic
5 OBSL1 NM_015311.2(OBSL1): c.1149C> A (p.Cys383Ter) single nucleotide variant Pathogenic rs121918215 GRCh37 Chromosome 2, 220432910: 220432910
6 OBSL1 NM_015311.2(OBSL1): c.1149C> A (p.Cys383Ter) single nucleotide variant Pathogenic rs121918215 GRCh38 Chromosome 2, 219568188: 219568188
7 OBSL1 OBSL1, 10-BP DEL, NT1256 deletion Pathogenic
8 OBSL1 NM_015311.2(OBSL1): c.1273dupA (p.Thr425Asnfs) duplication Pathogenic rs762334954 GRCh37 Chromosome 2, 220432786: 220432786
9 OBSL1 NM_015311.2(OBSL1): c.1273dupA (p.Thr425Asnfs) duplication Pathogenic rs762334954 GRCh38 Chromosome 2, 219568064: 219568064
10 OBSL1 NM_001173408.1(OBSL1): c.2135-3_2135-2delCA deletion Uncertain significance rs140112967 GRCh37 Chromosome 2, 220430238: 220430239
11 OBSL1 NM_001173408.1(OBSL1): c.2135-3_2135-2delCA deletion Uncertain significance rs140112967 GRCh38 Chromosome 2, 219565516: 219565517
12 OBSL1 NC_000002.11: g.220431637_220431689del53 deletion Pathogenic GRCh37 Chromosome 2, 220431637: 220431689
13 OBSL1 NM_015311.2(OBSL1): c.3955C> T (p.Gln1319Ter) single nucleotide variant Pathogenic rs1057518717 GRCh37 Chromosome 2, 220422176: 220422176
14 OBSL1 NM_015311.2(OBSL1): c.3955C> T (p.Gln1319Ter) single nucleotide variant Pathogenic rs1057518717 GRCh38 Chromosome 2, 219557454: 219557454
15 OBSL1 NM_015311.2(OBSL1): c.2474delT (p.Val825Alafs) deletion Pathogenic rs1057518716 GRCh37 Chromosome 2, 220428283: 220428283
16 OBSL1 NM_015311.2(OBSL1): c.2474delT (p.Val825Alafs) deletion Pathogenic rs1057518716 GRCh38 Chromosome 2, 219563561: 219563561

Expression for Three M Syndrome 2

Search GEO for disease gene expression data for Three M Syndrome 2.

Pathways for Three M Syndrome 2

GO Terms for Three M Syndrome 2

Sources for Three M Syndrome 2

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
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49 NCI
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54 NINDS
55 Novoseek
57 OMIM
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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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