CFZS
MCID: CRY032
MIFTS: 46

Carey-Fineman-Ziter Syndrome (CFZS)

Categories: Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Carey-Fineman-Ziter Syndrome

MalaCards integrated aliases for Carey-Fineman-Ziter Syndrome:

Name: Carey-Fineman-Ziter Syndrome 57 12 20 58 73 36 15
Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 20 29 6
Cfzs 57 20 73
Myopathy, Congenital Nonprogressive, with Moebius Sequence and Robin Sequence 57 73
Myopathy, Congenital Nonprogressive with Moebius and Robin Sequences 20 71
Myopathy-Moebius-Robin Syndrome 20 58
Cfz Syndrome 20 73
Congenital Non-Progressive Myopathy with Moebius and Robin Sequences 73
Moebius Sequence, Robin Complex, and Hypotonia 20
Syndrome, Carey-Fineman-Ziter 39
Carey Fineman Ziter Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
carey-fineman-ziter syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive

Miscellaneous:
slowly progressive
onset in infancy or in late teen years


HPO:

31
carey-fineman-ziter syndrome:
Inheritance autosomal recessive inheritance
Onset and clinical course infantile onset slow progression


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


Summaries for Carey-Fineman-Ziter Syndrome

OMIM® : 57 Carey-Fineman-Ziter syndrome (CFZS) is a multisystem congenital disorder characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive. More variable features include dysmorphic facial features, brain abnormalities, and intellectual disability. It has been postulated that many clinical features in CFZS may be secondary effects of muscle weakness during development or brainstem anomalies (summary by Pasetti et al., 2016). Di Gioia et al. (2017) determined that CFZS represents a slowly progressive congenital myopathy resulting from a defect in myoblast fusion. (254940) (Updated 05-Mar-2021)

MalaCards based summary : Carey-Fineman-Ziter Syndrome, also known as congenital nonprogressive myopathy with moebius and robin sequences, is related to myopathy, congenital, bailey-bloch and moebius syndrome, and has symptoms including ophthalmoplegia and facial paresis. An important gene associated with Carey-Fineman-Ziter Syndrome is MYMK (Myomaker, Myoblast Fusion Factor). The drugs Clofazimine and Moxifloxacin have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle, cerebellum and tongue, and related phenotypes are ptosis and facial palsy

Disease Ontology : 12 A syndrome characterized by hypotonia, Moebius sequence (bilateral congenital facial palsy with impairment of ocular abduction), Pierre Robin complex (micrognathia, glossoptosis, and high-arched or cleft palate), delayed motor milestones, and failure to thrive.

GARD : 20 Carey-Fineman-Ziter syndrome (CFZS) is a very rare genetic muscular disorder present at birth (congenital myopathy) characterized by facial weakness or paralysis, and a small or retracted chin and cleft palate (Pierre-Robin sequence), among other symptoms. CFZS is caused by mutations in the gene MYMK that encodes a protein necessary for muscle development. Treatment depends on the symptoms. In one case report a patient with scoliosis was treated with a rod placement.

KEGG : 36 Carey-Fineman-Ziter syndrome (CFZS) is a rare multiple congenital anomalies syndrome defined by a combination of Pierre Robin syndrome and Moebius syndrome, associated with hypotonia and various other malformations. Pierre Robin syndrome is characterized by a triad of micrognathia, glossoptosis and a U-shaped cleft palate. Moebius syndrome is characterized by congenital palsy of the 6th and 7th cranial nerves. It has been reported that autosomal recessive mutations in MYMK cause CFZS. Myomaker, encoded by MYMK, is expressed on the cell surface of myoblasts during fusion. Fusion of myoblasts is essential for the formation of multi-nucleated muscle fibres.

UniProtKB/Swiss-Prot : 73 Carey-Fineman-Ziter syndrome: An autosomal recessive multisystem disorder characterized by hypotonia, bilateral congenital facial palsy with impairment of ocular abduction (Moebius sequence), micrognathia, glossoptosis and high- arched or cleft palate (Pierre Robin complex), delayed motor milestones, and failure to thrive.

Wikipedia : 74 Carey Fineman Ziter syndrome is a rare genetic condition. Fewer than 10 cases have been reported in the... more...

Related Diseases for Carey-Fineman-Ziter Syndrome

Graphical network of the top 20 diseases related to Carey-Fineman-Ziter Syndrome:



Diseases related to Carey-Fineman-Ziter Syndrome

Symptoms & Phenotypes for Carey-Fineman-Ziter Syndrome

Human phenotypes related to Carey-Fineman-Ziter Syndrome:

58 31 (show top 50) (show all 65)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 ptosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000508
2 facial palsy 58 31 hallmark (90%) Very frequent (99-80%) HP:0010628
3 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
4 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
5 skeletal muscle atrophy 58 31 hallmark (90%) Very frequent (99-80%) HP:0003202
6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347
7 epicanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000286
8 downslanted palpebral fissures 58 31 hallmark (90%) Very frequent (99-80%) HP:0000494
9 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 thin vermilion border 58 31 hallmark (90%) Very frequent (99-80%) HP:0000233
12 aplasia/hypoplasia of the tongue 58 31 hallmark (90%) Very frequent (99-80%) HP:0010295
13 pierre-robin sequence 58 31 hallmark (90%) Very frequent (99-80%) HP:0000201
14 impaired ocular abduction 58 31 hallmark (90%) Very frequent (99-80%) HP:0000634
15 hypotonia 31 hallmark (90%) HP:0001252
16 intellectual disability 58 31 occasional (7.5%) Frequent (79-30%) HP:0001249
17 scoliosis 58 31 frequent (33%) Frequent (79-30%) HP:0002650
18 high palate 58 31 frequent (33%) Frequent (79-30%) HP:0000218
19 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
20 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
21 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
22 talipes equinovarus 58 31 frequent (33%) Frequent (79-30%) HP:0001762
23 glossoptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000162
24 cerebral calcification 58 31 occasional (7.5%) Occasional (29-5%) HP:0002514
25 myopathy 58 31 occasional (7.5%) Occasional (29-5%) HP:0003198
26 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
27 aplasia/hypoplasia of the cerebellum 58 31 occasional (7.5%) Occasional (29-5%) HP:0007360
28 ventriculomegaly 58 31 occasional (7.5%) Occasional (29-5%) HP:0002119
29 hypertensive crisis 58 31 occasional (7.5%) Occasional (29-5%) HP:0100735
30 ulnar deviation of finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0009465
31 aplasia of the pectoralis major muscle 58 31 occasional (7.5%) Occasional (29-5%) HP:0009751
32 glandular hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000807
33 laryngeal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001602
34 global developmental delay 31 occasional (7.5%) HP:0001263
35 cataract 31 very rare (1%) HP:0000518
36 glaucoma 31 very rare (1%) HP:0000501
37 growth delay 58 31 Frequent (79-30%) HP:0001510
38 macrocephaly 31 HP:0000256
39 failure to thrive 31 HP:0001508
40 dysphagia 31 HP:0002015
41 muscular hypotonia 58 Very frequent (99-80%)
42 respiratory insufficiency 31 HP:0002093
43 depressed nasal bridge 31 HP:0005280
44 flexion contracture 31 HP:0001371
45 gastroesophageal reflux 31 HP:0002020
46 cranial nerve paralysis 58 Frequent (79-30%)
47 cryptorchidism 31 HP:0000028
48 retrognathia 31 HP:0000278
49 elevated serum creatine kinase 31 HP:0003236
50 motor delay 31 HP:0001270

Symptoms via clinical synopsis from OMIM®:

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

Skeletal Spine:
scoliosis

Head And Neck Face:
facial palsy
retrognathia
micrognathia
mandibular hypoplasia
facial muscle weakness
more
Muscle Soft Tissue:
myopathy
hypotonia
muscle atrophy
myopathic changes seen on emg
fatty replacement
more
Genitourinary External Genitalia Male:
cryptorchidism

Chest External Features:
pectoralis hypoplasia

Skeletal:
joint contractures

Laboratory Abnormalities:
increased serum creatine kinase

Head And Neck Neck:
thin neck

Respiratory:
respiratory insufficiency (1 patient)

Prenatal Manifestations Movement:
decreased fetal movements

Growth Other:
failure to thrive
growth delay

Head And Neck Eyes:
ptosis
ophthalmoplegia
oculomotor nerve palsy
downslanting palpebral fissures
epicanthal folds
more
Abdomen Gastrointestinal:
gastroesophageal reflux
feeding difficulties
poor swallowing
absent swallowing
alternating diarrhea and constipation (in 1 patient)

Head And Neck Mouth:
cleft palate
glossoptosis
hypoglossia
limited mouth opening

Head And Neck Nose:
broad nasal tip
upturned nose
flat nasal root

Neurologic Central Nervous System:
delayed motor development
enlarged ventricles (in some patients)
independent ambulation is achieved
intellectual disability (in some patients)
reduced white matter (in some patients)
more
Skeletal Feet:
clubfeet
distal contractures

Skeletal Hands:
tapering fingers
distal contractures

Cardiovascular Heart:
septal defects (1 patient)

Respiratory Larynx:
laryngostenosis (1 patient)

Clinical features from OMIM®:

254940 (Updated 05-Mar-2021)

UMLS symptoms related to Carey-Fineman-Ziter Syndrome:


ophthalmoplegia, facial paresis

Drugs & Therapeutics for Carey-Fineman-Ziter Syndrome

Drugs for Carey-Fineman-Ziter Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 70)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Clofazimine Approved, Investigational Phase 4 2030-63-9 2794
2
Moxifloxacin Approved, Investigational Phase 4 151096-09-2, 354812-41-2 152946
3
Pyrazinamide Approved, Investigational Phase 4 98-96-4 1046
4
Ethambutol Approved Phase 4 74-55-5 3279 14052
5
Isoniazid Approved, Investigational Phase 4 54-85-3 3767
6
Ofloxacin Approved Phase 4 82419-36-1 4583
7
Bedaquiline Approved Phase 4 843663-66-1
8
Linezolid Approved, Investigational Phase 4 165800-03-3 441401
9
Levofloxacin Approved, Investigational Phase 4 100986-85-4 149096
10
Rifampicin Approved Phase 4 13292-46-1 5458213 5381226
11
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
12
Ritonavir Approved, Investigational Phase 4 155213-67-5 392622
13
Rifabutin Approved, Investigational Phase 4 72559-06-9 6323490 46783538
14
Dolutegravir Approved Phase 4 1051375-16-6 54726191
15
Lopinavir Approved Phase 4 192725-17-0 92727
16
Cobicistat Approved Phase 4 1004316-88-4
17
Tenofovir Experimental, Investigational Phase 4 147127-20-6 464205
18 Anti-Infective Agents Phase 4
19 Norgestimate, ethinyl estradiol drug combination Phase 4
20 Cytochrome P-450 Enzyme Inhibitors Phase 4
21 Antitubercular Agents Phase 4
22 Anti-HIV Agents Phase 4
23 HIV Protease Inhibitors Phase 4
24 Reverse Transcriptase Inhibitors Phase 4
25 Antiviral Agents Phase 4
26 HIV Integrase Inhibitors Phase 4
27
protease inhibitors Phase 4
28 Anti-Retroviral Agents Phase 4
29 Integrase Inhibitors Phase 4
30 Cytochrome P-450 CYP3A Inhibitors Phase 4
31 Atazanavir Sulfate Phase 4
32 Hypolipidemic Agents Phase 3
33 Antimetabolites Phase 3
34 Lipid Regulating Agents Phase 3
35 Fluoroquinolones Phase 3
36 Anti-Inflammatory Agents Phase 2, Phase 3
37 Anti-Bacterial Agents Phase 2, Phase 3
38 Oxazolidinones Phase 2, Phase 3
39
Daratumumab Approved Phase 1, Phase 2 945721-28-8
40
Calcium carbonate Approved, Investigational Phase 1, Phase 2 471-34-1
41
Bortezomib Approved, Investigational Phase 1, Phase 2 179324-69-7 387447 93860
42
Dexamethasone acetate Approved, Investigational, Vet_approved Phase 2 1177-87-3
43
Cisplatin Approved Phase 2 15663-27-1 84093 441203 2767
44
Etoposide Approved Phase 2 33419-42-0 36462
45
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
46
Dexamethasone Approved, Investigational, Vet_approved Phase 2 50-02-2 5743
47
Melphalan Approved Phase 1, Phase 2 148-82-3 4053 460612
48
Lenograstim Approved, Investigational Phase 1, Phase 2 135968-09-1
49 BB 1101 Phase 1, Phase 2
50 Immunoglobulins Phase 1, Phase 2

Interventional clinical trials:

