MCID: MND007
MIFTS: 53

Mandibuloacral Dysplasia malady

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal diseases

Aliases & Classifications for Mandibuloacral Dysplasia

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Sources:
49OMIM, 11diseasecard, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 51Orphanet, 24GTR, 67UniProtKB/Swiss-Prot, 65UMLS, 66UMLS via Orphanet, 28ICD10 via Orphanet, 37MESH via Orphanet, 34MedGen, 36MeSH, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Mandibuloacral Dysplasia:

Name: Mandibuloacral Dysplasia 49 11 45 22 23 47 51 24
Mandibuloacral Dysplasia with Type a Lipodystrophy 45 51 67
Mandibuloacral Dysostosis 23 24 65
Craniomandibular Dermatodysostosis 22 67
Mada 45 67
 
Mad 45 51
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 45
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia 67
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical 67
Tendinous Calcinosis Arthropathy and Progeroid Features 67

Characteristics:

Orphanet epidemiological data:

51
mandibuloacral dysplasia:
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy
mandibuloacral dysplasia with type a lipodystrophy:
Inheritance: Autosomal recessive

HPO:

61
mandibuloacral dysplasia:
Onset and clinical course: juvenile onset
Inheritance: heterogeneous, autosomal recessive inheritance


Classifications:



External Ids:

OMIM49 248370
Orphanet51 2457, 90153
UMLS via Orphanet66 C0432291
ICD10 via Orphanet28 Q87.5
MESH via Orphanet37 C535705
UMLS65 C0432291

Summaries for Mandibuloacral Dysplasia

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OMIM:49 Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth... (248370) more...

MalaCards based summary: Mandibuloacral Dysplasia, also known as mandibuloacral dysplasia with type a lipodystrophy, is related to hutchinson-gilford progeria and mandibuloacral dysplasia with type b lipodystrophy, and has symptoms including short distal phalanx of finger, aplasia/hypoplasia of the skin and prematurely aged appearance. An important gene associated with Mandibuloacral Dysplasia is LMNA (Lamin A/C), and among its related pathways are Initiation of Nuclear Envelope Reformation and Adipogenesis. Affiliated tissues include skin, bone and breast, and related mouse phenotypes are limbs/digits/tail and adipose tissue.

UniProtKB/Swiss-Prot:67 Mandibuloacral dysplasia with type A lipodystrophy: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, progeroid appearance, partial alopecia, soft tissue calcinosis, joint contractures, and partial lipodystrophy with loss of subcutaneous fat from the extremities. Adipose tissue in the face, neck and trunk is normal or increased.

Genetics Home Reference:23 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).

Wikipedia:68 Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,... more...

Related Diseases for Mandibuloacral Dysplasia

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Diseases related to Mandibuloacral Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 55)
idRelated DiseaseScoreTop Affiliating Genes
1hutchinson-gilford progeria30.9LMNA, ZMPSTE24
2mandibuloacral dysplasia with type b lipodystrophy12.8
3adenosine monophosphate deaminase 1 deficiency11.5
4cleidocranial dysplasia10.5
5pancreatitis10.3
6thyroiditis10.3
7restrictive dermopathy, lethal10.2LMNA, ZMPSTE24
8renal cell carcinoma10.2
9wolfram syndrome10.2
10moebius syndrome10.2
11pancreatic cancer10.2
12primary biliary cirrhosis10.2
13skin disease10.2
14chikungunya10.2
15lymphoma10.2
16pleurisy10.2
17nephrosclerosis10.2
18cryptococcosis10.2
19urethritis10.2
20low tension glaucoma10.2
21photokeratitis10.2
22personality disorder10.2
23diffuse scleroderma10.2
24neuroendocrine tumor10.2
25thyroid cancer10.2
26urethral stricture10.2
27acute interstitial pneumonia10.2
28pleomorphic adenoma10.2
29pneumonia10.2
30mitral valve disease10.2
31adenoma10.2
32influenza10.2
33encephalitis10.2
34muscular dystrophy10.2
35myotonic dystrophy10.2
36heterotaxy10.2
37lichen sclerosus10.2
38limbic encephalitis10.2
39primary malignant lymphoma10.2
40pulmonary sequestration10.2
41occipital neuralgia10.2
42encephalopathy, progressive, with or without lipodystrophy10.1BSCL2, LMNA
43syringomyelia10.1LMNA, ZMPSTE24
44lyme disease10.1BANF1, LMNA
45candidiasis, familial, 2, autosomal recessive10.0AGPAT2, LMNA
46sporadic fetal brain disruption sequence10.0BANF1, LMNA, ZMPSTE24
47pancreatic serous cystadenoma9.9BANF1, LMNA, ZMPSTE24
48best vitelliform macular dystrophy9.9AGPAT2, BSCL2
49corneal disease9.8AGPAT2, BSCL2
50x-linked hypophosphatemic rickets9.8AGPAT2, BSCL2, LMNA

