MADB
MCID: MND002
MIFTS: 37

Mandibuloacral Dysplasia with Type B Lipodystrophy (MADB)

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 B Lipodystrophy

MalaCards integrated aliases for Mandibuloacral Dysplasia with Type B Lipodystrophy:

Name: Mandibuloacral Dysplasia with Type B Lipodystrophy 57 20 58 72 29 13 6 70
Madb 57 20 72
Lipodystrophy, Type B, Associated with Mandibuloacral Dysplasia 57 20
Lipodystrophy Type B Associated with Mandibuloacral Dysplasia 72
Dysplasia, Mandibuloacral, with Type B Lipodystrophy 39

Characteristics:

Orphanet epidemiological data:

58
mandibuloacral dysplasia with type b lipodystrophy
Inheritance: Autosomal recessive;

OMIM®:

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

Miscellaneous:
onset in early childhood
genetic heterogeneity (see mada, )


HPO:

31
mandibuloacral dysplasia with type b lipodystrophy:
Inheritance autosomal recessive inheritance heterogeneous


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 B Lipodystrophy

OMIM® : 57 Mandibuloacral dysplasia with type B lipodystrophy (MADB) is a rare autosomal recessive disorder characterized by postnatal growth retardation, craniofacial anomalies such as mandibular hypoplasia, skeletal anomalies such as progressive osteolysis of the terminal phalanges and clavicles, and skin changes such as mottled hyperpigmentation and atrophy. The lipodystrophy is characterized by generalized loss of subcutaneous fat involving the face, trunk, and extremities. Some patients have a progeroid appearance. Metabolic complications associated with insulin resistance have been reported (Schrander-Stumpel et al., 1992; summary by Simha et al., 2003). For a general phenotypic description of lipodystrophy associated with mandibuloacral dysplasia, see MADA (248370). (608612) (Updated 05-Apr-2021)

MalaCards based summary : Mandibuloacral Dysplasia with Type B Lipodystrophy, also known as madb, is related to mandibuloacral dysplasia with type a lipodystrophy and acroosteolysis. An important gene associated with Mandibuloacral Dysplasia with Type B Lipodystrophy is ZMPSTE24 (Zinc Metallopeptidase STE24). Affiliated tissues include eye, bone and breast, and related phenotypes are micrognathia and narrow mouth

UniProtKB/Swiss-Prot : 72 Mandibuloacral dysplasia with type B lipodystrophy: A disorder characterized by mandibular and clavicular hypoplasia, acroosteolysis, delayed closure of the cranial suture, joint contractures, and generalized lipodystrophy with loss of subcutaneous fat from the extremities, face, neck and trunk.

Related Diseases for Mandibuloacral Dysplasia with Type B Lipodystrophy

Diseases in the Mandibuloacral Dysplasia with Type a Lipodystrophy family:

Mandibuloacral Dysplasia with Type B Lipodystrophy

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

# Related Disease Score Top Affiliating Genes
1 mandibuloacral dysplasia with type a lipodystrophy 11.4
2 acroosteolysis 10.3
3 adrenomyodystrophy 10.3
4 mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome 10.3
5 calcinosis 10.3
6 adenocarcinoma 9.9
7 premature aging 9.9

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



Diseases related to Mandibuloacral Dysplasia with Type B Lipodystrophy

Symptoms & Phenotypes for Mandibuloacral Dysplasia with Type B Lipodystrophy

Human phenotypes related to Mandibuloacral Dysplasia with Type B Lipodystrophy:

