SOFT
MCID: SHR059
MIFTS: 46

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 57 74 29 13 6
Soft Syndrome 57 59 74
Soft 57 74
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome 72
Short Stature-Onychodysplasia-Facial Dysmorphism-Hypotrichosis Syndrome 59
Stature, Short, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 40

Characteristics:

Orphanet epidemiological data:

59
short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

32
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 614813
ICD10 via Orphanet 34 Q87.1
Orphanet 59 ORPHA314394
UMLS 72 C3542022

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

UniProtKB/Swiss-Prot : 74 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 Bacitracin and Methyl salicylate have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and prostate, and related phenotypes are hypertelorism and diabetes mellitus

OMIM : 57 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 2289)
# 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 12.3
9 malignant giant cell tumor of soft parts 12.3
10 soft tissue peripheral neuroepithelioma 12.3
11 rare soft tissue tumor 12.3
12 extramedullary soft tissue plasmacytoma 12.2
13 soft tissue sarcoma childhood 12.1
14 genetic soft tissue tumor 12.1
15 clear cell sarcoma 12.1
16 sarcoma 12.0
17 kaposi sarcoma 12.0
18 connective tissue benign neoplasm 11.9
19 mesomelia-synostoses syndrome 11.8
20 perineurioma 11.8
21 sarcoma, synovial 11.8
22 undifferentiated pleomorphic sarcoma 11.8
23 fibrosarcoma 11.8
24 epithelioid sarcoma 11.7
25 myxoid liposarcoma 11.7
26 dermatofibrosarcoma protuberans 11.7
27 rhabdomyosarcoma 11.7
28 cleft palate, isolated 11.7
29 klippel-trenaunay-weber syndrome 11.7
30 leiomyosarcoma 11.6
31 hemangiopericytoma, malignant 11.6
32 chondrosarcoma, extraskeletal myxoid 11.6
33 rhabdoid cancer 11.6
34 extraneural perineurioma 11.6
35 rhabdomyosarcoma 2 11.6
36 chondrosarcoma 11.5
37 ewing sarcoma 11.5
38 liposarcoma 11.5
39 muscle cancer 11.5
40 necrotizing fasciitis 11.5
41 rheumatic disease 11.5
42 myxofibrosarcoma 11.5
43 li-fraumeni syndrome 11.5
44 extraskeletal chondroma 11.5
45 caffey disease 11.5
46 chordoma 11.5
47 rhabdoid tumor predisposition syndrome 1 11.5
48 skin tag 11.5
49 fibromyalgia 11.5
50 familial adenomatous polyposis 1 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:

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

Symptoms via clinical synopsis from OMIM:

57
Skeletal Hands:
clinodactyly
brachydactyly
short metacarpals
cone-shaped epiphyses
small hands
more
Genitourinary Internal Genitalia Male:
oligospermia
azoozpermia

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)

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

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 1175)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bacitracin Approved, Vet_approved Phase 4 1405-87-4 439542 10909430
2
Methyl salicylate Approved, Vet_approved Phase 4 119-36-8 4133
3
Cloxacillin Approved, Investigational, Vet_approved Phase 4 61-72-3 6098
4
Povidone-iodine Approved Phase 4 25655-41-8
5
Glycerol Approved, Investigational Phase 4 56-81-5 753
6
Etoricoxib Approved, Investigational Phase 4 202409-33-4 123619
7
acetic acid Approved Phase 4 64-19-7 176
8
Mineral oil Approved, Vet_approved Phase 4 8042-47-5
9
Ethambutol Approved Phase 4 74-55-5 3279 14052
10
Nystatin Approved, Vet_approved Phase 4 1400-61-9 11953884
11
Phylloquinone Approved, Investigational Phase 4 84-80-0
12
Thymol Approved Phase 4 89-83-8 6989
13
Menthol Approved Phase 4 2216-51-5 16666
14 fluindione Approved, Investigational Phase 4 957-56-2
15
Rivaroxaban Approved Phase 4 366789-02-8
16
Atracurium Approved, Experimental, Investigational Phase 4 64228-79-1 47319
17
Succinylcholine Approved Phase 4 306-40-1 5314
18
Thiopental Approved, Vet_approved Phase 4 76-75-5 3000715
19
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
20
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
21
Dextromethorphan Approved Phase 4 125-71-3 5360696 5362449
22
Povidone Approved Phase 4 9003-39-8
23
Tedizolid Approved, Investigational Phase 4 856866-72-3
24
Tedizolid phosphate Approved Phase 4 856867-55-5
25
Propranolol Approved, Investigational Phase 4 525-66-6 4946
26
Xylometazoline Approved, Investigational Phase 4 526-36-3 5709
27
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
28
Atorvastatin Approved Phase 4 134523-00-5 60823
29
Benzoyl peroxide Approved Phase 4 94-36-0 7187
30
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
31
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
32
Cephalexin Approved, Investigational, Vet_approved Phase 4 15686-71-2 27447
33
Ribavirin Approved Phase 4 36791-04-5 37542
34
Curcumin Approved, Experimental, Investigational Phase 4 458-37-7 969516
35
Sage Approved Phase 4
36 Lycopene Approved, Investigational Phase 4 502-65-8 53477748
37
Retapamulin Approved Phase 4 224452-66-8 6918462
38
Indinavir Approved Phase 4 150378-17-9 5362440
39
Clotrimazole Approved, Vet_approved Phase 4 23593-75-1 2812
40
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585
41
Ziprasidone Approved Phase 4 146939-27-7 60854
42
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946
43
Rifampicin Approved Phase 4 13292-46-1 5381226 5458213
44
Cetylpyridinium Approved Phase 4 7773-52-6
45
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
46
Norgestimate Approved, Investigational Phase 4 35189-28-7 6540478
47
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757
48
Polyestradiol phosphate Approved Phase 4 28014-46-2
49
Dexmedetomidine Approved, Vet_approved Phase 4 113775-47-6 68602 5311068
50
Colchicine Approved Phase 4 64-86-8 6167 2833

Interventional clinical trials:

(show top 50) (show all 4899)
# 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 Efficacy and Safety of MiSight ® Contact Lenses in Reducing the Progression of Childhood Myopia, Not Pathological, Aged 8-12 Years Randomized Clinical Trial. Unknown status NCT01917110 Phase 4
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 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
6 A Novel Single-puncture Triple Nerve Block; Sciatic, Obturator, Femoral Technique (SOFT), as a Sole Anesthesia for Knee Surgeries Unknown status NCT02951520 Phase 4
7 Trial of Ablation of Small Hepatocellular Carcinomas in Patients of Cirrhosis Unknown status NCT01438437 Phase 4
8 Targeting of the Small Airways in Patients With COPD: Airway Effects of Tiotropium - Respimat vs Handihaler Unknown status NCT02683668 Phase 4
9 Advantages of Ulipristal Acetate for the Preoperative Treatment of Hypoechoic Cellular Leiomyomas Unknown status NCT02361905 Phase 4 ulipristal acetate;Leuprolide acetate
10 Negative Pressure Wound Therapy With the Engenex™-Pump and Bio-Dome™ Dressing, an Evaluation Unknown status NCT01107821 Phase 4
11 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
12 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)
13 Rifampin Combination Therapy Versus Monotherapy in Early Staphylococcal Infections After Total Hip and Knee Arthroplasty Unknown status NCT00423982 Phase 4 Rifampin-combination therapy;Monotherapy
14 The Study of Standardized Preoperative Anti-tuberculosis Treatment of Surgical Treatment of Spinal Tuberculosis Patients Unknown status NCT02477852 Phase 4 Isoniazid;Rifampicin;Ethambutol;Pyrazinamide
15 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
16 Optimizing Influenza Vaccination in Surgical Oncology Patients Unknown status NCT01698177 Phase 4
17 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
18 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
19 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)
20 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
21 The Impact of Early Feeding Following Ligation of the Acute Bleeding Varices Unknown status NCT01287702 Phase 4
22 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
23 Effectiveness of Nano-hydroxyapetite Care Paste in Reducing Dentinhypersenstitivity: A Double Blind Randomized Control Trial Unknown status NCT02936830 Phase 4 5% Sodium Fluoride Varnish;15% Nanohydroxyapetite paste;Glycerol
24 The Impact of N-Acetylcysteine on Volumetric Retention of Autologous Fat Graft for Breast Asymmetry Correction Unknown status NCT03197103 Phase 4 N-Acetylcysteine (NAC)
25 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
26 Corticosteroids as Additive in Arthrocentesis of the Temporomandibular Joint: Double Blind, Randomised Controlled Trial of Effectiveness. Unknown status NCT01275014 Phase 4 Dexamethasone;Isotonic saline
27 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)
28 Effect of N-Acetylcysteine on Autologous Fat Graft Survival Unknown status NCT02788292 Phase 4 Acetylcysteine
29 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
30 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
31 Anticaries Effect of Probiotic Lactobacillus Brevis CD2 (Lb CD2). A Randomized Double Blind Interventional Study. Unknown status NCT01778699 Phase 4
32 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
33 The VICTORIA Study (Vascular CalcIfiCation and sTiffness Induced by ORal antIcoAgulation) Comparison Anti-vitamin K Versus Anti-Xa. Unknown status NCT02161965 Phase 4 Rivaroxaban;Fluindione;Warfarin
34 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
35 Comparison of Self Gripping Semi-resorbable Mesh (PROGRIP) With Polypropylene Mesh in Open Inguinal Hernia Repair - a Randomized Study Unknown status NCT00960011 Phase 4
36 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
37 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
38 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
39 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
40 Clinical Study of Approved Contact Lenses Completed NCT03351101 Phase 4
41 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
42 Comparative Study of Two Marketed Spherical Soft Contact Lenses Completed NCT01582789 Phase 4
43 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
44 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
45 Clinical Trial to Evaluate the Efficacy and Safety of 'URSA SOFT CAP. (UDCA-003)' in Fatigue Patients With Liver Dysfunction Completed NCT02415777 Phase 4 Ursodeoxycholic acid, thiamine, riboflavin
46 A Multi-center, Randomized, Double-blind, Placebo-controlled Trial to Evaluate the Efficacy and Safety of 'Ursa Complex Soft Cap. (UDCA-004)' in Patients With Physical Fatigue. Completed NCT02418130 Phase 4 Ursodeoxycholic acid, taurine, ginsenoside, thiamine, inositol;Placebo
47 Investigation of Multi-Purpose Solution-Based Corneal Staining and Ocular Comfort With Daily Wear FDA Group IV Hydrogel Lenses Completed NCT00349843 Phase 4 Marketed soft lens multipurpose disinfection regimen
48 Benzaknen® 5% Gel in Combination With Dermotivin® Soft Liquid Soap and Non-comedogenic Cetaphil® Dermacontrol Moisturizer SPF30 in the Treatment of Mild-to-moderate Acne Vulgaris Completed NCT02589405 Phase 4 Benzoyl Peroxide
49 The Impact of Soft Contact Lens Attributes on Symptoms Associated With Digital Eye Strain in Symptomatic Soft Contact Lens Wearers Completed NCT03585790 Phase 4
50 An Open-label, Prospective, Uncontrolled Study of the Safety and Local Tolerability of the Diclofenac Epolamine Patch (Flector Patch) in Pediatric Patients With Minor Soft Tissue Injuries Completed NCT02132247 Phase 4 Diclofenac hydroxyethylpyrrolidine

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:

41
Bone, Skin, Prostate, Breast, Testes, Eye, Brain

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

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

# Title Authors PMID Year
1
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. 38 8 71
22840363 2012
2
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. 8 71
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. 8 71
22440536 2012
4
Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome. 8
1632447 1992
5
SOFT syndrome in a patient from Chile. 38
30569574 2019
6
SOFT Syndrome: The First Case in Iran. 38
30310776 2018
7
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. 38
28819016 2017
8
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. 38
26791357 2016
9
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. 38
26374189 2016
10
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. 38
26162852 2015

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

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 POC1A NM_001161581.2(POC1A): c.127C> T (p.Arg43Ter) single nucleotide variant Pathogenic rs397514487 3:52183866-52183866 3:52149850-52149850
2 POC1A NM_001161581.2(POC1A): c.398T> C (p.Leu133Pro) single nucleotide variant Pathogenic rs397514488 3:52181055-52181055 3:52147039-52147039
3 POC1A NM_001161581.2(POC1A): c.-51G> T single nucleotide variant Likely pathogenic 3:52185071-52185071 3:52151055-52151055
4 POC1A NM_001161581.2(POC1A): c.722T> G (p.Phe241Cys) single nucleotide variant Uncertain significance 3:52159175-52159175 3:52125159-52125159

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

74
# 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 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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