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



Diseases related to mandibuloacral dysplasia

Symptoms for Mandibuloacral Dysplasia

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Symptoms by clinical synopsis from OMIM:

248370

Clinical features from OMIM:

248370

Symptoms:

 51 (show all 48)
  • skull/cranial anomalies
  • large fontanelle/delayed fontanelle closure
  • face/facial anomalies
  • micrognathia/retrognathia/micrognathism/retrognathism
  • hypoplastic mandibula/partial absence of the mandibula
  • beaked nose
  • clavicle absent/abnormal
  • lipoatrophy
  • abnormal pigmentary skin changes/skin pigmentation anomalies
  • irregular/patchy skin hypopigmentation
  • dysostosis/chondrodysplasia/osteodysplasia/osteochondrosis/skeletal dysplasia
  • articular/joint pain/arthralgia
  • restricted joint mobility/joint stiffness/ankylosis
  • autosomal recessive inheritance
  • short stature/dwarfism/nanism
  • failure to thrive/difficulties for feeding in infancy/growth delay
  • premature ageing
  • cataract/lens opacification
  • eyebrows anomalies
  • anomalies of eyelids, eyelashes and lacrimal system
  • short/small nose
  • anomalies of mouth, lip and philtrum
  • microstomia/little mouth
  • anomalies of teeth and dentition
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • hearing loss/hypoacusia/deafness
  • thin skin
  • tight skin/lack of elasticity
  • hypotrichosis/atrichia/atrichiasis/scalp hairlessness
  • alopecia
  • nails anomalies
  • hypotonia
  • myopathy
  • muscle weakness/flaccidity
  • contractures/cramps/trismus/tetania/claudication/opisthotonos
  • osteolysis/osteoclasia/bone destruction/erosions
  • periarticular tissue anomaly/extraarticular calcifications
  • insulin resistance
  • hyperlipidemia/hypercholesterolemia/hypertriglyceridemia
  • early death/lethality
  • wormian bones
  • terminal/third phalangeal bone of fingers hypoplasia
  • skin hypoplasia/aplasia/atrophy
  • proptosis/exophthalmos
  • high vaulted/narrow palate
  • breast tissue/mammary gland absence/aplasia
  • muscle anomalies
  • anomalies of cartilages, joints and periarticular tissue

HPO human phenotypes related to Mandibuloacral Dysplasia:

