MCID: MND002
MIFTS: 26

Mandibuloacral Dysplasia with Type B Lipodystrophy

Categories: Genetic diseases, Rare diseases, Bone diseases, Skin diseases, Endocrine diseases, Fetal 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 53 59 75 29 13 6 73
Madb 57 53 75
Lipodystrophy, Type B, Associated with Mandibuloacral Dysplasia 57 53
Lipodystrophy Type B Associated with Mandibuloacral Dysplasia 75
Dysplasia, Mandibuloacral, with Type B Lipodystrophy 40

Characteristics:

Orphanet epidemiological data:

59
mandibuloacral dysplasia with type b lipodystrophy
Inheritance: Autosomal recessive;

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
mandibuloacral dysplasia with type b lipodystrophy:
Inheritance heterogeneous autosomal recessive inheritance


Classifications:



Summaries for Mandibuloacral Dysplasia with Type B Lipodystrophy

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Mandibuloacral Dysplasia with Type B Lipodystrophy, also known as madb, is related to mandibuloacral dysplasia with type a lipodystrophy. An important gene associated with Mandibuloacral Dysplasia with Type B Lipodystrophy is ZMPSTE24 (Zinc Metallopeptidase STE24). Affiliated tissues include skin, bone and eye, and related phenotypes are abnormality of the dentition and short nose

Wikipedia : 76 Madb or MADB can refer... more...

Description from OMIM: 608612

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 10.9

Symptoms & Phenotypes for Mandibuloacral Dysplasia with Type B Lipodystrophy

Symptoms via clinical synopsis from OMIM:

57
Skeletal Skull:
wormian bones
delayed closure of cranial sutures

Laboratory Abnormalities:
hyperinsulinemia
hyperlipidemia
hyperglycemia

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

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

Skeletal:
joint contractures

Chest Ribs Sternum Clavicles And Scapulae:
clavicular hypoplasia
progressive acroosteolysis of the clavicle

Head And Neck Nose:
pinched nose
pointed nose
beak nose

Skeletal Feet:
acroosteolysis of distal phalanges

Endocrine Features:
glucose intolerance
insulin-resistant diabetes mellitus

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

Skin Nails Hair Skin:
mottled pigmentation
skin atrophy

Head And Neck Mouth:
high-arched palate
small mouth

Head And Neck Eyes:
prominent eyes

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

Skeletal Hands:
acroosteolysis of distal phalanges
shortened phalanges

Head And Neck Neck:
decreased adipose tissue around neck


Clinical features from OMIM:

