CRS4
MCID: CRN221
MIFTS: 30

Craniosynostosis 4 (CRS4) malady

Categories: Genetic diseases, Bone diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Craniosynostosis 4

Aliases & Descriptions for Craniosynostosis 4:

Name: Craniosynostosis 4 54 66 29 69
Familial Lambdoid Synostosis 56
Crs4 66

Characteristics:

HPO:

32
craniosynostosis 4:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 54 600775
Orphanet 56 ORPHA3267
ICD10 via Orphanet 34 Q75.0
MeSH 42 D003398

Summaries for Craniosynostosis 4

OMIM : 54 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that... (600775) more...

MalaCards based summary : Craniosynostosis 4, also known as familial lambdoid synostosis, is related to erf-related craniosynostosis and craniosynostosis, type 1, and has symptoms including hydrocephalus, intellectual disability and muscular hypotonia. An important gene associated with Craniosynostosis 4 is ERF (ETS2 Repressor Factor). The drugs Tranexamic Acid and Antifibrinolytic Agents have been mentioned in the context of this disorder. Affiliated tissues include brain, bone and pituitary.

UniProtKB/Swiss-Prot : 66 Craniosynostosis 4: A primary abnormality of skull growth involving premature fusion of one or more cranial sutures. The growth velocity of the skull often cannot match that of the developing brain resulting in an abnormal head shape and, in some cases, increased intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability.

Related Diseases for Craniosynostosis 4

Symptoms & Phenotypes for Craniosynostosis 4

Symptoms by clinical synopsis from OMIM:

600775

Clinical features from OMIM:

600775

Human phenotypes related to Craniosynostosis 4:

56 32 (show all 28)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hydrocephalus 56 32 Occasional (29-5%) HP:0000238
2 intellectual disability 56 32 Occasional (29-5%) HP:0001249
3 muscular hypotonia 56 32 Frequent (79-30%) HP:0001252
4 hypertonia 56 32 Occasional (29-5%) HP:0001276
5 prominent forehead 56 32 Frequent (79-30%) HP:0011220
6 protruding ear 56 32 Occasional (29-5%) HP:0000411
7 telecanthus 56 32 Occasional (29-5%) HP:0000506
8 downturned corners of mouth 56 32 Occasional (29-5%) HP:0002714
9 round ear 56 32 Occasional (29-5%) HP:0100830
10 flat occiput 56 32 Very frequent (99-80%) HP:0005469
11 blepharophimosis 56 32 Occasional (29-5%) HP:0000581
12 facial asymmetry 56 32 Occasional (29-5%) HP:0000324
13 external ear malformation 56 32 Frequent (79-30%) HP:0008572
14 plagiocephaly 56 32 Very frequent (99-80%) HP:0001357
15 chin dimple 56 32 Occasional (29-5%) HP:0010751
16 stomatocytosis 56 32 Very frequent (99-80%) HP:0004446
17 macrocephaly 32 HP:0000256
18 malar flattening 32 HP:0000272
19 hypertelorism 32 HP:0000316
20 frontal bossing 32 HP:0002007
21 short nose 32 HP:0003196
22 retrognathia 32 HP:0000278
23 optic nerve hypoplasia 32 HP:0000609
24 midface retrusion 32 HP:0011800
25 lambdoidal craniosynostosis 32 HP:0004443
26 ectopic posterior pituitary 32 HP:0011755
27 pansynostosis 32 HP:0011325
28 posterior plagiocephaly 32 HP:0011327

