KEGG DISEASE: Spondylometaphyseal dysplasia

KEGG

DISEASE: Spondylometaphyseal dysplasia

Entry

H02185                      Disease

Name

Spondylometaphyseal dysplasia

Subgroup

Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, corner fracture type
Spondylometaphyseal dysplasia, axial (SMDAX)
Spondylometaphyseal dysplasia with corneal dystrophy (SMDCD)
Spondylometaphyseal dysplasia, Sedaghatian type [DS:H01825]
Spondylometaphyseal dysplasia, Megarbane-Dagher-Melki type [DS:H01830]
Spondylometaphyseal dysplasia with cone-rod dystrophy [DS:H01821]
spondylometaphyseal dysplasia, Pagnamenta type (SMDP)

Description

The spondylometaphyseal dysplasias (SMD) are a group of short-stature disorders distinguished by abnormalities in the vertebrae and the metaphyses of the tubular bones. Aside from the most common SMD Kozlowski type (SMDK) and the second most common SMD corner fracture type (SMDCF), there are several rare subtypes and numerous unclassifiable cases of SMD.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02185  Spondylometaphyseal dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H02185  Spondylometaphyseal dysplasia
Endocrine system
  nt06325  Hormone/cytokine signaling
   H02185  Spondylometaphyseal dysplasia

Pathway

hsa04820 Cytoskeleton in muscle cells

Network

nt06325 Hormone/cytokine signaling
nt06539 Cytoskeleton in muscle cells

Gene

(SMDK) TRPV4 [HSA:59341] [KO:K04973]
(SMDCF) FN1 [HSA:2335] [KO:K05717]
(SMDAX) CFAP410 [HSA:755] [KO:K23456]
(SMDCD) PLCB3 [HSA:5331] [KO:K05858]
(SMDP) PRKG2 [HSA:5593] [KO:K19477]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

184252 184255 602271 618961 619638

Reference

PMID:19232556 (SMDK)

Authors

Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH

Title

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Journal

Am J Hum Genet 84:307-15 (2009)
DOI:10.1016/j.ajhg.2009.01.021

Reference

PMID:29100092 (SMDCF)

Authors

Lee CS, Fu H, Baratang N, Rousseau J, Kumra H, Sutton VR, Niceta M, Ciolfi A, Yamamoto G, Bertola D, Marcelis CL, Lugtenberg D, Bartuli A, Kim C, Hoover-Fong J, Sobreira N, Pauli R, Bacino C, Krakow D, Parboosingh J, Yap P, Kariminejad A, McDonald MT, Aracena MI, Lausch E, Unger S, Superti-Furga A, Lu JT, Cohn DH, Tartaglia M, Lee BH, Reinhardt DP, Campeau PM

Title

Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with "Corner Fractures".

Journal

Am J Hum Genet 101:815-823 (2017)
DOI:10.1016/j.ajhg.2017.09.019

Reference

PMID:20503334 (SMDAX)

Authors

Isidor B, Baron S, Khau van Kien P, Bertrand AM, David A, Le Merrer M

Title

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy.

Journal

Am J Med Genet A 152A:1550-4 (2010)
DOI:10.1002/ajmg.a.33397

Reference

Authors

Matsubayashi S, Ikema M, Ninomiya Y, Yamaguchi K, Ikegawa S, Nishimura G

Title

COL2A1 Mutation in Spondylometaphyseal Dysplasia Algerian Type.

Journal

Mol Syndromol 4:148-51 (2013)
DOI:10.1159/000346644

Reference

PMID:29122926 (SMDCD)

Authors

Ben-Salem S, Robbins SM, Lm Sobreira N, Lyon A, Al-Shamsi AM, Islam BK, Akawi NA, John A, Thachillath P, Al Hamed S, Valle D, Ali BR, Al-Gazali L

Title

Defect in phosphoinositide signalling through a homozygous variant in PLCB3 causes a new form of spondylometaphyseal dysplasia with corneal dystrophy.

Journal

J Med Genet 55:122-130 (2018)
DOI:10.1136/jmedgenet-2017-104827

Reference

PMID:34782440 (SMDP)

Authors

Pagnamenta AT, Diaz-Gonzalez F, Banos-Pinero B, Ferla MP, Toosi MB, Calder AD, Karimiani EG, Doosti M, Wainwright A, Wordsworth P, Bailey K, Ejeskar K, Lester T, Maroofian R, Heath KE, Tajsharghi H, Shears D, Taylor JC

Title

Variable skeletal phenotypes associated with biallelic variants in PRKG2.

Journal

J Med Genet 59:947-950 (2022)
DOI:10.1136/jmedgenet-2021-108027

LinkDB

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