SOFT
MCID: SHR059
MIFTS: 47

Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (SOFT)

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

Aliases & Classifications for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

MalaCards integrated aliases for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

Name: Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 56 73 29 13 6
Soft Syndrome 56 58 73
Soft 56 73
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome 71
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome 58
Stature, Short, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 39

Characteristics:

Orphanet epidemiological data:

58
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

31
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

UniProtKB/Swiss-Prot : 73 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis: A syndrome characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high- pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone- shaped epiphyses. Vertebral body ossification is also delayed.

MalaCards based summary : Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis, also known as soft syndrome, is related to alveolar soft part sarcoma and soft tissue sarcoma, and has symptoms including waddling gait An important gene associated with Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis is POC1A (POC1 Centriolar Protein A). The drugs Methyl salicylate and Cloxacillin have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and breast, and related phenotypes are global developmental delay and hypertelorism

OMIM : 56 SOFT syndrome is characterized by severely short long bones, peculiar facies associated with paucity of hair, and nail anomalies. Growth retardation is evident on prenatal ultrasound as early as the second trimester of pregnancy, and affected individuals reach a final stature consistent with a height age of 6 years to 8 years. Relative macrocephaly is present during early childhood but head circumference is markedly low by adulthood. Psychomotor development is normal. Facial dysmorphism includes a long, triangular face with prominent nose and small ears, and affected individuals have an unusual high-pitched voice. Clinodactyly, brachydactyly, and hypoplastic distal phalanges and fingernails are present in association with postpubertal sparse and short hair. Typical skeletal findings include short and thick long bones with mild irregular metaphyseal changes, short femoral necks, and hypoplastic pelvis and sacrum. All long bones of the hand are short, with major delay of carpal ossification and cone-shaped epiphyses. Vertebral body ossification is also delayed (summary by Sarig et al., 2012). (614813)

Related Diseases for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 2295)
# Related Disease Score Top Affiliating Genes
1 alveolar soft part sarcoma 12.8
2 soft tissue sarcoma 12.7
3 cleft soft palate 12.7
4 soft palate cancer 12.5
5 melanoma of soft tissue 12.4
6 necrotizing soft tissue infection 12.4
7 cervical alveolar soft part sarcoma 12.4
8 vulvar alveolar soft part sarcoma 12.4
9 malignant giant cell tumor of soft parts 12.4
10 soft tissue peripheral neuroepithelioma 12.3
11 rare soft tissue tumor 12.3
12 extramedullary soft tissue plasmacytoma 12.3
13 genetic soft tissue tumor 12.1
14 clear cell sarcoma 12.1
15 sarcoma 12.0
16 kaposi sarcoma 12.0
17 connective tissue benign neoplasm 11.9
18 mesomelia-synostoses syndrome 11.8
19 perineurioma 11.8
20 sarcoma, synovial 11.8
21 malignant fibrous histiocytoma 11.8
22 fibrosarcoma 11.8
23 dermatofibrosarcoma protuberans 11.7
24 epithelioid sarcoma 11.7
25 myxoid liposarcoma 11.7
26 rhabdomyosarcoma 11.7
27 cleft palate, isolated 11.7
28 klippel-trenaunay-weber syndrome 11.7
29 leiomyosarcoma 11.6
30 hemangiopericytoma, malignant 11.6
31 chondrosarcoma, extraskeletal myxoid 11.6
32 rhabdoid cancer 11.6
33 extraneural perineurioma 11.6
34 rhabdomyosarcoma 2 11.6
35 chondrosarcoma 11.5
36 angiosarcoma 11.5
37 ewing sarcoma 11.5
38 liposarcoma 11.5
39 muscle cancer 11.5
40 necrotizing fasciitis 11.5
41 myxofibrosarcoma 11.5
42 li-fraumeni syndrome 11.5
43 extraskeletal chondroma 11.5
44 caffey disease 11.5
45 chordoma 11.5
46 skin tag 11.5
47 rhabdoid tumor predisposition syndrome 1 11.5
48 familial adenomatous polyposis 1 11.4
49 kimura disease 11.4
50 fibromyalgia 11.4

Graphical network of the top 20 diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:



Diseases related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Symptoms & Phenotypes for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Human phenotypes related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 occasional (7.5%) HP:0001263
2 hypertelorism 31 occasional (7.5%) HP:0000316
3 abnormality of the dentition 31 occasional (7.5%) HP:0000164
4 developmental regression 31 occasional (7.5%) HP:0002376
5 diabetes mellitus 31 occasional (7.5%) HP:0000819
6 deeply set eye 31 occasional (7.5%) HP:0000490
7 generalized hypotonia 31 occasional (7.5%) HP:0001290
8 clitoral hypoplasia 31 occasional (7.5%) HP:0000060
9 breast hypoplasia 31 occasional (7.5%) HP:0003187
10 macrocephaly 31 HP:0000256
11 mandibular prognathia 31 HP:0000303
12 microtia 31 HP:0008551
13 microcephaly 31 HP:0000252
14 prominent forehead 31 HP:0011220
15 waddling gait 31 HP:0002515
16 brachydactyly 31 HP:0001156
17 long face 31 HP:0000276
18 pointed chin 31 HP:0000307
19 short distal phalanx of finger 31 HP:0009882
20 high pitched voice 31 HP:0001620
21 small hand 31 HP:0200055
22 triangular face 31 HP:0000325
23 short metacarpal 31 HP:0010049
24 nail dysplasia 31 HP:0002164
25 cone-shaped epiphysis 31 HP:0010579
26 sparse hair 31 HP:0008070
27 disproportionate short stature 31 HP:0003498
28 prominent nose 31 HP:0000448
29 small for gestational age 31 HP:0001518
30 small nail 31 HP:0001792
31 oligospermia 31 HP:0000798
32 short metatarsal 31 HP:0010743
33 hypoplastic pelvis 31 HP:0008839
34 short femoral neck 31 HP:0100864
35 clinodactyly 31 HP:0030084
36 hypoplastic sacrum 31 HP:0004590

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Face:
prominent forehead
long face
pointed chin
triangular face
large mandible

Genitourinary Internal Genitalia Male:
azoospermia
oligospermia

Skeletal Limbs:
short femoral neck
short long bones, especially femurs and humeri
thick long bones
irregular metaphyseal changes, mild

Head And Neck Ears:
small ears

Growth Weight:
low birth weight

Neurologic Central Nervous System:
hypotonia (rare)
psychomotor delay (rare)

Head And Neck Head:
dolicocephaly (rare)
macrocephaly, relative, in childhood
microcephaly in adulthood

Head And Neck Teeth:
dental anomalies, variable (in some patients)

Genitourinary External Genitalia Female:
clitoral hypoplasia/aplasia (rare)

Skeletal Spine:
vertebral body ossification delay

Skin Nails Hair Hair:
sparse hair after puberty

Endocrine Features:
diabetes mellitus, type 2 (rare)

Skeletal Hands:
brachydactyly
clinodactyly
short metacarpals
cone-shaped epiphyses
small hands
more
Head And Neck Nose:
prominent nose

Skin Nails Hair Nails:
hypoplastic nails

Skeletal Feet:
short metatarsals
short tarsals

Head And Neck Eyes:
hypertelorism (in some patients)
deep-set eyes (in some patients)

Growth Other:
growth retardation, postnatal

Growth Height:
short stature, disproportionate, prenatal onset

Chest Breasts:
underdeveloped breasts (rare)

Skeletal:
bone age delay

Skeletal Pelvis:
hypoplastic pelvis and sacrum

Voice:
unusual, high-pitched voice

Clinical features from OMIM:

614813

UMLS symptoms related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:


waddling gait

Drugs & Therapeutics for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Drugs for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1114)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Methyl salicylate Approved, Vet_approved Phase 4 119-36-8 4133
2
Cloxacillin Approved, Investigational, Vet_approved Phase 4 61-72-3 6098
3
Povidone-iodine Approved Phase 4 25655-41-8
4
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
5
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
6
acetic acid Approved Phase 4 64-19-7 176
7
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
8
Ethambutol Approved Phase 4 74-55-5 3279 14052
9
Nystatin Approved, Vet_approved Phase 4 1400-61-9 11953884
10
Penicillin V Approved, Vet_approved Phase 4 87-08-1 6869
11
Thymol Approved Phase 4 89-83-8 6989
12
Menthol Approved Phase 4 2216-51-5 16666
13
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
14
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
15
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
16
Succinylcholine Approved Phase 4 306-40-1 5314
17
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
18
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
19
Tedizolid phosphate Approved Phase 4 856867-55-5
20
Tedizolid Approved, Investigational Phase 4 856866-72-3
21
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
22
Benzoyl peroxide Approved Phase 4 94-36-0 7187
23
Propranolol Approved, Investigational Phase 4 525-66-6 4946
24
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
25
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
26
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
27
Hydrocortisone acetate Approved, Vet_approved Phase 4 50-03-3
28
Hydrocortisone Approved, Vet_approved Phase 4 50-23-7 5754
29
Ribavirin Approved Phase 4 36791-04-5 37542
30
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
31
Retapamulin Approved Phase 4 224452-66-8 6918462
32 Lycopene Approved, Investigational Phase 4 502-65-8 53477748
33
Sage Approved Phase 4
34
Midazolam Approved, Illicit Phase 4 59467-70-8 4192
35
Phentolamine Approved Phase 4 50-60-2 5775
36
Indinavir Approved Phase 4 150378-17-9 5362440
37
Glycerol Approved, Investigational Phase 4 56-81-5 753
38
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
39
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 6741
40
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5
41 Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
42
Prednisolone Approved, Vet_approved Phase 4 50-24-8 5755
43
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
44
Ziprasidone Approved Phase 4 146939-27-7 60854
45
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
46
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
47
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
48
Cetylpyridinium Approved Phase 4 7773-52-6
49
Colchicine Approved Phase 4 64-86-8 2833 6167
50
Febuxostat Approved Phase 4 144060-53-7 134018

Interventional clinical trials:

(show top 50) (show all 5496)
# Name Status NCT ID Phase Drugs
1 The Effectiveness and Safety of Butylphthalide Soft Capsules in Secondary Prevention of Ischemic Stroke Trial Unknown status NCT00724724 Phase 4 Butylphthalide Soft Capsules;Aspirin
2 A Placebo-controlled, Randomized, Double-blind, Parallel, Multi-center Clinical Trial to Evaluate the Efficacy and Safety of DA-5515 (Circulan® Soft Cap.) in Patients With Chronic Fatigue Symptoms Due to Impaired Blood Circulation Unknown status NCT03542721 Phase 4 DA-5515;Placebo of DA-5515
3 EpSSG (European Soft Tissue Sarcoma Study Group) Protocol for Non-Metastatic Rhabdomyosarcoma in Children Unknown status NCT00339118 Phase 4 doxorubicin, cytoxan
4 Ketoprofen Gel vs Placebo in Children Presented With Ankle Sprain to the Emergency Department: A Randomised Controlled Trial Unknown status NCT02491736 Phase 4 Ketoprofen
5 Treatment of Posttraumatic Swelling and Pain With Zhi Kang Capsule: a Multicenter, Phase IV Clinical Trial Unknown status NCT03363971 Phase 4 Zhi Kang Capsule;Simulant agent for Zhi Kang Capsule
6 The Efficacy of Cyanoacrylate (PeriAcryl®90 HV) in Its Adhesive Post-Operative Properties on Periodontal Wound Healing and Patient Discomfort After Non-Surgical Periodontal Treatment: A Pilot Randomized Clinical Trial Unknown status NCT02826109 Phase 4
7 A Novel Single-puncture Triple Nerve Block; Sciatic, Obturator, Femoral Technique (SOFT), as a Sole Anesthesia for Knee Surgeries Unknown status NCT02951520 Phase 4
8 Correlation Between Acute Analgesia and Long-Term Function Following Ankle Unknown status NCT02667730 Phase 4 Acetaminophen;Naproxen;Celecoxib
9 Trial of Ablation of Small Hepatocellular Carcinomas in Patients of Cirrhosis Unknown status NCT01438437 Phase 4
10 Phase IV Study to Evaluate and Compare the Efficacy of PeriActive Mouthwash to Chlorhexidine 0.12% Rinse With Regards to Managing Post-surgical Inflammation Associated With Dental Implant Surgery Unknown status NCT02987634 Phase 4
11 The Effect of Body Mass Index, Intra-abdominal Pressure, Abdominal Girth and Waist Circumference on Sensory Block Level After Single-shot Spinal Anesthesia for Cesarean Section Unknown status NCT03164096 Phase 4 Bupivacaine Hydrochloride
12 Advantages of Ulipristal Acetate for the Preoperative Treatment of Hypoechoic Cellular Leiomyomas Unknown status NCT02361905 Phase 4 ulipristal acetate;Leuprolide acetate
13 Negative Pressure Wound Therapy With the Engenex™-Pump and Bio-Dome™ Dressing, an Evaluation Unknown status NCT01107821 Phase 4
14 Combined Radiotherapy and Intravenous Steroids for Early Progressive Thyroid Eye Disease Unknown status NCT02339142 Phase 4 intravenous corticosteroids (methylprednisolone)
15 The Study of Standardized Preoperative Anti-tuberculosis Treatment of Surgical Treatment of Spinal Tuberculosis Patients Unknown status NCT02477852 Phase 4 Isoniazid;Rifampicin;Ethambutol;Pyrazinamide
16 Comparison of Efficacy of Glycerol, Two Topical Steroids, and a Topical Immune Modulator Against Experimentally Induced Skin Irritation Unknown status NCT00779792 Phase 4 clobetasol;triamcinolone acetonide;tacrolimus;glycerol;vehicle ointment (paraffin oil/soft white paraffin)
17 A Randomized, Double-blind Study to Evaluate the Efficacy of Iguratimod Versus Placebo in Patients With Rheumatoid Arthritis on Magnetic Resonance Imaging (MRI) Unknown status NCT01893151 Phase 4 Iguratimod;Iguratimod placebo
18 Rifampin Combination Therapy Versus Monotherapy in Early Staphylococcal Infections After Total Hip and Knee Arthroplasty Unknown status NCT00423982 Phase 4 Rifampin-combination therapy;Monotherapy
19 Patient Perception and Clinical Efficacy of Geistlich Mucograft® vs. Autologous Connective Tissue Graft for the Treatment of Peri-implantitis: Multi-centre Randomized Clinical Trial Unknown status NCT03551145 Phase 4
20 Efficacy of Two Different Oral Hygiene Regimens on the Incidence and Severity of Oral Mucositis in Patients Receiving Hematopoietic Stem Cell Transplantation - A Randomized Controlled Trial Unknown status NCT02662374 Phase 4 .02% Chlorohexidine Gluconate;3% Sodium Bicarbonate;Nystatin 10000U/ml;Supersaturated Calcium Phosphate
21 Prospective Randomize Trial Comparing Corticosteroid Injection to High Energy Extracorporeal Shock Wave Therapy for Lateral Epicondylitis Unknown status NCT02613455 Phase 4 Kenalog (triamcinolone);lidocaine 1% (lidocaine HCl 20mg)
22 Pinhole Surgical Technique With And Without Use Of Button Application For Treatment Of Multiple Gingival Recessions: A Comparative Controlled Randomized Clinical Trial Unknown status NCT02632968 Phase 4
23 Atomization of Fentanyl: A Randomized Comparison Study of Intranasal Versus Intravenous Fentanyl for Pre-hospital Pain Management Unknown status NCT00882960 Phase 4 intravenous fentanyl;intra-nasal fentanyl
24 Optimizing Influenza Vaccination in Surgical Oncology Patients Unknown status NCT01698177 Phase 4
25 A Randomized Study on the Effects of Lactobacillus Brevis CD2 in the Prevention of Radio and Chemotherapy Induced Oral Mucositis in Head and Neck Cancer Patients. Unknown status NCT01707641 Phase 4
26 Oral Flucloxacillin Alone Versus Flucloxacillin and Phenoxymethylpenicillin for the Emergency Department Outpatient Treatment of Cellulitis: a Non-inferiority Randomised Controlled Trial. Unknown status NCT02922686 Phase 4 Flucloxacillin;Phenoxymethylpenicillin;Placebo (for phenoxymethylpenicillin)
27 Randomized, Prospective, Multi-center, Comparison Study of 3-4-screws-internal Fixation With Multi-screw-system Targon FN for Femoral Neck Fracture Unknown status NCT00829725 Phase 4
28 The Impact of Early Feeding Following Ligation of the Acute Bleeding Varices Unknown status NCT01287702 Phase 4
29 Mouthwashes as Positive Modulators of Periodontal Response During Orthodontic Treatment: a 6-month Randomized Placebo Controlled Clinical Trial Unknown status NCT03179735 Phase 4 Essential oils;Cetylpyridinium Chloride 0.7 mg/ml;Placebos
30 The Impact of N-Acetylcysteine on Volumetric Retention of Autologous Fat Graft for Breast Asymmetry Correction Unknown status NCT03197103 Phase 4 N-Acetylcysteine (NAC)
31 An Evaluation of the Efficacy and Safety of a Polyethylene Glycol (PEG) Based Bowel Protocol for the Management of Constipation in Peritoneal Dialysis Patients: A Pilot Study Unknown status NCT03148002 Phase 4 Current Bowel Protocol (senna/lactulose);PEG Bowel Protocol (PEG/lactulose)
32 Evaluation of the Efficacy of Exparel Delivered Into the Hip Capsule During Hemiarthroplasty Unknown status NCT03502018 Phase 4 Bupivacaine liposome;Saline
33 Patient-Centered Comparative Effectiveness Research (CER) Study of Home-based Interventions to Prevent CA-MRSA Infection Recurrence Unknown status NCT02566928 Phase 4 2% mupirocin ointment
34 Post-operative Pain After Silver Diamine Fluoride Application in Primary Molars With Deep Caries Versus Interim Restorative Therapy Unknown status NCT03563534 Phase 4 Silver Diamine Fluoride;Glass Ionomer
35 Corticosteroids as Additive in Arthrocentesis of the Temporomandibular Joint: Double Blind, Randomised Controlled Trial of Effectiveness. Unknown status NCT01275014 Phase 4 Dexamethasone;Isotonic saline
36 Effect of N-Acetylcysteine on Autologous Fat Graft Survival Unknown status NCT02788292 Phase 4 Acetylcysteine
37 The Use of Botulinum Toxin-A in Two-stage Tissue Expander/Implant Breast Reconstruction: A Prospective, Randomized, Double-Blind Placebo Controlled Trial Unknown status NCT01427400 Phase 4 Botulinum Toxin-A;Saline
38 Minimization of Bleeding Complications Through Utilization of Perioperative Tranexamic Acid in Breast Surgery: A Randomized Double-blinded Placebo-controlled Trial Unknown status NCT02615366 Phase 4 Tranexamic Acid;Placebo
39 Efficacy and Safety of the Non-Steroidal Anti-Inflammatory Drug Etoricoxib in the Treatment of Acute Ankle Sprain in Sports: A Randomized Double-Blind Comparative Study Among 2 Treatments in the Acute Phase Unknown status NCT00525993 Phase 4 etoricoxib 90mg 14 days;etoricoxib 60mg daily for 14 days
40 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
41 Use of Integrated PET/MR to Evaluate Clinical Staging and Monitor Treatment Response of Neoadjuvant Chemotherapy for Breast Cancer Patients: A Pilot Study Unknown status NCT02766530 Phase 4
42 Randomised Study to Compare the Regain of Gastrointestinal Motility After General Anaesthesia Versus Spinal Anaesthesia in Caesarean Section.Kasr El Ainy,Egypt Experience Unknown status NCT02504749 Phase 4
43 Comparison of the Incidence of Ventilator Associated Pneumonia in Patients Intubated With the Taper Guard Endotracheal Tube Versus a Normal Endotracheal Tube Unknown status NCT01501227 Phase 4
44 An Open-Label Pilot Study to Compare the Efficacy of Escalating Doses of IncobotulinumtoxinA (Xeomin®) in the Treatment of Glabellar Rhytids Unknown status NCT01583478 Phase 4
45 MRI With a Lymph Node Specific Contrast Agent: an Alternative for CT-Scanning and Lymph Node Dissection in Patients With Prostate Cancer? Unknown status NCT00185029 Phase 4
46 Clinical Study of Approved Contact Lenses Completed NCT03351101 Phase 4
47 Linezolid in the Treatment of Subjects With Complicated Skin and Soft Tissue Infections Proven to be Due to Methicillin-Resistant Staphylococcus Aureus Completed NCT00087490 Phase 4 linezolid;vancomycin
48 Comparative Study of Two Marketed Spherical Soft Contact Lenses Completed NCT01582789 Phase 4
49 Randomized Controlled Trial on Role of Octreotide in Preventing Pancreatic Fistula and Complications After Pancreaticoduodenectomy in Patients With Soft Pancreas Completed NCT01301222 Phase 4 Inj. Octreotide
50 An Open, Non-comparative Study to Evaluate the Efficacy and Safety of AUGMENTIN 1gm (875mg Amoxicillin/125mg Clavulanic Acid) po q 12 Hours in the Treatment of Uncomplicated Skin and Soft Tissue Infections in Pakistan Completed NCT00343135 Phase 4 amoxicillin/clavulanate potassium 1gm

Search NIH Clinical Center for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis

Genetic Tests for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Genetic tests related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

# Genetic test Affiliating Genes
1 Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 29 POC1A

Anatomical Context for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

MalaCards organs/tissues related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

40
Bone, Skin, Breast, Prostate, Testes, Eye, Liver

Publications for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Articles related to Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

(show all 11)
# Title Authors PMID Year
1
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. 61 6 56
22840363 2012
2
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. 6 56
22840364 2012
3
A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous Arab families. 56 6
22440536 2012
4
Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome. 56
1632447 1992
5
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients. 61
31767933 2020
6
SOFT syndrome in a patient from Chile. 61
30569574 2019
7
SOFT Syndrome: The First Case in Iran. 61
30310776 2018
8
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. 61
28819016 2017
9
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. 61
26791357 2016
10
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. 61
26374189 2016
11
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. 61
26162852 2015

Variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

ClinVar genetic disease variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 POC1A NM_015426.5(POC1A):c.241C>T (p.Arg81Ter)SNV Pathogenic 37062 rs397514487 3:52183866-52183866 3:52149850-52149850
2 POC1A NM_015426.5(POC1A):c.512T>C (p.Leu171Pro)SNV Pathogenic 37063 rs397514488 3:52181055-52181055 3:52147039-52147039
3 POC1A NM_015426.5(POC1A):c.64G>T (p.Val22Phe)SNV Likely pathogenic 623370 rs918352190 3:52185071-52185071 3:52151055-52151055
4 POC1A NM_015426.5(POC1A):c.253G>C (p.Val85Leu)SNV Likely pathogenic 666330 3:52183854-52183854 3:52149838-52149838
5 POC1A NM_015426.5(POC1A):c.836T>G (p.Phe279Cys)SNV Uncertain significance 587474 rs1559836324 3:52159175-52159175 3:52125159-52125159

UniProtKB/Swiss-Prot genetic disease variations for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis:

73
# Symbol AA change Variation ID SNP ID
1 POC1A p.Leu171Pro VAR_068884 rs397514488

Expression for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Search GEO for disease gene expression data for Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis.

Pathways for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

GO Terms for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

Sources for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
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45 MGI
48 NCI
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50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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