3M3
MCID: THR096
MIFTS: 24

Three M Syndrome 3 (3M3)

Categories: Bone 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 58 76 30 13 6 74
3m Syndrome 3 58 76
3m3 58 76
Three M Syndrome, Type 3 41
3-M Syndrome 3 58
3m Syndrome-3 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive

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


HPO:

33
three m syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Three M Syndrome 3

OMIM : 58 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)

MalaCards based summary : Three M Syndrome 3, is also known as 3m syndrome 3. An important gene associated with Three M Syndrome 3 is CCDC8 (Coiled-Coil Domain Containing 8). The drugs Doxycycline and Anti-Bacterial Agents have been mentioned in the context of this disorder. Affiliated tissues include bone, and related phenotypes are malar flattening and short neck

UniProtKB/Swiss-Prot : 76 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

Symptoms & Phenotypes for Three M Syndrome 3

Human phenotypes related to Three M Syndrome 3:

33 (show all 16)
# Description HPO Frequency HPO Source Accession
1 malar flattening 33 HP:0000272
2 short neck 33 HP:0000470
3 frontal bossing 33 HP:0002007
4 hyperlordosis 33 HP:0003307
5 hip dysplasia 33 HP:0001385
6 anteverted nares 33 HP:0000463
7 short stature 33 HP:0004322
8 dolichocephaly 33 HP:0000268
9 short thorax 33 HP:0010306
10 protruding ear 33 HP:0000411
11 pointed chin 33 HP:0000307
12 midface retrusion 33 HP:0011800
13 triangular face 33 HP:0000325
14 slender long bone 33 HP:0003100
15 small for gestational age 33 HP:0001518
16 increased vertebral height 33 HP:0004570

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal Spine:
hyperlordosis
tall vertebral bodies

Head And Neck Nose:
anteverted nares
fleshy tipped nose

Head And Neck Head:
dolichocephaly

Head And Neck Ears:
prominent ears

Growth Other:
poor growth

Skeletal Feet:
prominent heels

Head And Neck Face:
frontal bossing
pointed chin
midface hypoplasia
triangular facies

Skeletal Pelvis:
hip dysplasia

Growth Height:
short stature

Chest External Features:
short thorax
square shoulders
transverse chest groove

Growth Weight:
low weight
low birth weight

Skeletal Limbs:
slender long bones

Head And Neck Mouth:
fleshy lips

Clinical features from OMIM:

614205

Drugs & Therapeutics for Three M Syndrome 3

Drugs for Three M Syndrome 3 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 6)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxycycline Approved, Investigational, Vet_approved Not Applicable 564-25-0 54671203
2 Anti-Bacterial Agents Not Applicable
3 Anti-Infective Agents Not Applicable
4 Antimalarials Not Applicable
5 Antiparasitic Agents Not Applicable
6 Antiprotozoal Agents Not Applicable

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 RosaC-RF : Bipolar Radiofrequency vs Doxycycline in Rosacea Active, not recruiting NCT02204254 Not Applicable Doxycycline

Search 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 30 CCDC8

Anatomical Context for Three M Syndrome 3

MalaCards organs/tissues related to Three M Syndrome 3:

42
Bone

Publications for Three M Syndrome 3

Variations for Three M Syndrome 3

ClinVar genetic disease variations for Three M Syndrome 3:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 CCDC8 NM_032040.5(CCDC8): c.612dup (p.Lys205Glufs) duplication Pathogenic GRCh37 Chromosome 19, 46915456: 46915456
2 CCDC8 NM_032040.5(CCDC8): c.84dup (p.Lys29Terfs) duplication Pathogenic GRCh38 Chromosome 19, 46412727: 46412727
3 CCDC8 NM_032040.5(CCDC8): c.84dup (p.Lys29Terfs) duplication Pathogenic GRCh37 Chromosome 19, 46915984: 46915984
4 CCDC8 NM_032040.5(CCDC8): c.612dup (p.Lys205Glufs) duplication Pathogenic GRCh38 Chromosome 19, 46412199: 46412199

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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....