MCID: MLL012
MIFTS: 50

Miller Syndrome

Categories: Genetic diseases, Rare diseases, Eye diseases, Bone diseases, Fetal diseases

Aliases & Classifications for Miller Syndrome

MalaCards integrated aliases for Miller Syndrome:

Name: Miller Syndrome 54 50 24 25 56 71 29 13
Postaxial Acrofacial Dysostosis 24 25 56 71
Genee-Wiedemann Syndrome 50 24 25 69
Poads 24 56 71 52
Genee-Wiedemann Acrofacial Dysostosis 50 25
Mandibulfacial Dysostosis with Postaxial Limb Anomalies 56
Postaxial Acrofacial Dysostosis Syndrome 50
Acrofacial Dysostosis, Genee-Wiedmann Type 56
Chromosome 11p Deletion Syndrome 69
Wildervanck-Smith Syndrome 50
Postaxial Acrodysostosis 56
Poads Syndrome 50
Gwafd 50

Characteristics:

Orphanet epidemiological data:

56
postaxial acrofacial dysostosis
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive

Miscellaneous:
most cases are sporadic
autosomal recessive and dominant pedigrees described


HPO:

32
miller syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Miller Syndrome

NIH Rare Diseases : 50 miller syndrome is a rare condition that mainly affects the development of the face and limbs. characteristic features include underdeveloped cheek bones, a very small lower jaw, cleft lip and/or palate, abnormalities of the eyes, absent fifth (pinky) fingers and toes, and abnormally formed bones in the forearms and lower legs. the severity of the disorder varies among affected individuals. miller syndrome is caused by mutations in the dhodh gene. it is inherited in an autosomal recessive manner. last updated: 5/27/2014

MalaCards based summary : Miller Syndrome, also known as postaxial acrofacial dysostosis, is related to say barber miller syndrome and acrofacial dysostosis 1, nager type, and has symptoms including strabismus, micrognathia and cleft palate. An important gene associated with Miller Syndrome is DHODH (Dihydroorotate Dehydrogenase (Quinone)), and among its related pathways/superpathways are Formation of Fibrin Clot (Clotting Cascade) and Complement and coagulation cascades. The drugs Ezetimibe and Simvastatin have been mentioned in the context of this disorder. Affiliated tissues include bone, eye and heart.

UniProtKB/Swiss-Prot : 71 Postaxial acrofacial dysostosis: POADS is characterized by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples. POADS is a very rare disorder: only 2 multiplex families, each consisting of 2 affected siblings born to unaffected, nonconsanguineous parents, have been described among a total of around 30 reported cases.

Genetics Home Reference : 25 Miller syndrome is a rare condition that mainly affects the development of the face and limbs. The severity of this disorder varies among affected individuals.

OMIM : 54
Miller syndrome, or postaxial acrofacial dysostosis, is a rare autosomal recessive disorder characterized clinically by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples (summary by Ng et al., 2010). (263750)

Wikipedia : 72 Miller syndrome is a genetic condition also known as the Genee–Wiedemann syndrome, Wildervanck–Smith... more...

Related Diseases for Miller Syndrome

Graphical network of the top 20 diseases related to Miller Syndrome:



Diseases related to Miller Syndrome

Symptoms & Phenotypes for Miller Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Ears:
low-set ears
conductive hearing loss
cup-shaped ears

Genitourinary- External Genitalia Male:
micropenis

Head And Neck- Mouth:
cleft palate
cleft lip

Chest- Ribs Sternum Clavicles And Scapulae:
pectus excavatum
rib defects

Skeletal- Limbs:
radioulnar synostosis
radial hypoplasia
ulnar hypoplasia
in-curving forearms

Skeletal- Skull:
malar hypoplasia

Genitourinary- Kidneys:
renal anomalies

Skeletal- Spine:
supernumerary vertebrae

Abdomen- Gastroin testinal:
pyloric stenosis
midgut malrotation

Skeletal- Feet:
absence of fifth digit

Head And Neck- Face:
micrognathia

Head And Neck- Nose:
choanal atresia

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Hands:
syndactyly
thumb hypoplasia
absence of fifth digit

Skeletal- Pelvis:
congenital hip dislocation

Head And Neck- Teeth:
conical teeth

Head And Neck- Eyes:
ectropion
eyelid coloboma
downslanting palpebral fissure

Chest- Breasts:
accessory nipples

Growth- Other:
postnatal growth deficiency


Clinical features from OMIM:

263750

Human phenotypes related to Miller Syndrome:

56 32 (show all 39)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 strabismus 56 32 occasional (7.5%) Occasional (29-5%) HP:0000486
2 micrognathia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000347
3 cleft palate 56 32 frequent (33%) Frequent (79-30%) HP:0000175
4 finger syndactyly 56 32 frequent (33%) Frequent (79-30%) HP:0006101
5 downslanted palpebral fissures 56 32 hallmark (90%) Very frequent (99-80%) HP:0000494
6 low-set, posteriorly rotated ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000368
7 microtia 56 32 hallmark (90%) Very frequent (99-80%) HP:0008551
8 malar flattening 56 32 hallmark (90%) Very frequent (99-80%) HP:0000272
9 supernumerary nipple 56 32 hallmark (90%) Very frequent (99-80%) HP:0002558
10 ectropion of lower eyelids 56 32 hallmark (90%) Very frequent (99-80%) HP:0007651
11 cleft eyelid 56 32 hallmark (90%) Very frequent (99-80%) HP:0000625
12 abnormal dermatoglyphics 56 32 hallmark (90%) Very frequent (99-80%) HP:0007477
13 non-midline cleft lip 56 32 frequent (33%) Frequent (79-30%) HP:0100335
14 conductive hearing impairment 56 32 frequent (33%) Frequent (79-30%) HP:0000405
15 camptodactyly of finger 56 32 frequent (33%) Frequent (79-30%) HP:0100490
16 hypoplasia of the ulna 56 32 hallmark (90%) Very frequent (99-80%) HP:0003022
17 hypoplasia of the radius 56 32 hallmark (90%) Very frequent (99-80%) HP:0002984
18 cupped ear 56 32 hallmark (90%) Very frequent (99-80%) HP:0000378
19 low-set ears 32 HP:0000369
20 micropenis 32 HP:0000054
21 choanal atresia 32 HP:0000453
22 cryptorchidism 32 HP:0000028
23 pectus excavatum 32 HP:0000767
24 syndactyly 32 HP:0001159
25 radioulnar synostosis 32 HP:0002974
26 congenital hip dislocation 32 HP:0001374
27 postnatal growth retardation 32 HP:0008897
28 short thumb 32 HP:0009778
29 ectropion 32 HP:0000656
30 supernumerary vertebrae 32 HP:0002946
31 pyloric stenosis 32 HP:0002021
32 midgut malrotation 32 HP:0005211
33 malformation of the heart and great vessels 56 Frequent (79-30%)
34 abnormality of the foot 32 HP:0001760
35 abnormality of the kidney 32 HP:0000077
36 cleft upper lip 32 HP:0000204
37 abnormality of cardiovascular system morphology 32 frequent (33%) HP:0030680
38 abnormality of the middle ear 56 Frequent (79-30%)
39 conical tooth 32 HP:0000698

Drugs & Therapeutics for Miller Syndrome

Drugs for Miller Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 219)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Ezetimibe Approved Phase 4 163222-33-1 150311
2
Simvastatin Approved Phase 4 79902-63-9 54454
3
Bezafibrate Approved Phase 4 41859-67-0 39042
4 Anticholesteremic Agents Phase 4,Phase 2
5 Antimetabolites Phase 4,Phase 3,Phase 2,Phase 1
6 Ezetimibe, Simvastatin Drug Combination Phase 4
7 Hydroxymethylglutaryl-CoA Reductase Inhibitors Phase 4,Phase 2
8 Hypolipidemic Agents Phase 4,Phase 2
9 Lipid Regulating Agents Phase 4,Phase 2
10
Benzocaine Approved Phase 3 1994-09-7, 94-09-7 2337
11
Lenograstim Approved Phase 3,Phase 2 135968-09-1
12
Methylprednisolone Approved, Vet_approved Phase 2, Phase 3 83-43-2 6741
13
Mycophenolate mofetil Approved, Investigational Phase 2, Phase 3 128794-94-5 5281078
14
Mycophenolic acid Approved Phase 2, Phase 3 24280-93-1 446541
15
Prednisolone Approved, Vet_approved Phase 2, Phase 3 50-24-8 5755
16
Tacrolimus Approved, Investigational Phase 2, Phase 3 104987-11-3 445643 439492
17
Baclofen Approved Phase 3 1134-47-0 2284
18
Asparaginase Approved Phase 3,Phase 1 9015-68-3
19
Cytarabine Approved, Investigational Phase 3,Phase 1 147-94-4 6253
20
Daunorubicin Approved Phase 3 20830-81-3 30323
21
Etoposide Approved Phase 3 33419-42-0 36462
22
Thioguanine Approved Phase 3 154-42-7 2723601
23
Hydrocortisone Approved, Vet_approved Phase 3 50-23-7 5754 657311
24
Methotrexate Approved Phase 3,Phase 2 1959-05-2, 59-05-2 126941
25
Capecitabine Approved, Investigational Phase 3 154361-50-9 60953
26
Cyclophosphamide Approved, Investigational Phase 3,Phase 2,Phase 1 50-18-0, 6055-19-2 2907
27
Prednisone Approved, Vet_approved Phase 3 53-03-2 5865
28
Mitoxantrone Approved, Investigational Phase 3,Phase 1 65271-80-9 4212
29
Lenalidomide Approved Phase 3,Phase 1,Phase 2 191732-72-6 216326
30
Clofarabine Approved, Investigational Phase 3 123318-82-1 119182
31
Dexamethasone Approved, Investigational, Vet_approved Phase 3 50-02-2 5743
32
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
33
Levoleucovorin Approved Phase 3 68538-85-2
34
Pegaspargase Approved, Investigational Phase 3 130167-69-0
35
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
36
Ethanol Approved Phase 3 64-17-5 702
37
Cobicistat Approved Phase 2, Phase 3 1004316-88-4
38
Emtricitabine Approved, Investigational Phase 2, Phase 3 143491-57-0 60877
39
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
40
Dactinomycin Approved Phase 3 50-76-0 2019 457193
41
Cortisone acetate Approved Phase 3 1950-04-4, 50-04-4 5745
42
Dasatinib Approved, Investigational Phase 3 302962-49-8 3062316
43 tannic acid Approved, Nutraceutical Phase 3
44
Folic Acid Approved, Nutraceutical, Vet_approved Phase 3,Phase 2 59-30-3 6037
45
leucovorin Approved, Nutraceutical Phase 3,Phase 2 58-05-9 143 6006
46
Pyridoxal Approved, Nutraceutical Phase 3 66-72-8 1050
47
Pyridoxine Approved, Nutraceutical, Vet_approved Phase 3 65-23-6 1054
48
Ginseng Approved, Nutraceutical Phase 3 50647-08-0
49 Strawberry Approved, Nutraceutical Phase 3
50
Butyric Acid Experimental Phase 3 107-92-6 264

Interventional clinical trials:

(show top 50) (show all 98)

id Name Status NCT ID Phase Drugs
1 Simvastatin With or Without Ezetimibe and Atherothrombotic Biomarker Assessment Completed NCT00819403 Phase 4 simvastatin;ezetimibe/simvastatin
2 Bezafibrate for Hyperfibrinogenemia in Acute Myocardial Infarction Completed NCT02291796 Phase 4 Bezafibrate
3 Coronary CT Angiography in Acute Chest Pain is a Cost Effective Risk Stratification Strategy Unknown status NCT00825435 Phase 3
4 Erythropoietin (EPO)+/- Filgrastim (G-CSF) vs. Supportive Therapy Alone for Patients With Myelodysplastic Syndromes Completed NCT00003138 Phase 3
5 Myfortic vs. Cellcept in Kidney Transplant Recipients Completed NCT00533624 Phase 2, Phase 3 Mycophenolate Sodium Delayed Release Tablets;Mycophenolate Mofetil
6 Efficacy and Safety Study of STX209 (Arbaclofen) for Social Withdrawal in Adolescents and Adults With Fragile X Syndrome Completed NCT01282268 Phase 3 arbaclofen;placebo
7 Efficacy and Safety Study of STX209 (Arbaclofen) for the Treatment of Social Withdrawal in Children With Fragile X Syndrome Completed NCT01325220 Phase 3 arbaclofen;arbaclofen;arbaclofen;Placebo
8 Combination Chemotherapy in Treating Young Patients With Down Syndrome and Acute Myeloid Leukemia or Myelodysplastic Syndromes Completed NCT00369317 Phase 3 asparaginase;daunorubicin hydrochloride;cytarabine;thioguanine;etoposide
9 Chemotherapy in Treating Children With Down Syndrome and Myeloproliferative Disorder, Acute Myelogenous Leukemia, or Myelodysplastic Syndrome Completed NCT00003593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;methotrexate;therapeutic hydrocortisone;thioguanine
10 Pyridoxine and Topical Urea/Lactic Acid-Based Cream in Preventing Hand-Foot Syndrome in Patients Receiving Capecitabine for Breast Cancer or Other Cancer Completed NCT00296036 Phase 3 urea/lactic acid-based topical cream
11 Cyclophosphamide and Prednisone With or Without Immunoglobulin in Treating Abnormal Muscle Movement in Children With Neuroblastoma Completed NCT00033293 Phase 3 cyclophosphamide;prednisone;Corticotropin-Releasing Hormone
12 A Study to Evaluate Efficacy and Safety of Bitopertin in Participants With Persistent, Predominant Negative Symptoms of Schizophrenia Completed NCT01192880 Phase 3 Placebo;Bitopertin;Antipsychotics
13 Combination Chemotherapy With or Without Gemtuzumab in Treating Young Patients With Newly Diagnosed Acute Myeloid Leukemia Completed NCT00372593 Phase 3 asparaginase;cytarabine;daunorubicin hydrochloride;etoposide;gemtuzumab ozogamicin;mitoxantrone hydrochloride
14 Bioequivalence Study to Evaluate the Pharmacokinetics, Safety, and Tolerability of Gammaplex® 10 and Gammaplex® 5% in Primary Immunodeficiency Diseases Completed NCT01963143 Phase 3
15 American Ginseng in Treating Patients With Fatigue Caused by Cancer Completed NCT00719563 Phase 3 American ginseng
16 SGA-induced Metabolic Syndrome in Bipolar Youth Recruiting NCT01858948 Phase 3 Omega;Placebo;Quetiapine fumarate
17 Cardiovascular Inflammation Reduction Trial Recruiting NCT01594333 Phase 3 Methotrexate;Placebo
18 Risk-Adapted Chemotherapy in Treating Younger Patients With Newly Diagnosed Standard-Risk Acute Lymphoblastic Leukemia or Localized B-Lineage Lymphoblastic Lymphoma Recruiting NCT01190930 Phase 3 Cyclophosphamide;Cytarabine;Dexamethasone;Doxorubicin Hydrochloride;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Thioguanine;Vincristine Sulfate
19 GWPCARE2 A Study to Investigate the Efficacy and Safety of Cannabidiol (GWP42003-P) in Children and Young Adults With Dravet Syndrome Recruiting NCT02224703 Phase 3 GWP42003-P;Placebo Control
20 Crossover Study to Assess the Efficacy and Safety of UX007 in the Treatment of Movement Disorders Associated With Glucose Transporter Type 1 Deficiency Syndrome (Glut1 DS) Recruiting NCT02960217 Phase 3 UX007;Placebo
21 Lenalidomide With or Without Epoetin Alfa in Treating Patients With Myelodysplastic Syndrome and Anemia Active, not recruiting NCT00843882 Phase 3 Lenalidomide
22 Pharmacokinetics, Safety, and Antiviral Activity of the Elvitegravir/Cobicistat/Emtricitabine/Tenofovir Alafenamide (E/C/F/TAF) Single Tablet Regimen (STR) in HIV-1 Infected Antiretroviral Treatment-Naive Adolescents and Virologically Suppressed Children Active, not recruiting NCT01854775 Phase 2, Phase 3 E/C/F/TAF
23 Combination Chemotherapy and Surgery in Treating Young Patients With Wilms Tumor Active, not recruiting NCT00945009 Phase 3 Doxorubicin Hydrochloride;Vincristine Sulfate;Carboplatin;Cyclophosphamide;Etoposide Phosphate
24 Combination Chemotherapy in Treating Young Patients With Newly Diagnosed High-Risk B Acute Lymphoblastic Leukemia and Ph-Like TKI Sensitive Mutations Suspended NCT02883049 Phase 3 Clofarabine;Cyclophosphamide;Cytarabine;Dasatinib;Dexamethasone;Doxorubicin Hydrochloride;Etoposide;Hydrocortisone Sodium Succinate;Leucovorin Calcium;Mercaptopurine;Methotrexate;Pegaspargase;Prednisone;Thioguanine;Vincristine Sulfate
25 Trenev Trio/Healthy Trinity for Symptoms of Diarrhea-predominant Irritable Bowel Syndrome (IBS) and Functional Dyspepsia Terminated NCT01268618 Phase 2, Phase 3
26 Effects of Human Leptin Replacement Unknown status NCT00657605 Phase 2 Recombinant methionyl human leptin
27 Randomized Evaluation of Octreotide Versus Compazine for Emergency Department Treatment of Migraine Headache Unknown status NCT00274170 Phase 1, Phase 2 Octreotide
28 An Efficacy, Safety, and Pharmacokinetics Study of Beloranib in Obese Subjects With Prader-Willi Syndrome Completed NCT01818921 Phase 2 ZGN-440 sterile diluent;1.2 mg ZGN-440 for injectable suspension;1.8 mg ZGN-440 for injectable suspension
29 Centralized Cord Blood Registry to Facilitate Unrelated Cord Blood Transplantation Completed NCT00737516 Phase 2
30 Hyperbaric Oxygen Therapy (HBO2) for Persistent Post-concussive Symptoms After Mild Traumatic Brain Injury (mTBI) Completed NCT01306968 Phase 2 hyperbaric oxygen
31 Amifostine in Treating Young Patients With Newly Diagnosed De Novo Myelodysplastic Syndromes Completed NCT00098683 Phase 2 amifostine trihydrate
32 Post Transplant Donor Lymphocyte Infusion Completed NCT00167180 Phase 2 Induction Chemotherapy
33 CJD (Creutzfeldt-Jakob Disease) Quinacrine Study Completed NCT00183092 Phase 2 Quinacrine;Placebo
34 Lenalidomide in Treating Patients With AIDS-Associated Kaposi's Sarcoma Completed NCT01057121 Phase 1, Phase 2 Lenalidomide
35 A Randomized, Comparative Trial of Zidovudine (AZT) Versus 2',3'-Didehydro-3'-Deoxythymidine (Stavudine; d4T) in Children With HIV Infection Completed NCT00000789 Phase 2 Stavudine;Zidovudine
36 Intranasal Oxytocin for Infants With Prader-Willi Syndrome Recruiting NCT03245762 Phase 1, Phase 2 Oxytocin;Placebo
37 A Phase I/II Study of OPN-305 in Second-line Lower Risk Myelodysplastic Syndrome Recruiting NCT02363491 Phase 1, Phase 2 OPN-305
38 IL-15 Super Agonist ALT-803 to Treat Relapse Of Hematologic Malignancy After Allogeneic SCT Recruiting NCT01885897 Phase 1, Phase 2
39 Safety and Efficacy Study of CC-486 and Durvalumab in Subjects With Myelodysplastic Syndromes Recruiting NCT02281084 Phase 2 CC-486 (ORAL AZACITIDINE);Durvalumab
40 MT2013-31: Allo HCT for Metabolic Disorders and Severe Osteopetrosis Recruiting NCT02171104 Phase 2 IMD Preparative Regimen;Osteopetrosis Only Preparative Regimen;Osteopetrosis Haploidentical Only Preparative Regimen;cALD SR-A (Standard-Risk, Regimen A);cALD SR-B (Standard-Risk, Regimen B);cALD HR-D (High-Risk, Regimen C);cALD HR-D (High-Risk, Regimen D)
41 An Efficacy and Safety Study of Pevonedistat Plus Azacitidine Versus Single-Agent Azacitidine in Participants With Higher-Risk Myelodysplastic Syndromes (HR MDS), Chronic Myelomonocytic Leukemia (CMML) and Low-Blast Acute Myelogenous Leukemia (AML) Active, not recruiting NCT02610777 Phase 2 Azacitidine;Pevonedistat
42 Donor Stem Cell Transplant in Treating Young Patients With Acute Myeloid Leukemia With Monosomy 7, -5/5q-, High FLT3-ITD AR, or Refractory or Relapsed Acute Myelogenous Leukemia Active, not recruiting NCT00553202 Phase 2 busulfan;cyclophosphamide;cyclosporine;methotrexate;methylprednisolone;tacrolimus
43 Intravenous Infusion of Umbilical Cord Tissue (UC) Derived Mesenchymal Stem Cells (MSCs) Versus Bone Marrow (BM) Derived MSCs to Evaluate Cytokine Suppression in Patients With Chronic Inflammation Due to Metabolic Syndrome. Not yet recruiting NCT03059355 Phase 1, Phase 2
44 Statin Monotherapy for Treatment of Endocrine Metabolic Disease Risk Not yet recruiting NCT03113994 Phase 2 Rosuvastatin Calcium;Placebo Oral Tablet
45 Topical Capsaicin for Cyclical Vomiting Not yet recruiting NCT03223350 Phase 2 Capsaicin 0.075% Cream;Placebos
46 Donor Umbilical Cord Blood Natural Killer Cells, Aldesleukin and Umbilical Cord Blood Transplant in Patients With Refractory Hematologic Cancers. Terminated NCT00354172 Phase 2 cyclophosphamide;cyclosporine;fludarabine phosphate;methylprednisolone;mycophenolate mofetil
47 Blood Sugar Take Care and Glucose Metabolism Withdrawn NCT01554020 Phase 2
48 Clinical Study to Determine Safety and Effectiveness of KEEPASLEEP Device in Simple Snorers. Unknown status NCT00211627 Phase 1
49 Oxytocin Trial in Prader-Willi Syndrome Completed NCT02013258 Phase 1 Intranasal oxytocin
50 A Comparison Between Two Video Laryngoscopes,in Successfully Intubating Pediatric Mannequins w/wo Difficult Airways Completed NCT02198742 Phase 1

Search NIH Clinical Center for Miller Syndrome

Genetic Tests for Miller Syndrome

Genetic tests related to Miller Syndrome:

id Genetic test Affiliating Genes
1 Miller Syndrome 29
2 Postaxial Acrofacial Dysostosis 24 DHODH

Anatomical Context for Miller Syndrome

MalaCards organs/tissues related to Miller Syndrome:

39
Bone, Eye, Heart, Myeloid, Kidney, Bone Marrow, Brain

Publications for Miller Syndrome

Articles related to Miller Syndrome:

id Title Authors Year
1
Elevated plasma dihydroorotate in Miller syndrome: Biochemical, diagnostic and clinical implications, and treatment with uridine. ( 27370710 )
2016
2
Protein instability and functional defects caused by mutations of dihydro-orotate dehydrogenase in Miller syndrome patients. ( 22967083 )
2012
3
Miller syndrome with novel dihydroorotate dehydrogenase gene mutations. ( 21851494 )
2011
4
Extra phenotypic features in a girl with Miller syndrome. ( 21346561 )
2011
5
Miller syndrome (postaxial acrofacial dysostosis): further evidence for autosomal recessive inheritance and expansion of the phenotype. ( 1941965 )
1991
6
Postaxial acrofacial dysostosis (Miller) syndrome: a new case. ( 1683410 )
1991
7
Postaxial acrofacial dysostosis or Miller syndrome. A case report. ( 2920751 )
1989
8
Postaxial acrofacial dysostosis (Miller) syndrome. ( 3612717 )
1987

Variations for Miller Syndrome

UniProtKB/Swiss-Prot genetic disease variations for Miller Syndrome:

71
id Symbol AA change Variation ID SNP ID
1 DHODH p.Gly19Glu VAR_062412 rs267606765
2 DHODH p.Arg135Cys VAR_062413 rs201230446
3 DHODH p.Gly152Arg VAR_062414 rs267606766
4 DHODH p.Arg199Cys VAR_062415 rs267606769
5 DHODH p.Gly202Ala VAR_062416 rs267606767
6 DHODH p.Gly202Asp VAR_062417 rs267606767
7 DHODH p.Arg244Trp VAR_062418 rs267606768
8 DHODH p.Thr284Ile VAR_062419
9 DHODH p.Arg346Trp VAR_062420 rs201947120
10 DHODH p.Asp392Gly VAR_062421 rs779076692

ClinVar genetic disease variations for Miller Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 DHODH NM_001361.4(DHODH): c.1036C> T (p.Arg346Trp) single nucleotide variant Pathogenic rs201947120 GRCh37 Chromosome 16, 72057435: 72057435
2 DHODH NM_001361.4(DHODH): c.403C> T (p.Arg135Cys) single nucleotide variant Pathogenic/Likely pathogenic rs201230446 GRCh37 Chromosome 16, 72048540: 72048540
3 DHODH NM_001361.4(DHODH): c.454G> A (p.Gly152Arg) single nucleotide variant Pathogenic rs267606766 GRCh37 Chromosome 16, 72050942: 72050942
4 DHODH NM_001361.4(DHODH): c.605G> C (p.Gly202Ala) single nucleotide variant Pathogenic rs267606767 GRCh37 Chromosome 16, 72055110: 72055110
5 DHODH NM_001361.4(DHODH): c.605G> A (p.Gly202Asp) single nucleotide variant Pathogenic rs267606767 GRCh37 Chromosome 16, 72055110: 72055110
6 DHODH NM_001361.4(DHODH): c.730C> T (p.Arg244Trp) single nucleotide variant Pathogenic rs267606768 GRCh37 Chromosome 16, 72056285: 72056285
7 DHODH DHODH, 1-BP DEL, 611T deletion Pathogenic
8 DHODH NM_001361.4(DHODH): c.595C> T (p.Arg199Cys) single nucleotide variant Pathogenic rs267606769 GRCh37 Chromosome 16, 72055100: 72055100

Expression for Miller Syndrome

Search GEO for disease gene expression data for Miller Syndrome.

Pathways for Miller Syndrome

GO Terms for Miller Syndrome

Biological processes related to Miller Syndrome according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 blood coagulation GO:0007596 8.96 PLAT THBD
2 female pregnancy GO:0007565 8.62 DHODH THBD

Sources for Miller Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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