KEGG DISEASE: Mandibuloacral dysplasia

DISEASE: Mandibuloacral dysplasia

Entry

H00665                      Disease

Name

Mandibuloacral dysplasia

Subgroup

Mandibuloacral dysplasia progeroid syndrome (MDPS)

Supergrp

Lipodystrophy [DS:H01475]
Progeroid laminopathy [DS:H02677]

Description

Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by postnatal growth retardation, hypoplasia of the mandible and clavicles, acro-osteolysis, and partial lipodystrophy. Affected individuals have a normal appearance at birth, then progressively develop dysmorphic skeletal features. Mutations in LMNA or ZMPSTE24 are responsible for the disorder. Recently, a novel MAD progeroid syndrome due to recessive mutations in MTX2 has been reported. MTX2 encodes an outer mitochondrial membrane protein.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD27  Syndromes with skin or mucosal anomalies as a major feature
    H00665  Mandibuloacral dysplasia
Pathway-based classification of diseases [BR:br08402]
Cellular process
  nt06539  Cytoskeleton in muscle cells
   H00665  Mandibuloacral dysplasia

Pathway

hsa04820

Cytoskeleton in muscle cells

Network

nt06539 Cytoskeleton in muscle cells

Gene

(MADA) LMNA [HSA:4000] [KO:K12641]
(MADB) ZMPSTE24 [HSA:10269] [KO:K06013]
(MDPS) MTX2 [HSA:10651] [KO:K17776]

Other DBs

ICD-11:

ICD-10:

MeSH:

OMIM:

Reference

PMID:20182615

Authors

Worman HJ, Ostlund C, Wang Y

Title

Diseases of the nuclear envelope.

Journal

Cold Spring Harb Perspect Biol 2:a000760 (2010)
DOI:10.1101/cshperspect.a000760

Reference

PMID:17467691

Authors

Worman HJ, Bonne G

Title

"Laminopathies": a wide spectrum of human diseases.

Journal

Exp Cell Res 313:2121-33 (2007)
DOI:10.1016/j.yexcr.2007.03.028

Reference

PMID:16364671

Authors

Jacob KN, Garg A

Title

Laminopathies: multisystem dystrophy syndromes.

Journal

Mol Genet Metab 87:289-302 (2006)
DOI:10.1016/j.ymgme.2005.10.018

Reference

PMID:12075506 (MADA)

Authors

Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G

Title

Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Journal

Am J Hum Genet 71:426-31 (2002)
DOI:10.1086/341908

Reference

PMID:20814950 (MADB)

Authors

Ahmad Z, Zackai E, Medne L, Garg A

Title

Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24.

Journal

Am J Med Genet A 152A:2703-10 (2010)
DOI:10.1002/ajmg.a.33664

Reference

PMID:32917887 (MDPS)

Authors

Elouej S, Harhouri K, Le Mao M, Baujat G, Nampoothiri S, Kayserili H, Menabawy NA, Selim L, Paneque AL, Kubisch C, Lessel D, Rubinsztajn R, Charar C, Bartoli C, Airault C, Deleuze JF, Rotig A, Bauer P, Pereira C, Loh A, Escande-Beillard N, Muchir A, Martino L, Gruenbaum Y, Lee SH, Manivet P, Lenaers G, Reversade B, Levy N, De Sandre-Giovannoli A

Title

Loss of MTX2 causes mandibuloacral dysplasia and links mitochondrial dysfunction to altered nuclear morphology.

Journal

Nat Commun 11:4589 (2020)
DOI:10.1038/s41467-020-18146-9

» Japanese version

All links

Network (2)   
   KEGG NETWORK (1)   
   KEGG VARIANT (1)   
Disease (3)   
   OMIM (3)   
Gene (6)   
   KEGG ORTHOLOGY (3)   
   KEGG GENES (3)   
Literature (6)   
   PubMed (6)   
All databases (17)   

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