58 31 (show top 50) (show all 52)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
2 narrow mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000160
3 large fontanelles 58 31 hallmark (90%) Very frequent (99-80%) HP:0000239
4 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
5 thin skin 58 31 hallmark (90%) Very frequent (99-80%) HP:0000963
6 dermal atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0004334
7 osteolytic defects of the distal phalanges of the hand 58 31 hallmark (90%) Very frequent (99-80%) HP:0009839
8 acroosteolysis of distal phalanges (feet) 58 31 hallmark (90%) Very frequent (99-80%) HP:0001870
9 aplasia/hypoplasia of the clavicles 58 31 hallmark (90%) Very frequent (99-80%) HP:0006710
10 abnormality of the dentition 58 31 frequent (33%) Frequent (79-30%) HP:0000164
11 short nose 58 31 frequent (33%) Frequent (79-30%) HP:0003196
12 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
13 alopecia 58 31 frequent (33%) Frequent (79-30%) HP:0001596
14 hyperlipidemia 58 31 frequent (33%) Frequent (79-30%) HP:0003077
15 proptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000520
16 convex nasal ridge 58 31 frequent (33%) Frequent (79-30%) HP:0000444
17 nail dystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0008404
18 insulin resistance 58 31 frequent (33%) Frequent (79-30%) HP:0000855
19 hyperpigmentation of the skin 58 31 frequent (33%) Frequent (79-30%) HP:0000953
20 progeroid facial appearance 58 31 frequent (33%) Frequent (79-30%) HP:0005328
21 generalized lipodystrophy 58 31 frequent (33%) Frequent (79-30%) HP:0009064
22 calcinosis 58 31 frequent (33%) Frequent (79-30%) HP:0003761
23 abnormal fingertip morphology 58 31 frequent (33%) Frequent (79-30%) HP:0001211
24 delayed puberty 58 31 occasional (7.5%) Occasional (29-5%) HP:0000823
25 high palate 31 HP:0000218
26 flexion contracture 31 HP:0001371
27 hyperinsulinemia 31 HP:0000842
28 abnormality of the skeletal system 58 Very frequent (99-80%)
29 dental crowding 31 HP:0000678
30 prematurely aged appearance 58 Frequent (79-30%)
31 abnormality of the neck 31 HP:0000464
32 wormian bones 31 HP:0002645
33 abnormality of the hair 58 Frequent (79-30%)
34 delayed cranial suture closure 31 HP:0000270
35 sparse hair 31 HP:0008070
36 osteolysis 58 Very frequent (99-80%)
37 short clavicles 31 HP:0000894
38 short phalanx of finger 31 HP:0009803
39 premature loss of teeth 31 HP:0006480
40 brittle hair 31 HP:0002299
41 abnormality of hair texture 31 HP:0010719
42 mottled pigmentation 31 HP:0001070
43 hyperglycemia 31 HP:0003074
44 loss of subcutaneous adipose tissue in limbs 31 HP:0003635
45 hypoplasia of teeth 31 HP:0000685
46 bird-like facies 31 HP:0000320
47 insulin-resistant diabetes mellitus 31 HP:0000831
48 progressive clavicular acroosteolysis 31 HP:0000905
49 loss of facial adipose tissue 31 HP:0000292
50 narrow nasal ridge 31 HP:0000418

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Endocrine Features:
glucose intolerance
insulin-resistant diabetes mellitus

Skeletal Skull:
wormian bones
delayed closure of cranial sutures

Skin Nails Hair Skin:
mottled pigmentation
skin atrophy

Muscle Soft Tissue:
loss of facial adipose tissue
loss of subcutaneous adipose tissue from extremities
generalized lipodystrophy (abnormal distribution of subcutaneous fat)
loss of truncal adipose tissue
loss of adipose tissue around the neck

Head And Neck Mouth:
high-arched palate
small mouth

Head And Neck Eyes:
prominent eyes

Skeletal Hands:
acroosteolysis of distal phalanges
shortened phalanges

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

Laboratory Abnormalities:
hyperinsulinemia
hyperlipidemia
hyperglycemia

Skin Nails Hair Hair:
sparse hair
brittle hair
alopecia, partial

Head And Neck Face:
bird-like facies
mandibular hypoplasia
loss of facial subcutaneous adipose tissue

Head And Neck Neck:
decreased adipose tissue around neck

Skeletal:
joint contractures

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

Clinical features from OMIM®:

608612 (Updated 05-Apr-2021)

Drugs & Therapeutics for Mandibuloacral Dysplasia with Type B Lipodystrophy

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

Genetic Tests for Mandibuloacral Dysplasia with Type B Lipodystrophy

Genetic tests related to Mandibuloacral Dysplasia with Type B Lipodystrophy:

# Genetic test Affiliating Genes
1 Mandibuloacral Dysplasia with Type B Lipodystrophy 29 ZMPSTE24

Anatomical Context for Mandibuloacral Dysplasia with Type B Lipodystrophy

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

40
Eye, Bone, Breast, Brain, Cortex, Spinal Cord, Smooth Muscle

Publications for Mandibuloacral Dysplasia with Type B Lipodystrophy

Articles related to Mandibuloacral Dysplasia with Type B Lipodystrophy:

(show top 50) (show all 65)
# Title Authors PMID Year
1
Early onset mandibuloacral dysplasia due to compound heterozygous mutations in ZMPSTE24. 57 6
20814950 2010
2
Severe mandibuloacral dysplasia caused by novel compound heterozygous ZMPSTE24 mutations in two Japanese siblings. 57 6
18435794 2008
3
Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. 57 6
12913070 2003
4
A shared founder mutation underlies restrictive dermopathy in Old Colony (Dutch-German) Mennonite and Hutterite patients in North America. 6
22495976 2012
5
Restrictive dermopathy and ZMPSTE24 mutations in Mennonites: Evidence for allelic heterogeneity. 6
20635340 2010
6
Homozygosity for the common mutation c.1085dupT in the ZMPSTE24 gene in a Mennonite baby with restrictive dermopathy and placenta abruption. 6
20034068 2010
7
Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy. 6
16297189 2005
8
Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. 6
15317753 2004
9
Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. 57
12788894 2003
10
Body fat distribution and metabolic derangements in patients with familial partial lipodystrophy associated with mandibuloacral dysplasia. 57
11836320 2002
11
Restrictive dermopathy. 6
8152880 1993
12
A severe case of mandibuloacral dysplasia in a girl. 57
1642279 1992
13
Congenital contractures, edema, hyperkeratosis, and intrauterine growth retardation: a fatal syndrome in Hutterite and Mennonite kindreds. 6
3840649 1985
14
Benchmarking Force Field and the ANI Neural Network Potentials for the Torsional Potential Energy Surface of Biaryl Drug Fragments. 61
33263401 2020
15
Global transcriptomic analysis of Cronobacter sakazakii CICC 21544 by RNA-seq under inorganic acid and organic acid stresses. 61
32156398 2020
16
Therapeutic Breast Reconstruction Using Gene Therapy-Delivered IFNγ Immunotherapy. 61
31658961 2020
17
Mandibuloacral dysplasia type B (MADB): a cohort of eight patients from Suriname with a homozygous founder mutation in ZMPSTE24 (FACE1), clinical diagnostic criteria and management guidelines. 61
31856865 2019
18
Mandibuloacral dysplasia with type B lipodystrophy in a patient from Chile. 61
30919593 2019
19
Mammalian Annotation Database for improved annotation and functional classification of Omics datasets from less well-annotated organisms. 61
31353404 2019
20
Stimulatory effect of desipramine on lung metastases of adenocarcinoma MADB 106 in stress highly-sensitive and stress non-reactive rats. 61
28433460 2018
21
Dexmedetomidine promotes metastasis in rodent models of breast, lung, and colon cancers. 61
29397129 2018
22
The inhibition of mating in Phycomyces blakesleeanus by light is dependent on the MadA-MadB complex that acts in a sex-specific manner. 61
28214601 2017
23
Myosin-driven transport network in plants. 61
28096376 2017
24
Progeroid syndrome patients with ZMPSTE24 deficiency could benefit when treated with rapamycin and dimethylsulfoxide. 61
28050601 2017
25
