KEGG DISEASE: Geleophysic dysplasia

DISEASE: Geleophysic dysplasia

Entry

H00900                      Disease

Name

Geleophysic dysplasia

Description

Geleophysic dysplasia (GPHYSD) is an autosomal recessive disorder resembling a lysosomal storage disorder. It is characterized by short stature, short hands and feet due to short, plump tubular bones, stiff joints, distinctive facial features, and progressive valvular cardiac disease.

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
    H00900  Geleophysic dysplasia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H00900  Geleophysic dysplasia
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00900  Geleophysic dysplasia
  nt06548  Integrin signaling
   H00900  Geleophysic dysplasia

Pathway

hsa04350

TGF-beta signaling pathway

hsa04820

Cytoskeleton in muscle cells

hsa04518

Integrin signaling

Network

nt06507 TGFB signaling
nt06539 Cytoskeleton in muscle cells
nt06548 Integrin signaling

Gene

(GPHYSD1) ADAMTSL2 [HSA:9719] [KO:K24430]
(GPHYSD2) FBN1 [HSA:2200] [KO:K06825]
(GPHYSD3) LTBP3 [HSA:4054] [KO:K08023]

Other DBs

ICD-11:

LD24.8Y

MeSH:

C535662

OMIM:

231050 614185 617809

Reference

PMID:6507495

Authors

Spranger J, Gilbert EF, Arya S, Hoganson GM, Opitz JM

Title

Geleophysic dysplasia.

Journal

Am J Med Genet 19:487-99 (1984)
DOI:10.1002/ajmg.1320190310

Reference

PMID:21415077 (ADAMTSL2)

Authors

Allali S, Le Goff C, Pressac-Diebold I, Pfennig G, Mahaut C, Dagoneau N, Alanay Y, Brady AF, Crow YJ, Devriendt K, Drouin-Garraud V, Flori E, Genevieve D, Hennekam RC, Hurst J, Krakow D, Le Merrer M, Lichtenbelt KD, Lynch SA, Lyonnet S, MacDermot K, Mansour S, Megarbane A, Santos HG, Splitt M, Superti-Furga A, Unger S, Williams D, Munnich A, Cormier-Daire V

Title

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia.

Journal

J Med Genet 48:417-21 (2011)
DOI:10.1136/jmg.2010.087544

Reference

PMID:21683322 (FBN1)

Authors

Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PO, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Megarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V

Title

Mutations in the TGFbeta binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

Journal

Am J Hum Genet 89:7-14 (2011)
DOI:10.1016/j.ajhg.2011.05.012

Reference

PMID:27068007 (LTBP3)

Authors

McInerney-Leo AM, Le Goff C, Leo PJ, Kenna TJ, Keith P, Harris JE, Steer R, Bole-Feysot C, Nitschke P, Kielty C, Brown MA, Zankl A, Duncan EL, Cormier-Daire V

Title

Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia.

Journal

J Med Genet 53:457-64 (2016)
DOI:10.1136/jmedgenet-2015-103647

LinkDB

» Japanese version

DISEASE: Tooth agenesis

Entry

H00625                      Disease

Name

Tooth agenesis;
Hypodontia

Subgroup

Dental anomalies and short stature (DASS)

Description

Tooth agenesis, or hypodontia/oligodontia, refers to the congenital absence of a few teeth without any systemic disorders. Tooth development is a complex process that involves interactions between the oral epithelium and underlying mesenchyme. Perturbation of this process results in tooth agenesis. This disease could be inherited as either an autosomal dominant, autosomal recessive, or X-linked trait.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Structural developmental anomalies primarily affecting one body system
   Structural developmental anomalies of the face, mouth or teeth
    LA30  Structural developmental anomalies of teeth and periodontal tissues
     H00625  Tooth agenesis
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06505  WNT signaling
   H00625  Tooth agenesis
  nt06507  TGFB signaling
   H00625  Tooth agenesis
  nt06516  TNF signaling
   H00625  Tooth agenesis

Pathway

hsa04310

Wnt signaling pathway

hsa04350

TGF-beta signaling pathway

hsa04064

NF-kappa B signaling pathway

Network

nt06505 WNT signaling
nt06507 TGFB signaling
nt06516 TNF signaling

Gene

(STHAG1) MSX1 [HSA:4487] [KO:K09341]
(STHAG3) PAX9 [HSA:5083] [KO:K09382]
(STHAG4) WNT10A [HSA:80326] [KO:K01357]
(STHAG7) LRP6 [HSA:4040] [KO:K03068]
(STHAG8) WNT10B [HSA:7480] [KO:K01357]
(STHAG9) GREM2 [HSA:64388] [KO:K23318]
(STHAG10) TSPEAR [HSA:54084] [KO:K24437]
(STHAGX1) EDA [HSA:1896] [KO:K05480]
(DASS) LTBP3 [HSA:4054] [KO:K08023]

Other DBs

ICD-11:

LA30.1

MeSH:

D000848

OMIM:

106600 604625 150400 616724 617073 617275 620173 313500 601216

Reference

PMID:29969831

Authors

Yu M, Wong SW, Han D, Cai T

Title

Genetic analysis: Wnt and other pathways in nonsyndromic tooth agenesis.

