KEGG DISEASE: Acromesomelic dysplasia

DISEASE: Acromesomelic dysplasia

Entry

H02543                      Disease

Name

Acromesomelic dysplasia

Subgroup

Acromesomelic dysplasia, Maroteaux type (AMD1) [DS:H00470]
Grebe dysplasia (AMD2) [DS:H00466]
Acromesomelic dysplasia 2B (AMD2B) [DS:H00467]
Acromesomelic dysplasia, Demirhan type (AMD3) [DS:H00468]

Description

Acromesomelic dysplasia (AMD) is a group of autosomal recessive form of skeletal disorders characterized by dwarfism associated with anomalies of middle and distal segments of the extremities. Mutations in four genes (GDF5, NPR2, BMPR1B, and PRKG2) have been reported to cause different forms of AMD.

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
    H02543  Acromesomelic dysplasia
Pathway-based classification of diseases [BR:br08402]
Signal transduction
  nt06507  TGFB signaling
   H02543  Acromesomelic dysplasia
Endocrine system
  nt06325  Hormone/cytokine signaling
   H02543  Acromesomelic dysplasia

Pathway

hsa04022

cGMP-PKG signaling pathway

hsa04350

TGF-beta signaling pathway

hsa04390

Hippo signaling pathway

Network

nt06325 Hormone/cytokine signaling
nt06507 TGFB signaling

Gene

(AMD1) NPR2 [HSA:4882] [KO:K12324]
(AMD2) GDF5 [HSA:8200] [KO:K04664]
(AMD3) BMPR1B [HSA:658] [KO:K13578]
(AMD4) PRKG2 [HSA:5593] [KO:K19477]

Other DBs

ICD-11:

LD24.9

ICD-10:

Q77.8

OMIM:

602875 200700 228900 201250 609441 619636

Reference

PMID:26926249 (AMD1-3)

Authors

Khan S, Basit S, Khan MA, Muhammad N, Ahmad W

Title

Genetics of human isolated acromesomelic dysplasia.

Journal

Eur J Med Genet 59:198-203 (2016)
DOI:10.1016/j.ejmg.2016.02.011

Reference

PMID:33106379 (AMD4)

Authors

Diaz-Gonzalez F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montane L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldan B, Nishimura G, Offiah AC, Faruq M, Heath KE

Title

Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.

Journal

J Med Genet jmedgenet-2020-107177 (2020)
DOI:10.1136/jmedgenet-2020-107177

LinkDB

» Japanese version

DISEASE: Short stature with nonspecific skeletal abnormalities

Entry

H02681                      Disease

Name

Short stature with nonspecific skeletal abnormalities

Description

Short stature with nonspecific skeletal abnormalities (SNSK) is characterized by short stature defined as a height less than 2 SD below normal, no endocrine abnormalities. SNSK is caused by heterozygous mutation in the NPR2 gene.