Mandibuloacral dysplasia with type B lipodystrophy

General Information (adopted from Orphanet):

Synonyms, Signs: LIPODYSTROPHY, TYPE B, ASSOCIATED WITH MANDIBULOACRAL DYSPLASIA
MADB
Number of Symptoms 53
OrphanetNr: 90154
OMIM Id: 608612
ICD-10: Q87.5
UMLs: C1837756
MeSH: C535706
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Mandibuloacral dysplasia
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare endocrine disease
 -Rare genetic disease
 -Rare skin disease

Symptom Information: Sort by abundance 

1
 (HPO:0006480) Premature loss of teeth 23 / 7739
2
 (HPO:0000444) Convex nasal ridge Frequent [Orphanet] 87 / 7739
3
 (HPO:0000270) Delayed cranial suture closure 33 / 7739
4
 (HPO:0000464) Abnormality of the neck 31 / 7739
5
 (HPO:0000320) Bird-like facies 4 / 7739
6
 (HPO:0003196) Short nose Frequent [Orphanet] 264 / 7739
7
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
8
 (HPO:0000678) Dental crowding 65 / 7739
9
 (HPO:0000418) Narrow nasal ridge 15 / 7739
10
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
11
 (HPO:0000347) Micrognathia 426 / 7739
12
 (HPO:0000160) Narrow mouth Very frequent [Orphanet] 188 / 7739
13
 (HPO:0000164) Abnormality of the teeth Frequent [Orphanet] 291 / 7739
14
 (HPO:0000308) Microretrognathia Very frequent [Orphanet] 78 / 7739
15
 (HPO:0000292) Loss of facial adipose tissue 6 / 7739
16
 (HPO:0000831) Insulin-resistant diabetes mellitus 22 / 7739
17
 (HPO:0008373) Puberty and gonadal disorders Occasional [Orphanet] 156 / 7739
18
 (HPO:0000842) Hyperinsulinemia 39 / 7739
19
 (HPO:0001870) Acroosteolysis of distal phalanges (feet) 2 / 7739
20
 (HPO:0001371) Flexion contracture 220 / 7739
21
 (HPO:0000894) Short clavicles 30 / 7739
22
 (HPO:0000924) Abnormality of the skeletal system Very frequent [Orphanet] 114 / 7739
23
 (HPO:0009839) Osteolytic defects of the distal phalanges of the hand 6 / 7739
24
 (HPO:0009803) Short phalanx of finger 79 / 7739
25
 (HPO:0002797) Osteolysis Very frequent [Orphanet] 68 / 7739
26
 (HPO:0006660) Aplastic clavicles Very frequent [Orphanet] 70 / 7739
27
 (HPO:0009882) Short distal phalanx of finger Very frequent [Orphanet] 125 / 7739
28
 (HPO:0000905) Progressive clavicular acroosteolysis 4 / 7739
29
 (HPO:0004322) Short stature Frequent [Orphanet] 1232 / 7739
30
 (HPO:0001006) Hypotrichosis Frequent [Orphanet] 219 / 7739
31
 (HPO:0001597) Abnormality of the nail Frequent [Orphanet] 115 / 7739
32
 (HPO:0002299) Brittle hair 52 / 7739
33
 (HPO:0000963) Thin skin Very frequent [Orphanet] 96 / 7739
34
 (HPO:0007495) Prematurely aged appearance Frequent [Orphanet] 44 / 7739
35
 (HPO:0000987) Atypical scarring of skin Frequent [Orphanet] 58 / 7739
36
 (HPO:0008065) Aplasia/Hypoplasia of the skin Frequent [Orphanet] 81 / 7739
37
 (HPO:0008070) Sparse hair 94 / 7739
38
 (HPO:0001595) Abnormality of the hair Frequent [Orphanet] 89 / 7739
39
 (HPO:0001070) Mottled pigmentation 8 / 7739
40
 (HPO:0004334) Dermal atrophy 34 / 7739
41
 (HPO:0007400) Irregular hyperpigmentation Frequent [Orphanet] 72 / 7739
42
 (HPO:0003119) Abnormality of lipid metabolism Frequent [Orphanet] 60 / 7739
43
 (HPO:0000855) Insulin resistance Frequent [Orphanet] 32 / 7739
44
 (HPO:0000833) Glucose intolerance 20 / 7739
45
 (HPO:0003077) Hyperlipidemia 37 / 7739
46
 (HPO:0003074) Hyperglycemia 37 / 7739
47
 (HPO:0003635) Loss of subcutaneous adipose tissue in limbs 6 / 7739
48
 (HPO:0009125) Lipodystrophy Frequent [Orphanet] 54 / 7739
49
 (HPO:0009002) Loss of truncal subcutaneous adipose tissue 3 / 7739
50
 (HPO:0005995) Decreased adipose tissue around neck 1 / 7739
51
 (HPO:0009064) Generalized lipodystrophy 17 / 7739
52
 (MedDRA:10054008) Delayed closure of cranial sutures 2 / 7739
53
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Schrander-Stumpel et al. (1992) reported a girl who presented at birth with a small chin, small nose and mouth, retrognathia, and thin facial skin. By age 2 years, her skin was very thin and tense on her limbs, ...
Molecular genetics OMIM In a woman with MAD and generalized lipodystrophy first reported by Schrander-Stumpel et al. (1992), Agarwal et al. (2003) identified compound heterozygosity for 2 mutations in the ZMPSTE24 gene (606480.0001 and 606480.0002). The unaffected parents and 2 unaffected ...