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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

Hearing Loss Disease Portal

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

Disease Browser
Parent Node: Dwarfism (D004392)
Parent Node: Muscle Hypotonia (D009123)
..Starting node ..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
Child Nodes:
Sister Nodes:
..Allan-Herndon-Dudley syndrome (C537047)
..Atonic-Astatic Syndrome of Foerster (C565926)
..Axenfeld-Rieger Anomaly with Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, and Skeletal Abnormalities (C566234)
..Birk-Barel Mental Retardation Dysmorphism Syndrome (C567357)
..Carnitine Acetyltransferase Deficiency (C563249)
..Cohen syndrome (C536438)
..Combined Oxidative Phosphorylation Deficiency 3 (C566467)
..Creases, Infra-Auricular Cutaneous, with Tall Stature and Advanced Bone Age (C566543)
..Der Kaloustian Mcintosh Silver syndrome (C538217)
..Emanuel syndrome (C535733)
..Ethanolaminosis (C562651)
..Fumaric aciduria (C538191)
..German Syndrome (C562543)
..Grubben de Cock Borghgraef syndrome (C537621)
..Hydronephrosis, Congenital, with Cleft Palate, Characteristic Facies, Hypotonia, and Mental Retardation (C565736)
..Hypotonia, congenital nystagmus, ataxia and abnormal auditory brainstem response (C537159)
..Hypotonia, Seizures, And Precocious Puberty (C567566)
..Hypotonia-Cystinuria Syndrome (C564710)
..Joubert Syndrome 10 (C567582)
..Joubert syndrome 3 (C536295)
..Joubert syndrome 5 (C537688)
..Ketoadipicaciduria (C565453)
..MENTAL RETARDATION, AUTOSOMAL DOMINANT 20 (OMIM:613443)
..Midface Hypoplasia, Obesity, Developmental Delay, and Neonatal Hypotonia (C563896)
..Miller-McKusick-Malvaux-Syndrome (3M Syndrome) (C535314)
..Opitz-Kaveggia syndrome (C537923)
..Qazi Markouizos syndrome (C536259)
..Radioulnar Synostosis, Unilateral, with Developmental Retardation and Hypotonia (C564856)
..Scalp ear nipple syndrome (C536623)
..Three M Syndrome 2 (C567862)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:

7292

Name:

Miller-McKusick-Malvaux-Syndrome (3M Syndrome)

Definition:

Alternative IDs:

OMIM:273750

ParentIDs:

MESH:D004392|MESH:D009123

TreeNumbers:

C05.116.099.343/C535314 |C10.597.613.575/C535314 |C16.320.240/C535314 |C19.297/C535314 |C23.888.592.608.575/C535314

Synonyms:

Slim Mappings:

Endocrine system disease|Genetic disease (inborn)|Musculoskeletal disease|Nervous system disease|Signs and symptoms

Reference:

MedGen: C535314
MeSH: C535314
OMIM: 273750;

Genes: CUL7;

Phenotypes

1	HP:0000007	Autosomal recessive inheritance
2	HP:0000463	Anteverted nares
3	HP:0004209	Clinodactyly of the 5th finger
4	HP:0008734	Decreased testicular size
5	HP:0002750	Delayed skeletal maturation
6	HP:0005280	Depressed nasal bridge
7	HP:0000268	Dolichocephaly
8	HP:0002007	Frontal bossing
9	HP:0002827	Hip dislocation
10	HP:0003307	Hyperlordosis
11	HP:0008839	Hypoplastic pelvis
12	HP:0000047	Hypospadias
13	HP:0004570	Increased vertebral height
14	HP:0001511	Intrauterine growth retardation
15	HP:0001382	Joint hypermobility
16	HP:0000343	Long philtrum
17	HP:0000272	Malar flattening
18	HP:0000303	Mandibular prognathia
19	HP:0002643	Neonatal respiratory distress
20	HP:0000767	Pectus excavatum
21	HP:0001763	Pes planus
22	HP:0000307	Pointed chin
23	HP:0008897	Postnatal growth retardation
24	HP:0003691	Scapular winging
25	HP:0009237	Short 5th finger
26	HP:0000470	Short neck
27	HP:0000773	Short ribs
28	HP:0004322	Short stature
29	HP:0010306	Short thorax
30	HP:0003100	Slender long bone
31	HP:0001518	Small for gestational age
32	HP:0003298	Spina bifida occulta
33	HP:0000574	Thick eyebrow
34	HP:0000179	Thick lower lip vermilion
35	HP:0000325	Triangular face

