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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: Acro-Osteolysis (D030981)
Parent Node: Lipodystrophy (D008060)
..Starting node ..Mandibuloacral dysplasia with type A lipodystrophy (C535705)
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:

6763

Name:

Mandibuloacral dysplasia with type A lipodystrophy

Definition:

Alternative IDs:

OMIM:248370

ParentIDs:

MESH:D008060|MESH:D030981

TreeNumbers:

C05.116.099.052/C535705 |C05.116.264.579.052/C535705 |C17.800.849.391/C535705 |C18.452.584.625/C535705 |C18.452.880.391/C535705

Synonyms:

Craniomandibular Dermatodysostosis |CRANIOMANDIBULAR DERMATODYSOSTOSIS MANDIBULOACRAL DYSPLASIA WITH TYPE A LIPODYSTROPHY, ATYPICAL, INCLUDED |Lipodystrophy, type A, associated with mandibuloacral dysplasia |MADA |Mandibuloacral Dysplasia with Type A Lipodys

Slim Mappings:

Metabolic disease|Musculoskeletal disease|Skin disease

Reference:

MedGen: C535705
MeSH: C535705
OMIM: 248370;

Genes: LMNA;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0003621	Juvenile onset
3	HP:0001870	Acroosteolysis of distal phalanges (feet)
4	HP:0001596	Alopecia
5	HP:0000320	Bird-like facies
6	HP:0003761	Calcinosis
7	HP:0000270	Delayed cranial suture closure
8	HP:0000678	Dental crowding
9	HP:0004334	Dermal atrophy
10	HP:0001371	Flexion contracture
11	HP:0000293	Full cheeks
12	HP:0001425	Heterogeneous
13	HP:0000218	High palate
14	HP:0003074	Hyperglycemia
15	HP:0000842	Hyperinsulinemia
16	HP:0003077	Hyperlipidemia
17	HP:0000685	Hypoplasia of teeth
18	HP:0000468	Increased adipose tissue around the neck
19	HP:0000287	Increased facial adipose tissue
20	HP:0000831	Insulin-resistant diabetes mellitus
21	HP:0001387	Joint stiffness
22	HP:0009125	Lipodystrophy
23	HP:0003635	Loss of subcutaneous adipose tissue in limbs
24	HP:0000347	Micrognathia
25	HP:0001070	Mottled pigmentation
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:0008897	Postnatal growth retardation
30	HP:0006480	Premature loss of teeth
31	HP:0000905	Progressive clavicular acroosteolysis
32	HP:0000520	Proptosis
33	HP:0003758	Reduced subcutaneous adipose tissue
34	HP:0000894	Short clavicles
35	HP:0002209	Sparse scalp hair
36	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_170707.3(LMNA):c.1488+1G>A	4000	LMNA	Pathogenic	267607640	RCV000180284; RCV000057305;	N	MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809	1	156106820	156106820	NM_170707.3:c.1488+1G>A		NC_000001.10:g.156106820G>A	HGMD:CS094346	C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided
NM_170707.3(LMNA):c.1579C>T (p.Arg527Cys)	4000	LMNA	Pathogenic	57318642	RCV000015576; RCV000192011; RCV000057324; RCV000192240;	N	MedGen:C0007959, Orphanet:ORPHA166,SNOMED CT:50548001; MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809	1	156106994	156106994	NM_170707.3:c.1579C>T	NP_733821.1:p.Arg527Cys	NC_000001.10:g.156106994C>T	OMIM Allelic Variant:150330.0026	C0007959 Charcot-Marie-Tooth disease; C0033300 176670 Hutchinson-Gilford syndrome; C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided
NM_170707.3(LMNA):c.1580G>A (p.Arg527His)	4000	LMNA	Pathogenic;Uncertain significance	57520892	RCV000015591; RCV000015592; RCV000057326; RCV000148607;	N	MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN043412; MedGen:CN118835; MedGen:CN221809	1	156106995	156106995	NM_170707.3:c.1580G>A	NP_733821.1:p.Arg527His	NC_000001.10:g.156106995G>A,NC_000001.10:g.156106995G>C	OMIM Allelic Variant:150330.0021	C0432291 248370 Mandibuloacral dysostosis; CN118835 Mandibuloacral dysplasia; CN043412 Mandibuloacral dysplasia with type A lipodystrophy, atypical; CN221809 not provided
NM_170707.3(LMNA):c.1583C>A (p.Thr528Lys)	4000	LMNA	Likely pathogenic;Pathogenic	57629361	RCV000201062; RCV000180622; RCV000057328;	N	MedGen:C0410190,OMIM:181350,ORPHA:98853,SNOMED CT:240072005; MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809	1	156106998	156106998	NM_170707.3:c.1583C>A	NP_733821.1:p.Thr528Lys	NC_000001.10:g.156106998C>A,NC_000001.10:g.156106998C>G,NC_000001.10:g.156106998	HGMD:CM000741	C0410190 181350 Benign scapuloperoneal muscular dystrophy with cardiomyopathy; C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided
NM_170707.3(LMNA):c.1585G>A (p.Ala529Thr)	4000	LMNA	Pathogenic	121912494	RCV000015619; RCV000057331;	N	MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809	1	156107000	156107000	NM_170707.3:c.1585G>A	NP_733821.1:p.Ala529Thr	NC_000001.10:g.156107000G>A	OMIM Allelic Variant:150330.0046	C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided
NM_170707.3(LMNA):c.1586C>T (p.Ala529Val)	4000	LMNA	Pathogenic	60580541	RCV000015608; RCV000057332;	N	MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809	1	156107001	156107001	NM_170707.3:c.1586C>T	NP_733821.1:p.Ala529Val	NC_000001.10:g.156107001C>T	OMIM Allelic Variant:150330.0037	C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided
NM_170707.3(LMNA):c.1620G>A (p.Met540Ile)	4000	LMNA	Likely pathogenic	483352811	RCV000087081;	N	MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009	1	156107456	156107456	NM_170707.3:c.1620G>A	NP_733821.1:p.Met540Ile	NC_000001.10:g.156107456G>A	-	C0432291 248370 Mandibuloacral dysostosis
NM_170707.3(LMNA):c.1626G>C (p.Lys542Asn)	4000	LMNA	Pathogenic	56673169	RCV000015603; RCV000057346;	N	MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809	1	156107462	156107462	NM_170707.3:c.1626G>C	NP_733821.1:p.Lys542Asn	NC_000001.10:g.156107462G>C	OMIM Allelic Variant:150330.0033	C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided
NM_170707.3(LMNA):c.1824C>T (p.Gly608=)	4000	LMNA	Pathogenic	58596362	RCV000015594; RCV000174182; RCV000015593; RCV000057364; RCV000150957;	N	MedGen:C0033300,OMIM:176670,ORPHA:740,SNOMED CT:238870004; MedGen:C0406585,OMIM:275210,ORPHA:1662,SNOMED CT:400128006; MedGen:C0432291,OMIM:248370,ORPHA:2457,SNOMED CT:109419009; MedGen:CN221809; MedGen:CN236383, Orphanet:ORPHA98301	1	156108404	156108404	NM_170707.3:c.1824C>T	NP_733821.1:p.Gly608=	NC_000001.10:g.156108404C>T	HGMD:CS032429,OMIM Allelic Variant:150330.0022	C0033300 176670 Hutchinson-Gilford syndrome; CN236383 Laminopathy; C0406585 275210 Lethal tight skin contracture syndrome; C0432291 248370 Mandibuloacral dysostosis; CN221809 not provided