3M2
MCID: THR069
MIFTS: 27

Three M Syndrome 2 (3M2)

Categories: Bone diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Three M Syndrome 2

MalaCards integrated aliases for Three M Syndrome 2:

Name: Three M Syndrome 2 58 76 30 6 74
3-M Syndrome 2 58 13
3m Syndrome 2 58 76
3m2 58 76
3-M Syndrome, Type 2 41
3m Syndrome-2 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

Miscellaneous:
facial dysmorphism becomes less prominent with age


HPO:

33
three m syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Three M Syndrome 2

OMIM : 58 3M syndrome-2 (3M2) is characterized by low birth weight and short stature, relative macrocephaly, lumbar hyperlordosis, and prominent heels. Dysmorphic facial features include triangular face with frontal bossing and midface hypoplasia, anteverted nares with fleshy nasal tip, and full fleshy lips (Hanson et al., 2009). For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (273750). (612921)

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 Ethinyl Estradiol and Levonorgestrel have been mentioned in the context of this disorder. Affiliated tissues include tongue, and related phenotypes are short neck and frontal bossing

UniProtKB/Swiss-Prot : 76 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.

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

Human phenotypes related to Three M Syndrome 2:

33 (show all 26)
# Description HPO Frequency HPO Source Accession
1 short neck 33 very rare (1%) HP:0000470
2 frontal bossing 33 very rare (1%) HP:0002007
3 hyperlordosis 33 very rare (1%) HP:0003307
4 thick vermilion border 33 very rare (1%) HP:0012471
5 anteverted nares 33 very rare (1%) HP:0000463
6 long philtrum 33 very rare (1%) HP:0000343
7 dolichocephaly 33 very rare (1%) HP:0000268
8 scapular winging 33 very rare (1%) HP:0003691
9 protruding ear 33 very rare (1%) HP:0000411
10 pointed chin 33 very rare (1%) HP:0000307
11 triangular face 33 very rare (1%) HP:0000325
12 slender long bone 33 very rare (1%) HP:0003100
13 prominent calcaneus 33 very rare (1%) HP:0012428
14 malar flattening 33 HP:0000272
15 high palate 33 HP:0000218
16 dental malocclusion 33 HP:0000689
17 depressed nasal bridge 33 HP:0005280
18 short stature 33 HP:0004322
19 delayed eruption of teeth 33 HP:0000684
20 short thorax 33 HP:0010306
21 thin ribs 33 HP:0000883
22 midface retrusion 33 HP:0011800
23 abnormality of the sternum 33 HP:0000766
24 relative macrocephaly 33 HP:0004482
25 prominent nasal tip 33 HP:0005274
26 short 5th finger 33 HP:0009237

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal Spine:
hyperlordosis
tall lumbar vertebrae

Growth Height:
short stature

Skeletal Skull:
dolichocephaly
relative macrocephaly

Chest Ribs Sternum Clavicles And Scapulae:
thin ribs
winged scapulae

Head And Neck Mouth:
high-arched palate
full fleshy lips
median fissured tongue (in some patients)
partial ankyloglossia (rare)
bifid tip of tongue (rare)

Growth Weight:
low birth weight

Skeletal Limbs:
slender long bones

Skeletal:
delayed bone age (rare)

Head And Neck Face:
frontal bossing
long philtrum
pointed chin
triangular face
midface hypoplasia

Head And Neck Nose:
anteverted nares
low nasal bridge
fleshy tip of nose

Head And Neck Head:
dolichocephaly
relative macrocephaly

Chest External Features:
short thorax
pectus deformity
square shoulders
transverse chest groove

Head And Neck Teeth:
malocclusion
delayed eruption
enamel hypocalcification

Head And Neck Ears:
prominent ears

Skeletal Hands:
short fifth fingers
fifth-finger clinodactyly

Skeletal Feet:
prominent heels

Skeletal Pelvis:
small narrow pelvis

Clinical features from OMIM:

612921

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
Ethinyl Estradiol Approved Phase 4,Not Applicable 57-63-6 5991
2
Levonorgestrel Approved, Investigational Phase 4,Not Applicable 797-63-7, 17489-40-6 13109
3
Polyestradiol phosphate Approved Phase 4,Not Applicable 28014-46-2
4
Estradiol Approved, Investigational, Vet_approved Phase 4,Not Applicable 50-28-2 5757
5 Contraceptives, Oral, Combined Phase 4,Not Applicable
6 Contraceptive Agents Phase 4,Not Applicable
7 Contraceptives, Oral Phase 4,Not Applicable
8 Estradiol 3-benzoate Phase 4,Not Applicable
9 Estradiol 17 beta-cypionate Phase 4,Not Applicable
10 Ethinyl estradiol, levonorgestrel drug combination Phase 4,Not Applicable
11 Vaccines Phase 3,Phase 1
12 Immunologic Factors Phase 3,Phase 1