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_014780.4(CUL7):c.4717C>T (p.Arg1573Ter)	9820	CUL7	Pathogenic	749509661	RCV000176574; RCV000210557;	N	MedGen:C0950123; MedGen:C1848862,OMIM:273750	6	43006061	43006061	NM_014780.4:c.4717C>T	NP_055595.2:p.Arg1573Ter	NC_000006.11:g.43006061G>A	-	C0950123 Inborn genetic diseases; C1848862 273750 Three M syndrome 1
NM_014780.4(CUL7):c.4451_4452delTG (p.Val1484Glyfs)	9820	CUL7	Pathogenic	730880261	RCV000001682;	N	MedGen:C1848862,OMIM:273750	6	43006419	43006420	NM_014780.4:c.4451_4452delTG	NP_055595.2:p.Val1484Glyfs	NC_000006.11:g.43006419_43006420delCA	OMIM Allelic Variant:609577.0003,OMIM Allelic Variant:609577.0005	C1848862 273750 Three M syndrome 1
NM_014780.4(CUL7):c.4391A>C (p.His1464Pro)	9820	CUL7	Pathogenic	121918229	RCV000001681;	N	MedGen:C1848862,OMIM:273750	6	43006629	43006629	NM_014780.4:c.4391A>C	NP_055595.2:p.His1464Pro	NC_000006.11:g.43006629T>G	OMIM Allelic Variant:609577.0002	C1848862 273750 Three M syndrome 1
NM_014780.4(CUL7):c.4333C>T (p.Arg1445Ter)	9820	CUL7	Pathogenic	121918228	RCV000001680;	N	MedGen:C1848862,OMIM:273750	6	43006687	43006687	NM_014780.4:c.4333C>T	NP_055595.2:p.Arg1445Ter	NC_000006.11:g.43006687G>A	OMIM Allelic Variant:609577.0001	C1848862 273750 Three M syndrome 1
NM_014780.4(CUL7):c.3379_3380delTG (p.Trp1127Glufs)	9820	CUL7	Pathogenic	730880262	RCV000001685;	N	MedGen:C1848862,OMIM:273750	6	43010894	43010895	NM_014780.4:c.3379_3380delTG	NP_055595.2:p.Trp1127Glufs	NC_000006.11:g.43010894_43010895delCA	OMIM Allelic Variant:609577.0006	C1848862 273750 Three M syndrome 1
NM_014780.4(CUL7):c.3173-1G>C	9820	CUL7	Pathogenic	864309521	RCV000202615;	N	MedGen:C1848862,OMIM:273750	6	43011369	43011369	NM_014780.4:c.3173-1G>C		NC_000006.11:g.43011369C>G	-	C1848862 273750 Three M syndrome 1
NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg)	9820	CUL7	Likely pathogenic;Pathogenic	61752334	RCV000175080; RCV000210570;	N	MedGen:C0950123; MedGen:C1848862,OMIM:273750	6	43012621	43012621	NM_014780.4:c.3041T>G	NP_055595.2:p.Leu1014Arg	NC_000006.11:g.43012621A>C	-	C0950123 Inborn genetic diseases; C1848862 273750 Three M syndrome 1
NM_001168370.1(CUL7):c.2844T>G (p.Tyr948Ter)	9820	CUL7	Likely pathogenic;Pathogenic	201406974	RCV000115042; RCV000171523;	N	MedGen:C1848862,OMIM:273750; MedGen:CN221809	6	43014042	43014042	NM_001168370.1:c.2844T>G	NP_001161842.1:p.Tyr948Ter	NC_000006.11:g.43014042A>C	VariO:0043	CN221809 not provided; C1848862 273750 Three M syndrome 1
NM_014780.4(CUL7):c.1570-3C>A	9820	CUL7	Pathogenic	730880263	RCV000001686;	N	MedGen:C1848862,OMIM:273750	6	43017403	43017403	NM_014780.4:c.1570-3C>A		NC_000006.11:g.43017403G>T	OMIM Allelic Variant:609577.0007	C1848862 273750 Three M syndrome 1
NM_014780.4(CUL7):c.898_919del22 (p.Met300Trpfs)	9820	CUL7	Pathogenic	794727644	RCV000178294;	N	MedGen:C1848862,OMIM:273750	6	43019020	43019041	NM_014780.4:c.898_919del22	NP_055595.2:p.Met300Trpfs	NC_000006.11:g.43019020_43019041delGCTCCGAGATCAGGGTGCCCAT	-	C1848862 273750 Three M syndrome 1