3M1
MCID: THR117
MIFTS: 52

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 57 75 29 6 73
Three M Syndrome 12 53 25 75 29 6
3-M Syndrome 12 76 24 53 25 15
Yakut Short Stature Syndrome 12 53 25 75 6
Dolichospondylic Dysplasia 57 12 53 25 75
Gloomy Face Syndrome 57 12 76 53 75
Le Merrer Syndrome 57 12 53 25 75
3m Syndrome 57 53 37
3m1 57 53 75
Miller-Mckusick-Malvaux Syndrome 12 75
Miller-Mckusick-Malvaux-Syndrome 44 73
Three-M Slender-Boned Nanism 53 25
Dwarfism Tall Vertebrae 44 73
3-M Syndrome 1 57 13
Dwarfism 44 73
3-Msbn 53 25
Three M Syndrome, Type 1 40
3m Syndrome 1 75
3m Syndrome-1 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive


HPO:

32
three m syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Three M Syndrome 1

NIH Rare Diseases : 53 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 Immunologic Factors and Vaccines have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and eye, and related phenotypes are malar flattening and short neck

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

Genetics Home Reference : 25 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 : 57 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 : 75 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 : 76 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 402)
# 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 12.4
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 12.2
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 laron syndrome 12.0
25 metatropic dysplasia 12.0
26 thanatophoric dysplasia, type i 11.9
27 achondroplasia 11.9
28 seckel syndrome 1 11.9
29 dwarfism with stiff joints and ocular abnormalities 11.9
30 mesomelic dwarfism of hypoplastic tibia and radius type 11.9
31 synovial chondromatosis, familial, with dwarfism 11.9
32 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 11.9
33 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 11.9
34 dwarfism, proportionate, with hip dislocation 11.9
35 pituitary dwarfism with large sella turcica 11.9
36 brachydactylous dwarfism mseleni type 11.9
37 diastrophic dysplasia 11.9
38 thanatophoric dysplasia, type ii 11.9
39 dwarfism with tall vertebrae 11.8
40 dwarfism, mental retardation, and eye abnormality 11.8
41 syndesmodysplasic dwarfism 11.8
42 dwarfism bluish sclerae 11.8
43 dwarfism deafness retinitis pigmentosa 11.8
44 dwarfism lethal type advanced bone age 11.8
45 dwarfism thin bones multiple fractures 11.8
46 enchondromatosis dwarfism deafness 11.8
47 genital dwarfism 11.8
48 genital dwarfism, turner type 11.8
49 microcephalic primordial dwarfism-insulin resistance syndrome 11.8
50 seckel syndrome 2 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

Symptoms via clinical synopsis from OMIM:

57
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

Skeletal Pelvis:
hip dislocation
small pelvis

Neurologic Central Nervous System:
spina bifida occulta
normal intelligence

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

Genitourinary External Genitalia Male:
hypospadias
small testes

Respiratory:
neonatal respiratory distress

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

Human phenotypes related to Three M Syndrome 1:

32 (show top 50) (show all 57)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 short neck 32 hallmark (90%) HP:0000470
3 pectus excavatum 32 HP:0000767
4 frontal bossing 32 hallmark (90%) HP:0002007
5 scoliosis 32 occasional (7.5%) HP:0002650
6 kyphosis 32 occasional (7.5%) HP:0002808
7 hyperlordosis 32 frequent (33%) HP:0003307
8 mandibular prognathia 32 HP:0000303
9 delayed skeletal maturation 32 hallmark (90%) HP:0002750
10 depressed nasal bridge 32 HP:0005280
11 pes planus 32 HP:0001763
12 anteverted nares 32 hallmark (90%) HP:0000463
13 thick eyebrow 32 hallmark (90%) HP:0000574
14 short stature 32 hallmark (90%) HP:0004322
15 long philtrum 32 frequent (33%) HP:0000343
16 thick lower lip vermilion 32 HP:0000179
17 abnormality of the metaphysis 32 hallmark (90%) HP:0000944
18 delayed eruption of teeth 32 frequent (33%) HP:0000684
19 micromelia 32 frequent (33%) HP:0002983
20 joint hyperflexibility 32 frequent (33%) HP:0005692
21 dolichocephaly 32 frequent (33%) HP:0000268
22 short thorax 32 frequent (33%) HP:0010306
23 everted lower lip vermilion 32 hallmark (90%) HP:0000232
24 enlarged thorax 32 frequent (33%) HP:0100625
25 intrauterine growth retardation 32 hallmark (90%) HP:0001511
26 postnatal growth retardation 32 HP:0008897
27 scapular winging 32 hallmark (90%) HP:0003691
28 protruding ear 32 frequent (33%) HP:0000411
29 congenital hip dislocation 32 occasional (7.5%) HP:0001374
30 hip dislocation 32 HP:0002827
31 broad forehead 32 hallmark (90%) HP:0000337
32 thin ribs 32 frequent (33%) HP:0000883
33 hypospadias 32 occasional (7.5%) HP:0000047
34 clinodactyly of the 5th finger 32 occasional (7.5%) HP:0004209
35 decreased testicular size 32 HP:0008734
36 abnormality of the cerebral vasculature 32 occasional (7.5%) HP:0100659
37 joint hypermobility 32 HP:0001382
38 decreased fertility 32 occasional (7.5%) HP:0000144
39 abnormality of dental enamel 32 frequent (33%) HP:0000682
40 bulbous nose 32 hallmark (90%) HP:0000414
41 pointed chin 32 frequent (33%) HP:0000307
42 spina bifida occulta 32 HP:0003298
43 abnormality of the elbow 32 frequent (33%) HP:0009811
44 midface retrusion 32 hallmark (90%) HP:0011800
45 hypoplastic pelvis 32 hallmark (90%) HP:0008839
46 triangular face 32 hallmark (90%) HP:0000325
47 hypoplasia of the ulna 32 frequent (33%) HP:0003022
48 rocker bottom foot 32 hallmark (90%) HP:0001838
49 hypoplastic pubic bone 32 hallmark (90%) HP:0003173
50 hypoplastic ischia 32 hallmark (90%) HP:0003175

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 Immunologic Factors Phase 1, Phase 2
2 Vaccines 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 73 / NDF-RT 51 :


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 29
2 Three M Syndrome 1 29 CUL7

Anatomical Context for Three M Syndrome 1

MalaCards organs/tissues related to Three M Syndrome 1:

41
Bone, Testes, Eye, Pituitary, Myeloid, Bone Marrow, Retina

Publications for Three M Syndrome 1

Articles related to Three M Syndrome 1:

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

75
# 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 390)
# Gene Variation Type Significance SNP ID Assembly Location
1 CUL7 NM_014780.4(CUL7): c.4333C> T (p.Arg1445Ter) single nucleotide variant Pathogenic rs121918228 GRCh37 Chromosome 6, 43006687: 43006687
2 CUL7 NM_014780.4(CUL7): c.4333C> T (p.Arg1445Ter) single nucleotide variant Pathogenic rs121918228 GRCh38 Chromosome 6, 43038949: 43038949
3 CUL7 NM_014780.4(CUL7): c.4391A> C (p.His1464Pro) single nucleotide variant Pathogenic rs121918229 GRCh37 Chromosome 6, 43006629: 43006629
4 CUL7 NM_014780.4(CUL7): c.4391A> C (p.His1464Pro) single nucleotide variant Pathogenic rs121918229 GRCh38 Chromosome 6, 43038891: 43038891
5 CUL7 NM_014780.4(CUL7): c.4451_4452delTG (p.Val1484Glyfs) deletion Pathogenic rs730880261 GRCh37 Chromosome 6, 43006419: 43006420
6 CUL7 NM_014780.4(CUL7): c.4451_4452delTG (p.Val1484Glyfs) deletion Pathogenic rs730880261 GRCh38 Chromosome 6, 43038681: 43038682
7 CUL7 NM_014780.4(CUL7): c.4581_4582insT (p.Arg1528Serfs) insertion Pathogenic rs730880301 GRCh37 Chromosome 6, 43006197: 43006197
8 CUL7 NM_014780.4(CUL7): c.4581_4582insT (p.Arg1528Serfs) insertion Pathogenic rs730880301 GRCh38 Chromosome 6, 43038459: 43038459
9 CUL7 NM_014780.4(CUL7): c.3379_3380delTG (p.Trp1127Glufs) deletion Pathogenic rs730880262 GRCh37 Chromosome 6, 43010894: 43010895
10 CUL7 NM_014780.4(CUL7): c.3379_3380delTG (p.Trp1127Glufs) deletion Pathogenic rs730880262 GRCh38 Chromosome 6, 43043156: 43043157
11 CUL7 NM_014780.4(CUL7): c.1570-3C> A single nucleotide variant Pathogenic rs730880263 GRCh38 Chromosome 6, 43049665: 43049665
12 CUL7 NM_014780.4(CUL7): c.1570-3C> A single nucleotide variant Pathogenic rs730880263 GRCh37 Chromosome 6, 43017403: 43017403
13 CUL7 NM_001168370.1(CUL7): c.2844T> G (p.Tyr948Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201406974 GRCh37 Chromosome 6, 43014042: 43014042
14 CUL7 NM_001168370.1(CUL7): c.2844T> G (p.Tyr948Ter) single nucleotide variant Pathogenic/Likely pathogenic rs201406974 GRCh38 Chromosome 6, 43046304: 43046304
15 OBSL1 NM_015311.2(OBSL1): c.921T> C (p.Leu307=) single nucleotide variant Benign rs10180675 GRCh37 Chromosome 2, 220435034: 220435034
16 OBSL1 NM_015311.2(OBSL1): c.921T> C (p.Leu307=) single nucleotide variant Benign rs10180675 GRCh38 Chromosome 2, 219570312: 219570312
17 OBSL1 NM_015311.2(OBSL1): c.600G> A (p.Arg200=) single nucleotide variant Conflicting interpretations of pathogenicity rs373739744 GRCh37 Chromosome 2, 220435355: 220435355
18 OBSL1 NM_015311.2(OBSL1): c.600G> A (p.Arg200=) single nucleotide variant Conflicting interpretations of pathogenicity rs373739744 GRCh38 Chromosome 2, 219570633: 219570633
19 OBSL1 NM_015311.2(OBSL1): c.3649G> A (p.Glu1217Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs72957510 GRCh37 Chromosome 2, 220422686: 220422686
20 OBSL1 NM_015311.2(OBSL1): c.3649G> A (p.Glu1217Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs72957510 GRCh38 Chromosome 2, 219557964: 219557964
21 CUL7 NM_014780.4(CUL7): c.2563A> G (p.Lys855Glu) single nucleotide variant Uncertain significance rs140218677 GRCh37 Chromosome 6, 43014071: 43014071
22 CUL7 NM_014780.4(CUL7): c.2563A> G (p.Lys855Glu) single nucleotide variant Uncertain significance rs140218677 GRCh38 Chromosome 6, 43046333: 43046333
23 CUL7 NM_014780.4(CUL7): c.3041T> G (p.Leu1014Arg) single nucleotide variant Likely pathogenic rs61752334 GRCh37 Chromosome 6, 43012621: 43012621
24 CUL7 NM_014780.4(CUL7): c.3041T> G (p.Leu1014Arg) single nucleotide variant Likely pathogenic rs61752334 GRCh38 Chromosome 6, 43044883: 43044883
25 CUL7 NM_014780.4(CUL7): c.3490C> T (p.Arg1164Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201135654 GRCh37 Chromosome 6, 43010695: 43010695
26 CUL7 NM_014780.4(CUL7): c.3490C> T (p.Arg1164Trp) single nucleotide variant Conflicting interpretations of pathogenicity rs201135654 GRCh38 Chromosome 6, 43042957: 43042957
27 OBSL1 NM_015311.2(OBSL1): c.5309-4C> G single nucleotide variant Benign rs34490902 GRCh37 Chromosome 2, 220416942: 220416942
28 OBSL1 NM_015311.2(OBSL1): c.5309-4C> G single nucleotide variant Benign rs34490902 GRCh38 Chromosome 2, 219552220: 219552220
29 CUL7 NM_014780.4(CUL7): c.465A> T (p.Gly155=) single nucleotide variant Conflicting interpretations of pathogenicity rs150212051 GRCh37 Chromosome 6, 43020062: 43020062
30 CUL7 NM_014780.4(CUL7): c.465A> T (p.Gly155=) single nucleotide variant Conflicting interpretations of pathogenicity rs150212051 GRCh38 Chromosome 6, 43052324: 43052324
31 CUL7 NM_014780.4(CUL7): c.533G> T (p.Arg178Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183865568 GRCh37 Chromosome 6, 43019994: 43019994
32 CUL7 NM_014780.4(CUL7): c.533G> T (p.Arg178Leu) single nucleotide variant Conflicting interpretations of pathogenicity rs183865568 GRCh38 Chromosome 6, 43052256: 43052256
33 CUL7 NM_014780.4(CUL7): c.4717C> T (p.Arg1573Ter) single nucleotide variant Pathogenic rs749509661 GRCh37 Chromosome 6, 43006061: 43006061
34 CUL7 NM_014780.4(CUL7): c.4717C> T (p.Arg1573Ter) single nucleotide variant Pathogenic rs749509661 GRCh38 Chromosome 6, 43038323: 43038323
35 CUL7 NM_014780.4(CUL7): c.4762C> A (p.Leu1588Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147493246 GRCh37 Chromosome 6, 43006016: 43006016
36 CUL7 NM_014780.4(CUL7): c.4762C> A (p.Leu1588Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147493246 GRCh38 Chromosome 6, 43038278: 43038278
37 CUL7 NM_014780.4(CUL7): c.898_919del22 (p.Met300Trpfs) deletion Pathogenic rs794727644 GRCh37 Chromosome 6, 43019020: 43019041
38 CUL7 NM_014780.4(CUL7): c.898_919del22 (p.Met300Trpfs) deletion Pathogenic rs794727644 GRCh38 Chromosome 6, 43051282: 43051303
39 CUL7 NM_014780.4(CUL7): c.1030G> A (p.Ala344Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs183119565 GRCh37 Chromosome 6, 43018909: 43018909
40 CUL7 NM_014780.4(CUL7): c.1030G> A (p.Ala344Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs183119565 GRCh38 Chromosome 6, 43051171: 43051171
41 CUL7 NM_014780.4(CUL7): c.1542G> T (p.Gln514His) single nucleotide variant Conflicting interpretations of pathogenicity rs146808129 GRCh37 Chromosome 6, 43017728: 43017728
42 CUL7 NM_014780.4(CUL7): c.1542G> T (p.Gln514His) single nucleotide variant Conflicting interpretations of pathogenicity rs146808129 GRCh38 Chromosome 6, 43049990: 43049990
43 OBSL1 NM_015311.2(OBSL1): c.2238G> A (p.Pro746=) single nucleotide variant Conflicting interpretations of pathogenicity rs142650279 GRCh37 Chromosome 2, 220430133: 220430133
44 OBSL1 NM_015311.2(OBSL1): c.2238G> A (p.Pro746=) single nucleotide variant Conflicting interpretations of pathogenicity rs142650279 GRCh38 Chromosome 2, 219565411: 219565411
45 CUL7 NM_014780.4(CUL7): c.3173-1G> C single nucleotide variant Pathogenic rs864309521 GRCh38 Chromosome 6, 43043631: 43043631
46 CUL7 NM_014780.4(CUL7): c.3173-1G> C single nucleotide variant Pathogenic rs864309521 GRCh37 Chromosome 6, 43011369: 43011369
47 OBSL1 NM_015311.2(OBSL1): c.4192G> A (p.Val1398Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147543583 GRCh37 Chromosome 2, 220421320: 220421320
48 OBSL1 NM_015311.2(OBSL1): c.4192G> A (p.Val1398Ile) single nucleotide variant Conflicting interpretations of pathogenicity rs147543583 GRCh38 Chromosome 2, 219556598: 219556598
49 CUL7 NM_014780.4(CUL7): c.3993G> A (p.Leu1331=) single nucleotide variant Benign rs2273917 GRCh37 Chromosome 6, 43008298: 43008298
50 CUL7 NM_014780.4(CUL7): c.3993G> A (p.Leu1331=) single nucleotide variant Benign rs2273917 GRCh38 Chromosome 6, 43040560: 43040560

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:

37
# 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 perinuclear region of cytoplasm GO:0048471 9.43 CUL7 OBSL1 SRCAP
2 centrosome GO:0005813 9.33 CCDC8 CUL7 OBSL1
3 microtubule organizing center GO:0005815 9.13 CCDC8 CUL7 OBSL1
4 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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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