3M2
MCID: THR069
MIFTS: 32

Three M Syndrome 2 (3M2)

Categories: Bone diseases, Endocrine diseases, Fetal 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 57 72 29 6 70
3-M Syndrome 2 57 13
3m Syndrome 2 57 72
3m2 57 72
3-M Syndrome, Type 2 39
3m Syndrome-2 72

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
facial dysmorphism becomes less prominent with age


HPO:

31
three m syndrome 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Three M Syndrome 2

OMIM® : 57 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) (Updated 20-May-2021)

MalaCards based summary : Three M Syndrome 2, also known as 3-m syndrome 2, is related to renal hypoplasia and three m syndrome 1. An important gene associated with Three M Syndrome 2 is OBSL1 (Obscurin Like Cytoskeletal Adaptor 1). Affiliated tissues include tongue and bone, and related phenotypes are frontal bossing and short neck

UniProtKB/Swiss-Prot : 72 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

Diseases related to Three M Syndrome 2 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 renal hypoplasia 10.0
2 three m syndrome 1 9.9
3 light fixation seizure syndrome 9.9
4 alacrima, achalasia, and mental retardation syndrome 9.9
5 autosomal recessive disease 9.9
6 microcephaly 9.9

Graphical network of the top 20 diseases related to Three M Syndrome 2:



Diseases related to Three M Syndrome 2

Symptoms & Phenotypes for Three M Syndrome 2

Human phenotypes related to Three M Syndrome 2:

31 (show all 28)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 very rare (1%) HP:0002007
2 short neck 31 very rare (1%) HP:0000470
3 hyperlordosis 31 very rare (1%) HP:0003307
4 delayed skeletal maturation 31 very rare (1%) HP:0002750
5 thick vermilion border 31 very rare (1%) HP:0012471
6 anteverted nares 31 very rare (1%) HP:0000463
7 slender long bone 31 very rare (1%) HP:0003100
8 scapular winging 31 very rare (1%) HP:0003691
9 dolichocephaly 31 very rare (1%) HP:0000268
10 long philtrum 31 very rare (1%) HP:0000343
11 protruding ear 31 very rare (1%) HP:0000411
12 pointed chin 31 very rare (1%) HP:0000307
13 triangular face 31 very rare (1%) HP:0000325
14 prominent calcaneus 31 very rare (1%) HP:0012428
15 high palate 31 HP:0000218
16 depressed nasal bridge 31 HP:0005280
17 dental malocclusion 31 HP:0000689
18 short stature 31 HP:0004322
19 short thorax 31 HP:0010306
20 delayed eruption of teeth 31 HP:0000684
21 malar flattening 31 HP:0000272
22 midface retrusion 31 HP:0011800
23 relative macrocephaly 31 HP:0004482
24 thin ribs 31 HP:0000883
25 small for gestational age 31 HP:0001518
26 short 5th finger 31 HP:0009237
27 prominent nasal tip 31 HP:0005274
28 abnormal sternum morphology 31 HP:0000766

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Face:
frontal bossing
long philtrum
pointed chin
triangular face
midface hypoplasia

Skeletal Spine:
hyperlordosis
tall lumbar vertebrae

Growth Height:
short stature

Head And Neck Head:
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 Neck:
short neck

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

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

Skeletal Skull:
dolichocephaly
relative macrocephaly

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 (Updated 20-May-2021)

Drugs & Therapeutics for Three M Syndrome 2

Search Clinical Trials , 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:

40
Tongue, Bone

Publications for Three M Syndrome 2

Articles related to Three M Syndrome 2:

# Title Authors PMID Year
1
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. 6 57
27796265 2017
2
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. 57 6
23457316 2013
3
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. 57 6
19481195 2009
4
3-M syndrome: a report of three Egyptian cases with review of the literature. 57 6
16531729 2006
5
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. 6 61
25923536 2015
6
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants. 6
28969986 2017
7
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. 6
19877176 2010
8
Three M syndrome 2 in two Indian patients. 61
33135300 2021

Variations for Three M Syndrome 2

ClinVar genetic disease variations for Three M Syndrome 2:

6 (show top 50) (show all 228)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 OBSL1 NM_015311.3(OBSL1):c.1149C>A (p.Cys383Ter) SNV Pathogenic 1046 rs121918215 GRCh37: 2:220432910-220432910
GRCh38: 2:219568188-219568188
2 OBSL1 NM_015311.3(OBSL1):c.1256_1265del (p.Arg419fs) Deletion Pathogenic 1047 rs1335171880 GRCh37: 2:220432794-220432803
GRCh38: 2:219568072-219568081
3 OBSL1 NM_015311.3(OBSL1):c.690dup (p.Glu231fs) Duplication Pathogenic 523511 rs1553538488 GRCh37: 2:220435264-220435265
GRCh38: 2:219570542-219570543
4 OBSL1 NM_015311.3(OBSL1):c.1465C>T (p.Arg489Ter) SNV Pathogenic 1049 rs121918216 GRCh37: 2:220432509-220432509
GRCh38: 2:219567787-219567787
5 OBSL1 NM_015311.3(OBSL1):c.457_458delinsT (p.Gly153fs) Indel Pathogenic 617511 rs1559160379 GRCh37: 2:220435497-220435498
GRCh38: 2:219570775-219570776
6 OBSL1 NM_015311.3(OBSL1):c.848del (p.Gly283fs) Deletion Pathogenic 870250 GRCh37: 2:220435107-220435107
GRCh38: 2:219570385-219570385
7 OBSL1 NM_015311.3(OBSL1):c.2474del (p.Val825fs) Deletion Pathogenic 374349 rs1057518716 GRCh37: 2:220428283-220428283
GRCh38: 2:219563561-219563561
8 OBSL1 NM_015311.3(OBSL1):c.3955C>T (p.Gln1319Ter) SNV Pathogenic 374350 rs1057518717 GRCh37: 2:220422176-220422176
GRCh38: 2:219557454-219557454
9 OBSL1 NM_015311.3(OBSL1):c.4255C>T (p.Arg1419Ter) SNV Pathogenic 997676 GRCh37: 2:220421257-220421257
GRCh38: 2:219556535-219556535
10 OBSL1 NM_015311.3(OBSL1):c.3922C>T (p.Arg1308Ter) SNV Pathogenic 1030487 GRCh37: 2:220422209-220422209
GRCh38: 2:219557487-219557487
11 OBSL1 NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) Duplication Pathogenic 195306 rs762334954 GRCh37: 2:220432785-220432786
GRCh38: 2:219568063-219568064
12 OBSL1 NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) Duplication Pathogenic 998035 rs762334954 GRCh37: 2:220432785-220432786
GRCh38: 2:219568063-219568064
13 OBSL1 NM_015311.3(OBSL1):c.5261_5271dup (p.Leu1758fs) Duplication Pathogenic 1033759 GRCh37: 2:220417294-220417295
GRCh38: 2:219552572-219552573
14 OBSL1 NM_015311.3(OBSL1):c.4609+1G>A SNV Pathogenic 1033758 GRCh37: 2:220420741-220420741
GRCh38: 2:219556019-219556019
15 OBSL1 NM_015311.3(OBSL1):c.4453C>T (p.Arg1485Ter) SNV Pathogenic 1033347 GRCh37: 2:220420898-220420898
GRCh38: 2:219556176-219556176
16 OBSL1 NM_015311.3(OBSL1):c.4420C>T (p.Arg1474Ter) SNV Pathogenic 1018270 GRCh37: 2:220420931-220420931
GRCh38: 2:219556209-219556209
17 OBSL1 NM_015311.3(OBSL1):c.1273dup (p.Thr425fs) Duplication Pathogenic 195306 rs762334954 GRCh37: 2:220432785-220432786
GRCh38: 2:219568063-219568064
18 OBSL1 NM_015311.3(OBSL1):c.3341G>A (p.Trp1114Ter) SNV Pathogenic 598982 rs560246798 GRCh37: 2:220423067-220423067
GRCh38: 2:219558345-219558345
19 OBSL1 NM_015311.3(OBSL1):c.4951G>T (p.Glu1651Ter) SNV Pathogenic 729741 rs140825693 GRCh37: 2:220418334-220418334
GRCh38: 2:219553612-219553612
20 OBSL1 NM_015311.3(OBSL1):c.2635del (p.Cys879fs) Deletion Likely pathogenic 931501 GRCh37: 2:220428122-220428122
GRCh38: 2:219563400-219563400
21 OBSL1 NM_015311.3(OBSL1):c.1534+5G>C SNV Likely pathogenic 801901 rs775172922 GRCh37: 2:220432435-220432435
GRCh38: 2:219567713-219567713
22 OBSL1 NM_015311.3(OBSL1):c.4732C>T (p.Gln1578Ter) SNV Conflicting interpretations of pathogenicity 496928 rs116131367 GRCh37: 2:220419340-220419340
GRCh38: 2:219554618-219554618
23 OBSL1 NM_015311.3(OBSL1):c.2638G>A (p.Val880Ile) SNV Uncertain significance 898877 GRCh37: 2:220428119-220428119
GRCh38: 2:219563397-219563397
24 OBSL1 NM_015311.3(OBSL1):c.4454G>A (p.Arg1485Gln) SNV Uncertain significance 334472 rs548462567 GRCh37: 2:220420897-220420897
GRCh38: 2:219556175-219556175
25 OBSL1 NM_015311.3(OBSL1):c.1311G>T (p.Lys437Asn) SNV Uncertain significance 894812 GRCh37: 2:220432663-220432663
GRCh38: 2:219567941-219567941