Effect of the ifenprodil administered into rostral anterior cingulate cortex on pain-related aversion in rats with bone cancer pain. 61
27871230 2016
26
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B. 61
27410998 2016
27
Anti-phagocytosis and tumor cell targeting micelles prepared from multifunctional cell membrane mimetic polymers. 61
32263470 2016
28
Inhibitory effects of intrathecal p38β antisense oligonucleotide on bone cancer pain in rats. 61
25550805 2014
29
Rapid screening of different types of antitumor compound groups from traditional chinese medicine by hollow fiber cell fishing with high performance liquid chromatography. 61
25360674 2014
30
Incomplete tumour control following DNA vaccination against rat gliomas expressing a model antigen. 61
23132370 2013
31
Increase in tumor size following intratumoral injection of immunostimulatory CpG-containing oligonucleotides in a rat glioma model. 61
19798500 2010
32
Web2OHS: a Web2.0-based omnibearing homecare system. 61
20007036 2010
33
Does analgesia and condition influence immunity after surgery? Effects of fentanyl, ketamine and clonidine on natural killer activity at different ages. 61
19487949 2010
34
Phycomyces MADB interacts with MADA to form the primary photoreceptor complex for fungal phototropism. 61
19380729 2009
35
Using genetically modified microvascular free flaps to deliver local cancer immunotherapy with minimal systemic toxicity. 61
18453976 2008
36
[The cellular location and significance of p38alpha/beta isoforms in the lumbar spinal cord of the bone cancer pain rats]. 61
17403314 2007
37
Microarray analysis in clinical oncology: pre-clinical optimization using needle core biopsies from xenograft tumors. 61
15151703 2004
38
The NCI/CIT microArray database (mAdb) system - bioinformatics for the management and analysis of Affymetrix and spotted gene expression microarrays. 61
14728569 2003
39
Combination of stereotactic radiosurgery and cytokine gene-transduced tumor cell vaccination: a new strategy against metastatic brain tumors. 61
11765844 2001
40
The effects of a Chinese herb formula, anti-cancer number one (ACNO), on NK cell activity and tumor metastasis in rats. 61
11606026 2001
41
Social stress in laboratory rats: behavior, immune function, and tumor metastasis. 61
11438366 2001
42
A comparison of microarray databases. 61
11465732 2001
43
Potent antitumor effects of intra-arterial injection of fibroblasts genetically engineered to express IL-12 in liver metastasis model of rat: no additional benefit of using retroviral producer cell. 61
11219489 2001
44
Light-induced absorbance changes in Phycomyces: evidence for cryptochrome-associated flavosemiquinones. 61
10333590 1999
45
Sequence of a gene cluster from Malonomonas rubra encoding components of the malonate decarboxylase Na+ pump and evidence for their function. 61
9128730 1997
46
Electron-microscopic observations on the muscular coat of swell bodies in human nasal mucosa. 61
7934603 1994
47
Altered pterin patterns in photobehavioral mutants of Phycomyces blakesleeanus. 61
1542705 1992
48
Altered flavin patterns in photobehavioral mutants of Phycomyces blakesleeanus. 61
1542706 1992
49
A new gene (madI) involved in the phototropic response of Phycomyces. 61
2259336 1990
50
High-and low-intensity photosystems in Phycomyces phototropism: Effects of mutations in genes madA, madB, and madC. 61
24212497 1989

Variations for Mandibuloacral Dysplasia with Type B Lipodystrophy

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

6 (show all 49)
# 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 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1349G>A (p.Trp450Ter) SNV Pathogenic 30586 rs281875376 GRCh37: 1:40758262-40758262
GRCh38: 1:40292590-40292590
5 ZMPSTE24 NM_005857.4(ZMPSTE24):c.1085dupT (p.Leu362Phefs) Duplication Pathogenic 4271 rs137854889 GRCh37: 1:40756542-40756543
GRCh38: 1:40290870-40290871
6 ZMPSTE24 NM_005857.5(ZMPSTE24):c.475-2A>G SNV Pathogenic 140528 rs312262685 GRCh37: 1:40735645-40735645
GRCh38: 1:40269973-40269973
7 ZMPSTE24 NM_005857.5(ZMPSTE24):c.807dup (p.Gly270fs) Duplication Pathogenic 1032364 GRCh37: 1:40747051-40747052
GRCh38: 1:40281379-40281380
8 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1259C>G (p.Ala420Gly) SNV Uncertain significance 876056 GRCh37: 1:40758172-40758172
GRCh38: 1:40292500-40292500
9 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*800T>C SNV Uncertain significance 876118 GRCh37: 1:40759141-40759141
GRCh38: 1:40293469-40293469
10 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*909G>A SNV Uncertain significance 876119 GRCh37: 1:40759250-40759250
GRCh38: 1:40293578-40293578
11 ZMPSTE24 NM_005857.5(ZMPSTE24):c.467A>G (p.Asn156Ser) SNV Uncertain significance 876968 GRCh37: 1:40734200-40734200
GRCh38: 1:40268528-40268528
12 ZMPSTE24 NM_005857.5(ZMPSTE24):c.474G>A (p.Gln158=) SNV Uncertain significance 874176 GRCh37: 1:40734207-40734207
GRCh38: 1:40268535-40268535
13 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*248G>A SNV Uncertain significance 877016 GRCh37: 1:40758589-40758589
GRCh38: 1:40292917-40292917
14 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*1042G>A SNV Uncertain significance 876120 GRCh37: 1:40759383-40759383
GRCh38: 1:40293711-40293711
15 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1106G>A (p.Arg369Gln) SNV Uncertain significance 297265 rs41268053 GRCh37: 1:40756572-40756572
GRCh38: 1:40290900-40290900
16 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*212G>T SNV Uncertain significance 297268 rs1057515560 GRCh37: 1:40758553-40758553
GRCh38: 1:40292881-40292881
17 ZMPSTE24 NM_005857.5(ZMPSTE24):c.715G>A (p.Glu239Lys) SNV Uncertain significance 874177 GRCh37: 1:40737653-40737653
GRCh38: 1:40271981-40271981
18 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*663T>G SNV Uncertain significance 874230 GRCh37: 1:40759004-40759004
GRCh38: 1:40293332-40293332
19 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*1462A>C SNV Uncertain significance 874276 GRCh37: 1:40759803-40759803
GRCh38: 1:40294131-40294131
20 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*1503G>A SNV Uncertain significance 874277 GRCh37: 1:40759844-40759844
GRCh38: 1:40294172-40294172
21 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1028G>A (p.Gly343Glu) SNV Uncertain significance 875107 GRCh37: 1:40751670-40751670
GRCh38: 1:40285998-40285998
22 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*710T>C SNV Uncertain significance 875155 GRCh37: 1:40759051-40759051
GRCh38: 1:40293379-40293379
23 ZMPSTE24 NM_005857.5(ZMPSTE24):c.52C>T (p.Arg18Cys) SNV Uncertain significance 875987 GRCh37: 1:40723995-40723995
GRCh38: 1:40258323-40258323
24 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1165T>C (p.Leu389=) SNV Uncertain significance 725823 rs138014589 GRCh37: 1:40756631-40756631
GRCh38: 1:40290959-40290959
25 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1277G>A (p.Gly426Glu) SNV Uncertain significance 876057 GRCh37: 1:40758190-40758190
GRCh38: 1:40292518-40292518
26 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*38T>C SNV Uncertain significance 876058 GRCh37: 1:40758379-40758379
GRCh38: 1:40292707-40292707
27 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*1492A>G SNV Uncertain significance 297277 rs1057515561 GRCh37: 1:40759833-40759833
GRCh38: 1:40294161-40294161
