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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
Genes Variations Tissues Related diseases Publications Symptoms & Phenotypes Drugs
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Aliases & Classifications for Short Stature, Onychodysplasia, Facial Dysmorphism, and...

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

Name: Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis 57 72 29 13 6
Soft Syndrome 57 58 72
Soft 57 72
Short Stature, Onychodysplasia, Facial Dysmorphism, and Hypotrichosis Syndrome 70
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®:

57 (Updated 20-May-2021)
Miscellaneous:
waddling gait

Inheritance:
autosomal recessive


HPO:

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


Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases Ear diseases Smell/Taste diseases
See all MalaCards categories (disease lists)
ICD10: 33
Orphanet: 58  
Rare bone diseases
Developmental anomalies during embryogenesis


Sources

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

About this section
UniProtKB/Swiss-Prot : 72 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 soft tissue sarcoma and alveolar soft part 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 Aspirin and Saquinavir have been mentioned in the context of this disorder. Affiliated tissues include bone, skin and liver, and related phenotypes are diabetes mellitus and developmental regression

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) (Updated 20-May-2021)

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

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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 2335)
# Related Disease Score Top Affiliating Genes
1 soft tissue sarcoma 11.8
2 alveolar soft part sarcoma 11.7
3 sarcoma 11.5
4 cleft soft palate 11.4
5 connective tissue benign neoplasm 11.4
6 clear cell sarcoma 11.4
7 kaposi sarcoma 11.3
8 spindle cell sarcoma 11.3
9 sarcoma, synovial 11.2
10 soft palate cancer 11.2
11 cervical alveolar soft part sarcoma 11.2
12 malignant fibrous histiocytoma 11.2
13 klippel-trenaunay-weber syndrome 11.2
14 liposarcoma 11.2
15 vulvar alveolar soft part sarcoma 11.2
16 dermatofibrosarcoma protuberans 11.1
17 mesomelia-synostoses syndrome 11.1
18 ewing sarcoma 11.1
19 malignant giant cell tumor of soft parts 11.1
20 fibrosarcoma 11.1
21 leiomyosarcoma 11.1
22 epithelioid sarcoma 11.1
23 myxoid liposarcoma 11.1
24 necrotizing soft tissue infection 11.1
25 perineurioma 11.1
26 rhabdomyosarcoma 11.1
27 melanoma of soft tissue 11.1
28 extraneural perineurioma 11.1
29 cleft palate, isolated 11.1
30 li-fraumeni syndrome 11.1
31 chordoma 11.0
32 chondrosarcoma, extraskeletal myxoid 11.0
33 rhabdoid cancer 11.0
34 soft tissue peripheral neuroepithelioma 11.0
35 caffey disease 11.0
36 mediastinal mesenchymal tumor 11.0
37 gastrointestinal stromal tumor 11.0
38 chondrosarcoma 11.0
39 hemangiopericytoma, malignant 11.0
40 angiosarcoma 11.0
41 extraskeletal chondroma 11.0
42 rhabdomyosarcoma 2 11.0
43 rare soft tissue tumor 11.0
44 fibromatosis 11.0
45 plasmacytoma 11.0
46 arterial tortuosity syndrome 11.0
47 necrotizing fasciitis 11.0
48 bone sarcoma 10.9
49 muscle cancer 10.9
50 calcinosis 10.9

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

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

31 (show all 36)
# Description HPO Frequency HPO Source Accession
1 diabetes mellitus 31 occasional (7.5%) HP:0000819
2 developmental regression 31 occasional (7.5%) HP:0002376
3 global developmental delay 31 occasional (7.5%) HP:0001263
4 hypertelorism 31 occasional (7.5%) HP:0000316
5 abnormality of the dentition 31 occasional (7.5%) HP:0000164
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®:

57 (Updated 20-May-2021)
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 (Updated 20-May-2021)

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


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

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

(show top 50) (show all 813)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Aspirin Approved, Vet_approved Phase 4 50-78-2 2244
2
Saquinavir Approved, Investigational Phase 4 127779-20-8 60787
3
Inositol Approved, Investigational, Withdrawn Phase 4 87-89-8
4
Morphine Approved, Investigational Phase 4 57-27-2 5288826
5
Bupivacaine Approved, Investigational Phase 4 38396-39-3, 2180-92-9 2474
6
Diclofenac Approved, Vet_approved Phase 4 15307-86-5 3033
7
Dexamethasone Approved, Investigational, Vet_approved Phase 4 50-02-2 5743
8
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 4 1177-87-3
9
sodium fluoride Approved Phase 4 7681-49-4
10
Levobupivacaine Approved, Investigational Phase 4 27262-47-1 92253
11
Lopinavir Approved Phase 4 192725-17-0 92727
12
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
13
Retapamulin Approved Phase 4 224452-66-8 6918462
14
Sage Approved Phase 4
15
Ertapenem Approved, Investigational Phase 4 153832-46-3 150610
16
Ropivacaine Approved Phase 4 84057-95-4 71273 175805
17
Aprepitant Approved, Investigational Phase 4 170729-80-3 151165 6918365
18
Naproxen Approved, Vet_approved Phase 4 22204-53-1 1302 156391
19
Olanzapine Approved, Investigational Phase 4 132539-06-1 4585 135398745
20
Ziprasidone Approved Phase 4 146939-27-7 60854
21
Ursodeoxycholic acid Approved, Investigational Phase 4 128-13-2 31401
22
Benzoyl peroxide Approved Phase 4 94-36-0 7187
23
Norepinephrine Approved Phase 4 51-41-2 439260
24
Lumiracoxib Approved, Investigational Phase 4 220991-20-8 151166
25
Bexarotene Approved, Investigational Phase 4 153559-49-0 82146
26
Clonidine Approved Phase 4 4205-90-7 2803
27
Mycophenolic acid Approved Phase 4 24280-93-1 446541
28
Cetylpyridinium Approved Phase 4 7773-52-6
29
Tacrolimus Approved, Investigational Phase 4 104987-11-3 445643 439492 6473866
30
Lactulose Approved Phase 4 4618-18-2 11333
31
Methamphetamine Approved, Illicit Phase 4 537-46-2 10836
32
Dopamine Approved Phase 4 51-61-6, 62-31-7 681
33
Olodaterol Approved Phase 4 868049-49-4
34
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
35
Thrombin Approved, Investigational Phase 4
36
Propoxycaine Approved Phase 4 86-43-1
37
Desflurane Approved Phase 4 57041-67-5 42113
38
Rifaximin Approved, Investigational Phase 4 80621-81-4 6436173 46783403
39
Dinoprostone Approved Phase 4 363-24-6 5280360
40
Benzydamine Approved Phase 4 642-72-8, 100-46-9 7504
41
Amoxicillin Approved, Vet_approved Phase 4 26787-78-0 33613
42
Clindamycin Approved, Vet_approved Phase 4 18323-44-9 29029
43
Dalbavancin Approved, Investigational Phase 4 171500-79-1, 91097-81-3 122186
44
Chlorhexidine Approved, Vet_approved Phase 4 55-56-1 9552079 2713
45
Ibuprofen Approved Phase 4 15687-27-1 3672
46
Acetaminophen Approved Phase 4 103-90-2 1983
47
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
48
Daptomycin Approved, Investigational Phase 4 103060-53-3 16129629
49
Guaifenesin Approved, Investigational, Vet_approved Phase 4 93-14-1 3516
50
Hydrocodone Approved, Illicit, Investigational Phase 4 125-29-1 5284569

Interventional clinical trials:

(show top 50) (show all 2430)
# Name Status NCT ID Phase Drugs
1 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
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 The Effectiveness and Safety of Butylphthalide Soft Capsules in Secondary Prevention of Ischemic Stroke Trial Unknown status NCT00724724 Phase 4 Butylphthalide Soft Capsules;Aspirin
4 A Novel Single-puncture Triple Nerve Block; Sciatic, Obturator, Femoral Technique (SOFT), as a Sole Anesthesia for Knee Surgeries Unknown status NCT02951520 Phase 4
5 EpSSG (European Soft Tissue Sarcoma Study Group) Protocol for Non-Metastatic Rhabdomyosarcoma in Children Unknown status NCT00339118 Phase 4 doxorubicin, cytoxan
6 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)
7 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
8 A Monocentric, Comparative and Randomized Study on Pressure Ulcers Prevention With Mepilex® Border Sacrum Dressing in Scheduled Cardiovascular Surgery Unknown status NCT03823963 Phase 4
9 Reminerlization Potential of Innovative Biomimetic Material Versus Casein Phosphopeptide-amorphous Calcium Phosphate in Caries White Spot Lesions "A Randomized Clinical Trial" Unknown status NCT03823612 Phase 4 Clinpro Tooth Creme;GC tooth mousse
10 Clinical Trial of the Effectiveness of Chlorhexidine Gluconate 0.125 % Compared With Sterile Deionized Water in the Closure of Diabetic Foot Ulcer Syndrome. Completed NCT02097615 Phase 4
11 Soft and Hard Tissue Stability After Immediate Tooth Replacement With Implant in Fresh Sockets Grafted With Different Soft Tissue Grafts Completed NCT02922075 Phase 4 Post operative medication
12 Effect of Omega-3 Fatty Acid on Vitamin D Activation in Hemodialysis Patients Completed NCT01596842 Phase 4 Omega-3 fatty acid ethylester 90
13 Can Periarticular Knee Injection of Multimodal Agents Levobupivicaine, Morphine, Ketorolac and Adrenaline Improve Postoperative Pain and Function Following Primary Total Knee Arthroplasty? Completed NCT01560767 Phase 4 Femoral Nerve Block;peri-articular infiltration
14 Transepidermal Water Loss (TEWL) and Corneometry With Hydrogel Vehicle in the Treatment of Atopic Dermatitis - A Randomized, Investigator-Blind Pilot Study Completed NCT01065714 Phase 4 Hydrogel vehicle;Eucerin Lotion
15 A 12-week, Multi-center, Randomized, Double-blind, Double Dummy, Parallel Clinical Trial to Compare the Efficacy of γ-linolenic Acid and Thioctic Acid in Patients With Diabetic Neuropathy Completed NCT03914404 Phase 4 γ-linoleic acid and placebo(Thioctic Acid);Thioctic Acid and placebo(γ-linoleic acid)
16 Twice Daily Altabax Application for the Treatment of Uncomplicated Soft Tissue Infection Completed NCT01126268 Phase 4 Retapamulin (Altabax)
17 Target Site Pharmacokinetics of Ertapenem After Multiple Doses in Diabetes Patients With Soft Tissue Infection Completed NCT00658866 Phase 4
18 Skin and Soft Tissue Infection (SSTI) Study Completed NCT02600871 Phase 4 Provodine
19 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
20 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
21 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
22 Pharmacologic Interaction Between Ifosfamide and Aprepitant in Treated Patients With Soft Tissue Sarcoma Completed NCT03514381 Phase 4 Patients starting a treatment with Doxorubicin and Ifosfamide
23 The Effects of a Phytotherapy Agent in Third Molar Surgery: a Split-mouth, Prospective, Randomized Study Completed NCT03335683 Phase 4 Lenidase
24 A Multi-centre, Post CE-mark, Open Study to Evaluate the Performance of Thin Self-adherent Dressing Coated With a Soft Silicone Layer on Subjects With High Risk of Category 2 or Above Pressure Ulceration Completed NCT01438541 Phase 4
25 Safety and Clinical Efficacy of Mouth Rinses in Type 1 and Type 2 Diabetics: Effect on Oral Soft Tissue, Plaque and Gingivitis Completed NCT04449952 Phase 4
26 Effect of Atypical Antipsychotics on Gene Expression in Soft Tissues of Healthy Subjects - A Placebo Controlled Randomised Pilot Study Completed NCT01185743 Phase 4 olanzapine;ziprasidone;placebo
27 Prospective Randomized, Double-blind, Controlled Trial Comparing Lichtenstein's Repair of Inguinal Hernia With Polypropylene Mesh Versus Surgisis ES Soft Tissue Graft Completed NCT00614419 Phase 4