608612

Human phenotypes related to Mandibuloacral Dysplasia with Type B Lipodystrophy:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 abnormality of the dentition 59 32 frequent (33%) Frequent (79-30%) HP:0000164
2 short nose 59 32 frequent (33%) Frequent (79-30%) HP:0003196
3 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
4 delayed puberty 59 32 occasional (7.5%) Occasional (29-5%) HP:0000823
5 micrognathia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000347
6 nail dystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0008404
7 thin skin 59 32 hallmark (90%) Very frequent (99-80%) HP:0000963
8 alopecia 59 32 frequent (33%) Frequent (79-30%) HP:0001596
9 hyperlipidemia 59 32 frequent (33%) Frequent (79-30%) HP:0003077
10 narrow mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000160
11 convex nasal ridge 59 32 frequent (33%) Frequent (79-30%) HP:0000444
12 proptosis 59 32 frequent (33%) Frequent (79-30%) HP:0000520
13 large fontanelles 59 32 hallmark (90%) Very frequent (99-80%) HP:0000239
14 short distal phalanx of finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0009882
15 insulin resistance 59 32 frequent (33%) Frequent (79-30%) HP:0000855
16 hyperpigmentation of the skin 59 32 frequent (33%) Frequent (79-30%) HP:0000953
17 aplasia/hypoplasia of the clavicles 59 32 hallmark (90%) Very frequent (99-80%) HP:0006710
18 progeroid facial appearance 59 32 frequent (33%) Frequent (79-30%) HP:0005328
19 generalized lipodystrophy 59 32 frequent (33%) Frequent (79-30%) HP:0009064
20 dermal atrophy 59 32 hallmark (90%) Very frequent (99-80%) HP:0004334
21 acroosteolysis of distal phalanges (feet) 59 32 hallmark (90%) Very frequent (99-80%) HP:0001870
22 osteolytic defects of the distal phalanges of the hand 59 32 hallmark (90%) Very frequent (99-80%) HP:0009839
23 abnormality of the fingertips 59 32 frequent (33%) Frequent (79-30%) HP:0001211
24 calcinosis 59 32 frequent (33%) Frequent (79-30%) HP:0003761
25 high palate 32 HP:0000218
26 flexion contracture 32 HP:0001371
27 wormian bones 32 HP:0002645
28 glucose intolerance 32 HP:0000833
29 hyperinsulinemia 32 HP:0000842
30 abnormality of the skeletal system 59 Very frequent (99-80%)
31 dental crowding 32 HP:0000678
32 prematurely aged appearance 59 Frequent (79-30%)
33 abnormality of the neck 32 HP:0000464
34 osteolysis 59 Very frequent (99-80%)
35 abnormality of the hair 59 Frequent (79-30%)
36 sparse hair 32 HP:0008070
37 bird-like facies 32 HP:0000320
38 short clavicles 32 HP:0000894
39 delayed cranial suture closure 32 HP:0000270
40 insulin-resistant diabetes mellitus 32 HP:0000831
41 short phalanx of finger 32 HP:0009803
42 brittle hair 32 HP:0002299
43 hyperglycemia 32 HP:0003074
44 abnormality of hair texture 32 HP:0010719
45 mottled pigmentation 32 HP:0001070
46 loss of subcutaneous adipose tissue in limbs 32 HP:0003635
47 hypoplasia of teeth 32 HP:0000685
48 loss of facial adipose tissue 32 HP:0000292
49 premature loss of teeth 32 HP:0006480
50 narrow nasal ridge 32 HP:0000418

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:

41
Skin, Bone, Eye

Publications for Mandibuloacral Dysplasia with Type B Lipodystrophy

Variations for Mandibuloacral Dysplasia with Type B Lipodystrophy

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

75
# 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

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

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs) duplication Pathogenic rs137854889 GRCh37 Chromosome 1, 40756551: 40756551
2 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1085dupT (p.Leu362Phefs) duplication Pathogenic rs137854889 GRCh38 Chromosome 1, 40290879: 40290879
3 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1018T> C (p.Trp340Arg) single nucleotide variant Pathogenic rs121908093 GRCh37 Chromosome 1, 40751660: 40751660
4 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1018T> C (p.Trp340Arg) single nucleotide variant Pathogenic rs121908093 GRCh38 Chromosome 1, 40285988: 40285988
5 ZMPSTE24 NM_005857.4(ZMPSTE24): c.121C> T (p.Gln41Ter) single nucleotide variant Pathogenic rs121908094 GRCh37 Chromosome 1, 40724064: 40724064
6 ZMPSTE24 NM_005857.4(ZMPSTE24): c.121C> T (p.Gln41Ter) single nucleotide variant Pathogenic rs121908094 GRCh38 Chromosome 1, 40258392: 40258392
7 ZMPSTE24 NM_005857.4(ZMPSTE24): c.743C> T (p.Pro248Leu) single nucleotide variant Pathogenic rs121908095 GRCh37 Chromosome 1, 40737681: 40737681
8 ZMPSTE24 NM_005857.4(ZMPSTE24): c.743C> T (p.Pro248Leu) single nucleotide variant Pathogenic rs121908095 GRCh38 Chromosome 1, 40272009: 40272009
9 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1349G> A (p.Trp450Ter) single nucleotide variant Pathogenic rs281875376 GRCh37 Chromosome 1, 40758262: 40758262
10 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1349G> A (p.Trp450Ter) single nucleotide variant Pathogenic rs281875376 GRCh38 Chromosome 1, 40292590: 40292590
11 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs) duplication Pathogenic rs281875375 GRCh37 Chromosome 1, 40758176: 40758176
12 ZMPSTE24 NM_005857.4(ZMPSTE24): c.1263dupT (p.Ala422Cysfs) duplication Pathogenic rs281875375 GRCh38 Chromosome 1, 40292504: 40292504

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
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9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
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32 HPO
33 ICD10
34 ICD10 via Orphanet
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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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