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3M syndrome
3 OMIM references -
3 associated genes
44 connected diseases
40 signs/symptoms
Disease Type of connection
B-cell chronic lymphocytic leukemia
Precursor B-cell acute lymphoblastic leukemia
Adrenocortical carcinoma
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Autosomal recessive centronuclear myopathy
Autosomal recessive limb-girdle muscular dystrophy type 2J
Early-onset myopathy with fatal cardiomyopathy
Familial isolated arrhythmogenic ventricular dysplasia, biventricular form
Familial isolated arrhythmogenic ventricular dysplasia, left dominant form
Familial isolated arrhythmogenic ventricular dysplasia, right dominant form
Familial isolated dilated cardiomyopathy
Hereditary proximal myopathy with early respiratory failure
Tibial muscular dystrophy
Autosomal dominant nonsyndromic intellectual deficit
Congenital analbuminemia
Adult-onset distal myopathy due to VCP mutation
Amyotrophic lateral sclerosis
Anophthalmia / microphthalmia - esophageal atresia
Behavioral variant of frontotemporal dementia
COFS syndrome
Chronic myeloid leukemia
Cockayne syndrome type 1
Cockayne syndrome type 2
Cockayne syndrome type 3
Colobomatous microphthalmia
Glycogen storage disease due to liver phosphorylase kinase deficiency
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Isolated anophthalmia - microphthalmia
Mantle cell lymphoma
Mosaic variegated aneuploidy syndrome
Multiple myeloma
Precursor T-cell acute lymphoblastic leukemia
Progressive non-fluent aphasia
Semantic dementia
Septo-optic dysplasia
Spastic paraplegia - Paget disease of bone
Spinal muscular atrophy with respiratory distress
UV-sensitive syndrome
Angelman syndrome
Synonym(s):
- 3-M syndrome
- Dolichospondylic dysplasia
- Gloomy face syndrome
- Le Merrer syndrome
- Yakut short stature syndrome
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal recessive
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
CCDC8 Q9H0W5614145
CUL7 Q14999609577
OBSL1 O75147610991
Very frequent
- Abnormal vertebral size / shape
- Anteverted nares / nostrils
- Autosomal recessive inheritance
- Broad forehead
- Delayed bone age
- Frontal bossing / prominent forehead
- Intrauterine growth retardation
- Long / large / bulbous nose
- Metaphyseal anomaly
- Mid-facial hypoplasia / short / small midface
- Narrowed / gracile diaphysis / diaphyses / long bones / dolichostenomelia
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Pes talus
- Protruding lips
- Scapula structural / position anomaly / congenital elevation / Sprengel anomaly
- Short neck
- Short stature / dwarfism / nanism
- Thick / bushy eyebrows
- Triangular face

Frequent
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dolichocephaly / scaphocephaly
- Elbow anomalies(excluding luxation)
- Enamel anomaly
- Hyperextensible joints / articular hyperlaxity
- Long philtrum
- Lordosis
- Pointed chin
- Prominent / bat ears
- Rib structure anomalies
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- Wide rib cage / thorax

Occasional
- Cerebral vascular anomalies
- Clinodactyly of fifth finger
- Hip dislocation / dysplasia / coxa valga / coxa vara / coxa plana
- Hypospadias / epispadias / bent penis
- Kyphosis
- Scoliosis
- Sterility / hypofertility