28 Phase 4 Evaluation of SurgiWrapTM to Minimize Soft Tissue Attachment & Reduce the Incidence of Early Post-Operative Bowel Obstruction in Colorectal Surgery Completed NCT00531739 Phase 4
29 The Infected Bone Nonunion and Soft Tissue Defect of Long Bone Treated Simultaneously With Ilizarov Technique Completed NCT00846261 Phase 4
30 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
31 Preoperative Vancomycin Administration for Surgical Site Prophylaxis: Plasma and Soft Tissue Concentrations in Pediatric Neurosurgical and Orthopedic Patients Completed NCT03453684 Phase 4 Administration of Vancomycin
32 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
33 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
34 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
35 Functional Change and Efficacy of Duloxetine in Patients With Major Depression and Co-Morbid Soft Tissue Discomfort Symptoms Completed NCT01035073 Phase 4 Duloxetine
36 A Comparison of Adverse Events and Quality of Life Before and After Switching From Kaletra Soft-Gel Capsules (SGC) to Kaletra Tablets in an African American Cohort Completed NCT00268827 Phase 4 Kaletra soft-gel capsules switched to Kaletra tablets
37 Time To Efficacy and Onset Of Action Of Linezolid In Skin and Soft Tissue Infections Completed NCT00147511 Phase 4 linezolid
38 A Multicenter, Open-Label Study of the Safety and Activity of Saquinavir Soft Gelatin Capsule Formulation (Saquinavir SGC) in Combination With Other Antiretroviral Drugs Completed NCT00002425 Phase 4 Saquinavir
39 Immediate Implant Placement in the Posterior Region Combining Socket Seal Abutment and Alveolar Ridge Preservation: Implant, Hard and Soft Tissue Outcomes After 1 Year Completed NCT04553146 Phase 4
40 A Non-Investigational Post-Market Trial Using EVARREST™ Fibrin Sealant Patch as an Adjunct to Hemostasis in Soft Tissue Bleeding During Intra-Abdominal, Retroperitoneal, Pelvic and Non-Cardiac Thoracic Surgery Completed NCT01902459 Phase 4
41 A Multi-centre, Post CE-mark, Open Investigation to Evaluate the Performance of a Flexible Self-adherent Absorbent Dressing Coated With a Soft Silicone Layer After Hip or Knee Arthroplasty Completed NCT01841567 Phase 4
42 A 7-Day Multicenter Randomized Double-Blind, Double-Dummy Parallel Group Trial to Assess the Safety and Efficacy of 400 mg Lumiracoxib Once Daily Versus 500 mg Naproxen Twice Daily in Patients With Acute Musculoskeletal Pain Due to Uncomplicated Soft Tissue Injury Completed NCT00170898 Phase 4 Lumiracoxib
43 A Phase IV, Non-Comparative Study to Evaluate FORTOVASE (Saquinavir) Soft Gel Capsule (SGC) TID Regimen in Combination With Two NRTI's in HIV-1 Infected Women and Men Completed NCT00002229 Phase 4 Saquinavir
44 Phase IV Randomized Study of Two Dose Levels of Targretin® Capsules in Subjects With Refractory Cutaneous T-Cell Lymphoma Completed NCT01007448 Phase 4 Bexarotene
45 A Double Blind, Randomized Clinical Trial Comparing Postoperative Narcotic Usage in Patients Receiving Periarticular Liposomal Bupivicaine vs. Those Patients Receiving Standard Periarticular Joint Injections Completed NCT02682498 Phase 4 (Bupivacaine Liposome Injectable Suspension);Standard Preparation
46 Predictive Algorithm for Product Selection in the Management of Mid Facial Volume Correction: Part I - A Pilot Validation of Patient Strata Completed NCT03381040 Phase 4
47 Infiltrative Events During Silicone Hydrogel Daily Contact Lens (Daily Wear Corneal Infiltrative Event (DWCIE) Study) Completed NCT00937105 Phase 4
48 Tape Versus Semirigid Versus Lace-up Ankle Support in the Treatment of Acute Lateral Ankle Ligament Injury. Completed NCT01126242 Phase 4
49 Extraction Socket Management Using Connective Tissue Graft Versus Mucograft®: A Randomized Controlled Trial Completed NCT02753153 Phase 4
50 Preoperative Oral Supplementation of Carbohydrate and Branched-Chain Amino Acids-Enriched Nutrient Improves Insulin Resistance in Patients With Hepatectomy; Prospective Randomized Clinical Trial by Using Artificial Pancreas Completed NCT00657124 Phase 4

