CRS3
MCID: CRN217
MIFTS: 26

Craniosynostosis 3 (CRS3)

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

Aliases & Classifications for Craniosynostosis 3

MalaCards integrated aliases for Craniosynostosis 3:

Name: Craniosynostosis 3 56 73 29 6 71
Crs3 56 73
Craniosynostosis, Type 3 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
craniosynostosis 3:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 56 615314
OMIM Phenotypic Series 56 PS123100
MeSH 43 D003398
UMLS 71 C3715051

Summaries for Craniosynostosis 3

OMIM : 56 Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-3 includes coronal, sagittal, and multisuture forms (Sharma et al., 2013). For discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100). (615314)

MalaCards based summary : Craniosynostosis 3, is also known as crs3. An important gene associated with Craniosynostosis 3 is TCF12 (Transcription Factor 12). Affiliated tissues include brain and liver, and related phenotypes are ptosis and global developmental delay

UniProtKB/Swiss-Prot : 73 Craniosynostosis 3: 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 3

Symptoms & Phenotypes for Craniosynostosis 3

Human phenotypes related to Craniosynostosis 3:

31 (show all 9)
# Description HPO Frequency HPO Source Accession
1 ptosis 31 occasional (7.5%) HP:0000508
2 global developmental delay 31 occasional (7.5%) HP:0001263
3 brachydactyly 31 occasional (7.5%) HP:0001156
4 hallux valgus 31 occasional (7.5%) HP:0001822
5 strabismus 31 occasional (7.5%) HP:0000486
6 autism 31 occasional (7.5%) HP:0000717
7 low anterior hairline 31 occasional (7.5%) HP:0000294
8 single transverse palmar crease 31 occasional (7.5%) HP:0000954
9 craniosynostosis 31 HP:0001363

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
strabismus (in some patients)
blepharoptosis (in some patients)

Neurologic Central Nervous System:
developmental delay (in some patients)
learning disability (in some patients)
autism (rare)
asperger syndrome (rare)
prominent ventricles (in some patients)
more
Skin Nails Hair Hair:
low anterior hairline (in some patients)

Skeletal Feet:
hallux valgus (in some patients)
syndactyly between adjacent toes (in some patients)

Head And Neck Teeth:
malocclusion, class i/ii (in some patients)

Skeletal Hands:
brachydactyly (in some patients)
transverse palmar crease (in some patients)

Head And Neck Head:
low anterior hairline (in some patients)

Skeletal Skull:
sagittal synostosis
coronal synostosis, unilateral or bilateral

Head And Neck Ears:
minor ear anomalies (in some patients)

Clinical features from OMIM:

615314

Drugs & Therapeutics for Craniosynostosis 3

Search Clinical Trials , NIH Clinical Center for Craniosynostosis 3

Genetic Tests for Craniosynostosis 3

Genetic tests related to Craniosynostosis 3:

# Genetic test Affiliating Genes
1 Craniosynostosis 3 29 TCF12

Anatomical Context for Craniosynostosis 3

MalaCards organs/tissues related to Craniosynostosis 3:

40
Brain, Liver

Publications for Craniosynostosis 3

Articles related to Craniosynostosis 3:

(show all 15)
# Title Authors PMID Year
1
Mutations in TCF12, encoding a basic helix-loop-helix partner of TWIST1, are a frequent cause of coronal craniosynostosis. 6 56
23354436 2013
2
Filling in the gaps in cranial suture biology. 56
23438589 2013
3
Role of the pathologist in assessing response to treatment of ovarian and endometrial cancers. 61
31846531 2020
4
External validation of a 'response score' after neoadjuvant chemotherapy in patients with high-grade serous ovarian carcinoma with complete clinical response. 61
31754067 2019
5
Pathological chemotherapy response score is prognostic in tubo-ovarian high-grade serous carcinoma: A systematic review and meta-analysis of individual patient data. 61
31118141 2019
6
Histopathologic response to neoadjuvant chemotherapy as a prognostic biomarker in tubo-ovarian high-grade serous carcinoma: updated Chemotherapy Response Score (CRS) results. 61
30683759 2019
7
Pathological response of ovarian cancer to neoadjuvant chemotherapy. 61
30509080 2018
8
Evidence-Based Medicine: Nonsyndromic Craniosynostosis. 61
28654618 2017
9
What's New in Syndromic Craniosynostosis Surgery? 61
28654610 2017
10
Endoscopic surgery for patients with syndromic craniosynostosis and the requirement for additional open surgery. 61
28474983 2017
11
Three-Dimensional Analysis and Surgical Planning in Craniomaxillofacial Surgery. 61
26608154 2015
12
The changing epidemiologic spectrum of single-suture synostoses. 61
18626371 2008
13
MOC-PS(SM) CME article: management considerations in the treatment of craniosynostosis. 61
18379381 2008
14
[Microwave coagulation therapy for liver metastases from colorectal cancer]. 61
15170975 2004
15
Aspects related to mevalonate biosynthesis in plants. 61
1685759 1991