Journal

Oral Dis 25:646-651 (2019)
DOI:10.1111/odi.12931

Reference

PMID:8696335 (STHAG1)

Authors

Vastardis H, Karimbux N, Guthua SW, Seidman JG, Seidman CE

Title

A human MSX1 homeodomain missense mutation causes selective tooth agenesis.

Journal

Nat Genet 13:417-21 (1996)
DOI:10.1038/ng0896-417

Reference

PMID:10615120 (STHAG3)

Authors

Stockton DW, Das P, Goldenberg M, D'Souza RN, Patel PI

Title

Mutation of PAX9 is associated with oligodontia.

Journal

Nat Genet 24:18-9 (2000)
DOI:10.1038/71634

Reference

PMID:24449199 (STHAG4)

Authors

Arzoo PS, Klar J, Bergendal B, Norderyd J, Dahl N

Title

WNT10A mutations account for (1/4) of population-based isolated oligodontia and show phenotypic correlations.

Journal

Am J Med Genet A 164A:353-9 (2014)
DOI:10.1002/ajmg.a.36243

Reference

PMID:26387593 (STHAG7)

Authors

Massink MP, Creton MA, Spanevello F, Fennis WM, Cune MS, Savelberg SM, Nijman IJ, Maurice MM, van den Boogaard MJ, van Haaften G

Title

Loss-of-Function Mutations in the WNT Co-receptor LRP6 Cause Autosomal-Dominant Oligodontia.

Journal

Am J Hum Genet 97:621-6 (2015)
DOI:10.1016/j.ajhg.2015.08.014

Reference

PMID:27321946 (STHAG8)

Authors

Yu P, Yang W, Han D, Wang X, Guo S, Li J, Li F, Zhang X, Wong SW, Bai B, Liu Y, Du J, Sun ZS, Shi S, Feng H, Cai T

Title

Mutations in WNT10B Are Identified in Individuals with Oligodontia.

Journal

Am J Hum Genet 99:195-201 (2016)
DOI:10.1016/j.ajhg.2016.05.012

Reference

PMID:26416033 (STHAG9)

Authors

Kantaputra PN, Kaewgahya M, Hatsadaloi A, Vogel P, Kawasaki K, Ohazama A, Ketudat Cairns JR

Title

GREMLIN 2 Mutations and Dental Anomalies.

Journal

J Dent Res 94:1646-52 (2015)
DOI:10.1177/0022034515608168

Reference

PMID:30046887 (STHAG10)

Authors

Du R, Dinckan N, Song X, Coban-Akdemir Z, Jhangiani SN, Guven Y, Aktoren O, Kayserili H, Petty LE, Muzny DM, Below JE, Boerwinkle E, Wu N, Gibbs RA, Posey JE, Lupski JR, Letra A, Uyguner ZO

Title

Identification of likely pathogenic and known variants in TSPEAR, LAMB3, BCOR, and WNT10A in four Turkish families with tooth agenesis.

Journal

Hum Genet 137:689-703 (2018)
DOI:10.1007/s00439-018-1907-y

Reference

PMID:16583127 (STHAGX1)

Authors

Tao R, Jin B, Guo SZ, Qing W, Feng GY, Brooks DG, Liu L, Xu J, Li T, Yan Y, He L

Title

A novel missense mutation of the EDA gene in a Mongolian family with congenital hypodontia.

Journal

J Hum Genet 51:498-502 (2006)
DOI:10.1007/s10038-006-0389-2

Reference

PMID:19344874 (DASS)

Authors

Noor A, Windpassinger C, Vitcu I, Orlic M, Rafiq MA, Khalid M, Malik MN, Ayub M, Alman B, Vincent JB

Title

Oligodontia is caused by mutation in LTBP3, the gene encoding latent TGF-beta binding protein 3.

Journal

Am J Hum Genet 84:519-23 (2009)
DOI:10.1016/j.ajhg.2009.03.007

LinkDB

» Japanese version

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