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

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

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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
Sources

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

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

40
Bone, Skin, Liver, Eye, Prostate, Breast, Thyroid
Sources

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

About this section

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

(show all 12)
# Title Authors PMID Year
1
Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis syndrome is caused by a POC1A mutation. 61 57 6
22840363 2012
2
POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism. 57 6
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. 57 6
22440536 2012
4
Dwarfism, rhizomelic limb shortness, and abnormal face: new short stature syndrome sharing some manifestations with Robinow syndrome. 57
1632447 1992
5
Clinical presentation and molecular characterization of a novel patient with variant POC1A-related syndrome. 61
33372278 2021
6
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patients. 61
31767933 2020
7
SOFT syndrome in a patient from Chile. 61
30569574 2019
8
SOFT Syndrome: The First Case in Iran. 61
30310776 2018
9
A syndromic extreme insulin resistance caused by biallelic POC1A mutations in exon 10. 61
28819016 2017
10
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation. 61
26791357 2016
11
Two novel POC1A mutations in the primordial dwarfism, SOFT syndrome: Clinical homogeneity but also unreported malformations. 61
26374189 2016
12
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis. 61
26162852 2015
Sources

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

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

6 (show all 12)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 POC1A NM_015426.5(POC1A):c.241C>T (p.Arg81Ter) SNV Pathogenic 37062 rs397514487 GRCh37: 3:52183866-52183866
GRCh38: 3:52149850-52149850
2 POC1A NM_015426.5(POC1A):c.512T>C (p.Leu171Pro) SNV Pathogenic 37063 rs397514488 GRCh37: 3:52181055-52181055
GRCh38: 3:52147039-52147039
3 POC1A NM_015426.5(POC1A):c.850dup (p.Glu284fs) Duplication Pathogenic 996335 GRCh37: 3:52159160-52159161
GRCh38: 3:52125144-52125145
4 POC1A NM_015426.5(POC1A):c.593_605del (p.Ser198fs) Deletion Pathogenic 996336 GRCh37: 3:52179936-52179948
GRCh38: 3:52145920-52145932
5 POC1A NM_015426.5(POC1A):c.64G>T (p.Val22Phe) SNV Likely pathogenic 623370 rs918352190 GRCh37: 3:52185071-52185071
GRCh38: 3:52151055-52151055
6 POC1A NM_015426.5(POC1A):c.253G>C (p.Val85Leu) SNV Likely pathogenic 666330 rs112213336 GRCh37: 3:52183854-52183854
GRCh38: 3:52149838-52149838
7 POC1A NM_015426.5(POC1A):c.836T>G (p.Phe279Cys) SNV Uncertain significance 587474 rs1559836324 GRCh37: 3:52159175-52159175
GRCh38: 3:52125159-52125159
8 POC1A NM_015426.5(POC1A):c.784C>T (p.Arg262Trp) SNV Uncertain significance 211926 rs146976547 GRCh37: 3:52172214-52172214
GRCh38: 3:52138198-52138198
9 POC1A NM_015426.5(POC1A):c.82A>G (p.Ser28Gly) SNV Uncertain significance 1029399 GRCh37: 3:52185053-52185053
GRCh38: 3:52151037-52151037
10 POC1A NM_015426.5(POC1A):c.972G>A (p.Met324Ile) SNV Uncertain significance 1029400 GRCh37: 3:52156404-52156404
GRCh38: 3:52122388-52122388
11 POC1A NM_015426.5(POC1A):c.545C>T (p.Ser182Leu) SNV Uncertain significance 1032691 GRCh37: 3:52181022-52181022
GRCh38: 3:52147006-52147006
12 POC1A NM_015426.5(POC1A):c.586C>T (p.His196Tyr) SNV Uncertain significance 1032692 GRCh37: 3:52179955-52179955
GRCh38: 3:52145939-52145939

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

72
# Symbol AA change Variation ID SNP ID
1 POC1A p.Leu171Pro VAR_068884 rs397514488

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

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

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

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

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
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32 ICD10
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57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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