3M1
MCID: THR117
MIFTS: 63

Three M Syndrome 1 (3M1)

Categories: Bone diseases, Endocrine diseases, Fetal 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 56 73 29 6 71
Three M Syndrome 12 24 52 25 73 29 6
3-M Syndrome 12 74 24 52 25 58 15
Yakut Short Stature Syndrome 12 52 25 58 73 6
Dolichospondylic Dysplasia 56 12 52 25 58 73
Gloomy Face Syndrome 56 12 74 52 58 73
Le Merrer Syndrome 56 12 52 25 58 73
3m Syndrome 56 24 52 58 36
3m1 56 52 73
Miller-Mckusick-Malvaux Syndrome 12 73
Miller-Mckusick-Malvaux-Syndrome 43 71
Three-M Slender-Boned Nanism 52 25
Dwarfism Tall Vertebrae 43 71
3-M Syndrome 1 56 13
Dwarfism 43 71
3-Msbn 52 25
Three M Syndrome, Type 1 39
3m Syndrome 1 73
3m Syndrome-1 73

Characteristics:

Orphanet epidemiological data:

58
3m syndrome
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: normal life expectancy;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
three m syndrome 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Three M Syndrome 1

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. Individuals with 3-M syndrome grow extremely slowly before birth, and this slow growth continues throughout childhood and adolescence. They have low birth weight and length and remain much smaller than others in their family, growing to an adult height of approximately 4 feet to 4 feet 6 inches (120 centimeters to 130 centimeters). In some affected individuals, the head is normal-sized but looks disproportionately large in comparison with the body. In other people with this disorder, the head has an unusually long and narrow shape (dolichocephaly). Intelligence is unaffected by 3-M syndrome, and life expectancy is generally normal. In addition to short stature, people with 3-M syndrome have a triangle-shaped face with a broad, prominent forehead (frontal bossing) and a pointed chin; the middle of the face is less prominent (hypoplastic midface). Other common features include large ears, full eyebrows, an upturned nose with a fleshy tip, a long area between the nose and mouth (philtrum), a prominent mouth, and full lips. Other skeletal abnormalities that often occur in this disorder include a short, broad neck and chest; prominent shoulder blades; and shoulders that slope less than usual (square shoulders). Affected individuals may have abnormal spinal curvature such as a rounded upper back that also curves to the side (kyphoscoliosis) or exaggerated curvature of the lower back (hyperlordosis). People with 3-M syndrome can also have unusual curving of the fingers (clinodactyly), short fifth (pinky) fingers, prominent heels, and loose joints. Additional skeletal abnormalities, such as unusually slender long bones in the arms and legs; tall, narrow spinal bones (vertebrae); or slightly delayed bone age may be apparent in x-ray images. A variant of 3-M syndrome called Yakut short stature syndrome has been identified in the isolated Yakut population in the Russian province of Siberia. In addition to having most of the physical features characteristic of 3-M syndrome, people with this form of the disorder are often born with breathing problems that can be life-threatening in infancy.

MalaCards based summary : Three M Syndrome 1, also known as three m syndrome, is related to isolated growth hormone deficiency, type ia and dubowitz syndrome, 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 are Ubiquitin mediated proteolysis and Developmental Biology. The drugs Fentanyl and Bupivacaine have been mentioned in the context of this disorder. Affiliated tissues include bone, testes and brain, and related phenotypes are delayed skeletal maturation and short neck

Disease Ontology : 12 A syndrome characterized by dwarfism, facial dysmorphia and skeletal abnormalities.

NIH Rare Diseases : 52 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.

OMIM : 56 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)

KEGG : 36 The 3M syndrome is an autosomal recessive disorder characterized by pre- and postnatal growth retardation. It is caused by mutations in CUL7 and OBSL1.

UniProtKB/Swiss-Prot : 73 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 : 74 3-M syndrome or 3M3 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 738)
# Related Disease Score Top Affiliating Genes
1 isolated growth hormone deficiency, type ia 30.8 OBSL1 CUL7 CRIPT CCDC8
2 dubowitz syndrome 30.5 OBSL1 CUL7
3 microcephalic osteodysplastic primordial dwarfism, type i 12.7
4 microcephalic osteodysplastic primordial dwarfism, type ii 12.7
5 parastremmatic dwarfism 12.6
6 lenz-majewski hyperostotic dwarfism 12.6
7 alopecia-contractures-dwarfism mental retardation syndrome 12.5
8 ichthyosis, mental retardation, dwarfism, and renal impairment 12.5
9 keratosis follicularis, dwarfism, and cerebral atrophy 12.4
10 alaninuria with microcephaly, dwarfism, enamel hypoplasia, and diabetes mellitus 12.4
11 microcephalic osteodysplastic primordial dwarfism, type iii 12.3
12 microcephalic primordial dwarfism, montreal type 12.3
13 dwarfism, levi type 12.3
14 megaepiphyseal dwarfism 12.3
15 microcephalic primordial dwarfism, toriello type 12.3
16 dwarfism, familial, with muscle spasms 12.2
17 alopecia-contractures-dwarfism-intellectual disability syndrome 12.2
18 osteoglophonic dysplasia 12.2
19 dwarfism with stiff joints and ocular abnormalities 12.2
20 mesomelic dwarfism of hypoplastic tibia and radius type 12.2
21 synovial chondromatosis, familial, with dwarfism 12.2
22 tryptophanuria with dwarfism 12.2
23 laron syndrome 12.2
24 seckel syndrome 12.2
25 metatropic dysplasia 12.2
26 microcephalic primordial dwarfism-insulin resistance syndrome 12.2
27 dwarfism with tall vertebrae 12.2
28 syndesmodysplasic dwarfism 12.2
29 genital dwarfism 12.2
30 thanatophoric dysplasia, type i 12.2
31 achondroplasia 12.1
32 seckel syndrome 1 12.1
33 oliver-mcfarlane syndrome 12.1
34 amino aciduria with mental deficiency, dwarfism, muscular dystrophy, osteoporosis, and acidosis 12.1
35 dwarfism, low-birth-weight type, with unresponsiveness to growth hormone 12.1
36 dwarfism, proportionate, with hip dislocation 12.1
37 pituitary dwarfism with large sella turcica 12.1
38 brachydactylous dwarfism mseleni type 12.1
39 diastrophic dysplasia 12.1
40 thanatophoric dysplasia, type ii 12.0
41 dwarfism, mental retardation, and eye abnormality 12.0
42 dwarfism bluish sclerae 12.0
43 dwarfism deafness retinitis pigmentosa 12.0
44 dwarfism lethal type advanced bone age 12.0
45 dwarfism thin bones multiple fractures 12.0
46 enchondromatosis dwarfism deafness 12.0
47 genital dwarfism, turner type 12.0
48 robinow syndrome 12.0
49 seckel syndrome 2 12.0
50 peters-plus syndrome 12.0

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:

58 31 (show top 50) (show all 57)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 delayed skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0002750
2 short neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000470
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 thick eyebrow 58 31 hallmark (90%) Very frequent (99-80%) HP:0000574
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of the metaphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000944
7 frontal bossing 58 31 hallmark (90%) Very frequent (99-80%) HP:0002007
8 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
9 intrauterine growth retardation 58 31 hallmark (90%) Very frequent (99-80%) HP:0001511
10 slender long bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003100
11 scapular winging 58 31 hallmark (90%) Very frequent (99-80%) HP:0003691
12 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
13 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
14 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
15 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
16 rocker bottom foot 58 31 hallmark (90%) Very frequent (99-80%) HP:0001838
17 hypoplastic pubic bone 58 31 hallmark (90%) Very frequent (99-80%) HP:0003173
18 hypoplastic ischia 58 31 hallmark (90%) Very frequent (99-80%) HP:0003175
19 hypoplastic pelvis 58 31 hallmark (90%) Very frequent (99-80%) HP:0008839
20 increased vertebral height 58 31 hallmark (90%) Very frequent (99-80%) HP:0004570
21 short thorax 58 31 frequent (33%) Frequent (79-30%) HP:0010306
22 hyperlordosis 58 31 frequent (33%) Frequent (79-30%) HP:0003307
23 enlarged thorax 58 31 frequent (33%) Frequent (79-30%) HP:0100625
24 dolichocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000268
25 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
26 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
27 protruding ear 58 31 frequent (33%) Frequent (79-30%) HP:0000411
28 abnormality of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0000682
29 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
30 pointed chin 58 31 frequent (33%) Frequent (79-30%) HP:0000307
31 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
32 abnormality of the elbow 58 31 frequent (33%) Frequent (79-30%) HP:0009811
33 hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0003022
34 thin ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000883
35 horizontal ribs 58 31 frequent (33%) Frequent (79-30%) HP:0000888
36 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
37 kyphosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002808
38 congenital hip dislocation 58 31 occasional (7.5%) Occasional (29-5%) HP:0001374
39 decreased fertility 58 31 occasional (7.5%) Occasional (29-5%) HP:0000144
40 clinodactyly of the 5th finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0004209
41 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
42 abnormality of the cerebral vasculature 58 31 occasional (7.5%) Occasional (29-5%) HP:0100659
43 depressed nasal bridge 31 HP:0005280
44 mandibular prognathia 31 HP:0000303
45 pes planus 31 HP:0001763
46 thick lower lip vermilion 31 HP:0000179
47 postnatal growth retardation 31 HP:0008897
48 pectus excavatum 31 HP:0000767
49 neonatal respiratory distress 31 HP:0002643
50 joint hypermobility 31 HP:0001382

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Neck:
short neck

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

Head And Neck Head:
frontal bossing
increased relative head circumference

Skeletal:
joint dislocation
joint hypermobility
delayed bone age

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

Skeletal Skull:
dolichocephaly

Skeletal Pelvis:
hip dislocation
small pelvis

Neurologic Central Nervous System:
spina bifida occulta
normal intelligence

Abdomen External Features:
enlarged abdomen

Head And Neck Mouth:
full lips

Head And Neck Eyes:
full eyebrows

Skeletal Limbs:
long, slender tubular bones

Skeletal Feet:
pes planus
prominent heels

Growth Height:
short stature

Skeletal Spine:
hyperlordosis
tall vertebral bodies

Growth Other:
intrauterine growth retardation
postnatal growth retardation

Respiratory:
neonatal respiratory distress

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

Genitourinary External Genitalia Male:
hypospadias
small testes

Skeletal Hands:
clinodactyly
short fifth fingers

Growth Weight:
low birth weight

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

Skin Nails Hair Hair:
full eyebrows

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):