28 ZMPSTE24 NM_005857.5(ZMPSTE24):c.555A>G (p.Leu185=) SNV Uncertain significance 297261 rs1057515520 GRCh37: 1:40735727-40735727
GRCh38: 1:40270055-40270055
29 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*536C>T SNV Uncertain significance 297271 rs1057515564 GRCh37: 1:40758877-40758877
GRCh38: 1:40293205-40293205
30 ZMPSTE24 NM_005857.5(ZMPSTE24):c.1050T>C (p.Ile350=) SNV Uncertain significance 297264 rs1057515559 GRCh37: 1:40751692-40751692
GRCh38: 1:40286020-40286020
31 ZMPSTE24 NM_005857.5(ZMPSTE24):c.30G>T (p.Leu10Phe) SNV Uncertain significance 297259 rs1057515519 GRCh37: 1:40723973-40723973
GRCh38: 1:40258301-40258301
32 ZMPSTE24 NM_005857.5(ZMPSTE24):c.325T>G (p.Cys109Gly) SNV Uncertain significance 130790 rs141386841 GRCh37: 1:40733512-40733512
GRCh38: 1:40267840-40267840
33 ZMPSTE24 NM_005857.5(ZMPSTE24):c.-13G>A SNV Uncertain significance 297258 rs140415968 GRCh37: 1:40723931-40723931
GRCh38: 1:40258259-40258259
34 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*1140T>C SNV Uncertain significance 297275 rs1057515452 GRCh37: 1:40759481-40759481
GRCh38: 1:40293809-40293809
35 ZMPSTE24 NM_005857.5(ZMPSTE24):c.770-14T>C SNV Uncertain significance 297262 rs770003597 GRCh37: 1:40747001-40747001
GRCh38: 1:40281329-40281329
36 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*296T>C SNV Uncertain significance 297269 rs990763063 GRCh37: 1:40758637-40758637
GRCh38: 1:40292965-40292965
37 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*696A>G SNV Uncertain significance 297273 rs1057515522 GRCh37: 1:40759037-40759037
GRCh38: 1:40293365-40293365
38 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*1313T>C SNV Uncertain significance 297276 rs975014449 GRCh37: 1:40759654-40759654
GRCh38: 1:40293982-40293982
39 ZMPSTE24 NM_005857.5(ZMPSTE24):c.237C>T (p.Phe79=) SNV Likely benign 297260 rs115173390 GRCh37: 1:40726624-40726624
GRCh38: 1:40260952-40260952
40 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*733A>G SNV Likely benign 875156 GRCh37: 1:40759074-40759074
GRCh38: 1:40293402-40293402
41 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*1240A>G SNV Likely benign 877069 GRCh37: 1:40759581-40759581
GRCh38: 1:40293909-40293909
42 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*678G>C SNV Likely benign 297272 rs67294434 GRCh37: 1:40759019-40759019
GRCh38: 1:40293347-40293347
43 ZMPSTE24 NM_005857.5(ZMPSTE24):c.453A>G (p.Glu151=) SNV Benign 729079 rs115755400 GRCh37: 1:40734186-40734186
GRCh38: 1:40268514-40268514
44 ZMPSTE24 NM_005857.5(ZMPSTE24):c.990C>T (p.Leu330=) SNV Benign 140543 rs116284141 GRCh37: 1:40751632-40751632
GRCh38: 1:40285960-40285960
45 ZMPSTE24 NM_005857.5(ZMPSTE24):c.651T>C (p.Asp217=) SNV Benign 95316 rs2076697 GRCh37: 1:40737589-40737589
GRCh38: 1:40271917-40271917
46 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*521A>G SNV Benign 297270 rs75622994 GRCh37: 1:40758862-40758862
GRCh38: 1:40293190-40293190
47 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*723C>T SNV Benign 140500 rs10489431 GRCh37: 1:40759064-40759064
GRCh38: 1:40293392-40293392
48 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*890A>G SNV Benign 140501 rs10489432 GRCh37: 1:40759231-40759231
GRCh38: 1:40293559-40293559
49 ZMPSTE24 NM_005857.5(ZMPSTE24):c.*59C>A SNV Benign 297266 rs193076795 GRCh37: 1:40758400-40758400
GRCh38: 1:40292728-40292728

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

72
# Symbol AA change Variation ID SNP ID
1 ZMPSTE24 p.Trp340Arg VAR_019308 rs121908093
2 ZMPSTE24 p.Pro248Leu VAR_064501 rs121908095
3 ZMPSTE24 p.Asn265Ser VAR_064502 rs281875371

Expression for Mandibuloacral Dysplasia with Type B Lipodystrophy

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

Pathways for Mandibuloacral Dysplasia with Type B Lipodystrophy

GO Terms for Mandibuloacral Dysplasia with Type B Lipodystrophy

Sources for Mandibuloacral Dysplasia with Type B 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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