MADA
MCID: MND003
MIFTS: 48

Mandibuloacral Dysplasia with Type a Lipodystrophy (MADA)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic diseases, Metabolic diseases, Oral diseases, Rare diseases, Skin diseases

Aliases & Classifications for Mandibuloacral Dysplasia with Type a Lipodystrophy

MalaCards integrated aliases for Mandibuloacral Dysplasia with Type a Lipodystrophy:

Name: Mandibuloacral Dysplasia with Type a Lipodystrophy 57 20 58 72 29 6
Mandibuloacral Dysplasia 57 73 20 43 58 36 29 13 54 6
Mada 57 20 72
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 57 20
Craniomandibular Dermatodysostosis 57 72
Mandibuloacral Dysostosis 43 70
Mad 20 58
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia 72
Mandibuloacral Dysplasia with Type a Lipodystrophy, Atypical 6
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical 72
Tendinous Calcinosis Arthropathy and Progeroid Features 72
Dysplasia, Mandibuloacral, with Type a Lipodystrophy 39
Dysplasia, Mandibuloacral 39

Characteristics:

Orphanet epidemiological data:

58
mandibuloacral dysplasia with type a lipodystrophy
Inheritance: Autosomal recessive;
mandibuloacral dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in childhood
genetic heterogeneity (see madb, )
allelic disorder to dunnigan-type familial partial lipodystrophy


HPO:

31
mandibuloacral dysplasia with type a lipodystrophy:
Inheritance autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:

Orphanet: 58  
Rare eye diseases
Rare bone diseases
Rare skin diseases
Rare endocrine diseases
Developmental anomalies during embryogenesis


Summaries for Mandibuloacral Dysplasia with Type a Lipodystrophy

MedlinePlus Genetics : 43 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).People with mandibuloacral dysplasia can have mottled or patchy skin pigmentation or other skin abnormalities. Some people with this condition have features of premature aging (a condition called progeria), such as thin skin, loss of teeth, loss of hair, and a beaked nose. Some individuals with mandibuloacral dysplasia have metabolic problems, such as diabetes.A common feature of mandibuloacral dysplasia is a lack of fatty tissue under the skin (lipodystrophy) in certain regions of the body. The two types of this disorder, mandibuloacral dysplasia with type A lipodystrophy (MADA) and mandibuloacral dysplasia with type B lipodystrophy (MADB) are distinguished by the pattern of fat distribution throughout the body. Type A is described as partial lipodystrophy; affected individuals have a loss of fatty tissue from the torso and limbs, but it may build up around the neck and shoulders. Type B is a generalized lipodystrophy, with loss of fatty tissue in the face, torso, and limbs.MADA usually begins in adulthood, although children can be affected. MADB begins earlier, often just after birth. Many babies with MADB are born prematurely.

MalaCards based summary : Mandibuloacral Dysplasia with Type a Lipodystrophy, also known as mandibuloacral dysplasia, is related to hutchinson-gilford progeria syndrome and mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, and has symptoms including joint stiffness An important gene associated with Mandibuloacral Dysplasia with Type a Lipodystrophy is LMNA (Lamin A/C), and among its related pathways/superpathways is Adipogenesis. Affiliated tissues include skin, bone and eye, and related phenotypes are high palate and short stature

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2457 Definition Mandibuloacral dysplasia (MAD) is a rare genetic bone disorder characterized by growth delay, postnatal development of craniofacial anomalies including mandibular hypoplasia, progressive acral osteolysis, mottled or patchy pigmentation, skin atrophy, and partial or generalized lipodystrophy.

OMIM® : 57 Mandibuloacral dysplasia with type A lipodystrophy (MADA) is an autosomal recessive disorder characterized by growth retardation, craniofacial anomalies with mandibular hypoplasia, skeletal abnormalities with progressive osteolysis of the distal phalanges and clavicles, and pigmentary skin changes. The lipodystrophy is characterized by a marked acral loss of fatty tissue with normal or increased fatty tissue in the neck and trunk. Some patients may show progeroid features. Metabolic complications can arise due to insulin resistance and diabetes (Young et al., 1971; Simha and Garg, 2002; summary by Garavelli et al., 2009). See also MAD type B (MADB; 608612), which is caused by mutation in the ZMPSTE24 gene (606480). (248370) (Updated 05-Apr-2021)

KEGG : 36 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.