Drugs & Therapeutics for Craniosynostosis 4

Drugs for Craniosynostosis 4 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 32)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Tranexamic Acid Approved Phase 4 1197-18-8 5526
2 Antifibrinolytic Agents Phase 4
3 Coagulants Phase 4
4 Hemostatics Phase 4
5
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
6
Cisplatin Approved Phase 3 15663-27-1 84093 441203 2767
7
Cyclophosphamide Approved, Investigational Phase 3 50-18-0, 6055-19-2 2907
8
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
9
Etoposide Approved Phase 3 33419-42-0 36462
10
Isotretinoin Approved Phase 3 4759-48-2 5538 5282379
11
Lenograstim Approved Phase 3 135968-09-1
12
Mechlorethamine Approved Phase 3 51-75-2 4033
13
Melphalan Approved Phase 3 148-82-3 4053 460612
14
Topotecan Approved, Investigational Phase 3 119413-54-6, 123948-87-8 60700
15
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
16
Tretinoin Approved, Investigational, Nutraceutical Phase 3 302-79-4 5538
17
Doxil Approved June 1999 Phase 3 31703
18 Adjuvants, Immunologic Phase 3
19 Alkylating Agents Phase 3
20 Anti-Bacterial Agents Phase 3
21 Antibiotics, Antitubercular Phase 3
22 Antimitotic Agents Phase 3
23 Antineoplastic Agents, Alkylating Phase 3
24 Antineoplastic Agents, Phytogenic Phase 3
25 Antirheumatic Agents Phase 3
26 Dermatologic Agents Phase 3
27 Etoposide phosphate Phase 3
28 Immunosuppressive Agents Phase 3
29 topoisomerase I inhibitors Phase 3
30 Topoisomerase Inhibitors Phase 3
31 phenylalanine Nutraceutical Phase 3
32 Calcium, Dietary

Interventional clinical trials:


id Name Status NCT ID Phase
1 The Efficacy and Population Pharmacokinetics of Tranexamic Acid for Craniosynostosis Surgery Recruiting NCT02188576 Phase 4
2 Tranexamic Acid for Craniofacial Surgery Terminated NCT00722436 Phase 4
3 Comparison of a Bone Product to Bone Dust in Ossification of Small Calvarial Defects. Withdrawn NCT01006148 Phase 4
4 Combination Chemotherapy and Peripheral Stem Cell Transplantation in Treating Patients With Neuroblastoma Completed NCT00004188 Phase 3
5 Effect of Tranexamic Acid Based on Pharmacokinetics in Pediatric Patients Undergoing Craniosynostosis Surgery: Randomized Controlled Trial Completed NCT02180321
6 Irradiated Blood Versus Non Irradiated Blood Transfusions in Craniosynostosis Repair Recruiting NCT02483702
7 Network Of Clinical Research Studies On Craniosynostosis, Skull Malformations With Premature Fusion Of Skull Bones Recruiting NCT03025763

Search NIH Clinical Center for Craniosynostosis 4

Genetic Tests for Craniosynostosis 4

Genetic tests related to Craniosynostosis 4:

id Genetic test Affiliating Genes
1 Craniosynostosis 4 29

Anatomical Context for Craniosynostosis 4

MalaCards organs/tissues related to Craniosynostosis 4:

39
Brain, Bone, Pituitary

Publications for Craniosynostosis 4

Variations for Craniosynostosis 4

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 4:

66
id Symbol AA change Variation ID SNP ID
1 ERF p.Arg65Gln VAR_070098 rs587777009
2 ERF p.Arg86Cys VAR_070099 rs587777008

ClinVar genetic disease variations for Craniosynostosis 4:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 ERF NM_006494.3(ERF): c.547C> T (p.Arg183Ter) single nucleotide variant Pathogenic rs587777006 GRCh37 Chromosome 19, 42753717: 42753717
2 ERF NM_006494.3(ERF): c.891_892delAG (p.Gly299Argfs) deletion Pathogenic rs587777007 GRCh37 Chromosome 19, 42753372: 42753373
3 ERF NM_006494.3(ERF): c.256C> T (p.Arg86Cys) single nucleotide variant Pathogenic rs587777008 GRCh37 Chromosome 19, 42754484: 42754484
4 ERF NM_006494.3(ERF): c.194G> A (p.Arg65Gln) single nucleotide variant Pathogenic rs587777009 GRCh37 Chromosome 19, 42754546: 42754546
5 ERF NM_006494.3(ERF): c.1270C> T (p.Gln424Ter) single nucleotide variant Pathogenic rs587777010 GRCh37 Chromosome 19, 42752994: 42752994
6 ERF NM_006494.3(ERF): c.23_257del235 single nucleotide variant Pathogenic rs864321680 GRCh37 Chromosome 19, 42754719: 42754719
7 ERF NM_006494.3(ERF): c.1A> G (p.Met1Val) single nucleotide variant Pathogenic rs864321681 GRCh37 Chromosome 19, 42759151: 42759151

Expression for Craniosynostosis 4

Search GEO for disease gene expression data for Craniosynostosis 4.

Pathways for Craniosynostosis 4

GO Terms for Craniosynostosis 4

Sources for Craniosynostosis 4

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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