MCID: THR096
MIFTS: 24

Three M Syndrome 3

Categories: Genetic diseases, Rare diseases, Bone diseases

Aliases & Classifications for Three M Syndrome 3

MalaCards integrated aliases for Three M Syndrome 3:

Name: Three M Syndrome 3 57 75 29 13 6 73
3m Syndrome 3 57 75
3m3 57 75
Three M Syndrome, Type 3 40
3-M Syndrome 3 57
3m Syndrome-3 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
three m syndrome 3:
Inheritance autosomal recessive inheritance


Classifications:



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)

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 dolichocephaly and malar flattening

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Three M Syndrome 3:

32 (show all 16)
# Description HPO Frequency HPO Source Accession
1 dolichocephaly 32 HP:0000268
2 malar flattening 32 HP:0000272
3 pointed chin 32 HP:0000307
4 triangular face 32 HP:0000325
5 protruding ear 32 HP:0000411
6 anteverted nares 32 HP:0000463
7 short neck 32 HP:0000470
8 hip dysplasia 32 HP:0001385
9 small for gestational age 32 HP:0001518
10 frontal bossing 32 HP:0002007
11 slender long bone 32 HP:0003100
12 hyperlordosis 32 HP:0003307
13 short stature 32 HP:0004322
14 increased vertebral height 32 HP:0004570
15 short thorax 32 HP:0010306
16 midface retrusion 32 HP:0011800

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 29 CCDC8

Anatomical Context for Three M Syndrome 3

MalaCards organs/tissues related to Three M Syndrome 3:

41
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 CCDC8, 1-BP DUP, 612G duplication Pathogenic
2 CCDC8 CCDC8, 1-BP DUP, 84T duplication Pathogenic

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 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
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
Content
Loading form....