(show all 80)
id Description Frequency HPO Source Accession
1 short distal phalanx of finger hallmark (90%) HP:0009882
2 aplasia/hypoplasia of the skin hallmark (90%) HP:0008065
3 prematurely aged appearance hallmark (90%) HP:0007495
4 short stature hallmark (90%) HP:0004322
5 osteolysis hallmark (90%) HP:0002797
6 wormian bones hallmark (90%) HP:0002645
7 alopecia hallmark (90%) HP:0001596
8 limitation of joint mobility hallmark (90%) HP:0001376
9 abnormality of the clavicle hallmark (90%) HP:0000889
10 abnormality of the teeth hallmark (90%) HP:0000164
11 abnormality of the fontanelles or cranial sutures hallmark (90%) HP:0000235
12 micrognathia hallmark (90%) HP:0000347
13 convex nasal ridge hallmark (90%) HP:0000444
14 hypopigmented skin patches hallmark (90%) HP:0001053
15 skeletal dysplasia hallmark (90%) HP:0002652
16 arthralgia hallmark (90%) HP:0002829
17 lipoatrophy hallmark (90%) HP:0100578
18 abnormality of lipid metabolism typical (50%) HP:0003119
19 insulin resistance typical (50%) HP:0000855
20 abnormality of the eyebrow typical (50%) HP:0000534
21 proptosis typical (50%) HP:0000520
22 narrow mouth typical (50%) HP:0000160
23 abnormality of the teeth typical (50%) HP:0000164
24 hearing impairment typical (50%) HP:0000365
25 cataract typical (50%) HP:0000518
26 chondrocalcinosis typical (50%) HP:0000934
27 thin skin typical (50%) HP:0000963
28 muscular hypotonia typical (50%) HP:0001252
29 muscle weakness typical (50%) HP:0001324
30 flexion contracture typical (50%) HP:0001371
31 alopecia typical (50%) HP:0001596
32 abnormality of the nail typical (50%) HP:0001597
33 osteolysis typical (50%) HP:0002797
34 short nose typical (50%) HP:0003196
35 myopathy typical (50%) HP:0003198
36 lack of skin elasticity typical (50%) HP:0100679
37 breast aplasia occasional (7.5%) HP:0100783
38 lack of skin elasticity occasional (7.5%) HP:0100679
39 arthralgia occasional (7.5%) HP:0002829
40 muscular hypotonia occasional (7.5%) HP:0001252
41 abnormality of skin pigmentation occasional (7.5%) HP:0001000
42 cataract occasional (7.5%) HP:0000518
43 hearing impairment occasional (7.5%) HP:0000365
44 abnormality of the palate occasional (7.5%) HP:0000174
45 abnormality of the teeth occasional (7.5%) HP:0000164
46 insulin resistance occasional (7.5%) HP:0000855
47 abnormality of lipid metabolism occasional (7.5%) HP:0003119
48 osteolytic defects of the distal phalanges of the hand HP:0009839
49 lipodystrophy HP:0009125
50 postnatal growth retardation HP:0008897
51 premature loss of teeth HP:0006480
52 dermal atrophy HP:0004334
53 calcinosis HP:0003761
54 loss of subcutaneous adipose tissue in limbs HP:0003635
55 hyperlipidemia HP:0003077
56 hyperglycemia HP:0003074
57 wormian bones HP:0002645
58 sparse scalp hair HP:0002209
59 acroosteolysis of distal phalanges (feet) HP:0001870
60 alopecia HP:0001596
61 joint stiffness HP:0001387
62 flexion contracture HP:0001371
63 mottled pigmentation HP:0001070
64 decreased subcutaneous fat HP:0001002
65 progressive clavicular acroosteolysis HP:0000905
66 short clavicles HP:0000894
67 hyperinsulinemia HP:0000842
68 glucose intolerance HP:0000833
69 insulin-resistant diabetes mellitus HP:0000831
70 hypoplasia of teeth HP:0000685
71 dental crowding HP:0000678
72 proptosis HP:0000520
73 increased adipose tissue around the neck HP:0000468
74 narrow nasal ridge HP:0000418
75 micrognathia HP:0000347
76 bird-like facies HP:0000320
77 full cheeks HP:0000293
78 increased facial adipose tissue HP:0000287
79 delayed cranial suture closure HP:0000270
80 high palate HP:0000218

Drugs & Therapeutics for Mandibuloacral Dysplasia

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Mandibuloacral Dysplasia

Genetic Tests for Mandibuloacral Dysplasia

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Genetic tests related to Mandibuloacral Dysplasia:

id Genetic test Affiliating Genes
1 Mandibuloacral Dysplasia22 ZMPSTE24

Anatomical Context for Mandibuloacral Dysplasia

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MalaCards organs/tissues related to Mandibuloacral Dysplasia:

33
Skin, Bone, Breast, Lung, Prostate, Endothelial, Monocytes

Animal Models for Mandibuloacral Dysplasia or affiliated genes

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MGI Mouse Phenotypes related to Mandibuloacral Dysplasia:

38 (show all 13)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053719.0AGPAT2, LMNA, MMP9, ZMPSTE24
2MP:00053758.9AGPAT2, BSCL2, LMNA, ZMPSTE24
3MP:00053698.5LMNA, MMP9, RCE1, ZMPSTE24
4MP:00053818.4AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
5MP:00053678.4AGPAT2, BSCL2, LMNA, MMP9, ZMPSTE24
6MP:00053708.3AGPAT2, BSCL2, LMNA, RCE1, ZMPSTE24
7MP:00107717.7AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
8MP:00053857.7BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
9MP:00053867.6AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
10MP:00053877.6AGPAT2, BSCL2, CBX1, LMNA, MMP9, ZMPSTE24
11MP:00053787.2AGPAT2, BSCL2, LMNA, MMP9, RCE1, ZMPSTE24
12MP:00053766.9AGPAT2, BSCL2, CBX1, LMNA, MMP9, RCE1
13MP:00107686.8AGPAT2, BSCL2, CBX1, LMNA, MMP9, RCE1

Publications for Mandibuloacral Dysplasia

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Articles related to Mandibuloacral Dysplasia:

(show all 48)
idTitleAuthorsYear
1
Malignant transformation in non-recurrent peritoneal cystic mesothelioma Our experience and review of the literature. (27031307)
2016
2
CXCR7 is highly expressed in acute lymphoblastic leukemia and potentiates CXCR4 response to CXCL12. (24497931)
2014
3
Expression, purification, crystallization and preliminary crystallographic study of the cytoplasmic domain of the mitochondrial dynamics protein MiD51. (24817717)
2014
4
Eosinophilic Myocarditis-An Unusual Cause of Left Ventricular Hypertrophy. (25325192)
2014
5
A Study of the Association Between Patterns of Eye Drop Prescription and Medication Usage in Glaucoma Subjects. (23807351)
2013
6
BTG1 deletions do not predict outcome in Down syndrome acute lymphoblastic leukemia. (22868968)
2013
7
Prevalence and risk factors of cerebral lesions in neonates after laser surgery for twin-twin transfusion syndrome. (23021698)
2012
8
Paget's disease of bone presented as normal pressure hydrocephalus: A case report and review of literature. (24250876)
2012
9
Utility of desmoglein ELISA in the clinical correlation and disease monitoring of pemphigus vulgaris. (21981406)
2012
10
Changes in the monocytic subsets CD14(dim)CD16(+) and CD14(++)CD16(-) in chronic systolic heart failure patients. (23226928)
2012
11
Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis. (23026768)
2012
12
Self-management skills in adolescents with chronic rheumatic disease: A cross-sectional survey. (22145642)
2011
13
The sugar ring of the nucleoside is required for productive substrate positioning in the active site of human deoxycytidine kinase (dCK): implications for the development of dCK-activated acyclic guanine analogues. (20684612)
2010
14
Identification and characterization of the type 2C protein phosphatase Ptc4p in the human fungal pathogen Candida albicans. (20014041)
2010
15
Development of an automatic classification system for differentiation of obstructive lung disease using HRCT. (18712567)
2009
16
Networking of differentially expressed genes in human cancer cells resistant to methotrexate. (19732436)
2009
17
A review of the natural history of chronic hepatitis B in the era of transient elastography. (19578234)
2009
18
Cerebrospinal fluid neopterin and cryopyrin-associated periodic syndrome. (19931168)
2009
19
Frequency and distinctive spectrum of KRAS mutations in never smokers with lung adenocarcinoma. (18794081)
2008
20
Bacteriuria in patients with an orthotopic ileal neobladder: urinary tract infection or asymptomatic bacteriuria? (18070190)
2008
21
Clinical, biochemical and molecular findings in seven Polish patients with adenylosuccinate lyase deficiency. (18524658)
2008
22
Nevirapine toxicity in non-HIV cancer patients. (18832820)
2008
23
Expression of indoleamine 2, 3-dioxygenase and the recruitment of Foxp3-expressing regulatory T cells in the development and progression of uterine cervical cancer. (17433037)
2007
24
Severe cranial nerve involvement in a patient with monoclonal anti-MAG/SGPG IgM antibody and localized hard palate amyloidosis. (16546215)
2006
25
Methylenetetrahydrofolate reductase 677 C-T and homocysteine levels in Turkish patients with pseudoexfoliation. (16181277)
2005
26
A comparison of genetic polymorphism in populations of Onchocerca volvulus from untreated- and ivermectin-treated patients. (15885823)
2005
27
A family portrait of the RIO kinases. (16183636)
2005
28
Survival of chronic lymphocytic leukemia cells: CD40L and the vascular endothelial growth factor (VEGF) connection. (15861177)
2005
29
Rhodopsin formation in Drosophila is dependent on the PINTA retinoid-binding protein. (15917458)
2005
30
Characterization of new members of the human type II keratin gene family and a general evaluation of the keratin gene domain on chromosome 12q13.13. (15737194)
2005
31
Methylation of p16 CpG islands associated with malignant transformation of gastric dysplasia in a population-based study. (15297411)
2004
32
Acute occlusion of a simple aortic coarctation presenting as abdominal angina. (14627320)
2003
33
A novel splice variant of the cell adhesion molecule contactin 4 (CNTN4) is mainly expressed in human brain. (12202991)
2002
34
Homocysteine--a risk factor for atherosclerosis]. (11481906)
2001
35
Tumor cell invasion is promoted by activation of protease activated receptor-1 in cooperation with the alpha vbeta 5 integrin. (11278329)
2001
36
Nicotine addiction. (10669423)
2000
37
Delayed dental maturation in cleidocranial dysplasia. (9795736)
1998
38
Nutrient regulation of human intestinal sugar transporter (SGLT1) expression. (9274472)
1997
39
Regulation of the actin cytoskeleton, integrins and cell growth by the Rho family of small GTPases. (8909807)
1996
40
Human chromosome 11 suppresses the tumorigenicity of adenovirus transformed baby rat kidney cells: involvement of the Wilms' tumor 1 gene. (7558457)
1995
41
NFATp, a cyclosporin-sensitive transcription factor implicated in cytokine gene induction. (7722411)
1995
42
The SjAPgren-Larsson syndrome gene is close to D17S805 as determined by linkage analysis and allelic association. (7894487)
1994
43
K-ras activation and ras p21 expression in latent prostatic carcinoma in Japanese men. (1562975)
1992
44
14C]-glucose metabolism of Oncomelania snails. (1286183)
1992
45
In vitro alternative and classical activation of complement by extracts of cotton mill dust: a possible mechanism in the pathogenesis of byssinosis. (6617618)
1983
46
Microphthalmus with ocular communicating orbital cyst--ultrasonic diagnosis. (733179)
1978
47
Granulomatous hepatitis. (775558)
1976
48
Ocular changes in orbital cellulitis. (14889582)
1951

