3M3
MCID: THR096
MIFTS: 24

Three M Syndrome 3 (3M3)

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

Aliases & Classifications for Three M Syndrome 3

MalaCards integrated aliases for Three M Syndrome 3:

Name: Three M Syndrome 3 57 72 29 13 6 70
3m Syndrome 3 57 72
3m3 57 72
Three M Syndrome, Type 3 39
3-M Syndrome 3 57
3m Syndrome-3 72

Characteristics:

OMIM®:

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

Miscellaneous:
five patients have been reported (as of 8/2011)


HPO:

31
three m syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM® 57 614205
OMIM Phenotypic Series 57 PS273750
MeSH 44 D004392
MedGen 41 C3280146
UMLS 70 C3280146

Summaries for Three M Syndrome 3

OMIM® : 57 The 3M syndrome is characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels (summary by Hanson et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of 3M syndrome, see 3M1 (273750). (614205) (Updated 20-May-2021)

MalaCards based summary : Three M Syndrome 3, also known as 3m syndrome 3, is related to three m syndrome 1. An important gene associated with Three M Syndrome 3 is CCDC8 (Coiled-Coil Domain Containing 8). Affiliated tissues include bone, and related phenotypes are frontal bossing and short neck

UniProtKB/Swiss-Prot : 72 3M syndrome 3: A disorder characterized by poor postnatal growth and distinctive facial features, including triangular facies, frontal bossing, fleshy tipped nose, and fleshy lips. Other features may include skeletal anomalies and prominent heels.

Related Diseases for Three M Syndrome 3

Diseases in the Three M Syndrome 1 family:

Three M Syndrome 2 Three M Syndrome 3

Diseases related to Three M Syndrome 3 via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 three m syndrome 1 11.0

Symptoms & Phenotypes for Three M Syndrome 3

Human phenotypes related to Three M Syndrome 3:

31 (show all 16)
# Description HPO Frequency HPO Source Accession
1 frontal bossing 31 HP:0002007
2 short neck 31 HP:0000470
3 hyperlordosis 31 HP:0003307
4 hip dysplasia 31 HP:0001385
5 anteverted nares 31 HP:0000463
6 short stature 31 HP:0004322
7 short thorax 31 HP:0010306
8 slender long bone 31 HP:0003100
9 dolichocephaly 31 HP:0000268
10 protruding ear 31 HP:0000411
11 malar flattening 31 HP:0000272
12 pointed chin 31 HP:0000307
13 midface retrusion 31 HP:0011800
14 triangular face 31 HP:0000325
15 small for gestational age 31 HP:0001518
16 increased vertebral height 31 HP:0004570

Symptoms via clinical synopsis from OMIM®:

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

Skeletal Spine:
hyperlordosis
tall vertebral bodies

Head And Neck Nose:
anteverted nares
fleshy tipped nose

Chest External Features:
short thorax
square shoulders
transverse chest groove

Head And Neck Ears:
prominent ears

Growth Other:
poor growth

Skeletal Feet:
prominent heels

Head And Neck Neck:
short neck

Skeletal Pelvis:
hip dysplasia

Growth Height:
short stature

Head And Neck Head:
dolichocephaly

Growth Weight:
low weight
low birth weight

Skeletal Limbs:
slender long bones

Head And Neck Mouth:
fleshy lips

Clinical features from OMIM®:

614205 (Updated 20-May-2021)

Drugs & Therapeutics for Three M Syndrome 3

Search Clinical Trials , NIH Clinical Center for Three M Syndrome 3

Genetic Tests for Three M Syndrome 3

Genetic tests related to Three M Syndrome 3:

# Genetic test Affiliating Genes
1 Three M Syndrome 3 29 CCDC8

Anatomical Context for Three M Syndrome 3

MalaCards organs/tissues related to Three M Syndrome 3:

40
Bone

Publications for Three M Syndrome 3

Articles related to Three M Syndrome 3:

# Title Authors PMID Year
1
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. 6 57
21737058 2011
2
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? 61
21548126 2011

Variations for Three M Syndrome 3

ClinVar genetic disease variations for Three M Syndrome 3:

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 CCDC8 NM_032040.5(CCDC8):c.612dup (p.Lys205fs) Duplication Pathogenic 31104 rs752254407 GRCh37: 19:46915455-46915456
GRCh38: 19:46412198-46412199
2 CCDC8 NM_032040.5(CCDC8):c.84dup (p.Lys29Ter) Duplication Pathogenic 31105 rs1568590155 GRCh37: 19:46915983-46915984
GRCh38: 19:46412726-46412727
3 CCDC8 NM_032040.5(CCDC8):c.1609C>T (p.Gln537Ter) SNV Pathogenic 1028421 GRCh37: 19:46914459-46914459
GRCh38: 19:46411202-46411202
4 CCDC8 NM_032040.5(CCDC8):c.346_347del (p.Lys116fs) Deletion Pathogenic 1028423 GRCh37: 19:46915721-46915722
GRCh38: 19:46412464-46412465
5 CCDC8 NM_032040.5(CCDC8):c.1027C>T (p.Gln343Ter) SNV Pathogenic 1031473 GRCh37: 19:46915041-46915041
GRCh38: 19:46411784-46411784
6 CCDC8 NM_032040.5(CCDC8):c.1555del (p.Arg519fs) Deletion Pathogenic 452737 rs745914961 GRCh37: 19:46914513-46914513
GRCh38: 19:46411256-46411256
7 CCDC8 NM_032040.5(CCDC8):c.803_807delinsT (p.Lys268fs) Indel Likely pathogenic 1028424 GRCh37: 19:46915261-46915265
GRCh38: 19:46412004-46412008
8 CCDC8 NM_032040.5(CCDC8):c.203_204del (p.Gln68fs) Deletion Likely pathogenic 931927 GRCh37: 19:46915864-46915865
GRCh38: 19:46412607-46412608
9 CCDC8 NM_032040.5(CCDC8):c.817_829del (p.Ser273fs) Deletion Likely pathogenic 932012 GRCh37: 19:46915239-46915251
GRCh38: 19:46411982-46411994
10 CCDC8 NM_032040.5(CCDC8):c.963del (p.Ala323fs) Deletion Likely pathogenic 993034 GRCh37: 19:46915105-46915105
GRCh38: 19:46411848-46411848
11 CCDC8 NM_032040.5(CCDC8):c.287C>G (p.Thr96Arg) SNV Uncertain significance 1028422 GRCh37: 19:46915781-46915781
GRCh38: 19:46412524-46412524
12 CCDC8 NM_032040.5(CCDC8):c.43C>T (p.Arg15Trp) SNV Uncertain significance 714026 rs200189331 GRCh37: 19:46916025-46916025
GRCh38: 19:46412768-46412768

Expression for Three M Syndrome 3

Search GEO for disease gene expression data for Three M Syndrome 3.

Pathways for Three M Syndrome 3

GO Terms for Three M Syndrome 3

Sources for Three M Syndrome 3

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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