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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Craniofacial Abnormalities (D019465)
Parent Node: Lipodystrophy (D008060)
..Starting node ..Mandibuloacral dysplasia with type B lipodystrophy (C535706)
Child Nodes:
Sister Nodes:
..HIV-Associated Lipodystrophy Syndrome (D039682)
..Lipoatrophy with diabetes, hepatic steatosis, cardiomyopathy, and leukomelanodermic papules (C535905)
..Lipodystrophy, Congenital Generalized (D052497) 3
..Lipodystrophy, Familial Partial (D052496) 1
..Lipodystrophy, Partial, Acquired (C562448)
..Mandibuloacral dysplasia with type A lipodystrophy (C535705)
..Mandibuloacral dysplasia with type B lipodystrophy (C535706)
..Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (C536329)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

6764

Name:

Mandibuloacral dysplasia with type B lipodystrophy

Definition:

Alternative IDs:

OMIM:608612

ParentIDs:

MESH:D008060|MESH:D019465

TreeNumbers:

C05.660.207/C535706 |C16.131.621.207/C535706 |C17.800.849.391/C535706 |C18.452.584.625/C535706 |C18.452.880.391/C535706

Synonyms:

Lipodystrophy, type B, associated with mandibuloacral dysplasia |MADB

Slim Mappings:

Congenital abnormality|Metabolic disease|Musculoskeletal disease|Skin disease

Reference:

MedGen: C535706
MeSH: C535706
OMIM: 608612;

Genes: ZMPSTE24;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0010719	Abnormality of hair texture
3	HP:0000464	Abnormality of the neck
4	HP:0001870	Acroosteolysis of distal phalanges (feet)
5	HP:0000320	Bird-like facies
6	HP:0002299	Brittle hair
7	HP:0005995	Decreased adipose tissue around neck
8	HP:0000270	Delayed cranial suture closure
9	HP:0000678	Dental crowding
10	HP:0004334	Dermal atrophy
11	HP:0001371	Flexion contracture
12	HP:0009064	Generalized lipodystrophy
13	HP:0001425	Heterogeneous
14	HP:0000218	High palate
15	HP:0003074	Hyperglycemia
16	HP:0000842	Hyperinsulinemia
17	HP:0003077	Hyperlipidemia
18	HP:0000685	Hypoplasia of teeth
19	HP:0000831	Insulin-resistant diabetes mellitus
20	HP:0000292	Loss of facial adipose tissue
21	HP:0003635	Loss of subcutaneous adipose tissue in limbs
22	HP:0009002	Loss of truncal subcutaneous adipose tissue
23	HP:0000347	Micrognathia
24	HP:0001070	Mottled pigmentation
25	HP:0000160	Narrow mouth
26	HP:0000418	Narrow nasal ridge
27	HP:0000833	obsolete Glucose intolerance
28	HP:0009839	Osteolytic defects of the distal phalanges of the hand
29	HP:0006480	Premature loss of teeth
30	HP:0000905	Progressive clavicular acroosteolysis
31	HP:0000520	Proptosis
32	HP:0000894	Short clavicles
33	HP:0009803	Short phalanx of finger
34	HP:0008070	Sparse hair
35	HP:0002645	Wormian bones

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_005857.4(ZMPSTE24):c.121C>T (p.Gln41Ter)	10269	ZMPSTE24	Pathogenic	121908094	RCV000004495; RCV000128727;	N	MedGen:C1837756,OMIM:608612,ORPHA:90154; MedGen:CN221809	1	40724064	40724064	NM_005857.4:c.121C>T	NP_005848.2:p.Gln41Ter	NC_000001.10:g.40724064C>T	OMIM Allelic Variant:606480.0004	C1837756 608612 Mandibuloacral dysplasia with type B lipodystrophy; CN221809 not provided
NM_005857.4(ZMPSTE24):c.743C>T (p.Pro248Leu)	10269	ZMPSTE24	Pathogenic	121908095	RCV000004496; RCV000128756;	N	MedGen:C1837756,OMIM:608612,ORPHA:90154; MedGen:CN221809	1	40737681	40737681	NM_005857.4:c.743C>T	NP_005848.2:p.Pro248Leu	NC_000001.10:g.40737681C>T	OMIM Allelic Variant:606480.0005	C1837756 608612 Mandibuloacral dysplasia with type B lipodystrophy; CN221809 not provided
NM_005857.4(ZMPSTE24):c.1018T>C (p.Trp340Arg)	10269	ZMPSTE24	Pathogenic	121908093	RCV000004493; RCV000128719;	N	MedGen:C1837756,OMIM:608612,ORPHA:90154; MedGen:CN221809	1	40751660	40751660	NM_005857.4:c.1018T>C	NP_005848.2:p.Trp340Arg	NC_000001.10:g.40751660T>C	OMIM Allelic Variant:606480.0002	C1837756 608612 Mandibuloacral dysplasia with type B lipodystrophy; CN221809 not provided
NM_005857.4(ZMPSTE24):c.1085dupT (p.Leu362Phefs)	10269	ZMPSTE24	Pathogenic	137854889	RCV000004492; RCV000023547; RCV000128723;	N	MedGen:C0406585,OMIM:275210,ORPHA:1662,SNOMED CT:400128006; MedGen:C1837756,OMIM:608612,ORPHA:90154; MedGen:CN221809	1	40756551	40756551	NM_005857.4:c.1085dupT	NP_005848.2:p.Leu362Phefs	NC_000001.10:g.40756551dupT	OMIM Allelic Variant:606480.0001	C0406585 275210 Lethal tight skin contracture syndrome; C1837756 608612 Mandibuloacral dysplasia with type B lipodystrophy; CN221809 not provided
NM_005857.4(ZMPSTE24):c.1263dupT (p.Ala422Cysfs)	10269	ZMPSTE24	Pathogenic	281875375	RCV000173817; RCV000173816; RCV000128730;	N	MedGen:C0406585,OMIM:275210,ORPHA:1662,SNOMED CT:400128006; MedGen:C1837756,OMIM:608612,ORPHA:90154; MedGen:CN221809	1	40758176	40758176	NM_005857.4:c.1263dupT	NP_005848.2:p.Ala422Cysfs	NC_000001.10:g.40758176dupT	-	C0406585 275210 Lethal tight skin contracture syndrome; C1837756 608612 Mandibuloacral dysplasia with type B lipodystrophy; CN221809 not provided
NM_005857.4(ZMPSTE24):c.1349G>A (p.Trp450Ter)	10269	ZMPSTE24	Pathogenic	281875376	RCV000023550; RCV000128732;	N	MedGen:C1837756,OMIM:608612,ORPHA:90154; MedGen:CN221809	1	40758262	40758262	NM_005857.4:c.1349G>A	NP_005848.2:p.Trp450Ter	NC_000001.10:g.40758262G>A	OMIM Allelic Variant:606480.0009	C1837756 608612 Mandibuloacral dysplasia with type B lipodystrophy; CN221809 not provided