(show all 11)
# Name Status NCT ID Phase Drugs
1 Pilot Clinical Trial of PRS TB Regimen I - Phase II Completed NCT03561753 Phase 4 Group A (the standard 2HRZE/4HR regimen);Group B (New short course PRS regimen, 4EZ(high dose)PtoCfz)
2 Pharmacokinetic Properties of Antiretroviral and Anti-Tuberculosis Drugs During Pregnancy and Postpartum Not yet recruiting NCT04518228 Phase 4 Bictegravir (BIC);Tenofovir alafenamide (TAF);Cabotegravir (CAB);Dolutegravir (DTG);Atazanavir/ritonavir (ATV/r);Darunavir/ritonavir (DRV/r);Lopinavir/ritonavir (LPV/r);Cobicistat;Ritonavir;First-Line TB Treatment;Second-Line TB Treatment;Doravirine (DOR)
3 An Open Label, Randomized Controlled Trial to Establish the Efficacy and Safety of a Study Strategy Consisting of 6 Months of Bedaquiline (BDQ), Delamanid (DLM), and Linezolid (LNZ), With Levofloxacin (LVX) and Clofazimine (CFZ) Compared to the Current South African Standard of Care (Control Strategy) for 9 Months for the Treatment of Rifampicin Resistant Tuberculosis (RR-TB) Recruiting NCT04062201 Phase 3 Bedaquiline Oral Tablet;Linezolid Oral Tablet;Delamanid in Oral Dosage Form;Clofazimine Oral Product;Levofloxacin Oral Tablet;Isoniazid Oral Product;Ethambutol Oral Product;Pyrazinamide Oral Product;Linezolid Oral Tablet;Clofazimine Oral Product;Levofloxacin Oral Tablet
4 Pharmacokinetics and Pharmacodynamics Sub-study for TB-PRACTECAL Clinical Trial ( PRACTECAL-PKPD) Recruiting NCT04081077 Phase 2, Phase 3 Bedaquiline;Pretomanid;Moxifloxacin;Linezolid;Clofazimine
5 Economic Evaluation of New MDR TB Regimens (PRACTECAL EE) Not yet recruiting NCT04207112 Phase 2, Phase 3 Bedaquiline;Pretomanid;Moxifloxacin;Linezolid;Clofazimine;Standard Drugs
6 A Phase 1b/2a Multicenter, Open-label, Dose-escalation Study to Determine the Maximum Tolerated Dose, Assess the Safety, Tolerability, Pharmacokinetics and Efficacy of CC-220 as Monotherapy and in Combination With Other Treatments in Subjects With Multiple Myeloma Recruiting NCT02773030 Phase 1, Phase 2 CC-220;Dexamethasone;Daratumumab - 16mg/kg;Bortezomib (BTZ);Carfilzomib;Daratumumab- 1800mg
7 A Phase II Trial For High-Risk Myeloma Evaluating Accelerating and Sustaining Complete Remission (AS-CR) by Applying Non-Host -Exhausting and Timely Dose-Reduced Mel-80-CFZ-TD-Pace Transplant(s) With Interspersed Mel-20-CFZ-TD-Pace With CFZ-RD and CFZ-D Maintenance Active, not recruiting NCT02128230 Phase 2 MEL-CFZ-TD-PACE
8 Phase I / II Study Of Carfilzomib (CFZ) Intensification Early After Autologous Transplantation (AHCT) For Plasma Cell Myeloma Terminated NCT01658904 Phase 1, Phase 2 Carfilzomib;Melphalan;Filgrastim
9 A Phase 2A, Randomized, Double-Blind, Placebo-Controlled Evaluation of the Safety, Tolerability, Pharmacokinetics and Efficacy of Clofazimine (CFZ) in Cryptosporidiosis Terminated NCT03341767 Phase 2 Clofazimine;Placebo
10 Effectiveness of a Simplified Short Regimen for Multidrug Resistant Tuberculosis Treatment in Karakalpakstan, Uzbekistan Unknown status NCT02496572 Short course MDR-TB treatment regimen
11 The Effect of New MDR-TB Regimen With 18 Month Duration Containing 6 Anti-tuberculosis Drugs Recruiting NCT03830671 18-month regimen containing 6 anti-TB drugs

Search NIH Clinical Center for Carey-Fineman-Ziter Syndrome

Genetic Tests for Carey-Fineman-Ziter Syndrome

Genetic tests related to Carey-Fineman-Ziter Syndrome:

# Genetic test Affiliating Genes
1 Congenital Nonprogressive Myopathy with Moebius and Robin Sequences 29 MYMK

Anatomical Context for Carey-Fineman-Ziter Syndrome

MalaCards organs/tissues related to Carey-Fineman-Ziter Syndrome:

40
Skeletal Muscle, Cerebellum, Tongue, Adipocyte

Publications for Carey-Fineman-Ziter Syndrome

Articles related to Carey-Fineman-Ziter Syndrome:

(show all 18)
# Title Authors PMID Year
1
Whole-exome sequencing identifies mutations in MYMK in a mild form of Carey-Fineman-Ziter syndrome. 57 61 6
29560417 2018
2
A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome. 6 57 61
28681861 2017
3
The Robin sequence as a consequence of malformation, dysplasia, and neuromuscular syndromes. 6 57
7131178 1982
4
Temporomandibular joint ankylosis as part of the clinical spectrum of Carey-Fineman-Ziter syndrome? 61 57
27232676 2016
5
Möbius sequence, Robin complex, and hypotonia: severe expression of brainstem disruption spectrum versus Carey-Fineman-Ziter syndrome. 57 61
15150779 2004
6
Severe congenital myopathy with Möbius, Robin, and Poland sequences: new aspects of the Carey-Fineman-Ziter syndrome. 61 57
15150781 2004
7
The Carey-Fineman-Ziter syndrome: follow-up of the original siblings and comments on pathogenesis. 61 57
15150782 2004
8
Carey-Fineman-Ziter (CFZ) syndrome: report on affected sibs. 57 61
9934972 1999
9
Congenital nonprogressive myopathy with Möbius and Robin sequence--the Carey-Fineman-Ziter syndrome: a confirmatory report. 61 57
8362917 1993
10
Myomaker is a membrane activator of myoblast fusion and muscle formation. 57
23868259 2013
11
Pontine hypoplasia in Carey-Fineman-Ziter (CFZ) syndrome. 57
15150780 2004
12
Differentiating Moebius syndrome and other congenital facial weakness disorders with electrodiagnostic studies. 61
33389762 2021
13
Carey-Fineman-Ziter Syndrome: A MYMK-Related Myopathy Mimicking Brainstem Dysgenesis. 61
32333597 2020
14
Knockout of myomaker results in defective myoblast fusion, reduced muscle growth and increased adipocyte infiltration in zebrafish skeletal muscle. 61
30016436 2018
15
Carey-Fineman-Ziter syndrome with mutations in the myomaker gene and muscle fiber hypertrophy. 61
30065953 2018
16
High tolerance of and removal of cefazolin sodium in single-chamber microbial fuel cells operation. 61
29040863 2018
17
Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome. 61
28777491 2017
18
New case of the Carey-Fineman-Ziter syndrome. 61
7856641 1994

Variations for Carey-Fineman-Ziter Syndrome

ClinVar genetic disease variations for Carey-Fineman-Ziter Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 MYMK NM_001080483.3(MYMK):c.2T>A (p.Met1Lys) SNV Pathogenic 430842 rs1131692248 9:136389965-136389965 9:133524843-133524843
2 MYMK NM_001080483.3(MYMK):c.461T>C (p.Ile154Thr) SNV Pathogenic 430843 rs1131692249 9:136380668-136380668 9:133515546-133515546
3 MYMK NM_001080483.3(MYMK):c.553T>C (p.Cys185Arg) SNV Pathogenic 430840 rs1131692247 9:136379871-136379871 9:133514749-133514749
4 MYMK NM_001080483.3(MYMK):c.298G>A (p.Gly100Ser) SNV Pathogenic 430841 rs964335184 9:136384097-136384097 9:133518975-133518975
5 MYMK NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) SNV Pathogenic/Likely pathogenic 430839 rs137868995 9:136384124-136384124 9:133519002-133519002
6 MYMK NM_001080483.3(MYMK):c.305T>C (p.Leu102Pro) SNV Likely pathogenic 870390 9:136384090-136384090 9:133518968-133518968
7 MYMK NM_001080483.3(MYMK):c.399+5G>A SNV Uncertain significance 813960 rs755976471 9:136383991-136383991 9:133518869-133518869
8 MYMK NM_001080483.3(MYMK):c.482_483insCCCA (p.Ala162fs) Insertion Uncertain significance 986372 9:136380646-136380647 9:133515524-133515525
9 MYMK NM_001080483.3(MYMK):c.481G>C (p.Gly161Arg) SNV Uncertain significance 989380 9:136380648-136380648 9:133515526-133515526

UniProtKB/Swiss-Prot genetic disease variations for Carey-Fineman-Ziter Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 MYMK p.Gly100Ser VAR_079263 rs964335184
2 MYMK p.Ile154Thr VAR_079264 rs113169224
3 MYMK p.Cys185Arg VAR_079265 rs113169224

Expression for Carey-Fineman-Ziter Syndrome

Search GEO for disease gene expression data for Carey-Fineman-Ziter Syndrome.

Pathways for Carey-Fineman-Ziter Syndrome

GO Terms for Carey-Fineman-Ziter Syndrome

Cellular components related to Carey-Fineman-Ziter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 integral component of plasma membrane GO:0005887 9.1 STAB2 PLXND1 PGAP6 MYMK ADGRB3 ADGRB1

Biological processes related to Carey-Fineman-Ziter Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 muscle organ development GO:0007517 9.16 MYMK ADGRB1
2 positive regulation of synapse assembly GO:0051965 8.96 ADGRB3 ADGRB1
3 myoblast fusion GO:0007520 8.62 MYMK ADGRB3

Sources for Carey-Fineman-Ziter 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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