26 OBSL1 NM_015311.3(OBSL1):c.2104G>A (p.Val702Met) SNV Uncertain significance 896193 GRCh37: 2:220431582-220431582
GRCh38: 2:219566860-219566860
27 OBSL1 NM_015311.3(OBSL1):c.3994C>T (p.Arg1332Trp) SNV Uncertain significance 1030488 GRCh37: 2:220422137-220422137
GRCh38: 2:219557415-219557415
28 OBSL1 NM_015311.3(OBSL1):c.2327C>G (p.Pro776Arg) SNV Uncertain significance 1033346 GRCh37: 2:220430044-220430044
GRCh38: 2:219565322-219565322
29 OBSL1 NM_015311.3(OBSL1):c.3853G>A (p.Gly1285Arg) SNV Uncertain significance 897647 GRCh37: 2:220422278-220422278
GRCh38: 2:219557556-219557556
30 OBSL1 NM_015311.3(OBSL1):c.4441G>A (p.Val1481Met) SNV Uncertain significance 334473 rs749067992 GRCh37: 2:220420910-220420910
GRCh38: 2:219556188-219556188
31 OBSL1 NM_015311.3(OBSL1):c.765C>T (p.Phe255=) SNV Uncertain significance 899015 GRCh37: 2:220435190-220435190
GRCh38: 2:219570468-219570468
32 OBSL1 NM_015311.3(OBSL1):c.907G>A (p.Val303Met) SNV Uncertain significance 899014 GRCh37: 2:220435048-220435048
GRCh38: 2:219570326-219570326
33 OBSL1 NM_015311.3(OBSL1):c.1443C>G (p.Ala481=) SNV Uncertain significance 898943 GRCh37: 2:220432531-220432531
GRCh38: 2:219567809-219567809
34 OBSL1 NM_015311.3(OBSL1):c.4069C>T (p.Pro1357Ser) SNV Uncertain significance 418392 rs200543358 GRCh37: 2:220421443-220421443
GRCh38: 2:219556721-219556721
35 OBSL1 NM_015311.3(OBSL1):c.2858G>A (p.Arg953His) SNV Uncertain significance 897724 GRCh37: 2:220427219-220427219
GRCh38: 2:219562497-219562497
36 OBSL1 NM_015311.3(OBSL1):c.2791T>G (p.Trp931Gly) SNV Uncertain significance 897725 GRCh37: 2:220427286-220427286
GRCh38: 2:219562564-219562564
37 OBSL1 NM_015311.3(OBSL1):c.2731G>A (p.Val911Met) SNV Uncertain significance 897726 GRCh37: 2:220427346-220427346
GRCh38: 2:219562624-219562624
38 OBSL1 NM_015311.3(OBSL1):c.3355C>T (p.Leu1119=) SNV Uncertain significance 895852 GRCh37: 2:220423053-220423053
GRCh38: 2:219558331-219558331
39 OBSL1 NM_015311.3(OBSL1):c.4419C>T (p.Gly1473=) SNV Uncertain significance 897587 GRCh37: 2:220420932-220420932
GRCh38: 2:219556210-219556210
40 OBSL1 NM_015311.3(OBSL1):c.4005C>A (p.Asp1335Glu) SNV Uncertain significance 334489 rs375716830 GRCh37: 2:220422126-220422126
GRCh38: 2:219557404-219557404
41 OBSL1 NM_015311.3(OBSL1):c.1255C>T (p.Arg419Cys) SNV Uncertain significance 334524 rs79295927 GRCh37: 2:220432804-220432804
GRCh38: 2:219568082-219568082
42 OBSL1 NM_015311.3(OBSL1):c.4285G>A (p.Val1429Met) SNV Uncertain significance 334478 rs375101491 GRCh37: 2:220421227-220421227
GRCh38: 2:219556505-219556505
43 OBSL1 NM_015311.3(OBSL1):c.3937G>A (p.Gly1313Arg) SNV Uncertain significance 289411 rs766548555 GRCh37: 2:220422194-220422194
GRCh38: 2:219557472-219557472
44 OBSL1 NM_015311.3(OBSL1):c.4850G>A (p.Arg1617His) SNV Uncertain significance 895702 GRCh37: 2:220419222-220419222
GRCh38: 2:219554500-219554500
45 OBSL1 NM_015311.3(OBSL1):c.4429G>A (p.Ala1477Thr) SNV Uncertain significance 897586 GRCh37: 2:220420922-220420922
GRCh38: 2:219556200-219556200
46 OBSL1 NM_015311.3(OBSL1):c.4610-6G>A SNV Uncertain significance 895985 GRCh37: 2:220419468-220419468
GRCh38: 2:219554746-219554746
47 OBSL1 NM_015311.3(OBSL1):c.4133C>T (p.Thr1378Met) SNV Uncertain significance 895776 GRCh37: 2:220421379-220421379
GRCh38: 2:219556657-219556657
48 OBSL1 NM_015311.3(OBSL1):c.1663C>T (p.Arg555Trp) SNV Uncertain significance 898942 GRCh37: 2:220432169-220432169
GRCh38: 2:219567447-219567447
49 OBSL1 NM_015311.3(OBSL1):c.1722C>T (p.Ala574=) SNV Uncertain significance 737022 rs377614503 GRCh37: 2:220432110-220432110
GRCh38: 2:219567388-219567388
50 OBSL1 NM_015311.3(OBSL1):c.1733C>T (p.Pro578Leu) SNV Uncertain significance 898941 GRCh37: 2:220432099-220432099
GRCh38: 2:219567377-219567377

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
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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