(show top 50) (show all 95)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Fentanyl Approved, Illicit, Investigational, Vet_approved Phase 4 437-38-7 3345
2
Bupivacaine Approved, Investigational Phase 4 2180-92-9, 38396-39-3 2474
3 Imatinib Mesylate Phase 4 220127-57-1 123596
4 Hormone Antagonists Phase 4
5 Anesthetics Phase 4
6 Anesthetics, Local Phase 4
7 Antineoplastic Agents, Hormonal Phase 4
8 Contraceptive Agents Phase 4
9 Triptorelin Pamoate Phase 4
10
Letrozole Approved, Investigational Phase 3 112809-51-5 3902
11
Anastrozole Approved, Investigational Phase 3 120511-73-1 2187
12
Mannitol Approved, Investigational Phase 3 69-65-8 6251 453
13
Leuprolide Approved, Investigational Phase 3 53714-56-0 657181 3911
14
Zinc Approved, Investigational Phase 2, Phase 3 7440-66-6 32051
15
tannic acid Approved Phase 3 1401-55-4
16
Benzocaine Approved, Investigational Phase 3 94-09-7, 1994-09-7 2337
17
Glycine Approved, Nutraceutical, Vet_approved Phase 3 56-40-6 750
18 Pharmaceutical Solutions Phase 3
19 Estrogen Antagonists Phase 3
20 Estrogen Receptor Antagonists Phase 3
21 Aromatase Inhibitors Phase 3
22 Natriuretic Peptide, C-Type Phase 3
23 Chelating Agents Phase 2, Phase 3
24 Hypoglycemic Agents Phase 3
25 Immunoglobulins Phase 3
26 Antibodies Phase 3
27
Oxandrolone Approved, Investigational Phase 2 53-39-4 5878
28
mometasone furoate Approved, Investigational, Vet_approved Phase 2 83919-23-7
29
Nicotinamide Approved, Investigational Phase 1, Phase 2 98-92-0 936
30
Tyrosine Approved, Investigational, Nutraceutical Phase 2 60-18-4 6057
31
Folic acid Approved, Nutraceutical, Vet_approved Phase 1, Phase 2 59-30-3 6037
32
Niacin Approved, Investigational, Nutraceutical Phase 1, Phase 2 59-67-6 938
33
Deslorelin Investigational, Vet_approved Phase 2 57773-65-6
34 Anabolic Agents Phase 2
35 Androgens Phase 2
36 N-(2-aminoethyl)-5-isoquinolinesulfonamide Phase 2
37 Prolactin Release-Inhibiting Factors Phase 2
38 Estrogens Phase 2
39 Vitamins Phase 1, Phase 2
40 Nutrients Phase 1, Phase 2
41 Micronutrients Phase 1, Phase 2
42 Trace Elements Phase 1, Phase 2
43 Vitamin B Complex Phase 1, Phase 2
44 Hypolipidemic Agents Phase 1, Phase 2
45 Vitamin B3 Phase 1, Phase 2
46 Nicotinic Acids Phase 1, Phase 2
47 Lipid Regulating Agents Phase 1, Phase 2
48 Vasodilator Agents Phase 1, Phase 2
49 Folate Phase 1, Phase 2
50 Vitamin B9 Phase 1, Phase 2

Interventional clinical trials:

(show top 50) (show all 224)
# Name Status NCT ID Phase Drugs
1 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children Unknown status NCT02314676 Phase 4
2 Phase IV Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Growth Hormone Deficiency Children (Clinical Trial I) Unknown status NCT02380235 Phase 4
3 Randomization to Letrozole vs. Anastrozole in Short Pubertal Males Unknown status NCT02137538 Phase 4 Letrozole;Anastrozole
4 Clinical Study of Pegylated Somatropin (PEG Somatropin) to Treat Children Growth Hormone Deficiency: A Multicenter, Randomized, Parallel, Dose-control Clinical Trial II Unknown status NCT02908958 Phase 4
5 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Open-label, Phase IV Clinical Trial With Different Administration Dosage of PEG Somatropin Unknown status NCT03249480 Phase 4
6 Pegylated Somatropin (PEG Somatropin) in the Treatment of Children With Growth Hormone Deficiency: A Multicenter, Randomized, Open-label, Parallel Phase IV Clinical Trial With Different Administration Frequency of PEG Somatropin Unknown status NCT02976675 Phase 4
7 ASSESSMENT OF GH-IGF1 AXIS AND TO STUDY RESPONSE TO GH THERAPY IN CHILDREN WITH CML IN REMISSION HAVING GH DEFICIENCY Unknown status NCT01901666 Phase 4 Growth Hormone
8 An Open, Multi-centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin® SimpleXx® in Children With GH Deficiency Completed NCT00567385 Phase 4 somatropin
9 A Multicentre Study on the Capacity of the IGF-1 Stimulation Test to Predict the Growth Promoting Effect of Standard and High Doses of Genotonorm® in Prepubertal Children With Growth Hormone Deficiency. Completed NCT00145457 Phase 4
10 Long Term Study Of Pnu-180307 For Short Children Born Small For Gestational Age (Sga) Without Epiphyseal Closure (Extension Of The Study 307-met-0021-002) Completed NCT01859949 Phase 4 Genotropin (somatropin)
11 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient Pre-pubertal Children Treated With Saizen® Completed NCT01187550 Phase 4 Recombinant human growth hormone (r-hGH)
12 A Multi-center, Open, Single-arm, Switch-over, Prospective, Phase IV Study to Assess the Ease of Use, Preference, and Safety After 8 Weeks Subcutaneous Administration of EutropinPen Inj. in Patients Pretreated With Recombinant Human Growth Hormone by Reusable Device Completed NCT03015909 Phase 4 Somatropin
13 Collaborative Study to Assess the Effects of Treatment With Recombinant Growth Hormone Saizen® in the Prevention of Short Stature in Young Girls Suffering From Turner Syndrome Before the Age of 4 Years. Original French Title: Etude Collaborative Pour apprécier Les Effets du Traitement Par l'Hormone de Croissance Recombinante SAIZEN® Dans le Retard de Croissance de la Fillette Atteinte de Syndrome de Turner Avant l'âge de 4 Ans Completed NCT01066052 Phase 4 r-hGH
14 A Phase IV Open-label Study of Predictive Markers in Growth Hormone Deficient and Turner Syndrome Pre-pubertal Children Treated With SAIZEN® Completed NCT00256126 Phase 4 Saizen;Saizen
15 Open-label, Single-arm, Phase IV, Multicenter Trial to Explore the Immunogenicity of the Liquid Formulation of Saizen® in Subjects With Adult Growth Hormone Deficiency (AGHD) Completed NCT01806298 Phase 4 Saizen® solution for injection (referred as Saizen®)
16 Study to Compare Injection Anxiety Immediately Before the Administration of Each Dose of Tev-Tropin® Between a Needle-syringe Injection Method and a Needle-free Injection Method in Pediatric Subjects With Human Growth Hormone Deficiency Completed NCT00990340 Phase 4
17 A Phase IV, Multicenter, Open-Label Study of the Immunogenicity of Nutropin AQ® V1.1 [Somatropin (rDNA Origin) Injection] Administered Daily to Naïve Growth Hormone-Deficient Children (iSTUDY) Completed NCT02311894 Phase 4 Somatropin
18 Effect of Growth Hormone Replacement Therapy on Cardiovascular Risk Factors in Adult Patients With Severe Growth Hormone Deficiency: Association With IGF-I Concentration Completed NCT01877512 Phase 4 Change in daily dosage of Growth Hormone
19 Growth Hormone and Endothelial Function in Children Completed NCT00373386 Phase 4 growth hormone
20 A Multicentre, Randomised, Open-label, Controlled Study to Evaluate the Effects of Saizen® on Cardiac Function in GHD Subjects During the Transition Phase From Childhood to Adulthood Completed NCT01157793 Phase 4 r-hGH;r-hGH
21 The Influence of Growth Hormone (GH) Therapy on Short Stature Related Distress a Prospective Randomized Controlled Trial Completed NCT01246219 Phase 4 GH treatment (Genotropin);1 year treatment with placebo followed by optional 3 years of GH treatment
22 Endocrine Dysfunction and Growth Hormone Deficiency in Children With Optic Nerve Hypoplasia Completed NCT00140413 Phase 4 Nutropin AQ
23 Effects of Treatment With Human Growth Hormone on Insulin Resistance and Insulin Secretion in Adults With Growth Hormone Deficiency Completed NCT00929799 Phase 4 recombinant human Growth Hormone (Genotropin® )
24 One Arm, Open Study to Assess Biochemical Markers of Growth Response to Growth Hormone Treatment in Children With Idiopathic Short Stature Completed NCT00458263 Phase 4 Somatotropin growth hormone recombinant human
25 Effect of Height Versus Height and Weight Based Intrathecal Bupivacaine Dose on Maternal Haemodynamics for Elective Caesarean Section in Short Stature Patients: A Randomized Trial Recruiting NCT04082676 Phase 4 Hyperbaric bupivacaine spinal;Hyperbaric bupivacaine spinal
26 Efficacy and Safety of a 4 Year Combination Therapy of Growth Hormone and Gonadotropin- Releasing Hormone Agonist in Children With a Short Predicted Height. Active, not recruiting NCT00840944 Phase 4 somatropin;triptorelin
27 Cardiovascular Effects on Growth Hormone Replacement Therapy in Adults With Primary or Secondary Childhood Onset Growth Hormone Deficiency Terminated NCT01698944 Phase 4 somatropin
28 Placebo Controlled Trial on the Efficacy of Growth Hormone Replacement Therapy in Patients With Growth Hormone Deficiency After Traumatic Brain Injury. Terminated NCT00555009 Phase 4 Genotropin;Placebo
29 Head Trauma With Traumatic Brain Injury (TBI): A Multicenter, Phase IV Study to Evaluate the Effects of Genotropin in Adult Patients With Growth Hormone Deficiency (GHD) Caused by Trauma and/or Head Injury Terminated NCT00638053 Phase 4
30 Predictive Value of Baseline and Stimulated Serum IGF-1 and IGFBP-3 During a Dose-escalation IGF-1 Generation Test for the 1 Year Growth Response to Growth Hormone (GH) Therapy in Short Children With Low IGF-1 and a Normal GH Peak in a Provocation Test Withdrawn NCT01438801 Phase 4 Nutropin [Somatropin (rDNA origin) for injection]
31 Somatropin (Norditropin) in Children With Growth Failure Associated With ICF Deficiency. Completed NCT00102817 Phase 3 somatropin
32 Effect of Growth Hormone in Children With Growth Hormone Deficiency and Idiopathic Short Stature Completed NCT00262249 Phase 3 somatropin
33 Treatment With Recombinant Human Growth Hormone (Genotonorm®) In Children With Short Stature Secondary To A Long Term Corticoid Therapy. A Study of Efficacy and Safety. Completed NCT00174278 Phase 3 Somatropin
34 Extended Clinical Study of LY137998 [Somatropin (Recombinant DNA Origin)] in Adults With Growth Hormone Deficiency Completed NCT00191360 Phase 3 Somatropin
35 Phase III of the Comparative Study on the Efficacy and Safety of Recombinant Somatropin Administered to Patients With Adult Growth Hormone Deficiency Completed NCT02693522 Phase 3 somatropin;Eutropin
36 Phase III Clinical Trial for Assessment of Efficacy and Safety of DA-3002 (Recombinant Human Growth Hormone) in Patients With Turner's Syndrome Completed NCT01813630 Phase 3 DA-3002;Genotropin®
37 Investigation of the Efficacy and Safety of NN-220 for 48 Weeks in Adults With Growth Hormone Deficiency Completed NCT00184743 Phase 3 somatropin
38 Investigation of the Efficacy and Safety of hGH in Long Term (More Than 48 Weeks) in GHDA. Completed NCT00184730 Phase 3 somatropin
39 Effect of Two Years of Treatment With Norditropin® SimpleXx® on Bone Mineral Density in Young Adults With Childhood-Onset Growth Hormone Deficiency Completed NCT00184678 Phase 3 somatropin
40 An Open, Multi-Centre Trial Evaluating Acceptance of the New Liquid Growth Hormone Formulation - Norditropin Simplexx™ in Children With GH Deficiency Completed NCT01563926 Phase 3 somatropin
41 A Phase III, Double-Blind, Randomized, Placebo-Controlled, Parallel-Group, Multicenter Study to Assess Efficacy and Safety of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency. Completed NCT00294619 Phase 3 growth hormone
42 Open, Multi-Center, Controlled, Randomized Phase III Clinical Trial to Evaluate the Efficacy and Safety of DA-3002(Recombinant Humn Growth Hormone)Treatment in Children With Idiopathic Short Stature Completed NCT01786902 Phase 3 DA-3002
43 A 52-week, Multi-centre, Randomised, Double-blind, Parallel-group, no Treatment Controlled (Open-label) Trial Investigating the Efficacy and Safety of Two Doses of NN-220 in Short Stature With Noonan Syndrome Completed NCT01927861 Phase 3 somatropin
44 Investigation of the Efficacy and Safety of NN-220 for 24 Weeks in Adults With Growth Hormone Deficiency Completed NCT00519558 Phase 3 somatropin
45 Phase III Study of Humatrope in Non-Growth Hormone Deficient Children With Short Stature Completed NCT00191074 Phase 3 somatropin, rDNA origin, for injection
46 Phase IIIB, International, Single Group, Open Study to Define an Optimal Monitoring of IGF-1 in Children Treated With NutropinAq, Using a Novel Capillary Blood Collection Method Completed NCT00234533 Phase 3 Somatropin (rDNA origin)
47 Multicenter, Open-Label Study Assessing Dyad (Subject And Caregiver) Perception Of Convenience And Preference Of The Newly Developed Mark VII Injection Pen Completed NCT00965484 Phase 3
48 A Phase III, Open-label, Uncontrolled, Multicentre, Rollover Study to Assess Safety and Efficacy of LB03002 Administered Weekly in Adults With Growth Hormone Deficiency Completed NCT00596037 Phase 3 Growth hormone - LB03002
49 Efficacy and Safety of a High Dosage Compared to the Label Dosage of Humatrope in Early Pubertal Stage Children With Growth Hormone Deficiency Completed NCT00191165 Phase 3 Somatropin;Somatropin
50 Norditropin® and Norditropin® Cartridges: An Open-Label, Randomized, Comparative Safety and Efficacy Trial in Children With Growth Hormone Deficiency Completed NCT01502124 Phase 3 somatropin;somatropin

Search NIH Clinical Center for Three M Syndrome 1

Inferred drug relations via UMLS 71 / NDF-RT 50 :


Growth Hormone
somatrem
Somatropin
SOMATROPIN (RECOMBINANT DNA ORIGIN)

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:

40
Bone, Testes, Brain, Heart, Pituitary, Endothelial, Kidney

Publications for Three M Syndrome 1

Articles related to Three M Syndrome 1:

(show all 34)
# Title Authors PMID Year
1
The primordial growth disorder 3-M syndrome connects ubiquitination to the cytoskeletal adaptor OBSL1. 24 6 56
19481195 2009
2
A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. 56 6 24
19225462 2009
3
Identification of mutations in CUL7 in 3-M syndrome. 56 24 6
16142236 2005
4
Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: new population isolate in Asia. 56 6
17675530 2007
5
Exome sequencing identifies CCDC8 mutations in 3-M syndrome, suggesting that CCDC8 contributes in a pathway with CUL7 and OBSL1 to control human growth. 6 24
21737058 2011
6
Hip dislocation in 3-M syndrome: risk of misdiagnosis. 24 56
21383554 2011
7
Spectrum of dolichospondylic dysplasia: two new patients with distinctive findings. 56 24
12457407 2002
8
3-M syndrome: description of six new patients with review of the literature. 24 56
11665997 2001
9
Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome. 24 56
2051454 1991
10
Three M Syndrome 6 61
20301654 2002
11
A Rare Cause of Short Stature: 3M Syndrome in a Patient with Novel Mutation in OBSL1 Gene. 6
27796265 2017
12
Severe short stature due to 3-M syndrome with a novel OBSL1 gene mutation. 6
23457316 2013
13
Clinical utility gene card for: 3M syndrome. 6
21364696 2011
14
3-M syndrome: a report of three Egyptian cases with review of the literature. 6
16531729 2006
15
The 3-M syndrome: risk of intracerebral aneurysm? 56
1619640 1992
16
3M dwarfism: a study of two further sibs. 56
2810344 1989
17
3-M syndrome. 56
2929663 1989
18
Further delineation of the 3-M syndrome with review of the literature. 56
3314510 1987
19
The 3-M syndrome. 56
6716411 1984
20
Heterozygous expression in 3-M slender-boned nanism. 56
511178 1979
21
A new familial intrauterine growth retardation syndrome the "3-M syndrome". 56
976277 1976
22
Normal values of the vertebral body and intervertebral disk index in adults. 56
5058528 1972
23
[Familial dwarfism with disproportionately high vertebral bodies]. 56
4641833 1972
24
Normal values of the vertebral body and intervertebral disk index during growth. 56
5489699 1970
25
Whole-exome sequencing gives additional benefits compared to candidate gene sequencing in the molecular diagnosis of children with growth hormone or IGF-1 insensitivity. 24
28870985 2017
26
Pre- and post-natal growth in two sisters with 3-M syndrome. 24
26850509 2016
27
3-M syndrome associated with growth hormone deficiency: 18 year follow-up of a patient. 24
23517720 2013
28
3M syndrome: an easily recognizable yet underdiagnosed cause of proportionate short stature. 24
22325252 2012
29
The 3M syndrome. 24
21396581 2011
30
3-M syndrome in two sisters. 24
12174011 2002
31
3-M syndrome: a prenatal ultrasonographic diagnosis. 24
11113897 2000
32
The 3-M syndrome: a heritable low birthweight dwarfism. 24
1218233 1975
33
Is autosomal recessive Silver-Russel syndrome a separate entity or is it part of the 3-M syndrome spectrum? 61
21548126 2011
34
Two sisters with prenatal growth failure, disproportionate short stature, and feeding difficulties. 61
9823493 1998

Variations for Three M Syndrome 1

ClinVar genetic disease variations for Three M Syndrome 1:

6 (show top 50) (show all 159) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 CUL7 NM_014780.5(CUL7):c.652del (p.Arg218fs)deletion Pathogenic 802219 6:43019430-43019430 6:43051692-43051692
2 CUL7 NM_014780.5(CUL7):c.2988G>A (p.Trp996Ter)SNV Pathogenic 828132 6:43013015-43013015 6:43045277-43045277
3 CUL7 NM_014780.4(CUL7):c.4333C>T (p.Arg1445Ter)SNV Pathogenic 1613 rs121918228 6:43006687-43006687 6:43038949-43038949
4 CUL7 NM_014780.4(CUL7):c.4391A>C (p.His1464Pro)SNV Pathogenic 1614 rs121918229 6:43006629-43006629 6:43038891-43038891
5 CUL7 NM_014780.5(CUL7):c.4449_4450TG[1] (p.Val1484fs)short repeat Pathogenic 1615 rs730880261 6:43006419-43006420 6:43038681-43038682
6 CUL7 NM_014780.4(CUL7):c.4581dup (p.Arg1528fs)duplication Pathogenic 1616 rs730880301 6:43006196-43006197 6:43038458-43038459
7 CUL7 NM_014780.4(CUL7):c.3379_3380del (p.Trp1127fs)deletion Pathogenic 1618 rs730880262 6:43010894-43010895 6:43043156-43043157
8 CUL7 NM_014780.4(CUL7):c.1570-3C>ASNV Pathogenic 1619 rs730880263 6:43017403-43017403 6:43049665-43049665
9 CUL7 NM_001168370.1(CUL7):c.3193_3194CT[1] (p.Cys1066fs)short repeat Pathogenic 425545 rs1064792895 6:43013059-43013060 6:43045321-43045322
10 CUL7 NM_014780.4(CUL7):c.3173-1G>CSNV Pathogenic 218361 rs864309521 6:43011369-43011369 6:43043631-43043631
11 CUL7 NM_001168370.1(CUL7):c.2844T>G (p.Tyr948Ter)SNV Pathogenic/Likely pathogenic 127244 rs201406974 6:43014042-43014042 6:43046304-43046304
12 CUL7 NM_014780.4(CUL7):c.3685C>T (p.Gln1229Ter)SNV Likely pathogenic 599184 rs1561875767 6:43008774-43008774 6:43041036-43041036
13 CUL7 NM_014780.4(CUL7):c.1482G>A (p.Trp494Ter)SNV Likely pathogenic 599185 rs1561892336 6:43017788-43017788 6:43050050-43050050
14 CUL7 NM_014780.4(CUL7):c.206dup (p.Met69fs)duplication Likely pathogenic 599218 rs1561898352 6:43020320-43020321 6:43052582-43052583
15 OBSL1 NM_015311.3(OBSL1):c.1277_1282+5deldeletion Likely pathogenic 599221 rs760929207 2:220432772-220432782 2:219568050-219568060
16 OBSL1 NM_015311.3(OBSL1):c.1187G>A (p.Arg396His)SNV Likely pathogenic 599222 rs1559155800 2:220432872-220432872 2:219568150-219568150
17 OBSL1 NM_015311.3(OBSL1):c.1125dup (p.Glu376Ter)duplication Likely pathogenic 599223 rs1559155954 2:220432933-220432934 2:219568211-219568212
18 CUL7 NM_014780.4(CUL7):c.4115del (p.Glu1372fs)deletion Likely pathogenic 599272 rs1561873941 6:43008073-43008073 6:43040335-43040335
19 CUL7 NM_014780.4(CUL7):c.3089del (p.Pro1030fs)deletion Likely pathogenic 599273 rs1561881909 6:43012573-43012573 6:43044835-43044835
20 CUL7 NM_014780.5(CUL7):c.3722_3749dup (p.Val1252fs)duplication Likely pathogenic 800566 6:43008709-43008710 6:43040971-43040972
21 CUL7 NM_014780.4(CUL7):c.922G>T (p.Val308Leu)SNV Conflicting interpretations of pathogenicity 421728 rs1064795325 6:43019017-43019017 6:43051279-43051279
22 CUL7 NM_014780.4(CUL7):c.3041T>G (p.Leu1014Arg)SNV Conflicting interpretations of pathogenicity 194657 rs61752334 6:43012621-43012621 6:43044883-43044883
23 CUL7 NM_014780.4(CUL7):c.3490C>T (p.Arg1164Trp)SNV Conflicting interpretations of pathogenicity 194968 rs201135654 6:43010695-43010695 6:43042957-43042957
24 CUL7 NM_014780.5(CUL7):c.3915G>A (p.Leu1305=)SNV Conflicting interpretations of pathogenicity 744516 6:43008376-43008376 6:43040638-43040638
25 CUL7 NM_014780.5(CUL7):c.426C>T (p.His142=)SNV Conflicting interpretations of pathogenicity 756046 6:43020101-43020101 6:43052363-43052363
26 CUL7 NM_014780.4(CUL7):c.136C>T (p.Arg46Trp)SNV Conflicting interpretations of pathogenicity 195300 rs141692693 6:43020391-43020391 6:43052653-43052653
27 CUL7 NM_014780.4(CUL7):c.533G>T (p.Arg178Leu)SNV Conflicting interpretations of pathogenicity 195302 rs183865568 6:43019994-43019994 6:43052256-43052256
28 CUL7 NM_014780.4(CUL7):c.3432G>A (p.Thr1144=)SNV Conflicting interpretations of pathogenicity 260439 rs144556973 6:43010842-43010842 6:43043104-43043104
29 CUL7 NM_014780.4(CUL7):c.1590A>C (p.Leu530=)SNV Conflicting interpretations of pathogenicity 260434 rs552325363 6:43017380-43017380 6:43049642-43049642
30 CUL7 NM_014780.4(CUL7):c.861G>A (p.Gly287=)SNV Conflicting interpretations of pathogenicity 260442 rs61750322 6:43019078-43019078 6:43051340-43051340
31 CUL7 NM_014780.4(CUL7):c.3747G>A (p.Leu1249=)SNV Conflicting interpretations of pathogenicity 282091 rs141211365 6:43008712-43008712 6:43040974-43040974
32 CUL7 NM_014780.4(CUL7):c.4659G>A (p.Glu1553=)SNV Conflicting interpretations of pathogenicity 290743 rs139243761 6:43006119-43006119 6:43038381-43038381
33 CUL7 NM_014780.4(CUL7):c.2115C>T (p.His705=)SNV Conflicting interpretations of pathogenicity 356843 rs143128153 6:43015940-43015940 6:43048202-43048202
34 CUL7 NM_014780.4(CUL7):c.1215C>T (p.Asn405=)SNV Conflicting interpretations of pathogenicity 356850 rs755095253 6:43018724-43018724 6:43050986-43050986
35 CUL7 NM_014780.4(CUL7):c.1716C>G (p.Ala572=)SNV Conflicting interpretations of pathogenicity 356846 rs150213603 6:43017254-43017254 6:43049516-43049516
36 CUL7 NM_014780.4(CUL7):c.3463-10T>CSNV Conflicting interpretations of pathogenicity 356828 rs527664718 6:43010732-43010732 6:43042994-43042994
37 CUL7 NM_014780.4(CUL7):c.3027C>T (p.His1009=)SNV Uncertain significance 356832 rs886061416 6:43012976-43012976 6:43045238-43045238
38 CUL7 NM_014780.4(CUL7):c.1664C>T (p.Ala555Val)SNV Uncertain significance 356847 rs747565596 6:43017306-43017306 6:43049568-43049568
39 CUL7 NM_014780.4(CUL7):c.841G>A (p.Ala281Thr)SNV Uncertain significance 356853 rs374438135 6:43019098-43019098 6:43051360-43051360
40 CUL7 NM_014780.4(CUL7):c.161G>T (p.Gly54Val)SNV Uncertain significance 356858 rs886061422 6:43020366-43020366 6:43052628-43052628
41 CUL7 NM_014780.4(CUL7):c.88G>A (p.Val30Met)SNV Uncertain significance 356859 rs752077507 6:43020439-43020439 6:43052701-43052701
42 CUL7 NM_014780.4(CUL7):c.2789G>A (p.Ser930Asn)SNV Uncertain significance 356834 rs61750321 6:43013398-43013398 6:43045660-43045660
43 CUL7 NM_014780.4(CUL7):c.2720T>C (p.Val907Ala)SNV Uncertain significance 356836 rs886061417 6:43013770-43013770 6:43046032-43046032
44 CUL7 NM_014780.4(CUL7):c.-236G>ASNV Uncertain significance 356861 rs886061423 6:43021587-43021587 6:43053849-43053849
45 CUL7 NM_014780.4(CUL7):c.1513G>A (p.Asp505Asn)SNV Uncertain significance 356848 rs886061419 6:43017757-43017757 6:43050019-43050019
46 CUL7 NM_014780.4(CUL7):c.*71A>GSNV Uncertain significance 356812 rs547477552 6:43005355-43005355 6:43037617-43037617
47 CUL7 NM_014780.4(CUL7):c.733-12T>GSNV Uncertain significance 356854 rs755447863 6:43019218-43019218 6:43051480-43051480
48 CUL7 NM_014780.4(CUL7):c.249C>T (p.Gly83=)SNV Uncertain significance 356857 rs764168236 6:43020278-43020278 6:43052540-43052540
49 CUL7 NM_014780.4(CUL7):c.4346C>T (p.Thr1449Met)SNV Uncertain significance 356824 rs144111004 6:43006674-43006674 6:43038936-43038936
50 CUL7 NM_014780.4(CUL7):c.*57A>GSNV Uncertain significance 356813 rs565386041 6:43005369-43005369 6:43037631-43037631

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

73
# 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

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:

36
# Name Kegg Source Accession
1 Ubiquitin mediated proteolysis hsa04120

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

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.19 RBX1 KRTAP23-1 KRTAP22-1 KRTAP19-8 KRTAP19-4 KRTAP12-4
2
Show member pathways
11.92 SKP1 RBX1 CUL1
3 11.88 SKP1 RBX1 CUL1
4 11.76 SKP1 RBX1 CUL1
5
Show member pathways
11.56 KRTAP23-1 KRTAP22-1 KRTAP19-8 KRTAP19-4 KRTAP12-4 KRTAP10-9
6 11.55 SKP1 RBX1 CUL1
7 11.5 SKP1 RBX1 FBXW8 CUL7 CUL1
8
Show member pathways
11.18 SKP1 RBX1 CUL1
9
Show member pathways
11.11 SKP1 RBX1 CUL1
10 10.98 SKP1 RBX1 CUL1
11
Show member pathways
10.33 SKP1 RBX1 CUL1

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 cytosol GO:0005829 10.16 SKP1 RBX1 OBSL1 OBSCN KRTAP23-1 KRTAP22-1
2 SCF ubiquitin ligase complex GO:0019005 9.67 SKP1 RBX1 FBXW8 CUL1
3 intermediate filament GO:0005882 9.61 KRTAP23-1 KRTAP22-2 KRTAP22-1 KRTAP20-4 KRTAP20-3 KRTAP19-8
4 cullin-RING ubiquitin ligase complex GO:0031461 9.5 RBX1 CUL9 CUL1
5 Cul7-RING ubiquitin ligase complex GO:0031467 9.46 SKP1 RBX1 FBXW8 CUL7
6 M band GO:0031430 9.4 OBSL1 OBSCN
7 3M complex GO:1990393 9.02 OBSL1 FBXW8 CUL7 CCDC8 ANKRA2

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

(show all 14)
# Name GO ID Score Top Affiliating Genes
1 protein ubiquitination GO:0016567 9.91 SKP1 RBX1 FBXW8 CUL9 CUL7 CUL1
2 protein polyubiquitination GO:0000209 9.78 SKP1 RBX1 FBXW8 CUL1
3 ubiquitin-dependent protein catabolic process GO:0006511 9.77 SKP1 RBX1 CUL9 CUL7 CUL1
4 microtubule cytoskeleton organization GO:0000226 9.71 OBSL1 CUL9 CUL7 CCDC8
5 Golgi organization GO:0007030 9.7 OBSL1 FBXW8 CUL7
6 interleukin-1-mediated signaling pathway GO:0070498 9.69 SKP1 RBX1 CUL1
7 SCF-dependent proteasomal ubiquitin-dependent protein catabolic process GO:0031146 9.67 SKP1 RBX1 CUL1
8 negative regulation of G2/M transition of mitotic cell cycle GO:0010972 9.63 SKP1 RBX1 CUL1
9 keratinization GO:0031424 9.63 KRTAP23-1 KRTAP22-1 KRTAP19-8 KRTAP19-4 KRTAP12-4 KRTAP10-9
10 stress-activated MAPK cascade GO:0051403 9.54 SKP1 CUL1
11 positive regulation of dendrite morphogenesis GO:0050775 9.5 OBSL1 FBXW8 CUL7
12 SCF complex assembly GO:0010265 9.43 SKP1 RBX1 CUL1
13 regulation of mitotic nuclear division GO:0007088 9.26 OBSL1 CUL9 CUL7 CCDC8
14 post-translational protein modification GO:0043687 9.23 SKP1 RBX1 OBSL1 FBXW8 CUL9 CUL7

Molecular functions related to Three M Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ubiquitin protein ligase binding GO:0031625 9.02 RBX1 CUL9 CUL7 CUL1 ANKRA2
2 cullin family protein binding GO:0097602 8.96 SKP1 RBX1

Sources for Three M Syndrome 1

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11 DGIdb
17 EFO
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61 PubMed
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68 SNOMED-CT via HPO
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72 UMLS via Orphanet
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