MAD
MCID: MND007
MIFTS: 55

Mandibuloacral Dysplasia (MAD) malady

Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases categories

Summaries for Mandibuloacral Dysplasia

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21Genetics Home Reference, 63Wikipedia, 46OMIM, 32MalaCards
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Genetics Home Reference:21 Mandibuloacral dysplasia is a condition that causes a variety of abnormalities involving bone development, skin coloring (pigmentation), and fat distribution. People with this condition may grow slowly after birth. Most affected individuals are born with an underdeveloped lower jaw bone (mandible) and small collar bones (clavicles), leading to the characteristic features of a small chin and sloped shoulders. Other bone problems include loss of bone from the tips of the fingers (acroosteolysis), which causes bulbous finger tips; delayed closure of certain skull bones; and joint deformities (contractures).

MalaCards: Mandibuloacral Dysplasia, also known as mandibuloacral dysostosis, is related to lipodystrophy and progeria, and has symptoms including high vaulted/narrow palate, anomalies of teeth and dentition and hearing loss/hypoacusia/deafness. An important gene associated with Mandibuloacral Dysplasia is LMNA (lamin A/C), and among its related pathways are Initiation of Nuclear Envelope Reformation and superpathway of geranylgeranyldiphosphate biosynthesis I (via mevalonate). The compounds hydroxamate and gw9662 have been mentioned in the context of this disorder. Affiliated tissues include skin, bone and breast, and related mouse phenotypes are adipose tissue and limbs/digits/tail.

Wikipedia:63 Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,... more...

Description from OMIM:46 248370

Aliases & Classifications for Mandibuloacral Dysplasia

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Sources:
42NIH Rare Diseases, 20GeneTests, 22GTR, 21Genetics Home Reference, 46OMIM, 44Novoseek, 48Orphanet, 60UMLS, 35MESH via Orphanet, 26ICD10 via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Bone diseases, Skin diseases, Endocrine diseases


Characteristics (Orphanet epidemiological data):

48
mandibuloacral dysplasia with type a lipodystrophy:
Inheritance: Autosomal recessive


Aliases & Descriptions:

mandibuloacral dysplasia 42 20 22 21 46 44
mandibuloacral dysostosis 21 60
mandibuloacral dysplasia with type a lipodystrophy 48
mad 42


External Ids:

OMIM46 248370
MESH via Orphanet35 C535705
ICD10 via Orphanet26 Q87.5

Related Diseases for Mandibuloacral Dysplasia

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17GeneCards, 18GeneDecks
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Diseases related to Mandibuloacral Dysplasia via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 80)
idRelated DiseaseScoreTop Affiliating Genes
1lipodystrophy30.6ZMPSTE24, PPARG, BSCL2, AGPAT2, INS, LMNA
2progeria30.6LMNA, RCE1, BANF1, ZMPSTE24
3familial partial lipodystrophy30.3LMNA, INS, AGPAT2, BSCL2, PPARG
4diabetes mellitus30.3LMNA, INS, PPARG, BSCL2, MMP9
5myopathy30.1LMNA, INS
6neuropathy29.8INS, LMNA
7mandibuloacral dysplasia with type b lipodystrophy10.6
8mandibuloacral dysplasia with type a lipodystrophy10.3
9bovine spongiform encephalopathy10.3
10myxedema10.3
11mandibulofacial dysostosis with microcephaly10.2
12schizophrenia10.1
13focal segmental glomerulosclerosis10.1
14focal glomerulosclerosis10.1
15cleidocranial dysplasia10.1
16muscular dystrophy10.1
17scleroderma10.1
18melancholia10.0
19antisocial personality disorder10.0
20creutzfeldt-jakob syndrome10.0
21hypothyroidism10.0
22personality disorder10.0
23prion disease10.0
24variant creutzfeldt-jakob disease10.0
25dilated cardiomyopathy10.0LMNA
26tight skin contracture syndrome, lethal10.0ZMPSTE24, LMNA
27leukemia10.0BANF1
28distal hereditary motor neuropathy10.0AGPAT2
29berardinelli-seip congenital lipodystrophy10.0BSCL2, AGPAT2
30pituitary tumors10.0PPARG
31salivary gland cancer10.0PPARG
32ovarian cancer10.0AGPAT2, MMP9
33emery-dreifuss muscular dystrophy10.0BANF1, LMNA
34hypercholesterolemia10.0INS
35retinoblastoma10.0LMNA, PPARG
36coronary heart disease10.0INS, LMNA
37diabetic retinopathy10.0INS
38stroke, ischemic10.0INS, MMP9
39prediabetes syndrome10.0PPARG, INS
40idiopathic edema10.0PPARG, INS
41polycystic ovary syndrome10.0LMNA, INS, PPARG
42hyperandrogenism10.0INS, PPARG, LMNA
43glucose intolerance10.0PPARG, LMNA, INS
44hyperinsulinism10.0INS, PPARG, LMNA
45hypertriglyceridemia10.0BSCL2, INS, PPARG
46metabolic syndrome x10.0LMNA, INS, PPARG
47acanthosis nigricans10.0INS, LMNA, BSCL2, AGPAT2
48congenital heart defect10.0PPARG, INS, MMP9
49vascular disease10.0MMP9, INS, PPARG
50type 2 diabetes mellitus10.0PPARG, INS, LMNA

Graphical network of the top 20 diseases related to Mandibuloacral Dysplasia:



Diseases related to mandibuloacral dysplasia

Clinical Features for Mandibuloacral Dysplasia

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46OMIM, 48Orphanet
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Clinical features from OMIM:

