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Metaphyseal anadysplasia

2 OMIM references -
2 associated genes
59 connected diseases
10 signs/symptoms

Disease	Type of connection
Spondyloepimetaphyseal dysplasia, Missouri type
Sorsby's fundus dystrophy
Ehlers-Danlos / osteogenesis imperfecta syndrome
High bone mass osteogenesis imperfecta
Osteogenesis imperfecta type 1
Osteogenesis imperfecta type 2
Osteogenesis imperfecta type 3
Osteogenesis imperfecta type 4
X-linked diffuse leiomyomatosis - Alport syndrome
Autosomal dominant Alport syndrome
Autosomal recessive Alport syndrome
Familial porencephaly
Autosomal dominant cutis laxa
Supravalvular aortic stenosis
Williams syndrome
Camurati-Engelmann disease
Cystic fibrosis
Caffey disease
Dermatofibrosarcoma protuberans
Ehlers-Danlos syndrome type 1
Ehlers-Danlos syndrome type 7A
Ehlers-Danlos syndrome, vascular-like type
Hereditary chronic pancreatitis
X-linked nonsyndromic sensorineural deafness type DFN
Normosmic congenital hypogonadotropic hypogonadism
Achondrogenesis type 2
Autosomal dominant familial hematuria - retinal arteriolar tortuosity - contractures
Autosomal dominant rhegmatogenous retinal detachment
Congenital factor XII deficiency
Czech dysplasia, metatarsal type
Dysspondyloenchondromatosis
Ehlers-Danlos syndrome type 7B
Ehlers-Danlos syndrome, cardiac valvular type
Familial avascular necrosis of femoral head
Familial prostate cancer
Familial vascular leukoencephalopathy
Fibronectin glomerulopathy
Hereditary angioedema type 3
Hypochondrogenesis
Hypoplasminogenemia
Kniest dysplasia
Legg-CalvÃ©-Perthes disease
Ligneous conjunctivitis
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Multiple epiphyseal dysplasia, Beighton type
Nodulosis-arthropathy-osteolysis syndrome
Otospondylomegaepiphyseal dysplasia
Platyspondylic dysplasia, Torrance type
Schizencephaly
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
Spondyloepiphyseal dysplasia congenita
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondyloperipheral dysplasia - short ulna
Stickler syndrome type 1
Torg-Winchester syndrome
Walker-Warburg syndrome
X-linked Alport syndrome
Wagner disease

Synonym(s): - Maroteaux-Verloes-Stanescu syndrome - Regressive metaphyseal dysplasia

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: any age Type of inheritance: autosomal dominant		External references: 2 OMIM references - 1 MeSH reference: C537351

Gene symbol	UniProt reference	OMIM reference
MMP13	P45452	600108
MMP9	P14780	120361

Very frequent

- Bowed diaphysis / diaphyses / long bones
- Epiphyseal anomaly
- Lower limb segmental anomalies
- Metaphyseal anomaly
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Restricted joint mobility / joint stiffness / ankylosis
- Rhizomelic micromelia
- Short stature / dwarfism / nanism
- Ulnar / cubital anomaly / absence / agenesis / hypoplasia / abnormal ulnar / cubital ray
- X-linked recessive inheritance