3M1
MCID: THR117
MIFTS: 51

Three M Syndrome 1 (3M1)

Categories: Bone diseases, Genetic diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Three M Syndrome 1

MalaCards integrated aliases for Three M Syndrome 1:

Name: Three M Syndrome 1 58 76 30 6 74
Three M Syndrome 12 25 54 26 76 30 6
3-M Syndrome 12 77 25 54 26 15
Yakut Short Stature Syndrome 12 54 26 76 6
Dolichospondylic Dysplasia 58 12 54 26 76
Gloomy Face Syndrome 58 12 77 54 76
Le Merrer Syndrome 58 12 54 26 76
3m Syndrome 58 25 54 38
3m1 58 54 76
Miller-Mckusick-Malvaux Syndrome 12 76
Miller-Mckusick-Malvaux-Syndrome 45 74
Three-M Slender-Boned Nanism 54 26
Dwarfism Tall Vertebrae 45 74
3-M Syndrome 1 58 13
Dwarfism 45 74
3-Msbn 54 26
Three M Syndrome, Type 1 41
3m Syndrome 1 76
3m Syndrome-1 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
three m syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Three M Syndrome 1

NIH Rare Diseases : 54 3M syndrome is a growth disorder that causes short stature, characteristic facial features, and skeletal abnormalities. Intelligence is normal. The name comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux. 3M syndrome is caused by mutations in one of three genes: CUL7, OBSL1, and CCDC8. It is inherited in an autosomal recessive pattern. Diagnosis is based on the presence of clinical features. Genetic testing can confirm the diagnosis and identify the specific gene involved. Treatment is aimed at addressing the growth and skeletal problems and may include surgical bone lengthening, adaptive aids, and physical therapy. An endocrinologist may assist with growth hormone replacement and appropriate evaluations during puberty. 

MalaCards based summary : Three M Syndrome 1, also known as three m syndrome, is related to dubowitz syndrome and microcephalic osteodysplastic primordial dwarfism, type ii, and has symptoms including back pain, sciatica and muscle cramp. An important gene associated with Three M Syndrome 1 is CUL7 (Cullin 7), and among its related pathways/superpathways is Ubiquitin mediated proteolysis. The drugs Vaccines and Immunologic Factors have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and prostate, and related phenotypes are short neck and frontal bossing

Disease Ontology : 12 An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities.

Genetics Home Reference : 26 3-M syndrome is a disorder that causes skeletal abnormalities including short stature (dwarfism) and unusual facial features. The name of this condition comes from the initials of three researchers who first identified it: Miller, McKusick, and Malvaux.

OMIM : 58 3M syndrome is an autosomal recessive disorder characterized by distinctive facial features, severe prenatal and postnatal growth retardation, and normal mental development. The main skeletal anomalies are long, slender tubular bones, reduced anteroposterior diameter of the vertebral bodies, and delayed bone age. Other skeletal manifestations include joint hypermobility, joint dislocation, winged scapulae, and pes planus (summary by Badina et al., 2011). (273750)

UniProtKB/Swiss-Prot : 76 3M syndrome 1: An autosomal recessive disorder characterized by severe pre- and postnatal growth retardation, facial dysmorphism, large head circumference, and normal intelligence and endocrine function. Skeletal changes include long slender tubular bones and tall vertebral bodies.

Wikipedia : 77 3-M syndrome is a rare hereditary disorder characterized by severe growth retardation, facial... more...

GeneReviews: NBK1481

Related Diseases for Three M Syndrome 1

Diseases in the Three M Syndrome 1 family:

Three M Syndrome 2 Three M Syndrome 3

Diseases related to Three M Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 421)
# Related Disease Score Top Affiliating Genes
1 dubowitz syndrome 31.5 CUL7 OBSL1
2 microcephalic osteodysplastic primordial dwarfism, type ii 12.5
3 microcephalic osteodysplastic primordial dwarfism, type i 12.5
4 parastremmatic dwarfism 12.5
5 lenz-majewski hyperostotic dwarfism 12.4
6 keratosis follicularis, dwarfism, and cerebral atrophy 12.3
7 microcephalic primordial dwarfism, montreal type 12.3
8 alopecia-contractures-dwarfism mental retardation syndrome 12.3
9 ichthyosis, mental retardation, dwarfism, and renal impairment 12.3
10 microcephalic primordial dwarfism, toriello type 12.3
11 alopecia-contractures-dwarfism-intellectual disability syndrome 12.3
12 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.2
13 microcephalic osteodysplastic primordial dwarfism, type iii 12.1
14 isolated growth hormone deficiency, type ia 12.1
15 mesomelic dwarfism cleft palate camptodactyly 12.1
16 trichomegaly with intellectual disability, dwarfism and pigmentary degeneration of retina 12.1
17 dwarfism, familial, with muscle spasms 12.1
18 tryptophanuria with dwarfism 12.0
19 osteoglophonic dysplasia 12.0
20 geleophysic dwarfism 12.0
21 dwarfism, levi type 12.0
22 megaepiphyseal dwarfism 12.0
23 seckel syndrome 12.0
24 metatropic dysplasia 12.0
25 thanatophoric dysplasia, type i 12.0
26 achondroplasia 12.0
27 seckel syndrome 1 11.9
28 dwarfism with stiff joints and ocular abnormalities 11.9
29 mesomelic dwarfism of hypoplastic tibia and radius type 11.9
30 synovial chondromatosis, familial, with dwarfism 11.9
31 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 11.9
32 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 11.9
33 dwarfism, proportionate, with hip dislocation 11.9
34 pituitary dwarfism with large sella turcica 11.9
35 brachydactylous dwarfism mseleni type 11.9
36 diastrophic dysplasia 11.9
37 thanatophoric dysplasia, type ii 11.9
38 dwarfism with tall vertebrae 11.9
39 dwarfism, mental retardation, and eye abnormality 11.9
40 syndesmodysplasic dwarfism 11.9
41 dwarfism bluish sclerae 11.9
42 dwarfism deafness retinitis pigmentosa 11.9
43 dwarfism lethal type advanced bone age 11.9
44 dwarfism thin bones multiple fractures 11.9
45 enchondromatosis dwarfism deafness 11.9
46 genital dwarfism 11.9
47 genital dwarfism, turner type 11.9
48 microcephalic primordial dwarfism-insulin resistance syndrome 11.9
49 seckel syndrome 2 11.9
50 robinow syndrome 11.8

Graphical network of the top 20 diseases related to Three M Syndrome 1:



Diseases related to Three M Syndrome 1

Symptoms & Phenotypes for Three M Syndrome 1

Human phenotypes related to Three M Syndrome 1:

33 (show top 50) (show all 57)
# Description HPO Frequency HPO Source Accession
1 short neck 33 hallmark (90%) HP:0000470
2 frontal bossing 33 hallmark (90%) HP:0002007
3 delayed skeletal maturation 33 hallmark (90%) HP:0002750
4 anteverted nares 33 hallmark (90%) HP:0000463
5 thick eyebrow 33 hallmark (90%) HP:0000574
6 short stature 33 hallmark (90%) HP:0004322
7 abnormality of the metaphysis 33 hallmark (90%) HP:0000944
8 everted lower lip vermilion 33 hallmark (90%) HP:0000232
9 intrauterine growth retardation 33 hallmark (90%) HP:0001511
10 scapular winging 33 hallmark (90%) HP:0003691
11 broad forehead 33 hallmark (90%) HP:0000337
12 bulbous nose 33 hallmark (90%) HP:0000414
13 midface retrusion 33 hallmark (90%) HP:0011800
14 hypoplastic pelvis 33 hallmark (90%) HP:0008839
15 triangular face 33 hallmark (90%) HP:0000325
16 rocker bottom foot 33 hallmark (90%) HP:0001838
17 hypoplastic pubic bone 33 hallmark (90%) HP:0003173
18 hypoplastic ischia 33 hallmark (90%) HP:0003175
19 slender long bone 33 hallmark (90%) HP:0003100
20 increased vertebral height 33 hallmark (90%) HP:0004570
21 hyperlordosis 33 frequent (33%) HP:0003307
22 long philtrum 33 frequent (33%) HP:0000343
23 delayed eruption of teeth 33 frequent (33%) HP:0000684
24 micromelia 33 frequent (33%) HP:0002983
25 joint hyperflexibility 33 frequent (33%) HP:0005692
26 dolichocephaly 33 frequent (33%) HP:0000268
27 short thorax 33 frequent (33%) HP:0010306
28 enlarged thorax 33 frequent (33%) HP:0100625
29 protruding ear 33 frequent (33%) HP:0000411
30 thin ribs 33 frequent (33%) HP:0000883
31 abnormality of dental enamel 33 frequent (33%) HP:0000682
32 pointed chin 33 frequent (33%) HP:0000307
33 abnormality of the elbow 33 frequent (33%) HP:0009811
34 hypoplasia of the ulna 33 frequent (33%) HP:0003022
35 horizontal ribs 33 frequent (33%) HP:0000888
36 scoliosis 33 occasional (7.5%) HP:0002650
37 kyphosis 33 occasional (7.5%) HP:0002808
38 congenital hip dislocation 33 occasional (7.5%) HP:0001374
39 hypospadias 33 occasional (7.5%) HP:0000047
40 clinodactyly of the 5th finger 33 occasional (7.5%) HP:0004209
41 abnormality of the cerebral vasculature 33 occasional (7.5%) HP:0100659
42 decreased fertility 33 occasional (7.5%) HP:0000144
43 malar flattening 33 HP:0000272
44 pectus excavatum 33 HP:0000767
45 mandibular prognathia 33 HP:0000303
46 depressed nasal bridge 33 HP:0005280
47 pes planus 33 HP:0001763
48 thick lower lip vermilion 33 HP:0000179
49 postnatal growth retardation 33 HP:0008897
50 neonatal respiratory distress 33 HP:0002643

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Neck:
short neck

Skeletal:
joint dislocation
joint hypermobility
delayed bone age

Skeletal Hands:
clinodactyly
short fifth fingers

Skeletal Feet:
pes planus
prominent heels

Growth Height:
short stature

Skeletal Skull:
dolichocephaly

Respiratory:
neonatal respiratory distress

Genitourinary External Genitalia Male:
hypospadias
small testes

Growth Weight:
low birth weight

Chest Ribs Sternum Clavicles And Scapulae:
winged scapulae
high, square shoulders
rib hypoplasia

Skin Nails Hair Hair:
full eyebrows

Skeletal Limbs:
long, slender tubular bones

Chest External Features:
pectus excavatum
short, wide, flat thorax

Head And Neck Head:
frontal bossing
increased relative head circumference

Skeletal Spine:
hyperlordosis
tall vertebral bodies

Head And Neck Nose:
anteverted nares
low nasal bridge
depressed nasal root
fleshy, upturned nose

Head And Neck Face:
long philtrum
triangular face
hypoplastic midface
pointed, prominent chin

Growth Other:
intrauterine growth retardation
postnatal growth retardation

Skeletal Pelvis:
hip dislocation
small pelvis

Neurologic Central Nervous System:
spina bifida occulta
normal intelligence

Head And Neck Mouth:
full lips

Head And Neck Eyes:
full eyebrows

Abdomen External Features:
enlarged abdomen

Endocrine Features:
decreased male fertility

Clinical features from OMIM:

273750

UMLS symptoms related to Three M Syndrome 1:


back pain, sciatica, muscle cramp

Drugs & Therapeutics for Three M Syndrome 1

Drugs for Three M Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines Phase 1, Phase 2
2 Immunologic Factors Phase 1, Phase 2
3 Keyhole-limpet hemocyanin Phase 1, Phase 2

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Dendritic Cell Vaccine Study (DC/PC3) for Prostate Cancer Completed NCT00345293 Phase 1, Phase 2

Search NIH Clinical Center for Three M Syndrome 1

Inferred drug relations via UMLS 74 / NDF-RT 52 :


Cochrane evidence based reviews: dwarfism

Genetic Tests for Three M Syndrome 1

Genetic tests related to Three M Syndrome 1:

# Genetic test Affiliating Genes
1 Three M Syndrome 30
2 Three M Syndrome 1 30 CUL7

Anatomical Context for Three M Syndrome 1

MalaCards organs/tissues related to Three M Syndrome 1:

42
Bone, Testes, Prostate

Publications for Three M Syndrome 1

Articles related to Three M Syndrome 1:

(show all 36)
# Title Authors Year
1
3-M Syndrome: A Local Case Report. ( 30622233 )
2019
2
Two Siblings with a Mutation in CCDC8 Presenting with Mild Short Stature: A Case of 3-M Syndrome. ( 28675896 )
2017
3
Prenatal and early diagnosis of Chinese 3-M syndrome patients with novel pathogenic variants. ( 28969986 )
2017
4
Pre- and post-natal growth in two sisters with 3-M syndrome. ( 26850509 )
2016
5
Changes in facial appearance from neonate to adult in 3-M syndrome patient with novel CUL7 gene mutations. ( 26488604 )
2016
6
2D and 3D Ultrasonographic Evaluation of Fetal Midface Hypoplasia in Two Cases with 3-M Syndrome. ( 27453585 )
2016
7
Whole-exome analysis of foetal autopsy tissue reveals a frameshift mutation in OBSL1, consistent with a diagnosis of 3-M Syndrome. ( 25923536 )
2015
8
3-M syndrome: a novel CUL7 mutation associated with respiratory distress and a good response to GH therapy. ( 25945256 )
2015
9
An adult with 3-M syndrome. ( 26187869 )
2015
10
Clinical Utility Gene Card for: 3-M syndrome - Update 2013. ( 23900270 )
2013
11
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. ( 23457316 )
2013
12
3-M syndrome: a growth disorder associated with IGF2 silencing. ( 24148222 )
2013
13
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. ( 23517720 )
2013
14
Exploring the spectrum of 3-M syndrome, a primordial short stature disorder of disrupted ubiquitination. ( 22624670 )
2012
15
Mutations in CUL7, OBSL1 and CCDC8 in 3-M syndrome lead to disordered growth factor signalling. ( 23018678 )
2012
16
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? ( 21548126 )
2011
17
The genetics of 3-M syndrome: unravelling a potential new regulatory growth pathway. ( 22156540 )
2011
18
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, Suggesting that CCDC8 Contributes in a Pathway with CUL7 and OBSL1 to Control Human Growth. ( 21737058 )
2011
19
Hip dislocation in 3-M syndrome: risk of misdiagnosis. ( 21383554 )
2011
20
OBSL1 mutations in 3-M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels. ( 19877176 )
2010
21
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. ( 19481195 )
2009
22
3-M syndrome: a report of three Egyptian cases with review of the literature. ( 16531729 )
2006
23
Identification of mutations in CUL7 in 3-M syndrome. ( 16142236 )
2005
24
3-M syndrome in two sisters. ( 12174011 )
2002
25
3-M syndrome: description of six new patients with review of the literature. ( 11665997 )
2001
26
3-M syndrome: a prenatal ultrasonographic diagnosis. ( 11113897 )
2000
27
3-M syndrome and intracerebral aneurysms. ( 7853382 )
1994
28
3-M Syndrome ( 20301654 )
1993
29
The 3-M syndrome: risk of intracerebral aneurysm? ( 1619640 )
1992
30
Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome. ( 2051454 )
1991
31
3-M syndrome. ( 2929663 )
1989
32
The 3-M syndrome. A heritable low birthweight dwarfism. ( 3692880 )
1987
33
Further delineation of the 3-M syndrome with review of the literature. ( 3314510 )
1987
34
The 3-M syndrome. ( 6716411 )
1984
35
A new familial intrauterine growth retardation syndrome the "3-M syndrome". ( 976277 )
1976
36
The 3-M syndrome: a heritable low birthweight dwarfism. ( 1218233 )
1975

Variations for Three M Syndrome 1

UniProtKB/Swiss-Prot genetic disease variations for Three M Syndrome 1:

76
# Symbol AA change Variation ID SNP ID
1 CUL7 p.Gln1246Gly VAR_026123
2 CUL7 p.His1464Pro VAR_026124 rs121918229
3 CUL7 p.Leu1588Pro VAR_071120 rs759300846

ClinVar genetic disease variations for Three M Syndrome 1:

6 (show top 50) (show all 378)
# Gene Variation Type Significance SNP ID Assembly Location
1 OBSL1 NM_015311.2(OBSL1): c.921T> C (p.Leu307=) single nucleotide variant Benign rs10180675 GRCh37 Chromosome 2, 220435034: 220435034
2 OBSL1 NM_015311.2(OBSL1): c.921T> C (p.Leu307=) single nucleotide variant Benign rs10180675 GRCh38 Chromosome 2, 219570312: 219570312
3 OBSL1 NM_015311.2(OBSL1): c.600G> A (p.Arg200=) single nucleotide variant Conflicting interpretations of pathogenicity rs373739744 GRCh37 Chromosome 2, 220435355: 220435355
4 OBSL1 NM_015311.2(OBSL1): c.600G> A (p.Arg200=) single nucleotide variant Conflicting interpretations of pathogenicity rs373739744 GRCh38 Chromosome 2, 219570633: 219570633
5 OBSL1 NM_015311.2(OBSL1): c.3649G> A (p.Glu1217Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs72957510 GRCh37 Chromosome 2, 220422686: 220422686
6 OBSL1 NM_015311.2(OBSL1): c.3649G> A (p.Glu1217Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs72957510 GRCh38 Chromosome 2, 219557964: 219557964
7 CUL7 NM_014780.4(CUL7): c.2563A> G (p.Lys855Glu) single nucleotide variant Uncertain significance rs140218677 GRCh37 Chromosome 6, 43014071: 43014071
8 CUL7 NM_014780.4(CUL7): c.2563A> G (p.Lys855Glu) single nucleotide variant Uncertain significance rs140218677 GRCh38 Chromosome 6, 43046333: 43046333
9 CUL7 NM_014780.4(CUL7): c.3041T> G (p.Leu1014Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61752334 GRCh37 Chromosome 6, 43012621: 43012621
10 CUL7 NM_014780.4(CUL7): c.3041T> G (p.Leu1014Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs61752334 GRCh38 Chromosome 6, 43044883: 43044883
11 CUL7 NM_014780.4(CUL7): c.3490C> T (p.Arg1164Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201135654 GRCh37 Chromosome 6, 43010695: 43010695
12 CUL7 NM_014780.4(CUL7): c.3490C> T (p.Arg1164Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201135654 GRCh38 Chromosome 6, 43042957: 43042957
13 OBSL1 NM_015311.2(OBSL1): c.5309-4C> G single nucleotide variant Benign rs34490902 GRCh37 Chromosome 2, 220416942: 220416942
14 OBSL1 NM_015311.2(OBSL1): c.5309-4C> G single nucleotide variant Benign rs34490902 GRCh38 Chromosome 2, 219552220: 219552220
15 CUL7 NM_014780.4(CUL7): c.465A> T (p.Gly155=) single nucleotide variant Conflicting interpretations of pathogenicity rs150212051 GRCh37 Chromosome 6, 43020062: 43020062
16 CUL7 NM_014780.4(CUL7): c.465A> T (p.Gly155=) single nucleotide variant Conflicting interpretations of pathogenicity rs150212051 GRCh38 Chromosome 6, 43052324: 43052324
17 CUL7 NM_014780.4(CUL7): c.533G> T (p.Arg178Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183865568 GRCh37 Chromosome 6, 43019994: 43019994
18 CUL7 NM_014780.4(CUL7): c.533G> T (p.Arg178Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183865568 GRCh38 Chromosome 6, 43052256: 43052256
19 CUL7 NM_014780.4(CUL7): c.4762C> A (p.Leu1588Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147493246 GRCh37 Chromosome 6, 43006016: 43006016
20 CUL7 NM_014780.4(CUL7): c.4762C> A (p.Leu1588Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147493246 GRCh38 Chromosome 6, 43038278: 43038278
21 CUL7 NM_014780.4(CUL7): c.1030G> A (p.Ala344Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs183119565 GRCh37 Chromosome 6, 43018909: 43018909
22 CUL7 NM_014780.4(CUL7): c.1030G> A (p.Ala344Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs183119565 GRCh38 Chromosome 6, 43051171: 43051171
23 CUL7 NM_014780.4(CUL7): c.1542G> T (p.Gln514His) single nucleotide variant Conflicting interpretations of pathogenicity rs146808129 GRCh37 Chromosome 6, 43017728: 43017728
24 CUL7 NM_014780.4(CUL7): c.1542G> T (p.Gln514His) single nucleotide variant Conflicting interpretations of pathogenicity rs146808129 GRCh38 Chromosome 6, 43049990: 43049990
25 OBSL1 NM_015311.2(OBSL1): c.2238G> A (p.Pro746=) single nucleotide variant Conflicting interpretations of pathogenicity rs142650279 GRCh37 Chromosome 2, 220430133: 220430133
26 OBSL1 NM_015311.2(OBSL1): c.2238G> A (p.Pro746=) single nucleotide variant Conflicting interpretations of pathogenicity rs142650279 GRCh38 Chromosome 2, 219565411: 219565411
27 CUL7 NM_014780.4(CUL7): c.3173-1G> C single nucleotide variant Pathogenic rs864309521 GRCh38 Chromosome 6, 43043631: 43043631
28 CUL7 NM_014780.4(CUL7): c.3173-1G> C single nucleotide variant Pathogenic rs864309521 GRCh37 Chromosome 6, 43011369: 43011369
29 CUL7 NM_014780.4(CUL7): c.4333C> T (p.Arg1445Ter) single nucleotide variant Pathogenic rs121918228 GRCh37 Chromosome 6, 43006687: 43006687
30 CUL7 NM_014780.4(CUL7): c.4333C> T (p.Arg1445Ter) single nucleotide variant Pathogenic rs121918228 GRCh38 Chromosome 6, 43038949: 43038949
31 CUL7 NM_014780.4(CUL7): c.4391A> C (p.His1464Pro) single nucleotide variant Pathogenic rs121918229 GRCh37 Chromosome 6, 43006629: 43006629
32 CUL7 NM_014780.4(CUL7): c.4391A> C (p.His1464Pro) single nucleotide variant Pathogenic rs121918229 GRCh38 Chromosome 6, 43038891: 43038891
33 CUL7 NM_014780.4(CUL7): c.4451_4452delTG (p.Val1484Glyfs) deletion Pathogenic rs730880261 GRCh37 Chromosome 6, 43006419: 43006420
34 CUL7 NM_014780.4(CUL7): c.4451_4452delTG (p.Val1484Glyfs) deletion Pathogenic rs730880261 GRCh38 Chromosome 6, 43038681: 43038682
35 CUL7 NM_014780.4(CUL7): c.4581_4582insT (p.Arg1528Serfs) insertion Pathogenic rs730880301 GRCh37 Chromosome 6, 43006197: 43006197
36 CUL7 NM_014780.4(CUL7): c.4581_4582insT (p.Arg1528Serfs) insertion Pathogenic rs730880301 GRCh38 Chromosome 6, 43038459: 43038459
37 CUL7 NM_014780.4(CUL7): c.3379_3380delTG (p.Trp1127Glufs) deletion Pathogenic rs730880262 GRCh37 Chromosome 6, 43010894: 43010895
38 CUL7 NM_014780.4(CUL7): c.3379_3380delTG (p.Trp1127Glufs) deletion Pathogenic rs730880262 GRCh38 Chromosome 6, 43043156: 43043157
39 CUL7 NM_014780.4(CUL7): c.1570-3C> A single nucleotide variant Pathogenic rs730880263 GRCh38 Chromosome 6, 43049665: 43049665
40 CUL7 NM_014780.4(CUL7): c.1570-3C> A single nucleotide variant Pathogenic rs730880263 GRCh37 Chromosome 6, 43017403: 43017403
41 CUL7 NM_001168370.1(CUL7): c.2844T> G (p.Tyr948Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201406974 GRCh37 Chromosome 6, 43014042: 43014042
42 CUL7 NM_001168370.1(CUL7): c.2844T> G (p.Tyr948Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201406974 GRCh38 Chromosome 6, 43046304: 43046304
43 OBSL1 NM_015311.2(OBSL1): c.4192G> A (p.Val1398Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147543583 GRCh37 Chromosome 2, 220421320: 220421320
44 OBSL1 NM_015311.2(OBSL1): c.4192G> A (p.Val1398Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147543583 GRCh38 Chromosome 2, 219556598: 219556598
45 CUL7 NM_014780.4(CUL7): c.3993G> A (p.Leu1331=) single nucleotide variant Benign rs2273917 GRCh37 Chromosome 6, 43008298: 43008298
46 CUL7 NM_014780.4(CUL7): c.3993G> A (p.Leu1331=) single nucleotide variant Benign rs2273917 GRCh38 Chromosome 6, 43040560: 43040560
47 CUL7 NM_014780.4(CUL7): c.3876C> T (p.Ile1292=) single nucleotide variant Conflicting interpretations of pathogenicity rs147056081 GRCh37 Chromosome 6, 43008415: 43008415
48 CUL7 NM_014780.4(CUL7): c.3876C> T (p.Ile1292=) single nucleotide variant Conflicting interpretations of pathogenicity rs147056081 GRCh38 Chromosome 6, 43040677: 43040677
49 CUL7 NM_014780.4(CUL7): c.3432G> A (p.Thr1144=) single nucleotide variant Conflicting interpretations of pathogenicity rs144556973 GRCh37 Chromosome 6, 43010842: 43010842
50 CUL7 NM_014780.4(CUL7): c.3432G> A (p.Thr1144=) single nucleotide variant Conflicting interpretations of pathogenicity rs144556973 GRCh38 Chromosome 6, 43043104: 43043104

Expression for Three M Syndrome 1

Search GEO for disease gene expression data for Three M Syndrome 1.

Pathways for Three M Syndrome 1

Pathways related to Three M Syndrome 1 according to KEGG:

38
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120

GO Terms for Three M Syndrome 1

Cellular components related to Three M Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 centrosome GO:0005813 9.33 CCDC8 CUL7 OBSL1
2 microtubule organizing center GO:0005815 9.13 CCDC8 CUL7 OBSL1
3 3M complex GO:1990393 8.8 CCDC8 CUL7 OBSL1

Biological processes related to Three M Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.43 CCDC8 CUL7 OBSL1
2 Golgi organization GO:0007030 9.32 CUL7 OBSL1
3 positive regulation of dendrite morphogenesis GO:0050775 9.16 CUL7 OBSL1
4 microtubule cytoskeleton organization GO:0000226 9.13 CCDC8 CUL7 OBSL1
5 regulation of mitotic nuclear division GO:0007088 8.8 CCDC8 CUL7 OBSL1

Sources for Three M Syndrome 1

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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