UniProtKB/Swiss-Prot : 72 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.

Wikipedia : 73 Mandibuloacral dysplasia (MAD) is a rare autosomal recessive syndrome characterized by mandibular... more...

Related Diseases for Mandibuloacral Dysplasia with Type a Lipodystrophy

Diseases in the Mandibuloacral Dysplasia with Type a Lipodystrophy family:

Mandibuloacral Dysplasia with Type B Lipodystrophy

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

(show top 50) (show all 68)
# Related Disease Score Top Affiliating Genes
1 hutchinson-gilford progeria syndrome 30.8 ZMPSTE24 LMNA
2 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 30.7 ZMPSTE24 LMNA
3 acroosteolysis 30.7 ZMPSTE24 LMNA
4 laminopathy 30.1 ZMPSTE24 LMNA
5 restrictive dermopathy, lethal 30.0 ZMPSTE24 LMNA
6 skin atrophy 29.8 ZMPSTE24 LMNA
7 emery-dreifuss muscular dystrophy 29.6 ZMPSTE24 LMNA
8 calcinosis 29.4 ZMPSTE24 LMNA
9 congenital generalized lipodystrophy 29.4 ZMPSTE24 LMNA
10 mandibuloacral dysplasia progeroid syndrome 11.5
11 cleidocranial dysplasia 11.1
12 mandibuloacral dysplasia with type b lipodystrophy 11.0
13 myopathy due to myoadenylate deaminase deficiency 11.0
14 autosomal recessive disease 10.5
15 charcot-marie-tooth disease, axonal, type 2e 10.3
16 alopecia 10.3
17 premature aging 10.3
18 dowling-degos disease 1 10.2
19 familial partial lipodystrophy 10.2
20 bone resorption disease 10.2
21 werner syndrome 10.1
22 microcephaly 10.1
23 hyperinsulinism 10.1
24 systemic scleroderma 10.1
25 exophthalmos 10.1
26 acanthosis nigricans 10.0
27 type 2 diabetes mellitus 10.0
28 nondisjunction 10.0
29 poikiloderma, hereditary sclerosing 10.0
30 batten-turner congenital myopathy 10.0
31 rothmund-thomson syndrome, type 2 10.0
32 myopathy, proximal, with ophthalmoplegia 10.0
33 ptosis 10.0
34 hypospadias 10.0
35 dilated cardiomyopathy 10.0
36 focal segmental glomerulosclerosis 10.0
37 myopathy 10.0
38 paraplegia 10.0
39 end stage renal disease 10.0
40 muscular dystrophy 10.0
41 chromosomal triplication 10.0
42 erythrokeratoderma ''en cocardes'' 10.0
43 growth hormone deficiency 10.0
44 rigid spine muscular dystrophy 10.0
45 raynaud phenomenon 10.0
46 hypotonia 10.0
47 uniparental disomy of chromosome 1 10.0
48 retinoblastoma 9.9
49 adrenomyodystrophy 9.9
50 giardiasis 9.9

Graphical network of the top 20 diseases related to Mandibuloacral Dysplasia with Type a Lipodystrophy:



Diseases related to Mandibuloacral Dysplasia with Type a Lipodystrophy

Symptoms & Phenotypes for Mandibuloacral Dysplasia with Type a Lipodystrophy

Human phenotypes related to Mandibuloacral Dysplasia with Type a Lipodystrophy:

58 31 (show top 50) (show all 74)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 58 31 hallmark (90%) Occasional (29-5%),Very frequent (99-80%) HP:0000218
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 lipoatrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0100578
4 full cheeks 58 31 hallmark (90%) Very frequent (99-80%) HP:0000293
5 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
6 hyperinsulinemia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000842
7 alopecia 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001596
8 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
9 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
10 wormian bones 58 31 hallmark (90%) Very frequent (99-80%) HP:0002645
11 limitation of joint mobility 58 31 hallmark (90%) Very frequent (99-80%) HP:0001376
12 abnormality of skin pigmentation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001000
13 thin skin 58 31 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000963
14 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
15 loss of subcutaneous adipose tissue in limbs 58 31 hallmark (90%) Very frequent (99-80%) HP:0003635
16 progeroid facial appearance 58 31 hallmark (90%) Very frequent (99-80%) HP:0005328
17 osteolytic defects of the distal phalanges of the hand 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0009839
18 acroosteolysis of distal phalanges (feet) 58 31 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0001870
19 aplasia/hypoplasia of the clavicles 58 31 hallmark (90%) Very frequent (99-80%) HP:0006710
20 contractures of the large joints 58 31 hallmark (90%) Very frequent (99-80%) HP:0005781
21 increased adipose tissue around the neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000468
22 narrow nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000460
23 hypertriglyceridemia 58 31 frequent (33%) Frequent (79-30%) HP:0002155
24 postnatal growth retardation 58 31 frequent (33%) Frequent (79-30%) HP:0008897
25 hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0003077
26 dental crowding 58 31 frequent (33%) Frequent (79-30%) HP:0000678
27 hypercholesterolemia 58 31 frequent (33%) Frequent (79-30%) HP:0003124
28 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
29 acanthosis nigricans 58 31 frequent (33%) Frequent (79-30%) HP:0000956
30 hypoplastic fingernail 58 31 frequent (33%) Frequent (79-30%) HP:0001804
31 delayed cranial suture closure 58 31 frequent (33%) Frequent (79-30%) HP:0000270
32 sparse hair 58 31 frequent (33%) Frequent (79-30%) HP:0008070
33 short clavicles 58 31 frequent (33%) Frequent (79-30%) HP:0000894
34 insulin resistance 58 31 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0000855
35 hypoplasia of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000685
36 facial shape deformation 58 31 frequent (33%) Frequent (79-30%) HP:0011334
37 increased intraabdominal fat 58 31 frequent (33%) Frequent (79-30%) HP:0008993
38 insulin-resistant diabetes mellitus 58 31 frequent (33%) Frequent (79-30%) HP:0000831
39 abnormally large globe 58 31 frequent (33%) Frequent (79-30%) HP:0001090
40 increased subcutaneous truncal adipose tissue 58 31 frequent (33%) Frequent (79-30%) HP:0009003
41 increased circulating free fatty acid level 58 31 frequent (33%) Frequent (79-30%) HP:0030781
42 abnormal tongue morphology 58 31 frequent (33%) Frequent (79-30%) HP:0030809
43 abnormal eyebrow morphology 31 frequent (33%) HP:0000534
44 reduced intrathoracic adipose tissue 31 frequent (33%) HP:0003809
45 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
46 cataract 58 31 occasional (7.5%) Occasional (29-5%) HP:0000518
47 abnormality of the dentition 58 31 occasional (7.5%) Occasional (29-5%) HP:0000164
48 flexion contracture 58 31 occasional (7.5%) Occasional (29-5%) HP:0001371
49 arthralgia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002829
50 absent eyelashes 58 31 occasional (7.5%) Occasional (29-5%) HP:0000561

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Skeletal:
joint stiffness
joint contractures

Laboratory Abnormalities:
hyperinsulinemia
hyperlipidemia
hyperglycemia

Skin Nails Hair Skin:
mottled pigmentation
skin atrophy (especially over hands and feet)
soft tissue calcinosis

Head And Neck Mouth:
high-arched palate
absence of tongue papillae

Muscle Soft Tissue:
normal or increased facial adipose tissue
normal or increased adipose tissue around the neck
partial lipodystrophy (abnormal distribution of adipose tissue)
loss of subcutaneous adipose tissue from extremities
normal or increased truncal adipose tissue
more
Chest Ribs Sternum Clavicles And Scapulae:
clavicular hypoplasia
progressive acroosteolysis of the clavicle

Skeletal Feet:
acroosteolysis of distal phalanges

Head And Neck Nose:
pinched nose
pointed nose
beak nose

Skin Nails Hair Hair:
alopecia, partial
sparse, lusterless scalp hair

Head And Neck Face:
full cheeks
bird-like facies
mandibular hypoplasia
normal or increased facial adipose tissue

Skeletal Skull:
wormian bones
delayed closure of cranial sutures

Endocrine Features:
insulin-resistant diabetes mellitus
impaired glucose tolerance

Head And Neck Eyes:
prominent eyes

Head And Neck Neck:
normal or increased adipose tissue around the neck

Skeletal Hands:
acroosteolysis of distal phalanges
fingertip rounding

Head And Neck Teeth:
hypoplastic teeth
dental overcrowding
loss of teeth

Growth Other:
growth retardation, postnatal

Clinical features from OMIM®:

248370 (Updated 05-Apr-2021)

UMLS symptoms related to Mandibuloacral Dysplasia with Type a Lipodystrophy:


joint stiffness

Drugs & Therapeutics for Mandibuloacral Dysplasia with Type a Lipodystrophy

Search Clinical Trials , NIH Clinical Center for Mandibuloacral Dysplasia with Type a Lipodystrophy

Genetic Tests for Mandibuloacral Dysplasia with Type a Lipodystrophy

Genetic tests related to Mandibuloacral Dysplasia with Type a Lipodystrophy:

# Genetic test Affiliating Genes
1 Mandibuloacral Dysplasia 29
2 Mandibuloacral Dysplasia with Type a Lipodystrophy 29 LMNA

Anatomical Context for Mandibuloacral Dysplasia with Type a Lipodystrophy

MalaCards organs/tissues related to Mandibuloacral Dysplasia with Type a Lipodystrophy:

40
Skin, Bone, Eye, Tongue, Breast, Adipocyte, Liver

Publications for Mandibuloacral Dysplasia with Type a Lipodystrophy

Articles related to Mandibuloacral Dysplasia with Type a Lipodystrophy:

(show top 50) (show all 122)
# Title Authors PMID Year
1
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. 61 54 6 57
18348272 2008
2
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. 61 6 57 54
17848409 2007
3
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. 54 57 6 61
17935239 2007
4
A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. 57 6 61 54
16278265 2006
5
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. 6 61 57 54
14627682 2003
6
Mandibuloacral dysplasia type A in childhood. 61 57 6
19764019 2009
7
Mandibuloacral dysplasia with absent breast development. 6 57 61
12784312 2003
8
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. 61 57 6
12788894 2003
9
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. 61 57 6
12075506 2002
10
Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. 57 6
15286156 2004
11
LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). 57 6
12768443 2003
12
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. 61 54 57
18554282 2008
13
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. 6 54 61
18435794 2008
14
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 54 61 6
12913070 2003
15
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A. 61 6
26602028 2016
16
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. 61 6
20814950 2010
17
Elbow deformities in a patient with mandibuloacral dysplasia type A. 57 61
20949529 2010
18
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. 6 61
15998779 2005
19
Mandibuloacral dysplasia: a report of two Egyptian cases. 61 57
16440877 2005
20
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. 61 57
11836320 2002
21
Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. 61 57
11102943 2000
22
Familial mandibuloacral dysplasia: report of an additional Italian patient. 57 61
10995511 2000
23
Lethal neonatal mandibuloacral dysplasia. 61 57
8957511 1996
24
Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. 57 61
1736653 1992
25
Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. 61 57
1939519 1991
26
Mandibuloacral "dysplasia". 57 61
1951456 1991
27
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy? 61 57
3717214 1986
28
Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance. 61 57
6467666 1984
29
Familial mandibuloacral dysplasia. 61 57
7317281 1981
30
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. 6
22495976 2012
31
Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. 6
20635340 2010
32
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. 6
20034068 2010
33
Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). 6
17250669 2007
34
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. 6
16297189 2005
35
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 6
15317753 2004
36
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. 6
12628721 2003
37
Mandibulo-acral dysplasia: heterogeneity versus variability. 57
7735501 1995
38
Restrictive dermopathy. 6
8152880 1993
39
Familial progeria or mandibulo-acral dysplasia? 57
1951457 1991
40
Review of Dr. Parkash's report. 57
1951455 1991
41
Hutchinson-Gilford progeria: familial occurrence. 57
2389799 1990
42
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. 6
3840649 1985
43
MEDICAL GENETICS 1963. 57
14255733 1964
44
MEDICAL GENETICS 1962. 57
14042963 1963
45
Atypical progeroid syndrome due to heterozygous missense LMNA mutations. 61 54
19875478 2009
46
Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. 54 61
19283854 2009
47
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. 61 54
18796515 2008
48
The R527H mutation in LMNA gene causes an increased sensitivity to ionizing radiation. 61 54
18604166 2008
49
Primary laminopathy fibroblasts display altered genome organization and apoptosis. 61 54
17274801 2007
50
Collagen expression in fibroblasts with a novel LMNA mutation. 54 61
17150192 2007

Variations for Mandibuloacral Dysplasia with Type a Lipodystrophy

ClinVar genetic disease variations for Mandibuloacral Dysplasia with Type a Lipodystrophy:

6 (show top 50) (show all 127)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1018T>C (p.Trp340Arg) SNV Pathogenic 4272 rs121908093 GRCh37: 1:40751660-40751660
GRCh38: 1:40285988-40285988
2 ZMPSTE24 NM_005857.5(ZMPSTE24):c.121C>T (p.Gln41Ter) SNV Pathogenic 4274 rs121908094 GRCh37: 1:40724064-40724064
GRCh38: 1:40258392-40258392
3 ZMPSTE24 NM_005857.5(ZMPSTE24):c.743C>T (p.Pro248Leu) SNV Pathogenic 4275 rs121908095 GRCh37: 1:40737681-40737681
GRCh38: 1:40272009-40272009
4 LMNA NM_170707.4(LMNA):c.1626G>C (p.Lys542Asn) SNV Pathogenic 14509 rs56673169 GRCh37: 1:156107462-156107462
GRCh38: 1:156137671-156137671
5 LMNA NM_170707.4(LMNA):c.1586C>T (p.Ala529Val) SNV Pathogenic 14513 rs60580541 GRCh37: 1:156107001-156107001
GRCh38: 1:156137210-156137210
6 LMNA NM_170707.4(LMNA):c.1585G>A (p.Ala529Thr) SNV Pathogenic 14522 rs121912494 GRCh37: 1:156107000-156107000
GRCh38: 1:156137209-156137209
7 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter) SNV Pathogenic 30586 rs281875376 GRCh37: 1:40758262-40758262
GRCh38: 1:40292590-40292590
8 LMNA NM_170707.4(LMNA):c.1445G>A (p.Arg482Gln) SNV Pathogenic 14486 rs11575937 GRCh37: 1:156106776-156106776
GRCh38: 1:156136985-156136985
9 LMNA NM_170707.4(LMNA):c.1318G>A (p.Val440Met) SNV Pathogenic 14520 rs121912493 GRCh37: 1:156106165-156106165
GRCh38: 1:156136374-156136374
10 LMNA NM_170707.4(LMNA):c.1003C>T (p.Arg335Trp) SNV Pathogenic 36473 rs386134243 GRCh37: 1:156105758-156105758
GRCh38: 1:156135967-156135967
11 LMNA NM_170707.4(LMNA):c.1579C>T (p.Arg527Cys) SNV Pathogenic 14487 rs57318642 GRCh37: 1:156106994-156106994
GRCh38: 1:156137203-156137203
12 LMNA NM_170707.4(LMNA):c.1580G>A (p.Arg527His) SNV Pathogenic 14499 rs57520892 GRCh37: 1:156106995-156106995
GRCh38: 1:156137204-156137204
13 LMNA NM_170707.4(LMNA):c.1580G>A (p.Arg527His) SNV Pathogenic 14499 rs57520892 GRCh37: 1:156106995-156106995
GRCh38: 1:156137204-156137204
14 LMNA NM_170707.4(LMNA):c.1411C>T (p.Arg471Cys) SNV Pathogenic 14503 rs28928902 GRCh37: 1:156106742-156106742
GRCh38: 1:156136951-156136951
15 LMNA NM_170707.4(LMNA):c.1718C>T (p.Ser573Leu) SNV Pathogenic 14517 rs60890628 GRCh37: 1:156108298-156108298
GRCh38: 1:156138507-156138507
16 LMNA NM_170707.4(LMNA):c.1620G>A (p.Met540Ile) SNV Pathogenic 100690 rs483352811 GRCh37: 1:156107456-156107456
GRCh38: 1:156137665-156137665
17 ZMPSTE24 NM_005857.4(ZMPSTE24):c.1085dupT (p.Leu362Phefs) Duplication Pathogenic 4271 rs137854889 GRCh37: 1:40756542-40756543
GRCh38: 1:40290870-40290871
18 ZMPSTE24 NM_005857.5(ZMPSTE24):c.475-2A>G SNV Pathogenic 140528 rs312262685 GRCh37: 1:40735645-40735645
GRCh38: 1:40269973-40269973
19 ZMPSTE24 NM_005857.5(ZMPSTE24):c.807dup (p.Gly270fs) Duplication Pathogenic 1032364 GRCh37: 1:40747051-40747052
GRCh38: 1:40281379-40281380
20 LMNA NM_170707.4(LMNA):c.1243G>A (p.Val415Ile) SNV Uncertain significance 66797 rs267607606 GRCh37: 1:156106090-156106090
GRCh38: 1:156136299-156136299
21 LMNA NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) SNV Uncertain significance 48063 rs397517901 GRCh37: 1:156085059-156085059
GRCh38: 1:156115268-156115268
22 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
23 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1259C>G (p.Ala420Gly) SNV Uncertain significance 876056 GRCh37: 1:40758172-40758172
GRCh38: 1:40292500-40292500
24 LMNA NM_170707.4(LMNA):c.1487C>T (p.Thr496Met) SNV Uncertain significance 245964 rs200466188 GRCh37: 1:156106818-156106818
GRCh38: 1:156137027-156137027
25 LMNA NM_170707.4(LMNA):c.1634G>A (p.Arg545His) SNV Uncertain significance 163878 rs142191737 GRCh37: 1:156107470-156107470
GRCh38: 1:156137679-156137679
26 LMNA NM_170707.4(LMNA):c.1580G>A (p.Arg527His) SNV Uncertain significance 14499 rs57520892 GRCh37: 1:156106995-156106995
GRCh38: 1:156137204-156137204
27 LMNA NM_170707.4(LMNA):c.1381-5G>A SNV Uncertain significance 180405 rs730880133 GRCh37: 1:156106707-156106707
GRCh38: 1:156136916-156136916
28 LMNA NM_170707.4(LMNA):c.398G>A (p.Arg133Gln) SNV Uncertain significance 200934 rs60864230 GRCh37: 1:156100449-156100449
GRCh38: 1:156130658-156130658
29 LMNA NM_170707.4(LMNA):c.937-8C>A SNV Uncertain significance 222694 rs751707982 GRCh37: 1:156105684-156105684
GRCh38: 1:156135893-156135893
30 LMNA NM_170707.4(LMNA):c.1488+14C>T SNV Uncertain significance 178061 rs377700689 GRCh37: 1:156106833-156106833
GRCh38: 1:156137042-156137042
31 LMNA NM_170707.4(LMNA):c.471G>A (p.Thr157=) SNV Uncertain significance 200936 rs150645079 GRCh37: 1:156100522-156100522
GRCh38: 1:156130731-156130731
32 LMNA NM_170707.4(LMNA):c.749C>T (p.Ala250Val) SNV Uncertain significance 48078 rs397517907 GRCh37: 1:156104705-156104705
GRCh38: 1:156134914-156134914
33 LMNA NM_170707.4(LMNA):c.1517A>C (p.His506Pro) SNV Uncertain significance 242003 rs878855233 GRCh37: 1:156106932-156106932
GRCh38: 1:156137141-156137141
34 LMNA NM_170707.4(LMNA):c.1756G>A (p.Val586Met) SNV Uncertain significance 487635 rs758048062 GRCh37: 1:156108336-156108336
GRCh38: 1:156138545-156138545
35 LMNA NM_170707.4(LMNA):c.294G>A (p.Glu98=) SNV Uncertain significance 292834 rs886045363 GRCh37: 1:156085003-156085003
GRCh38: 1:156115212-156115212
36 LMNA NM_170707.4(LMNA):c.295C>A (p.Arg99Ser) SNV Uncertain significance 292835 rs886045364 GRCh37: 1:156085004-156085004
GRCh38: 1:156115213-156115213
37 LMNA NM_170707.4(LMNA):c.936+12C>T SNV Uncertain significance 292837 rs199881992 GRCh37: 1:156105115-156105115
GRCh38: 1:156135324-156135324
38 LMNA NM_170707.4(LMNA):c.514-11C>T SNV Uncertain significance 292836 rs886045365 GRCh37: 1:156104183-156104183
GRCh38: 1:156134392-156134392
39 LMNA NM_170707.4(LMNA):c.356+12C>A SNV Uncertain significance 875747 GRCh37: 1:156085077-156085077
GRCh38: 1:156115286-156115286
40 LMNA NM_170707.4(LMNA):c.985C>G (p.Arg329Gly) SNV Uncertain significance 224680 rs775159300 GRCh37: 1:156105740-156105740
GRCh38: 1:156135949-156135949
41 LMNA NM_170707.4(LMNA):c.1027C>T (p.Arg343Trp) SNV Uncertain significance 656550 rs749784223 GRCh37: 1:156105782-156105782
GRCh38: 1:156135991-156135991
42 LMNA NM_170707.4(LMNA):c.1324G>A (p.Val442Met) SNV Uncertain significance 519022 rs368542816 GRCh37: 1:156106171-156106171
GRCh38: 1:156136380-156136380
43 LMNA NM_170707.4(LMNA):c.1358G>A (p.Arg453Gln) SNV Uncertain significance 570103 rs267607598 GRCh37: 1:156106205-156106205
GRCh38: 1:156136414-156136414
44 LMNA NM_170707.4(LMNA):c.953C>T (p.Ala318Val) SNV Uncertain significance 586129 rs1212920276 GRCh37: 1:156105708-156105708
GRCh38: 1:156135917-156135917
45 LMNA NM_170707.4(LMNA):c.1227A>G (p.Thr409=) SNV Uncertain significance 698186 rs762130433 GRCh37: 1:156106074-156106074
GRCh38: 1:156136283-156136283
46 LMNA NM_170707.4(LMNA):c.1338T>G (p.Asp446Glu) SNV Uncertain significance 876083 GRCh37: 1:156106185-156106185
GRCh38: 1:156136394-156136394
47 LMNA NM_005572.3(LMNA):c.-226C>T SNV Uncertain significance 292823 rs886045354 GRCh37: 1:156084484-156084484
GRCh38: 1:156114693-156114693
48 LMNA NM_170707.4(LMNA):c.-138T>C SNV Uncertain significance 292828 rs886045359 GRCh37: 1:156084572-156084572
GRCh38: 1:156114781-156114781
49 LMNA NM_170707.4(LMNA):c.1698+57G>A SNV Uncertain significance 292840 rs557334569 GRCh37: 1:156107591-156107591
GRCh38: 1:156137800-156137800
50 LMNA NM_005572.3(LMNA):c.-210T>C SNV Uncertain significance 292825 rs886045356 GRCh37: 1:156084500-156084500
GRCh38: 1:156114709-156114709

UniProtKB/Swiss-Prot genetic disease variations for Mandibuloacral Dysplasia with Type a Lipodystrophy:

72
# Symbol AA change Variation ID SNP ID
1 LMNA p.Arg527His VAR_018727 rs57520892
2 LMNA p.Ala529Val VAR_034709 rs60580541
3 LMNA p.Ser573Leu VAR_039789 rs60890628

Expression for Mandibuloacral Dysplasia with Type a Lipodystrophy

Search GEO for disease gene expression data for Mandibuloacral Dysplasia with Type a Lipodystrophy.

Pathways for Mandibuloacral Dysplasia with Type a Lipodystrophy

Pathways related to Mandibuloacral Dysplasia with Type a Lipodystrophy according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.74 ZMPSTE24 LMNA

GO Terms for Mandibuloacral Dysplasia with Type a Lipodystrophy

Cellular components related to Mandibuloacral Dysplasia with Type a Lipodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nuclear envelope GO:0005635 8.62 ZMPSTE24 LMNA

Biological processes related to Mandibuloacral Dysplasia with Type a Lipodystrophy according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 positive regulation of gene expression GO:0010628 9.16 ZMPSTE24 LMNA
2 nucleus organization GO:0006997 8.96 ZMPSTE24 LMNA
3 nuclear envelope organization GO:0006998 8.62 ZMPSTE24 LMNA

Sources for Mandibuloacral Dysplasia with Type a Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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