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 Recruiting NCT03553940 Phase 1
4 Sleep-disordered Breathing in Eisenmenger Syndrome Completed NCT02614417
5 Promote Q Cardiac Resynchronization Therapy Defibrillator (CRT-D) and Quartet Left Ventricular Heart Lead Study Completed NCT00990665 Not Applicable

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 30 OBSL1

Anatomical Context for Three M Syndrome 2

MalaCards organs/tissues related to Three M Syndrome 2:

42
Tongue

Publications for Three M Syndrome 2

Articles related to Three M Syndrome 2:

# Title Authors Year
1
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. ( 27796265 )
2017
2
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. ( 23457316 )
2013
3
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. ( 19481195 )
2009
4
3-M syndrome: a report of three Egyptian cases with review of the literature. ( 16531729 )
2006
5
Relativistic multichannel calculation of the Ne KLL and Ar L2M2,3M2,3 Auger transition rates. ( 9908257 )
1992

Variations for Three M Syndrome 2

ClinVar genetic disease variations for Three M Syndrome 2:

6 (show all 20)
# Gene Variation Type Significance SNP ID Assembly Location
1 OBSL1 NM_015311.2(OBSL1): c.1149C> A (p.Cys383Ter) single nucleotide variant Pathogenic rs121918215 GRCh37 Chromosome 2, 220432910: 220432910
2 OBSL1 NM_015311.2(OBSL1): c.1149C> A (p.Cys383Ter) single nucleotide variant Pathogenic rs121918215 GRCh38 Chromosome 2, 219568188: 219568188
3 OBSL1 NM_015311.2(OBSL1): c.1256_1265delGCACCGTGGC (p.Arg419Profs) deletion Pathogenic GRCh37 Chromosome 2, 220432794: 220432803
4 OBSL1 NM_015311.2(OBSL1): c.1256_1265delGCACCGTGGC (p.Arg419Profs) deletion Pathogenic GRCh38 Chromosome 2, 219568072: 219568081
5 OBSL1 NM_015311.2(OBSL1): c.1465C> T (p.Arg489Ter) single nucleotide variant Pathogenic rs121918216 GRCh37 Chromosome 2, 220432509: 220432509
6 OBSL1 NM_015311.2(OBSL1): c.1465C> T (p.Arg489Ter) single nucleotide variant Pathogenic rs121918216 GRCh38 Chromosome 2, 219567787: 219567787
7 OBSL1 NM_015311.2(OBSL1): c.1273dupA (p.Thr425Asnfs) duplication Pathogenic rs762334954 GRCh37 Chromosome 2, 220432786: 220432786
8 OBSL1 NM_015311.2(OBSL1): c.1273dupA (p.Thr425Asnfs) duplication Pathogenic rs762334954 GRCh38 Chromosome 2, 219568064: 219568064
9 OBSL1 NM_001173408.1(OBSL1): c.2135-3_2135-2delCA deletion Uncertain significance rs140112967 GRCh37 Chromosome 2, 220430238: 220430239
10 OBSL1 NM_001173408.1(OBSL1): c.2135-3_2135-2delCA deletion Uncertain significance rs140112967 GRCh38 Chromosome 2, 219565516: 219565517
11 OBSL1 NM_015311.2(OBSL1): c.3937G> A (p.Gly1313Arg) single nucleotide variant Uncertain significance rs766548555 GRCh37 Chromosome 2, 220422194: 220422194
12 OBSL1 NM_015311.2(OBSL1): c.3937G> A (p.Gly1313Arg) single nucleotide variant Uncertain significance rs766548555 GRCh38 Chromosome 2, 219557472: 219557472
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
17 OBSL1 NM_015311.2(OBSL1): c.690dup (p.Glu231Argfs) duplication Likely pathogenic rs1553538488 GRCh37 Chromosome 2, 220435265: 220435265
18 OBSL1 NM_015311.2(OBSL1): c.690dup (p.Glu231Argfs) duplication Likely pathogenic rs1553538488 GRCh38 Chromosome 2, 219570543: 219570543
19 OBSL1 NM_015311.3(OBSL1): c.457_458delGGinsT (p.Gly153Serfs) indel Pathogenic GRCh37 Chromosome 2, 220435497: 220435498
20 OBSL1 NM_015311.3(OBSL1): c.457_458delGGinsT (p.Gly153Serfs) indel Pathogenic GRCh38 Chromosome 2, 219570775: 219570776

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 EFO
18 ExPASy
20 FMA
29 GO
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31 HGMD
32 HMDB
33 HPO
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35 ICD10 via Orphanet
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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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