Variations for Craniosynostosis 3

ClinVar genetic disease variations for Craniosynostosis 3:

6 (show all 16) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 TCF12 NM_207037.2(TCF12):c.842C>G (p.Ser281Ter)SNV Pathogenic 55911 rs886037636 15:57524926-57524926 15:57232728-57232728
2 TCF12 NM_207037.2(TCF12):c.1491dup (p.Val498fs)duplication Pathogenic 55912 rs886037637 15:57554315-57554315 15:57262117-57262117
3 TCF12 NM_207037.2(TCF12):c.722C>G (p.Ser241Ter)SNV Pathogenic 55913 rs398122381 15:57524525-57524525 15:57232327-57232327
4 TCF12 NM_207037.2(TCF12):c.1646del (p.Lys549fs)deletion Pathogenic 55914 rs886037638 15:57555373-57555373 15:57263175-57263175
5 TCF12 NM_207037.2(TCF12):c.1963G>T (p.Glu655Ter)SNV Pathogenic 55915 rs886037639 15:57565445-57565445 15:57273247-57273247
6 TCF12 NM_207037.2(TCF12):c.1035+3G>CSNV Pathogenic 55916 rs886037640 15:57526308-57526308 15:57234110-57234110
7 TCF12 NM_207037.2(TCF12):c.1912C>G (p.Gln638Glu)SNV Pathogenic 55917 rs886037641 15:57565394-57565394 15:57273196-57273196
8 TCF12 NM_207037.2(TCF12):c.998_999CA[1] (p.Gln334fs)short repeat Pathogenic 127269 rs730880017 15:57526270-57526271 15:57234072-57234073
9 TCF12 NM_207037.2(TCF12):c.1071del (p.Ser358fs)deletion Pathogenic 127270 rs730880015 15:57535705-57535705 15:57243507-57243507
10 TCF12 NM_207037.2(TCF12):c.1366dup (p.Ile456fs)duplication Pathogenic 127271 rs730880326 15:57545565-57545565 15:57253367-57253367
11 TCF12 NM_207037.2(TCF12):c.1838G>A (p.Arg613His)SNV Pathogenic 127272 rs730880016 15:57565320-57565320 15:57273122-57273122
12 TCF12 NM_207037.2(TCF12):c.1876C>T (p.Arg626Ter)SNV Pathogenic 374377 rs758543580 15:57565358-57565358 15:57273160-57273160
13 TCF12 NM_207037.2(TCF12):c.1642_1645del (p.Glu548fs)deletion Pathogenic 436958 rs1555412971 15:57555369-57555372 15:57263171-57263174
14 TCF12 NM_207037.2(TCF12):c.786dup (p.Ser263fs)duplication Pathogenic 692240
15 TCF12 NM_207037.2(TCF12):c.1128G>A (p.Trp376Ter)SNV Likely pathogenic 489259 rs1555409014 15:57543561-57543561 15:57251363-57251363
16 TCF12 NM_207037.2(TCF12):c.1720A>C (p.Lys574Gln)SNV Uncertain significance 374376 rs1057518720 15:57555447-57555447 15:57263249-57263249

UniProtKB/Swiss-Prot genetic disease variations for Craniosynostosis 3:

73
# Symbol AA change Variation ID SNP ID
1 TCF12 p.Leu600Pro VAR_070096
2 TCF12 p.Gln614Glu VAR_070097 rs886037641
3 TCF12 p.Leu483Arg VAR_072271 rs36060670

Expression for Craniosynostosis 3

Search GEO for disease gene expression data for Craniosynostosis 3.

Pathways for Craniosynostosis 3

GO Terms for Craniosynostosis 3

Sources for Craniosynostosis 3

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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