248370

Clinical synopsis from OMIM:

248370

Symptoms:

48 (show all 28)
  • high vaulted/narrow palate
  • anomalies of teeth and dentition
  • hearing loss/hypoacusia/deafness
  • breast tissue/mammary gland absence/aplasia
  • tight skin/lack of elasticity
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • hypotonia
  • muscle anomalies
  • anomalies of cartilages, joints and periarticular tissue
  • articular/joint pain/arthralgia
  • autosomal recessive inheritance
  • anomalies of eyelids, eyelashes and lacrimal system
  • cataract/lens opacification
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • wormian bones
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • clavicle absent/abnormal
  • terminal/third phalangeal bone of fingers hypoplasia
  • skin hypoplasia/aplasia/atrophy
  • alopecia
  • osteolysis/osteoclasia/bone destruction/erosions
  • restricted joint mobility/joint stiffness/ankylosis
  • short stature/dwarfism/nanism
  • premature ageing
  • proptosis/exophthalmos
  • eyebrows anomalies
  • insulin resistance
  • large fontanelle/delayed fontanelle closure

Drugs & Therapeutics for Mandibuloacral Dysplasia

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Sources:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials, 60UMLS, 40NDF-RT
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Approved drugs:

Search CenterWatch for Mandibuloacral Dysplasia

Drug clinical trials:

Search ClinicalTrials for Mandibuloacral Dysplasia

Search NIH Clinical Center for Mandibuloacral Dysplasia

Search CenterWatch for Mandibuloacral Dysplasia

Genetic Tests for Mandibuloacral Dysplasia

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20GeneTests, 22GTR
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Genetic tests related to Mandibuloacral Dysplasia:

id Genetic test Affiliating Genes
1 Mandibuloacral Dysplasia20 22 ZMPSTE24

Anatomical Context for Mandibuloacral Dysplasia

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32MalaCards
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MalaCards organs/tissues related to Mandibuloacral Dysplasia:

32
Skin, Bone, Breast

Animal Models for Mandibuloacral Dysplasia or affiliated genes

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36MGI
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Publications for Mandibuloacral Dysplasia

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Genetic Variations for Mandibuloacral Dysplasia

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Mandibuloacral Dysplasia:

62
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg527HisVAR_018727
2LMNAp.Ala529ValVAR_034709
3LMNAp.Ser573LeuVAR_039789

Expression for genes affiliated with Mandibuloacral Dysplasia

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1BioGPS, 15Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mandibuloacral Dysplasia

Search GEO for disease gene expression data for Mandibuloacral Dysplasia.

Pathways for genes affiliated with Mandibuloacral Dysplasia

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53Reactome, 37NCBI BioSystems Database, 29KEGG
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Pathways related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
9.6LMNA, BANF1
2
Hide members
9.3RCE1, ZMPSTE24
38.2LMNA, PPARG, BSCL2, ZMPSTE24, AGPAT2, INS

Compounds for genes affiliated with Mandibuloacral Dysplasia

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Sources:
44Novoseek, 28IUPHAR, 49PharmGKB, 11DrugBank, 59Tocris Bioscience, 2BitterDB, 24HMDB
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Compounds related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

(show all 26)
idCompoundScoreTop Affiliating Genes
1hydroxamate449.9MMP9, ZMPSTE24
2gw966244 2810.9MMP9, PPARG
3actos449.9INS, PPARG
4irbesartan44 28 49 1112.9MMP9, PPARG
5hbig449.9PPARG, INS
6mitiglinide44 1110.8INS, PPARG
7glipizide44 1110.8INS, PPARG
8indinavir44 49 1111.8LMNA, PPARG
9acarbose44 1110.8INS, PPARG
10repaglinide44 49 1111.8INS, PPARG
11glimepiride44 49 1111.8INS, PPARG
12nateglinide44 49 1111.8PPARG, INS
13telmisartan44 28 1111.8INS, PPARG
14orlistat44 59 1111.7INS, PPARG
15ciglitazone44 2810.7MMP9, PPARG
16gemfibrozil44 28 1111.7PPARG, INS
17thiazolidinedione449.6PPARG, INS
18niacin44 1110.5INS, PPARG
198-isoprostane449.4MMP9, INS
201,10-phenanthroline44 210.4MMP9, ZMPSTE24
21fenofibrate44 49 1111.4MMP9, INS, PPARG
22pioglitazone44 49 28 1112.4PPARG, INS, MMP9
23troglitazone44 28 59 1112.4PPARG, INS, MMP9
24rosiglitazone44 49 28 11 2413.2LMNA, MMP9, INS, PPARG
25cholesterol44 28 11 2412.1PPARG, ZMPSTE24, INS, LMNA
26zinc44 249.9ZMPSTE24, CBX1, MMP9, LMNA

GO Terms for genes affiliated with Mandibuloacral Dysplasia

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16Gene Ontology
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Biological processes related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1mitotic nuclear envelope disassemblyGO:0070779.6LMNA, BANF1
2negative regulation of acute inflammatory responseGO:0026749.5INS, PPARG
3mitotic nuclear envelope reassemblyGO:0070849.5BANF1, LMNA
4CAAX-box protein processingGO:0715869.4RCE1, ZMPSTE24
5negative regulation of lipid catabolic processGO:0509959.3INS, BSCL2

Molecular functions related to Mandibuloacral Dysplasia according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:0042228.9MMP9, RCE1, ZMPSTE24

Products for genes affiliated with Mandibuloacral Dysplasia

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Mandibuloacral Dysplasia

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet