SAMS
MCID: SHR109
MIFTS: 35

Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (SAMS)

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

Aliases & Classifications for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

MalaCards integrated aliases for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

Name: Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 57 29 6
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 57 72 70
Sams 57 72
Short Stature-Auditory Canal Atresia-Mandibular Hypoplasia-Skeletal Anomalies Syndrome 58
Stature, Short, Auditory Canal Atresia, Mandibular Hypoplasia, Skeletal Abnormalities 39
Sams Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset at birth


HPO:

31
short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

Orphanet: 58  
Rare otorhinolaryngological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

UniProtKB/Swiss-Prot : 72 Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities: An autosomal recessive developmental disorder with features of a first and second branchial arch syndrome, and with unique rhizomelic skeletal anomalies. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Skeletal features include bilateral humeral hypoplasia, humeroscapular synostosis, pelvic abnormalities, and proximal defects of the femora. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes.

MalaCards based summary : Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities, also known as short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, is related to cobb syndrome and synostosis. An important gene associated with Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities is GSC (Goosecoid Homeobox). The drugs Propranolol and Neurotransmitter Agents have been mentioned in the context of this disorder. Affiliated tissues include prostate, eye and testes, and related phenotypes are high palate and short stature

OMIM® : 57 Short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities (SAMS) is an autosomal recessive multiple congenital anomaly syndrome with features of a first and second branchial arch syndrome. Craniofacial abnormalities can lead to conductive hearing loss, respiratory insufficiency, and feeding difficulties. Additional features include rhizomelic skeletal anomalies as well as abnormalities of the shoulder and pelvic joints. Affected individuals may also have some features of a neurocristopathy or abnormal mesoderm development, such as urogenital anomalies, that are distinct from other branchial arch syndromes (summary by Parry et al., 2013). (602471) (Updated 20-May-2021)

Related Diseases for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Diseases related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 20)
# Related Disease Score Top Affiliating Genes
1 cobb syndrome 11.3
2 synostosis 10.6
3 prostate cancer 10.1
4 multiple sclerosis 10.0
5 aging 10.0
6 sleep apnea 10.0
7 myopathy 10.0
8 hair whorl 9.9
9 hypertension, essential 9.9
10 migraine with or without aura 1 9.9
11 metabolic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration 9.9
12 heart and brain malformation syndrome 9.9
13 helix syndrome 9.9
14 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 9.9
15 ptosis 9.9
16 influenza 9.9
17 cluster headache 9.9
18 dwarfism 9.9
19 hemicrania continua 9.9
20 headache 9.9

Graphical network of the top 20 diseases related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:



Diseases related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities

Symptoms & Phenotypes for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Human phenotypes related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

31 (show all 22)
# Description HPO Frequency HPO Source Accession
1 high palate 31 HP:0000218
2 short stature 31 HP:0004322
3 flexion contracture 31 HP:0001371
4 cryptorchidism 31 HP:0000028
5 micrognathia 31 HP:0000347
6 talipes equinovarus 31 HP:0001762
7 downslanted palpebral fissures 31 HP:0000494
8 narrow mouth 31 HP:0000160
9 conductive hearing impairment 31 HP:0000405
10 deeply set eye 31 HP:0000490
11 hip dislocation 31 HP:0002827
12 malar flattening 31 HP:0000272
13 hypotelorism 31 HP:0000601
14 atresia of the external auditory canal 31 HP:0000413
15 preauricular pit 31 HP:0004467
16 feeding difficulties 31 HP:0011968
17 hypoplastic scapulae 31 HP:0000882
18 dislocated radial head 31 HP:0003083
19 rhizomelia 31 HP:0008905
20 short humerus 31 HP:0005792
21 scapulohumeral synostosis 31 HP:0006595
22 delayed ossification of pubic rami 31 HP:0008785

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Height:
short stature

Head And Neck Face:
micrognathia
mandibular hypoplasia
malar hypoplasia

Head And Neck Eyes:
hypotelorism
downslanting palpebral fissures
deep-set eyes

Skeletal Limbs:
rhizomelic shortening
radial head dislocation
bilateral humeral hypoplasia

Head And Neck Ears:
hearing loss, conductive
atretic external auditory canal
preauricular pits
abnormal middle ear ossicles
dysplastic pinnae

Skeletal Skull:
mandibular hypoplasia

Skeletal:
contractures

Genitourinary External Genitalia Male:
lack of testes
lack of scrotal sac

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal Pelvis:
hip dislocation
delayed ossification of pubic rami
narrow sacrosciatic notches
absence of pubic bones

Abdomen Gastrointestinal:
feeding difficulties

Head And Neck Mouth:
high-arched palate
small mouth

Neurologic Central Nervous System:
normal intelligence

Skeletal Feet:
clubfoot

Chest Ribs Sternum Clavicles And Scapulae:
scapular hypoplasia
humero-scapulo synostosis
shortening of the clavicles

Clinical features from OMIM®:

602471 (Updated 20-May-2021)

Drugs & Therapeutics for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Drugs for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 124)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational Phase 4 525-66-6 4946
2 Neurotransmitter Agents Phase 4
3 Anti-Arrhythmia Agents Phase 4
4 Vasodilator Agents Phase 4
5 Adrenergic Antagonists Phase 4
6 Adrenergic beta-Antagonists Phase 4
7 Adrenergic Agents Phase 4
8 Antihypertensive Agents Phase 4
9
Citalopram Approved Phase 2, Phase 3 59729-33-8 2771
10
Dexetimide Withdrawn Phase 2, Phase 3 21888-98-2
11 Psychotropic Drugs Phase 2, Phase 3
12 Serotonin Uptake Inhibitors Phase 2, Phase 3
13 Antidepressive Agents Phase 2, Phase 3
14
Serotonin Investigational, Nutraceutical Phase 2, Phase 3 50-67-9 5202
15
L-Alanine Nutraceutical Phase 3 56-41-7 5950
16
Metronidazole Approved Phase 2 443-48-1 4173
17
Ceftriaxone Approved Phase 2 73384-59-5 5479530 5361919
18
Methylcobalamin Approved, Investigational Phase 2 13422-55-4
19
Donepezil Approved Phase 2 120014-06-4 3152
20
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
21
Acetylcarnitine Approved, Investigational Phase 2 3040-38-8 7045767
22
Acetylcysteine Approved, Investigational Phase 2 616-91-1 12035
23
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
24
Tocopherol Approved, Investigational Phase 2 1406-66-2
25
rituximab Approved Phase 2 174722-31-7 10201696
26
Vitamin A Approved, Nutraceutical, Vet_approved Phase 2 68-26-8, 11103-57-4 445354
27
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
28
Methionine Approved, Nutraceutical Phase 2 63-68-3 6137
29
Vitamin E Approved, Nutraceutical, Vet_approved Phase 2 59-02-9 14985
30
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
31
Cysteine Approved, Nutraceutical Phase 2 52-90-4 5862
32
Cobalamin Experimental Phase 2 13408-78-1 6857388
33 Tocotrienol Investigational Phase 2 6829-55-6
34 Anti-Infective Agents Phase 2
35 Antiparasitic Agents Phase 2
36 Liver Extracts Phase 2
37 Antiprotozoal Agents Phase 2
38 Anti-Bacterial Agents Phase 1, Phase 2
39 Antibiotics, Antitubercular Phase 1, Phase 2
40 Immunologic Factors Phase 2
41 Cholinesterase Inhibitors Phase 2
42 Cholinergic Agents Phase 2
43 Nootropic Agents Phase 2
44 Retinol palmitate Phase 2
45 retinol Phase 2
46 Immunoglobulins Phase 2
47 Antibodies Phase 2
48 Vitamin B Complex Phase 2
49 Folate Phase 2
50 Vitamin B9 Phase 2

Interventional clinical trials:

(show top 50) (show all 81)
# Name Status NCT ID Phase Drugs
1 A Multi-center, Double Blinded Randomized Controlled Trial Evaluating Closure of the Dead Space After Mastectomy Using Sutures or Tissue Glue Versus Conventional Closure. Protocol for the Seroma Reduction After Mastectomy (SAM) Trial Completed NCT03305757 Phase 4 Artiss
2 Golfer's Cramp: Correlation of Wrist Movements and Surface EMG With Putter Movements Completed NCT02032758 Phase 4 Propranolol
3 Performance of Junctional Tourniquets in Normal Human Volunteers Completed NCT01965561 Phase 4
4 SAM-e Treatment of Depression in Parkinson's Disease. Completed NCT00070941 Phase 2, Phase 3 SAM-e;oral escitalopram;placebo
5 A Randomized Double-Blind, Placebo-Controlled Study Of The Effects Of MPX Capsules On Rising Prostate-Specific Antigen Levels In Alanine/Alanine SOD2 Genotype Men Following Initial Therapy For Prostate Cancer Recruiting NCT03535675 Phase 3 Muscadine Plus;Placebos
6 Pharmacokinetics of Antimicrobials and Carriage of Antimicrobial Resistance Amongst Hospitalised Children With Severe Acute Malnutrition Unknown status NCT02746276 Phase 2 Ceftriaxone;Metronidazole
7 A Randomized, Double-blind, Placebo-controlled, Safety, Tolerability, Pharmacokinetics (PK), Pharmacodynamics (PD) Trial of Multiple Ascending Fixed Doses of SAM-531 in Subjects With Mild to Moderate Alzheimer's Disease. Completed NCT00481520 Phase 2 SAM-531
8 Double-Blind, Placebo-Controlled Trial of the Impact of S-Adenosyl-L-Methionine (SAM-e) on the Mood and Other Symptoms in Fibromyalgia Completed NCT00528710 Phase 2
9 A Phase II Clinical Trial of a Vitamin/Nutriceutical Formulation for Alzheimer's Disease Completed NCT01320527 Phase 2
10 Microbiota Directed Complementary Food (MDCF) Post-SAM MAM Trial Recruiting NCT04015986 Phase 2
11 Xenodiagnosis After Antibiotic Treatment for Lyme Disease - Phase II Study Recruiting NCT02446626 Phase 1, Phase 2
12 A 52-Week, Two-Period, Multicenter, Randomized, Double-Blind, Donepezil-Referenced, Placebo-Controlled, Efficacy And Safety Study Of 3 Dosage Levels Of SAM-531 In Outpatients With Mild To Moderate Alzheimer Disease Terminated NCT00895895 Phase 2 Placebo;SAM-531 1.5 mg;SAM-531 3.0 mg;SAM-531 5.0 mg;Donepezil
13 A Randomized, 18-week, Placebo-controlled, Double-blind, Parallel Group Study Of The Safety And Efficacy Of Pf-05212377 (Sam-760) In Subjects With Mild-to-moderate Alzheimer's Disease With Existing Neuropsychiatric Symptoms On A Stable Daily Dose Of Donepezil Terminated NCT01712074 Phase 2 PF-05212377 (SAM-760)
14 Nutriceutical Effects on Cognitive Status in Mild Cognitive Impairment Patients Terminated NCT00903695 Phase 2 Memory XL;placebo
15 A Phase II Open-Label, Multicenter Trial of Oral Tazemetostat in Combination With Rituximab in Subjects With Relapsed/Refractory Follicular Lymphoma Terminated NCT04590820 Phase 2 Tazemetostat;Rituximab
16 Ascending Single Dose Study Of The Safety, Tolerability And Pharmacokinetics Of SAM-760 Administered Orally To Healthy Young And Healthy Elderly Subjects Completed NCT00948662 Phase 1 SAM-760;Placebo of SAM-760;ketoconazole
17 Safety, Tolerability, and Pharmacokinetics, of Single and Multiple Dose of SAM-531 Administered Orally To Healthy Young and Elderly Subjects Completed NCT00726115 Phase 1 SAM-531;placebo
18 A Phase 1, Open-Label Study To Evaluate 5-Ht6 Receptor Occupancy As Measured By Positron Emission Tomography (PET) With Ligand [11c]PF-04171252 Following Single Oral Dose Administration Of PF-05212377 (Sam-760) In Healthy Subjects Completed NCT01258751 Phase 1 PF-05212377
19 A Randomized, Double-Blind, Sponsor Unblinded, Placebo Controlled, 5-Way, Crossover Study To Evaluate The Effects Of Single Oral Administrations of PF-05212377 (SAM-760), A 5-HT6 Antagonist, On Scopolamine Induced Deficits In Psychomotor And Cognitive Function In Healthy Young Adults Completed NCT01213355 Phase 1 Placebo;Scopolamine;PF-05212377;Scopolamine;PF-05212377;scopolamine;PF-05212377;scopolamine;Donepezil;Scopolamine
20 A Double-Blind, Placebo-Controlled, Balanced, 4-Way, Incomplete Block Design to Evaluate the Effects of a Single Administration of SAM-531 on Sleep Electroencephalogram (EEG) and Quantitative Wake EEG (qEEG) in Healthy Subjects Completed NCT00519298 Phase 1 SAM-531;Donepezil
21 An Open-label, Nonrandomized Study to Evaluate the Potential Pharmacokinetic Interaction Between Multiple Doses of Verapamil Immediate Release (IR) and a Single Dose of SAM-531 When Co-administered Orally to Healthy Young Adult Subjects Completed NCT00745576 Phase 1 SAM-531
22 Ascending Single Dose Study of the Safety, Tolerability, Pharmacokinetics (PK), and Pharmacodynamics (PD) of SAM-315 Administered Orally to Healthy Japanese Male Subjects Completed NCT00480467 Phase 1 SAM-315
23 A Phase 1, Open-Label Study To Evaluate 5-HT6 Receptor Occupancy As Measured By Positron Emission Tomography (PET) With Ligand [11C]PF-04171252 Following Single Oral Dose Administration Of PF-05212365 (SAM-531) In Healthy Subjects Completed NCT01253655 Phase 1 PF-05212365
24 An Open-Label, Single-Dose, Nonrandomized Study Of The Mass Balance And Metabolic Disposition Of Orally Administered 14C-Labeled SAM-531 In Healthy Male Subjects Completed NCT00906191 Phase 1 SAM-531
25 Sustained Acoustic Medicine (SAM) Combined With a Diclofenac Ultrasound Coupling Patch for Knee Osteoarthritis Completed NCT04391842 Phase 1
26 An Ascending Multiple Dose Study of the Safety, Pharmacokinetics (PK), and Pharmacodynamics (PD) of SAM-531 Administered Orally to Healthy Young and Elderly Subjects Completed NCT00480818 Phase 1 SAM-531
27 An Open-Label, Nonrandomized Study To Evaluate The Potential Pharmacokinetic Interaction Between SAM-531 and Gemfibrozil, A Cytochrome P-450 2C8 Inhibitor, When Coadministered Orally To Healthy Young Adult Subjects Completed NCT00966966 Phase 1 SAM-531 and gemfibrozil
28 A Randomized Investigator And Subject-Blind, Sponsor Open, Placebo Controlled Phase 1 Study To Characterize The Safety, Tolerability, And Pharmacokinetics Of Ascending Multiple Doses Of PF-05212377 (SAM-760) Administered Orally To Healthy Young And Elderly Subjects Completed NCT01159496 Phase 1 PF-05212377 (SAM-760);Placebo
29 A Phase 1, Open-Label Study To Evaluate 5-HT2a Receptor Occupancy As Measured By Positron Emission Tomography (PET) With Ligand [11C]MDL100907 Following Single Oral Dose Administration Of PP-05212377 (SAM-760) In Healthy Subjects Completed NCT02005991 Phase 1 PF-05212377;PF-05212377;PF-05212377
30 Ascending Single Dose Study of the Safety, Tolerability, Pharmacokinetics (PK), and Pharmacodynamics (PD) of SAM-531 Administered Orally to Healthy Japanese Male Subjects Completed NCT00479297 Phase 1 SAM-531
31 Ascending Single Dose Study of the Safety, Tolerability, Pharmacokinetics (PK), and Pharmacodynamics (PD) of SAM-531 Administered Orally to Healthy Subjects Completed NCT00479700 Phase 1 SAM-531
32 Ascending Single Dose Study of the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SAM-315 Administered Orally to Healthy Adult Subjects Completed NCT00479440 Phase 1 SAM-315
33 An Ascending Multiple Dose Study of the Safety, Pharmacokinetics (PK), and Pharmacodynamics (PD) of SAM-531 Administered Orally to Healthy Japanese Young Male and Elderly Subjects Completed NCT00479349 Phase 1 SAM-531
34 Safety and Immunogenicity of GSK's Rabies G SAM (CNE) Vaccine [GSK3903133A] in Healthy Adults. Recruiting NCT04062669 Phase 1 Saline Placebo
35 A Phase I, First-Time-in Human (FTiH), Open-label, Dose Escalation, Non-randomized Study to Assess Safety, Reactogenicity and Immune Response of a CoV-2 SAM (LNP) Vaccine When Administered Intramuscularly on a 0, 1 Month Schedule in Healthy Adults 18 to 50 Years of Age Recruiting NCT04758962 Phase 1
36 A Phase 1 Trial to Evaluate the Safety, Immunogenicity, and Reactogenicity of Heterologous and Homologous Chimpanzee Adenovirus and Self-Amplifying mRNA Prime-Boost Prophylactic Vaccines Against SARS-CoV-2 in Healthy Adults Recruiting NCT04776317 Phase 1
37 Phase I Study of Escalated Pharmacologic Dose, of Oral Folinic Acid in Combination With Temozolomide, According to Stupp R. Regimen, in Patients With Operated Grade-IV Astocytoma and a Non-methylated Gene Status of MGMT. Recruiting NCT01700569 Phase 1 Temozolomide;folinic acid at pharmacological dose is the escalated drug
38 A Phase I, Single-blind, Randomised, Placebo-controlled, Dose Escalation Study to Evaluate the Reactogenicity, Safety and Immune Response of gE/gI SAM (LNP) Vaccine in Healthy Participants Aged 18-40 Years Recruiting NCT04762511 Phase 1 Placebo (saline)
39 An Ascending Multiple-Dose Study of the Safety, Tolerability, Pharmacokinetics, and Pharmacodynamics of SAM-315 Administered Orally to Healthy Young Adult and Elderly Subjects Terminated NCT00474552 Phase 1 SAM-315
40 Transfer of Healthy Gut Flora for Restoration of Intestinal Microbiota Via Enema (THRIVE) for Patients in the Rehabilitative Phase of Malnutrition: A Pilot Study Evaluating Microbial Engraftment, Safety and Nutritional Outcomes Terminated NCT03087097 Phase 1
41 Pressure Ulcer Incidence Cat. II+ on the CuroCell SAM® PRO Static Air Mattress: a Multicenter Cohort Study in Nursing Home Residents at Risk Unknown status NCT03725787
42 Comparison of a Locally Produced RUTF With a Commercial RUTF in the Treatment of SAM in Cambodia Unknown status NCT02907424
43 Compare the Results for the Extended Myoectomy and Standard Morrow's Myoectomy in Patients With Ventricular Obstruction of the Left Ventricular Output Unknown status NCT02492399
44 Pain Control in Breast Surgery: Analgesia, Opioid Consumption and Inflammatory Response Evaluation Unknown status NCT02647385 Block with lidocaine for SAM and PEC I block
45 Transversus Abdominis Plane Block Versus Wound Infiltration for Analgesia After Cesarean Delivery: A Randomized Controlled Trial Unknown status NCT03498118 20 mL of bupivacaine 0.25%
46 New Therapeutic Strategies for Inhibitory Control Improvement of Alcohol-dependent Patients Unknown status NCT03058276
47 RESP-FIT: Technology-Enhanced Self-Management in COPD Completed NCT03652662
48 "Effects of a Play-based Family Centered Psychomotor/Psychosocial Stimulation on Recovery of Severely Malnourished Children of 6-60 Months of Age During Nutritional Rehabilitation in the Jimma Zone of Ethiopia" Completed NCT03036176
49 OptiDiag: Biomedical Investigations for Optimized Diagnosis and Monitoring of Severe Acute Malnutrition (SAM): Elucidating the Heterogeneous Diagnosis of SAM by Current Anthropometric Criteria and Moving Beyond Completed NCT03400930
50 Evaluation of the Effectiveness of an Integrated Program for the Management of Severe Acute Malnutrition in Children in Madhya Pradesh, India Completed NCT01917734

Search NIH Clinical Center for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities

Genetic Tests for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Genetic tests related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

# Genetic test Affiliating Genes
1 Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities 29 GSC

Anatomical Context for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

MalaCards organs/tissues related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

40
Prostate, Eye, Testes, Brain, Heart, Liver

Publications for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Articles related to Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

# Title Authors PMID Year
1
SAMS, a syndrome of short stature, auditory-canal atresia, mandibular hypoplasia, and skeletal abnormalities is a unique neurocristopathy caused by mutations in Goosecoid. 57 6 61
24290375 2013
2
SAMS: provisionally unique multiple congenital anomalies syndrome consisting of short stature, auditory canal atresia, mandibular hypoplasia, and skeletal abnormalities. 61 6 57
9475592 1998
3
Auditory canal atresia, humeroscapular synostosis, and other skeletal abnormalities: confirmation of the autosomal recessive "SAMS" syndrome. 57 61
12116210 2002

Variations for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

ClinVar genetic disease variations for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 GSC NM_173849.2(GSC):c.355+1G>C SNV Pathogenic 126524 rs587777290 GRCh37: 14:95235997-95235997
GRCh38: 14:94769660-94769660
2 GSC NM_173849.2(GSC):c.400C>T (p.Gln134Ter) SNV Pathogenic 126523 rs587777289 GRCh37: 14:95235510-95235510
GRCh38: 14:94769173-94769173
3 GSC NM_173849.2(GSC):c.196_212del (p.Gly66fs) Deletion Pathogenic 126522 rs587777288 GRCh37: 14:95236141-95236157
GRCh38: 14:94769804-94769820

Expression for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Search GEO for disease gene expression data for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and Skeletal Abnormalities.

Pathways for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

GO Terms for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

Sources for Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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