KPTS
MCID: KPR003
MIFTS: 44

Keipert Syndrome (KPTS)

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

Aliases & Classifications for Keipert Syndrome

MalaCards integrated aliases for Keipert Syndrome:

Name: Keipert Syndrome 57 12 20 58 73 36 6 15
Nasodigitoacoustic Syndrome 12 74 20 58 73 44
Kpts 57 12 73
Nasodigitoacoustic Syndrome, Formerly 57
Syndrome, Keipert 39

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
x-linked recessive


HPO:

31

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0111842
OMIM® 57 301026
KEGG 36 H02326
SNOMED-CT 67 763774001
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 72 C1850627
Orphanet 58 ORPHA2662
MedGen 41 C1850627
UMLS 71 C1850627

Summaries for Keipert Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2662DefinitionA rare multiple congenital anomalies syndrome characterized by facial dysmorphism (hypertelorism, broad and high nasal bridge, depressed nasal ridge, short columella, underdeveloped maxilla, and prominent cupid-bow upper lip vermillion), mild to severe congenital sensorineural hearing loss, and skeletal abnormalities consisting of brachytelephalangy and broad thumbs and halluces with large, rounded epiphyses. Additional manifestations that have been reported include pulmonary valve stenosis, voice hoarseness and renal agenesis.Visit the Orphanet disease page for more resources.

MalaCards based summary : Keipert Syndrome, also known as nasodigitoacoustic syndrome, is related to branchiootic syndrome 1 and sensorineural hearing loss. An important gene associated with Keipert Syndrome is GPC4 (Glypican 4), and among its related pathways/superpathways are Wnt signaling pathway and Glycosaminoglycan metabolism. The drugs Sorafenib and Hydroxyurea have been mentioned in the context of this disorder. Affiliated tissues include myeloid, prostate and bone, and related phenotypes are depressed nasal bridge and hypertelorism

Disease Ontology : 12 A syndrome characterized by craniofacial and digital abnormalities, mild to severe congenital sensorineural hearing loss, and variable learning difficulties that has material basis in hemizygous mutation in GPC4 on chromosome Xq26.2.

OMIM® : 57 Keipert syndrome (KPTS) is characterized by craniofacial and digital abnormalities and variable learning difficulties. The distinctive facial appearance includes broad forehead, hypertelorism, prominent nose, wide mouth, and prominent upper lip with cupid's bow configuration. Digital anomalies are also distinctive, with widening of all distal phalanges, particularly of the thumbs and great toes (Amor et al., 2019). (301026) (Updated 05-Mar-2021)

KEGG : 36 Keipert syndrome is a rare, X-linked disorder characterized by craniofacial and digital abnormalities and variable learning difficulties and sensorineural deafness. It has been reported that pathogenic variants in GPC4 cause this disease.

UniProtKB/Swiss-Prot : 73 Keipert syndrome: An X-linked recessive syndrome characterized by craniofacial and digital abnormalities. Clinical features include a prominent forehead, a flat midface, hypertelorism, a broad nose, downturned corners of mouth, and widening of all distal phalanges. Additional variable features are cognitive impairment and sensorineural deafness.

Wikipedia : 74 Nasodigitoacoustic syndrome, also called Keipert syndrome, is a rare congenital syndrome first described... more...

Related Diseases for Keipert Syndrome

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



Diseases related to Keipert Syndrome

Symptoms & Phenotypes for Keipert Syndrome

Human phenotypes related to Keipert Syndrome:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
2 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 sensorineural hearing impairment 58 31 hallmark (90%) Very frequent (99-80%) HP:0000407
4 broad hallux phalanx 58 31 hallmark (90%) Very frequent (99-80%) HP:0010059
5 broad thumb 58 31 hallmark (90%) Very frequent (99-80%) HP:0011304
6 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
7 broad forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000337
8 short hallux 58 31 hallmark (90%) Very frequent (99-80%) HP:0010109
9 short distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009882
10 aplasia/hypoplasia of the distal phalanges of the toes 58 31 hallmark (90%) Very frequent (99-80%) HP:0010185
11 broad distal phalanx of finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0009836
12 macrocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000256
13 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
14 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
15 hypoplasia of the maxilla 58 31 frequent (33%) Frequent (79-30%) HP:0000327
16 clinodactyly of the 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0004209
17 hoarse voice 58 31 frequent (33%) Frequent (79-30%) HP:0001609
18 tented upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0010804
19 aplastic/hypoplastic toenail 58 31 frequent (33%) Frequent (79-30%) HP:0010624
20 exaggerated cupid's bow 58 31 frequent (33%) Frequent (79-30%) HP:0002263
21 abnormality of cardiovascular system morphology 31 frequent (33%) HP:0030680
22 behavioral abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0000708
23 short stature 58 31 occasional (7.5%) Occasional (29-5%) HP:0004322
24 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
25 absent toenail 31 very rare (1%) HP:0001802
26 intellectual disability 31 HP:0001249
27 frontal bossing 31 HP:0002007
28 high palate 31 HP:0000218
29 narrow palate 31 HP:0000189
30 abnormality of the nail 31 HP:0001597
31 prominent forehead 31 HP:0011220
32 malformation of the heart and great vessels 58 Frequent (79-30%)
33 low-set ears 31 HP:0000369
34 short toe 31 HP:0001831
35 brachydactyly 31 HP:0001156
36 downturned corners of mouth 31 HP:0002714
37 pulmonic stenosis 31 HP:0001642
38 midface retrusion 31 HP:0011800
39 wide nose 31 HP:0000445
40 prominent nose 31 HP:0000448
41 thick upper lip vermilion 31 HP:0000215
42 short phalanx of finger 31 HP:0009803
43 abnormality of the pinna 31 HP:0000377
44 clinodactyly 31 HP:0030084
45 broad hallux 31 HP:0010055
46 enlarged epiphyses 31 HP:0010580
47 low hanging columella 31 HP:0009765
48 short 3rd metacarpal 31 HP:0010041
49 rounded epiphyses 31 HP:0006026

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Mar-2021)
Head And Neck Head:
macrocephaly

Head And Neck Eyes:
hypertelorism

Head And Neck Ears:
low-set ears
simple ears
sensorineural hearing loss (in 1 family)

Head And Neck Mouth:
downturned corners of mouth
prominent upper lip
cupid bow upper lip

Skeletal Feet:
clinodactyly
broad halluces
broad distal phalanges

Skin Nails Hair Nails:
absent toenails (rare)

Skeletal Skull:
macrocephaly

Head And Neck Face:
prominent forehead
flat midface

Skeletal Hands:
brachydactyly
clinodactyly
broad thumbs
broad distal phalanges

Head And Neck Nose:
prominent nose
broad nose

Neurologic Central Nervous System:
intellectual disability, mild to moderate

Neurologic Behavioral Psychiatric Manifestations:
autism or autistic traits (in some patients)

Clinical features from OMIM®:

301026 (Updated 05-Mar-2021)

GenomeRNAi Phenotypes related to Keipert Syndrome according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Nuclear 60S biogenesis defects GR00209-A-3 8.62 NUP88 XPO1

Drugs & Therapeutics for Keipert Syndrome

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

(show top 50) (show all 110)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Sorafenib Approved, Investigational Phase 1, Phase 2 284461-73-0 216239 406563
2
Hydroxyurea Approved Phase 2 127-07-1 3657
3
Idarubicin Approved Phase 2 58957-92-9 42890
4
Bortezomib Approved, Investigational Phase 2 179324-69-7 387447 93860
5
Gemcitabine Approved Phase 1, Phase 2 95058-81-4 60750
6
Paclitaxel Approved, Vet_approved Phase 1, Phase 2 33069-62-4 36314
7
Ixazomib Approved, Investigational Phase 1, Phase 2 1072833-77-2
8
Clarithromycin Approved Phase 1, Phase 2 81103-11-9 84029
9
Elotuzumab Approved Phase 1, Phase 2 915296-00-3
10
Doxorubicin Approved, Investigational Phase 1, Phase 2 23214-92-8 31703
11
Azacitidine Approved, Investigational Phase 2 320-67-2 9444
12
Decitabine Approved, Investigational Phase 2 2353-33-5 451668
13
Daratumumab Approved Phase 2 945721-28-8
14
Pomalidomide Approved Phase 2 19171-19-8
15
Cytarabine Approved, Investigational Phase 2 147-94-4 6253
16
Levoleucovorin Approved, Investigational Phase 2 68538-85-2 149436
17
Fludarabine Approved Phase 2 21679-14-1, 75607-67-9 30751
18
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 126941
19
Vidarabine Approved, Investigational Phase 2 24356-66-9 32326 21704
20
Hydrocortisone acetate Approved, Vet_approved Phase 2 50-03-3
21
Hydrocortisone Approved, Vet_approved Phase 2 50-23-7 5754
22
Coal tar Approved Phase 2 8007-45-2
23
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
24 Protein Kinase Inhibitors Phase 1, Phase 2
25 Mitogens Phase 2
26 Immunoglobulins Phase 2
27 PENTA Phase 2
28 Antibodies Phase 2
29 Antibodies, Monoclonal Phase 2
30 Albumin-Bound Paclitaxel Phase 1, Phase 2
31
protease inhibitors Phase 1, Phase 2
32 HIV Protease Inhibitors Phase 1, Phase 2
33 Cytochrome P-450 Enzyme Inhibitors Phase 1, Phase 2
34 Cytochrome P-450 CYP3A Inhibitors Phase 1, Phase 2
35 Antibiotics, Antitubercular Phase 1, Phase 2
36 Anti-Bacterial Agents Phase 1, Phase 2
37
Liposomal doxorubicin Phase 1, Phase 2 31703
38 BB 1101 Phase 2
39 Antirheumatic Agents Phase 2
40 Vitamin B Complex Phase 2
41 Antimetabolites Phase 2
42 Folate Phase 2
43 Vitamin B9 Phase 2
44 Immunosuppressive Agents Phase 2
45 Anti-Infective Agents Phase 2
46 Antiviral Agents Phase 2
47 Folic Acid Antagonists Phase 2
48
Abiraterone acetate Phase 2 154229-18-2 57336518
49 Dermatologic Agents Phase 2
50 Hydrocortisone 17-butyrate 21-propionate Phase 2

Interventional clinical trials:

(show top 50) (show all 56)
# Name Status NCT ID Phase Drugs
1 A Phase 2-3, Multicenter, Randomized, Double-blind Study of Selinexor (KPT-330) Versus Placebo in Patients With Advanced Unresectable Dedifferentiated Liposarcoma (DDLS) Active, not recruiting NCT02606461 Phase 2, Phase 3 Selinexor;Placebo
2 A Phase II Study of Selinexor (KPT-330) in Patients With Advanced Thymic Epithelial Tumour (TET) Progressing After Primary Chemotherapy. Unknown status NCT03466827 Phase 2 Selinexor
3 A Phase 1b/2 Investigator Initiated Study of RCHOP in Combination With Selinexor (KPT-330) in B Cell Non-Hodgkin's Lymphoma Unknown status NCT03147885 Phase 1, Phase 2 Selinexor
4 A Phase 2 Study Evaluating the Efficacy and Safety of Selinexor (KPT-330) in Patients With Recurrent Gliomas Completed NCT01986348 Phase 2 Selinexor
5 Phase I/II, Study of Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330) + Sorafenib in Acute Myeloid Leukemia Completed NCT02530476 Phase 1, Phase 2 Selinexor;Sorafenib
6 A Phase 2 Randomized Single-Blind Study to Evaluate the Activity and Safety of Low Dose Oral Selinexor (KPT-330) in Patients With Severe COVID-19 Infection Completed NCT04349098 Phase 2 Selinexor
7 A Phase II, Open-label Study of Efficacy and Safety of the Selective Inhibitor of Nuclear Export/SINE™ Compound KPT-330 (Selinexor) in Patients With Advanced Gynaecologic Malignancies Completed NCT02025985 Phase 2 Selinexor
8 A Randomized, Open Label, Phase 2 Study of the Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330) Versus Specified Physician's Choice in Patients ≥ 60 Years Old With Relapsed or Refractory Acute Myeloid Leukemia (AML) Who Are Ineligible for Intensive Chemotherapy and/or Transplantation Completed NCT02088541 Phase 2 Selinexor;Hydroxyurea;Ara-C
9 Investigator-Initiated Phase 2 Clinical Trial of Selinexor (KPT-330) for the Treatment of Metastatic Triple Negative Breast Cancer Completed NCT02402764 Phase 2 Selinexor
10 An Investigator-Initiated Study To Evaluate Ara-C and Idarubicin in Combination With the Selective Inhibitor Of Nuclear Export (SINE) Selinexor (KPT-330) in Patients With Relapsed Or Refractory AML Completed NCT02249091 Phase 2 Selinexor;Idarubcin;Cytarabine
11 Investigator Initiated, Phase 2 Clinical Trial of Selinexor (KPT-330) for the Treatment of Poorly Differentiated Lung and Gastroenteropancreatic Tumors Completed NCT02250885 Phase 2 Selinexor
12 A Phase 2b, Open-Label, Single-Arm Study of Selinexor (KPT-330) Plus Low-Dose Dexamethasone (Sd) in Patients With Multiple Myeloma Previously Treated With Lenalidomide, Pomalidomide, Bortezomib, Carfilzomib, and an Anti-CD38 Monoclonal Antibody (mAb) Daratumumab, and Refractory to Prior Treatment With Glucocorticoids, an Immunomodulatory Agent, a Proteasome Inhibitor, and an the Anti-CD38 mAb Daratumumab Completed NCT02336815 Phase 2 Selinexor;Dexamethasone
13 An Investigator-Sponsored, Phase 1/2 Trial of the Oral XPO1 Inhibitor Selinexor (KPT-330) in Combination With Docetaxel for Previously Treated, Advanced KRAS Mutant Non-small Cell Lung Cancer (NSCLC) Recruiting NCT03095612 Phase 1, Phase 2 Selinexor
14 An Open-label, Multicenter, Phase 2 Trial of Selinexor (KPT-330), Bortezomib and Low-dose Dexamethasone Plus Daratumumab (SELIBORDARA) for the Treatment of Patients With Refractory or Relapsed and Refractory Multiple Myeloma Recruiting NCT03589222 Phase 2 Selinexor;Daratumumab;Bortezomib;Dexamethasone
15 Phase Ib Study of the Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330), Gemcitabine and Nab-Paclitaxel and Phase II Study of Gemcitabine and Selinexor in Patients With Metastatic Pancreatic Cancer Recruiting NCT02178436 Phase 1, Phase 2 gemcitabine hydrochloride;Selinexor;Nab paclitaxel
16 A Phase 2, Open-label Study of Selinexor (KPT-330) in Patients With Advanced Thymic Epithelial Tumor (TET) Progressing After Primary Chemotherapy (SELECT) Recruiting NCT03193437 Phase 2 Open Label Selinexor
17 A Phase 1b/2 Study of Selinexor (KPT-330) in Combination With Backbone Treatments for Relapsed/Refractory Multiple Myeloma and Newly Diagnosed Multiple Myeloma Recruiting NCT02343042 Phase 1, Phase 2 Selinexor;Dexamethasone;Lenalidomide;Pomalidomide;Bortezomib;Daratumumab;Carfilzomib;Ixazomib;Elotuzumab;Clarithromycin;Belantamab Mafodotin
18 Investigator-Initiated Phase I/II Clinical Trial of Selinexor (KPT-330) and Liposomal Doxorubicin for Relapsed and Refractory Multiple Myeloma Active, not recruiting NCT02186834 Phase 1, Phase 2 Selinexor;Liposomal doxorubicin;Dexamethasone
19 A Phase 1/2 Open-Label Study of the Safety, Tolerability and Efficacy of the Selective Inhibitor of Nuclear Export (SINE) Compound KPT-8602 in Patients With Relapsed/Refractory Cancer Indications Active, not recruiting NCT02649790 Phase 1, Phase 2 KPT-8602
20 A Phase II Study of the Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330) in Patients With Myelodysplastic Syndromes Active, not recruiting NCT02228525 Phase 2 selinexor (KPT-330)
21 Selinexor (KPT-330) in Patients With Relapsed/Refractory Diffuse Large B-Cell Lymphoma (DLBCL) Active, not recruiting NCT02227251 Phase 2 Selinexor
22 A Phase 2B Study of Selinexor (KPT-330), in Combination With Carfilzomib, Daratumumab or Pomalidomide in Patients With Multiple Myeloma Relapsing on Current Therapy Not yet recruiting NCT04661137 Phase 2 Selinexor 60 MG;Selinexor 80 MG;Selinexor 100 MG;Carfilzomib;Pomalidomide;Daratumumab;Dexamethasone
23 A Phase-2, Open-Label Study of Oral Selinexor (KPT-330) in Patients With Metastatic Castration-Resistant Prostate Cancer (mCRPC) Terminated NCT02146833 Phase 2 Selinexor
24 A Phase 2 Study of the Safety and Anti-tumor Activity of the Oral Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330) in Patients With Initial or Refractory and/or Relapsed Richter's Transformation (RT) Terminated NCT02138786 Phase 2 selinexor
25 Phase II Single Agent Study of Selinexor (KPT-330) in Patients With Metastatic Castration-Resistant Prostate Cancer (mCRPC) and Prior Therapy With Abiraterone and/or Enzalutamide Terminated NCT02215161 Phase 2 Selinexor
26 Multi-center, Phase 2, Open-label Study of Efficacy and Safety of the Selective Inhibitor of Nuclear Export (SINE™) Selinexor (KPT-330) in Patients With Relapsed or Refractory Peripheral T-cell Lymphoma (PTCL) and Cutaneous T-cell Lymphoma (CTCL) Terminated NCT02314247 Phase 2 Selinexor
27 A Phase I/II Study of the Selective Inhibitor of Nuclear Export Selinexor (KPT-330) in Combination With Fludarabine and Cytarabine in Patients With Refractory or Relapsed Leukemia or Myelodysplastic Syndrome Terminated NCT03071276 Phase 2 Selinexor;Fludarabine;Cytarabine;methotrexate/hydrocortisone/cytarabine
28 A Phase 2, Open-Label Study of the Safety and Efficacy of the Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330) in Patients With Advanced Squamous Cell Carcinoma of the Head and Neck, Lung, or Esophagus Terminated NCT02213133 Phase 2 Selinexor (KPT-330)
29 An Investigator-Sponsored Phase 2 Study of Single Agent Selinexor (KPT-330) in Patients With Relapsed Small Cell Lung Cancer Terminated NCT02351505 Phase 2 Selinexor
30 Phase 2, Randomized, Double-blind, Placebo-controlled, Multicenter Study of Selinexor (KPT-330), Carfilzomib, and Dexamethasone in Patients With Relapsed/Refractory Multiple Myeloma Previously Treated With a Proteasome Inhibitor and an Immunomodulatory Drug Withdrawn NCT02628704 Phase 2 Selinexor;Placebo (for selinexor);carfilzomib;Dexamethasone
31 An Investigator-Sponsored Phase 1/2 Study of Selinexor (KPT-330) and Docetaxel as Second Line Therapy in Patients With Relapsed Squamous Cell Lung Cancer Withdrawn NCT02536495 Phase 1, Phase 2 Docetaxel;Selinexor
32 A Multi-Center, Phase 1/2, Open-Label Study of Selinexor (KPT- 330), Lenalidomide, and Dexamethasone in Patients With Relapsed/Refractory Multiple Myeloma Withdrawn NCT02389543 Phase 1, Phase 2 Selinexor;Lenalidomide;Dexamethasone
33 A Phase 2, Open-Label, Single Arm Study Evaluating the Efficacy and Safety of the Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330) in Patients With Erythropoietin (EPO)-Refractory Lower-Risk Myelodysplastic Syndrome (MDS) Withdrawn NCT02431351 Phase 2 Selinexor
34 A Phase 1 Expansion Cohort Evaluating the Selective Inhibitor of Nuclear Export (SINE) KPT-330 in Patients With Unresectable Melanoma Unknown status NCT02120222 Phase 1 selinexor
35 An Investigator Sponsored Phase I Study of the Safety, Pharmacokinetics and Pharmacodynamics of Escalating Doses Followed by Dose Expansion of the Selective Inhibitor of Nuclear Export (SINE) Selinexor (KPT-330) in Asian Patients With Advanced or Metastatic Solid Tumor Malignancies Completed NCT02078349 Phase 1 KPT-330
36 A Phase I Study of the Safety, Pharmacokinetics and Pharmacodynamics of Escalating Doses of the Selective Inhibitor of Nuclear Export/SINE Compound KPT-330 in Patients With Advanced or Metastatic Solid Tumor Malignancies Completed NCT01607905 Phase 1 KPT-330
37 Phase I Study of Decitabine (Dacogen) and Selinexor (KPT-330) in Acute Myeloid Leukemia Completed NCT02093403 Phase 1 decitabine;selinexor
38 An Open-Label Phase IB Trial To Evaluate the Effects of Food and Formulation on Pharmacokinetics of the Oral Selective Inhibitor of Nuclear Export/SINE Compound KPT-330 in Patients With Soft-Tissue or Bone Sarcoma Completed NCT01896505 Phase 1 KCP-330
39 An Investigator Sponsored Phase I Trial of Selinexor (KPT-330) Plus FLAG-Ida for the Treatment of Relapsing/Refractory AML Completed NCT03661515 Phase 1 Selinexor;fludarabine;idarubicin;cytarabine;G-CSF
40 A Phase I Study of the Safety, Pharmacokinetics and Pharmacodynamics of Escalating Doses of the Selective Inhibitor of Nuclear Export/SINE™ Compound KPT-330 in Patients With Advanced Hematological Malignancies Completed NCT01607892 Phase 1 KPT-330
41 An Investigator-Initiated Phase I Study of Selinexor (KPT-330), Ixazomib, and Low Dose Dexamethasone in Patients With Relapsed and/or Refractory Multiple Myeloma Completed NCT02831686 Phase 1 Selinexor;Ixazomib;Dexamethasone
42 An Investigator Initiated Phase 1 Trial To Evaluate mFOLFOX6 With Selinexor (KPT-330), An Oral Selective Inhibitor Of Nuclear Export (SINE), In Patients With Metastatic Colorectal Cancer Completed NCT02384850 Phase 1 Selinexor;Oxaliplatin;5-FU;Folinic Acid
43 A Phase I/II Study of the Selective Inhibitor of Nuclear Export Selinexor (KPT-330) in Combination With Fludarabine and Cytarabine in Patients With Refractory or Relapsed Leukemia or Myelodysplastic Syndrome Completed NCT02212561 Phase 1 Selinexor;Fludarabine;Cytarabine;methotrexate/hydrocortisone/cytarabine
44 A Phase 1, Randomized, Double-Blind, Placebo-Controlled, Sequential, Dose-Escalating Trial to Evaluate the Safety and Tolerability of Oral Verdinexor (KPT-335) in Healthy Adult Subjects Completed NCT02431364 Phase 1 Verdinexor
45 A Phase 1 Open-Label Study of the Safety, Tolerability and Efficacy of KPT-9274, a Dual Inhibitor of PAK4 and NAMPT, in Patients With Advanced Solid Malignancies or Non-Hodgkin's Lymphoma Recruiting NCT02702492 Phase 1 KPT-9274;Niacin ER;Nivolumab
46 Phase Ib Trial of Low-Dose Selinexor (KPT-330) in Combination With Choline Salicylate (CS) for the Treatment of Patients With Residual/Relapsed/Refractory Non-Hodgkin Lymphoma (NHL) Recruiting NCT04640779 Phase 1 Choline Salicylate;Selinexor
47 Phase IB Study to Evaluate the Safety of Selinexor (KPT-330) in Combination With Multiple Standard Chemotherapy or Immunotherapy Agents in Patients With Advanced Malignancies Recruiting NCT02419495 Phase 1 Capecitabine;Carboplatin;Cyclophosphamide;Doxorubicin Hydrochloride;Eribulin Mesylate;Fluorouracil;Irinotecan Hydrochloride;Leucovorin Calcium;Olaparib;Oxaliplatin;Paclitaxel;Pemetrexed Disodium;Selinexor;Topotecan Hydrochloride
48 A Phase 1 Study of Selinexor (KPT-330), A Selective XPO1 Inhibitor, in Recurrent and Refractory Pediatric Solid Tumors, Including CNS Tumors Recruiting NCT02323880 Phase 1 Selinexor
49 A Phase 1 Open-label Study of the Selective Inhibitor of Nuclear Export, Selinexor (KPT-330) in Combination With Paclitaxel and Carboplatin in Patients With Advanced Ovarian or Endometrial Cancers Recruiting NCT02269293 Phase 1 Paclitaxel;Carboplatin;Selinexor
50 A Phase I Clinical Trial of Selinexor (KPT-330) in Combination With Temozolomide and Radiation Therapy in Patients With Newly Diagnosed Glioblastoma Recruiting NCT04216329 Phase 1 Selinexor;Temozolomide

Search NIH Clinical Center for Keipert Syndrome

Cochrane evidence based reviews: nasodigitoacoustic syndrome

Genetic Tests for Keipert Syndrome

Anatomical Context for Keipert Syndrome

MalaCards organs/tissues related to Keipert Syndrome:

40
Myeloid, Prostate, Bone, Heart

Publications for Keipert Syndrome

Articles related to Keipert Syndrome:

# Title Authors PMID Year
1
Pathogenic Variants in GPC4 Cause Keipert Syndrome. 61 57 6
30982611 2019
2
A new syndrome of broad terminal phalanges and facial abnormalities. 6 57
4708024 1973
3
A patient with Keipert syndrome and isolated fibrous dysplasia of the sphenoid sinus. 57 61
21567928 2011
4
Keipert syndrome: two further cases and review of the literature. 61 57
18541962 2008
5
Keipert syndrome (Nasodigitoacoustic syndrome) is X-linked and maps to Xq22.2-Xq28. 61 57
17726694 2007
6
Daughter and her mildly affected father with Keipert syndrome. 57 61
17036315 2006
7
Broad thumbs and halluces with deafness: a patient with Keipert syndrome. 61 57
12605449 2003
8
Keipert syndrome in two brothers from Turkey. 61 57
9001804 1996
9
Additional case of Keipert syndrome and review of the literature. 61
11208408 2000

Variations for Keipert Syndrome

ClinVar genetic disease variations for Keipert Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 GPC4 NM_001448.3(GPC4):c.1516C>T (p.Gln506Ter) SNV Pathogenic 547175 rs1556022641 X:132437050-132437050 X:133303022-133303022
2 GPC4 NM_001448.3(GPC4):c.701dup (p.Val235fs) Duplication Pathogenic 547176 rs1556025980 X:132458182-132458183 X:133324154-133324155
3 GPC4 NM_001448.3(GPC4):c.1486G>T (p.Glu496Ter) SNV Pathogenic 547177 rs1556022644 X:132437080-132437080 X:133303052-133303052
4 GPC4 NM_001448.3(GPC4):c.316del (p.Asp106fs) Deletion Pathogenic 547178 rs1556028269 X:132473214-132473214 X:133339186-133339186
5 GPC4 NM_001448.3(GPC4):c.1518_1521dup (p.Pro508fs) Duplication Pathogenic 626360 rs1569339879 X:132437044-132437045 X:133303016-133303017
6 GPC4 NM_001448.3(GPC4):c.742del (p.Leu248fs) Deletion Pathogenic 626361 rs1569341521 X:132445421-132445421 X:133311393-133311393

Expression for Keipert Syndrome

Search GEO for disease gene expression data for Keipert Syndrome.

Pathways for Keipert Syndrome

Pathways related to Keipert Syndrome according to KEGG:

36
# Name Kegg Source Accession
1 Wnt signaling pathway hsa04310

GO Terms for Keipert Syndrome

Cellular components related to Keipert Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 host cell GO:0043657 8.62 XPO1 NUP88

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

# Name GO ID Score Top Affiliating Genes
1 mRNA transport GO:0051028 9.32 XPO1 NUP88
2 intracellular transport of virus GO:0075733 9.26 XPO1 NUP88
3 nucleocytoplasmic transport GO:0006913 9.16 XPO1 NUP88
4 ribosomal small subunit export from nucleus GO:0000056 8.96 XPO1 NUP88
5 ribosomal large subunit export from nucleus GO:0000055 8.62 XPO1 NUP88

Sources for Keipert Syndrome

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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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