Variations for Mandibuloacral Dysplasia

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UniProtKB/Swiss-Prot genetic disease variations for Mandibuloacral Dysplasia:

67
id Symbol AA change Variation ID SNP ID
1LMNAp.Arg527HisVAR_018727
2LMNAp.Ala529ValVAR_034709
3LMNAp.Ser573LeuVAR_039789

Clinvar genetic disease variations for Mandibuloacral Dysplasia:

5
id Gene Variation Type Significance SNP ID Assembly Location
1LMNANM_170707.3(LMNA): c.1620G> A (p.Met540Ile)single nucleotide variantLikely pathogenicrs483352811GRCh37Chr 1, 156107456: 156107456
2LMNANM_170707.3(LMNA): c.1579C> T (p.Arg527Cys)single nucleotide variantPathogenicrs57318642GRCh37Chr 1, 156106994: 156106994
3LMNANM_170707.3(LMNA): c.1580G> A (p.Arg527His)single nucleotide variantPathogenicrs57520892GRCh37Chr 1, 156106995: 156106995
4LMNANM_170707.3(LMNA): c.1824C> T (p.Gly608=)single nucleotide variantPathogenicrs58596362GRCh37Chr 1, 156108404: 156108404
5LMNANM_170707.3(LMNA): c.1411C> T (p.Arg471Cys)single nucleotide variantPathogenicrs28928902GRCh37Chr 1, 156106742: 156106742
6LMNANM_170707.3(LMNA): c.1626G> C (p.Lys542Asn)single nucleotide variantPathogenicrs56673169GRCh37Chr 1, 156107462: 156107462
7LMNANM_170707.3(LMNA): c.1586C> T (p.Ala529Val)single nucleotide variantPathogenicrs60580541GRCh37Chr 1, 156107001: 156107001
8LMNANM_170707.3(LMNA): c.1585G> A (p.Ala529Thr)single nucleotide variantPathogenicrs121912494GRCh37Chr 1, 156107000: 156107000
9LMNANM_170707.3(LMNA): c.1488+1G> Asingle nucleotide variantPathogenicrs267607640GRCh37Chr 1, 156106820: 156106820
10LMNANM_170707.3(LMNA): c.1583C> A (p.Thr528Lys)single nucleotide variantLikely pathogenic, Pathogenicrs57629361GRCh37Chr 1, 156106998: 156106998

Expression for genes affiliated with Mandibuloacral Dysplasia

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Search GEO for disease gene expression data for Mandibuloacral Dysplasia.

Pathways for genes affiliated with Mandibuloacral Dysplasia

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Pathways related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

idSuper pathwaysScoreTop Affiliating Genes
1
Show member pathways
9.7BANF1, LMNA
28.7AGPAT2, BSCL2, LMNA, ZMPSTE24

GO Terms for genes affiliated with Mandibuloacral Dysplasia

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Biological processes related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1nuclear envelope organizationGO:00069989.8LMNA, ZMPSTE24
2mitotic nuclear envelope reassemblyGO:00070849.6BANF1, LMNA

Molecular functions related to Mandibuloacral Dysplasia according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1metalloendopeptidase activityGO:00042229.1MMP9, RCE1

Sources for Mandibuloacral Dysplasia

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet