MADA
MCID: MND003
MIFTS: 45

Mandibuloacral Dysplasia with Type a Lipodystrophy (MADA)

Categories: Bone diseases, Endocrine diseases, Eye diseases, Fetal diseases, Genetic 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 53 59 75 6
Mandibuloacral Dysplasia 57 76 53 25 59 37 29 13 55 6
Mandibuloacral Dysostosis 25 29 6 73
Mada 57 53 75
Lipodystrophy, Type a, Associated with Mandibuloacral Dysplasia 57 53
Craniomandibular Dermatodysostosis 57 75
Mad 53 59
Lipodystrophy Type a Associated with Mandibuloacral Dysplasia 75
Mandibuloacral Dysplasia with Type a Lipodystrophy, Atypical 6
Mandibuloacral Dysplasia with Type a Lipodystrophy Atypical 75
Tendinous Calcinosis Arthropathy and Progeroid Features 75
Dysplasia, Mandibuloacral, with Type a Lipodystrophy 40
Dysplasia, Mandibuloacral 40

Characteristics:

Orphanet epidemiological data:

59
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
Inheritance:
autosomal recessive

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


HPO:

32
mandibuloacral dysplasia with type a lipodystrophy:
Inheritance heterogeneous autosomal recessive inheritance
Onset and clinical course juvenile onset


Classifications:



Summaries for Mandibuloacral Dysplasia with Type a 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)

MalaCards based summary : Mandibuloacral Dysplasia with Type a Lipodystrophy, also known as mandibuloacral dysplasia, is related to hutchinson-gilford progeria syndrome and acroosteolysis, 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 muscular hypotonia

Genetics Home Reference : 25 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).

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2457Disease definitionMandibuloacral 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.Visit the Orphanet disease page for more resources.

UniProtKB/Swiss-Prot : 75 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 : 76 Mandibuloacral dysplasia is a rare autosomal recessive syndrome characterized by mandibular hypoplasia,... more...

Related Diseases for Mandibuloacral Dysplasia with Type a Lipodystrophy

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal:
joint stiffness
joint contractures

Skeletal Skull:
wormian bones
delayed closure of cranial sutures

Endocrine Features:
insulin-resistant diabetes mellitus
impaired glucose tolerance

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

Head And Neck Nose:
pinched nose
pointed nose
beak nose

Skeletal Hands:
acroosteolysis of distal phalanges
fingertip rounding

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

Laboratory Abnormalities:
hyperinsulinemia
hyperlipidemia
hyperglycemia

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

Head And Neck Eyes:
prominent eyes

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

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

Growth Other:
growth retardation, postnatal

Skeletal Feet:
acroosteolysis of distal phalanges


Clinical features from OMIM:

248370

Human phenotypes related to Mandibuloacral Dysplasia with Type a Lipodystrophy:

59 32 (show top 50) (show all 73)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 high palate 59 32 hallmark (90%) Very frequent (99-80%),Occasional (29-5%) HP:0000218
2 muscular hypotonia 59 32 occasional (7.5%) Occasional (29-5%) HP:0001252
3 hearing impairment 59 32 occasional (7.5%) Occasional (29-5%) HP:0000365
4 cataract 59 32 occasional (7.5%) Occasional (29-5%) HP:0000518
5 abnormality of the dentition 59 32 occasional (7.5%) Occasional (29-5%) HP:0000164
6 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
7 flexion contracture 59 32 occasional (7.5%) Occasional (29-5%) HP:0001371
8 arthralgia 59 32 occasional (7.5%) Occasional (29-5%) HP:0002829
9 lipoatrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0100578
10 full cheeks 59 32 hallmark (90%) Very frequent (99-80%) HP:0000293
11 hypertriglyceridemia 59 32 frequent (33%) Frequent (79-30%) HP:0002155
12 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
13 acanthosis nigricans 59 32 frequent (33%) Frequent (79-30%) HP:0000956
14 thin skin 59 32 hallmark (90%) Very frequent (99-80%),Very frequent (99-80%) HP:0000963
15 lack of skin elasticity 59 32 occasional (7.5%) Occasional (29-5%) HP:0100679
16 limitation of joint mobility 59 32 hallmark (90%) Very frequent (99-80%) HP:0001376
17 wormian bones 59 32 hallmark (90%) Very frequent (99-80%) HP:0002645
18 postnatal growth retardation 59 32 frequent (33%) Frequent (79-30%) HP:0008897
19 glucose intolerance 59 32 frequent (33%) Frequent (79-30%) HP:0000833
20 hyperinsulinemia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000842
21 alopecia 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001596
22 hyperlipidemia 59 32 frequent (33%) Frequent (79-30%) HP:0003077
23 dental crowding 59 32 frequent (33%) Frequent (79-30%) HP:0000678
24 hypercholesterolemia 59 32 frequent (33%) Frequent (79-30%) HP:0003124
25 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
26 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
27 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
28 abnormality of skin pigmentation 59 32 hallmark (90%) Very frequent (99-80%) HP:0001000
29 hypoplastic fingernail 59 32 frequent (33%) Frequent (79-30%) HP:0001804
30 sparse hair 59 32 frequent (33%) Frequent (79-30%) HP:0008070
31 absent eyelashes 59 32 occasional (7.5%) Occasional (29-5%) HP:0000561
32 short clavicles 59 32 frequent (33%) Frequent (79-30%) HP:0000894
33 delayed cranial suture closure 59 32 frequent (33%) Frequent (79-30%) HP:0000270
34 breast aplasia 59 32 occasional (7.5%) Occasional (29-5%) HP:0100783
35 insulin-resistant diabetes mellitus 59 32 frequent (33%) Frequent (79-30%) HP:0000831
36 insulin resistance 59 32 frequent (33%) Very frequent (99-80%),Frequent (79-30%) HP:0000855
37 hyperpigmentation of the skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000953
38 narrow nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000460
39 aplasia/hypoplasia of the clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0006710
40 progeroid facial appearance 59 32 hallmark (90%) Very frequent (99-80%) HP:0005328
41 dermal atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0004334
42 loss of subcutaneous adipose tissue in limbs 59 32 hallmark (90%) Very frequent (99-80%) HP:0003635
43 increased adipose tissue around the neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000468
44 contractures of the large joints 59 32 hallmark (90%) Very frequent (99-80%) HP:0005781
45 hypoplasia of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000685
46 acroosteolysis of distal phalanges (feet) 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0001870
47 increased intraabdominal fat 59 32 frequent (33%) Frequent (79-30%) HP:0008993
48 increased subcutaneous truncal adipose tissue 59 32 frequent (33%) Frequent (79-30%) HP:0009003
49 osteolytic defects of the distal phalanges of the hand 59 32 frequent (33%) Frequent (79-30%),Very frequent (99-80%) HP:0009839
50 facial shape deformation 59 32 frequent (33%) Frequent (79-30%) HP:0011334

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 Dysostosis 29 LMNA

Anatomical Context for Mandibuloacral Dysplasia with Type a Lipodystrophy

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

41
Skin, Bone, Eye, Tongue

Publications for Mandibuloacral Dysplasia with Type a Lipodystrophy

Articles related to Mandibuloacral Dysplasia with Type a Lipodystrophy:

(show top 50) (show all 52)
# Title Authors Year
1
Mandibuloacral dysplasia: A premature ageing disease with aspects of physiological ageing. ( 29208544 )
2018
2
A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type A. ( 26602028 )
2016
3
Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development. ( 27100822 )
2016
4
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B. ( 27410998 )
2016
5
Mandibuloacral Dysplasia Type B in an Infant: A Rare Progeroid Genodermatosis. ( 25629449 )
2015
6
Rapamycin treatment of Mandibuloacral Dysplasia cells rescues localization of chromatin-associated proteins and cell cycle dynamics. ( 25324471 )
2014
7
Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China. ( 25286833 )
2014
8
Hutchinson-gilford progeria versus mandibuloacral dysplasia. ( 24700965 )
2014
9
Mandibuloacral Dysplasia Caused by LMNA Mutations and Uniparental Disomy. ( 24639906 )
2014
10
Mandibuloacral dysplasia. ( 24793088 )
2014
11
Precautions in using a perforator free flap to treat mandibuloacral dysplasia-a case report. ( 24123119 )
2013
12
Ultrastructural skin changes in Egyptian mandibuloacral dysplasia patients with p.Arg527Leu LMNA mutation and in their asymptomatic heterozygotic mothers. ( 23775434 )
2013
13
Familial partial lipodystrophy, mandibuloacral dysplasia and restrictive dermopathy feature barrier-to-autointegration factor (BAF) nuclear redistribution. ( 22935701 )
2012
14
A novel homozygous p.Arg527Leu LMNA mutation in two unrelated Egyptian families causes overlapping mandibuloacral dysplasia and progeria syndrome. ( 22549407 )
2012
15
Altered chromatin organization and SUN2 localization in mandibuloacral dysplasia are rescued by drug treatment. ( 22706480 )
2012
16
Osteoblasts from a mandibuloacral dysplasia patient induce human blood precursors to differentiate into active osteoclasts. ( 21419220 )
2011
17
Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation. ( 21267004 )
2011
18
Elbow deformities in a patient with mandibuloacral dysplasia type A. ( 20949529 )
2010
19
Skeletal phenotype of mandibuloacral dysplasia associated with mutations in ZMPSTE24. ( 20550970 )
2010
20
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. ( 20814950 )
2010
21
Mandibuloacral dysplasia type A in childhood. ( 19764019 )
2009
22
Increased release and activity of matrix metalloproteinase-9 in patients with mandibuloacral dysplasia type A, a rare premature ageing syndrome. ( 18554282 )
2008
23
Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. ( 18348272 )
2008
24
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. ( 18435794 )
2008
25
Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. ( 18796515 )
2008
26
Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. ( 17935239 )
2007
27
Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. ( 17848409 )
2007
28
Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. ( 17152860 )
2006
29
Alterations of nuclear envelope and chromatin organization in mandibuloacral dysplasia, a rare form of laminopathy. ( 16046620 )
2005
30
Mandibuloacral dysplasia: a report of two Egyptian cases. ( 16440877 )
2005
31
A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. ( 15998779 )
2005
32
Gene expression profiling of fibroblasts from a human progeroid disease (mandibuloacral dysplasia, MAD #248370) through cDNA microarrays. ( 15473259 )
2004
33
A case of mandibuloacral dysplasia presenting with features of scleroderma. ( 15311567 )
2004
34
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. ( 12788894 )
2003
35
Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. ( 14627682 )
2003
36
Mandibuloacral dysplasia with absent breast development. ( 12784312 )
2003
37
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. ( 12913070 )
2003
38
Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. ( 12075506 )
2002
39
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. ( 11836320 )
2002
40
Premature adrenal cortical dysfunction in mandibuloacral dysplasia: a progeroid-like syndrome. ( 11102943 )
2000
41
Familial mandibuloacral dysplasia: report of an additional Italian patient. ( 10995511 )
2000
42
Familial mandibuloacral dysplasia--a report of four cases. ( 9732012 )
1998
43
Lethal neonatal mandibuloacral dysplasia. ( 8957511 )
1996
44
Long-term follow-up of cutaneous changes in siblings with mandibuloacral dysplasia who were originally considered to have hereditary sclerosing poikiloderma. ( 7593806 )
1995
45
A severe case of mandibuloacral dysplasia in a girl. ( 1642279 )
1992
46
Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. ( 1736653 )
1992
47
Mandibuloacral dysplasia as a form of idiopathic osteolysis. ( 1815190 )
1991
48
Insulin-resistant diabetes mellitus and hypermetabolism in mandibuloacral dysplasia: a newly recognized form of partial lipodystrophy. ( 1939519 )
1991
49
Another Italian family with mandibuloacral dysplasia: why does it seem more frequent in Italy? ( 3717214 )
1986
50
Mandibuloacral dysplasia: a rare progeroid syndrome. Two brothers confirm autosomal recessive inheritance. ( 6467666 )
1984

Variations for Mandibuloacral Dysplasia with Type a Lipodystrophy

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

75
# 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

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

6 (show top 50) (show all 148)
# Gene Variation Type Significance SNP ID Assembly Location
1 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh37 Chromosome 1, 156106994: 156106994
2 LMNA NM_170707.3(LMNA): c.1579C> T (p.Arg527Cys) single nucleotide variant Pathogenic rs57318642 GRCh38 Chromosome 1, 156137203: 156137203
3 LMNA NM_170707.3(LMNA): c.1580G> A (p.Arg527His) single nucleotide variant Pathogenic rs57520892 GRCh37 Chromosome 1, 156106995: 156106995
4 LMNA NM_170707.3(LMNA): c.1580G> A (p.Arg527His) single nucleotide variant Pathogenic rs57520892 GRCh38 Chromosome 1, 156137204: 156137204
5 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh37 Chromosome 1, 156108404: 156108404
6 LMNA NM_170707.3(LMNA): c.1824C> T (p.Gly608=) single nucleotide variant Pathogenic rs58596362 GRCh38 Chromosome 1, 156138613: 156138613
7 LMNA NM_170707.3(LMNA): c.1411C> T (p.Arg471Cys) single nucleotide variant Uncertain significance rs28928902 GRCh37 Chromosome 1, 156106742: 156106742
8 LMNA NM_170707.3(LMNA): c.1411C> T (p.Arg471Cys) single nucleotide variant Uncertain significance rs28928902 GRCh38 Chromosome 1, 156136951: 156136951
9 LMNA NM_170707.3(LMNA): c.1626G> C (p.Lys542Asn) single nucleotide variant Pathogenic rs56673169 GRCh37 Chromosome 1, 156107462: 156107462
10 LMNA NM_170707.3(LMNA): c.1626G> C (p.Lys542Asn) single nucleotide variant Pathogenic rs56673169 GRCh38 Chromosome 1, 156137671: 156137671
11 LMNA NM_170707.3(LMNA): c.1586C> T (p.Ala529Val) single nucleotide variant Pathogenic rs60580541 GRCh37 Chromosome 1, 156107001: 156107001
12 LMNA NM_170707.3(LMNA): c.1586C> T (p.Ala529Val) single nucleotide variant Pathogenic rs60580541 GRCh38 Chromosome 1, 156137210: 156137210
13 LMNA NM_170707.3(LMNA): c.1718C> T (p.Ser573Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs60890628 GRCh37 Chromosome 1, 156108298: 156108298
14 LMNA NM_170707.3(LMNA): c.1718C> T (p.Ser573Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs60890628 GRCh38 Chromosome 1, 156138507: 156138507
15 LMNA NM_170707.3(LMNA): c.1318G> A (p.Val440Met) single nucleotide variant Uncertain significance rs121912493 GRCh37 Chromosome 1, 156106165: 156106165
16 LMNA NM_170707.3(LMNA): c.1318G> A (p.Val440Met) single nucleotide variant Uncertain significance rs121912493 GRCh38 Chromosome 1, 156136374: 156136374
17 LMNA NM_170707.3(LMNA): c.1585G> A (p.Ala529Thr) single nucleotide variant Pathogenic rs121912494 GRCh37 Chromosome 1, 156107000: 156107000
18 LMNA NM_170707.3(LMNA): c.1585G> A (p.Ala529Thr) single nucleotide variant Pathogenic rs121912494 GRCh38 Chromosome 1, 156137209: 156137209
19 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh37 Chromosome 1, 156105827: 156105827
20 LMNA NM_170707.3(LMNA): c.1072G> A (p.Glu358Lys) single nucleotide variant Pathogenic rs60458016 GRCh38 Chromosome 1, 156136036: 156136036
21 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh37 Chromosome 1, 156105758: 156105758
22 LMNA NM_005572.3(LMNA): c.1003C> T (p.Arg335Trp) single nucleotide variant Pathogenic/Likely pathogenic rs386134243 GRCh38 Chromosome 1, 156135967: 156135967
23 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh37 Chromosome 1, 156084760: 156084760
24 LMNA NM_005572.3(LMNA): c.51C> T (p.Ser17=) single nucleotide variant Benign/Likely benign rs11549668 GRCh38 Chromosome 1, 156114969: 156114969
25 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh37 Chromosome 1, 156104779: 156104779
26 LMNA NM_170707.3(LMNA): c.810+13G> T single nucleotide variant Benign rs11264444 GRCh38 Chromosome 1, 156134988: 156134988
27 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh37 Chromosome 1, 156106185: 156106185
28 LMNA NM_005572.3(LMNA): c.1338T> C (p.Asp446=) single nucleotide variant Benign rs505058 GRCh38 Chromosome 1, 156136394: 156136394
29 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh37 Chromosome 1, 156106981: 156106981
30 LMNA NM_170707.3(LMNA): c.1566C> T (p.Cys522=) single nucleotide variant Conflicting interpretations of pathogenicity rs149339264 GRCh38 Chromosome 1, 156137190: 156137190
31 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh37 Chromosome 1, 156106999: 156106999
32 LMNA NM_005572.3(LMNA): c.1584G> A (p.Thr528=) single nucleotide variant Benign/Likely benign rs80356812 GRCh38 Chromosome 1, 156137208: 156137208
33 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh37 Chromosome 1, 156107534: 156107534
34 LMNA NM_005572.3(LMNA): c.1698C> T (p.His566=) single nucleotide variant Benign rs4641 GRCh38 Chromosome 1, 156137743: 156137743
35 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh37 Chromosome 1, 156104292: 156104292
36 LMNA NM_170707.3(LMNA): c.612G> A (p.Leu204=) single nucleotide variant Benign/Likely benign rs12117552 GRCh38 Chromosome 1, 156134501: 156134501
37 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh37 Chromosome 1, 156104965: 156104965
38 LMNA NM_170707.3(LMNA): c.811-13T> A single nucleotide variant Benign/Likely benign rs80356809 GRCh38 Chromosome 1, 156135174: 156135174
39 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh37 Chromosome 1, 156105028: 156105028
40 LMNA NM_005572.3(LMNA): c.861T> C (p.Ala287=) single nucleotide variant Benign rs538089 GRCh38 Chromosome 1, 156135237: 156135237
41 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh37 Chromosome 1, 156105904: 156105904
42 LMNA NM_170707.3(LMNA): c.1149G> A (p.Glu383=) single nucleotide variant Conflicting interpretations of pathogenicity rs267607603 GRCh38 Chromosome 1, 156136113: 156136113
43 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh37 Chromosome 1, 156106820: 156106820
44 LMNA NM_170707.3(LMNA): c.1488+1G> A single nucleotide variant Pathogenic rs267607640 GRCh38 Chromosome 1, 156137029: 156137029
45 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh37 Chromosome 1, 156106998: 156106998
46 LMNA NM_170707.3(LMNA): c.1583C> A (p.Thr528Lys) single nucleotide variant Pathogenic/Likely pathogenic rs57629361 GRCh38 Chromosome 1, 156137207: 156137207
47 ZMPSTE24 NM_005857.4(ZMPSTE24): c.651T> C (p.Asp217=) single nucleotide variant Benign rs2076697 GRCh37 Chromosome 1, 40737589: 40737589
48 ZMPSTE24 NM_005857.4(ZMPSTE24): c.651T> C (p.Asp217=) single nucleotide variant Benign rs2076697 GRCh38 Chromosome 1, 40271917: 40271917
49 LMNA NM_170707.3(LMNA): c.1620G> A (p.Met540Ile) single nucleotide variant Pathogenic rs483352811 GRCh37 Chromosome 1, 156107456: 156107456
50 LMNA NM_170707.3(LMNA): c.1620G> A (p.Met540Ile) single nucleotide variant Pathogenic rs483352811 GRCh38 Chromosome 1, 156137665: 156137665

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 LMNA ZMPSTE24

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 LMNA ZMPSTE24

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 LMNA ZMPSTE24
2 nucleus organization GO:0006997 8.96 LMNA ZMPSTE24
3 nuclear envelope organization GO:0006998 8.62 LMNA ZMPSTE24

Sources for Mandibuloacral Dysplasia with Type a Lipodystrophy

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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