Parietal Foramina with Cleidocranial Dysplasia disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

MalaCards integrated aliases for Parietal Foramina with Cleidocranial Dysplasia:

Name: Parietal Foramina with Cleidocranial Dysplasia ⁵⁸ ⁶⁰ ⁷⁶ ³⁰ ¹³ ⁶ ⁷⁴

Cleidocranial Dysplasia with Parietal Foramina ⁵⁸ ⁷⁶

Pfmccd ⁵⁸ ⁷⁶

Foramina, Parietal, with Cleidocranial Dysplasia ⁴¹

Parietal Foramina with Clavicular Hypoplasia ⁶⁰

Characteristics:

Orphanet epidemiological data:

⁶⁰

parietal foramina with clavicular hypoplasia
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

⁵⁸

Inheritance:
autosomal dominant

HPO:

³³

parietal foramina with cleidocranial dysplasia:
Inheritance autosomal dominant inheritance

Classifications:

MalaCards categories:
Global: Genetic diseases Fetal diseases Rare diseases
Anatomical: Bone diseases

See all MalaCards categories (disease lists)

ICD10: ³⁵

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

Other congenital malformations of limb(s)

Other congenital malformations of upper limb(s), including shoulder girdle

Orphanet: ⁶⁰

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁸ 168550

ICD10 via Orphanet ³⁵ Q74.0

UMLS via Orphanet ⁷⁵ C1868597

Orphanet ⁶⁰ ORPHA251290

MedGen ⁴³ C1868597

SNOMED-CT via HPO ⁷⁰ 11240000 263681008 29307005 more

UMLS ⁷⁴ C1868597

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Summaries for Parietal Foramina with Cleidocranial Dysplasia

UniProtKB/Swiss-Prot : ⁷⁶ Parietal foramina with cleidocranial dysplasia: Combines skull defects in the form of enlarged parietal foramina and deficient ossification of the clavicles.

MalaCards based summary : Parietal Foramina with Cleidocranial Dysplasia, also known as cleidocranial dysplasia with parietal foramina, is related to parietal foramina and cleidocranial dysplasia. An important gene associated with Parietal Foramina with Cleidocranial Dysplasia is MSX2 (Msh Homeobox 2). Affiliated tissues include bone, and related phenotypes are macrocephaly and microtia

Description from OMIM: 168550

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Related Diseases for Parietal Foramina with Cleidocranial Dysplasia

Diseases related to Parietal Foramina with Cleidocranial Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

#	Related Disease	Score	Top Affiliating Genes
1	parietal foramina	30.0	RUNX2 MSX2
2	cleidocranial dysplasia	30.0	RUNX2 MSX2
3	bone development disease	9.6	RUNX2 MSX2
4	saethre-chotzen syndrome	9.5	RUNX2 MSX2

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Symptoms & Phenotypes for Parietal Foramina with Cleidocranial Dysplasia

Human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

³³ (show all 7)

#	Description	HPO Source Accession
1	macrocephaly ³³	HP:0000256
2	microtia ³³	HP:0008551
3	short clavicles ³³	HP:0000894
4	widely patent fontanelles and sutures ³³	HP:0004492
5	dermoid cyst ³³	HP:0025247
6	parietal foramina ³³	HP:0002697
7	symmetrical, oval parietal bone defects ³³	HP:0002695

Symptoms via clinical synopsis from OMIM:

⁵⁸

Skel:
clavicular hypoplasia

Radiology:
symmetrical, oval defects in the parietal bone

Head:
persistent wide fontanel

Clinical features from OMIM:

168550

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Drugs & Therapeutics for Parietal Foramina with Cleidocranial Dysplasia

Search Clinical Trials , NIH Clinical Center for Parietal Foramina with Cleidocranial Dysplasia

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Genetic Tests for Parietal Foramina with Cleidocranial Dysplasia

Genetic tests related to Parietal Foramina with Cleidocranial Dysplasia:

#	Genetic test	Affiliating Genes
1	Parietal Foramina with Cleidocranial Dysplasia ³⁰	MSX2

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Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

MalaCards organs/tissues related to Parietal Foramina with Cleidocranial Dysplasia:

⁴²

Bone

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Publications for Parietal Foramina with Cleidocranial Dysplasia

Articles related to Parietal Foramina with Cleidocranial Dysplasia:

#	Title	Authors	Year
1	Parietal foramina with cleidocranial dysplasia is caused by mutation in MSX2. ( 14571277 )	Garcia-Minaur S....Wilkie A.O.M.	2003

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Genes for Parietal Foramina with Cleidocranial Dysplasia

Genes related to Parietal Foramina with Cleidocranial Dysplasia (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	MSX2	Msh Homeobox 2	Protein Coding	1377.86	Molecular basis known ⁵⁸ Pathogenic ⁶ Causative germline mutation (loss of function) ⁶⁰ Genetic Tests ³⁰ GeneCards inferred via : Disorders Publications (show sections)	14571277 20301307
2	RUNX2	Runt Related Transcription Factor 2	Protein Coding	17.73	GeneCards inferred via : Publications (show sections)

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Variations for Parietal Foramina with Cleidocranial Dysplasia

ClinVar genetic disease variations for Parietal Foramina with Cleidocranial Dysplasia:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	MSX2	NM_002449.5(MSX2): c.505_508dup (p.Ala170Aspfs)	duplication	Pathogenic		GRCh38	Chromosome 5, 174729284: 174729287
2	MSX2	NM_002449.5(MSX2): c.505_508dup (p.Ala170Aspfs)	duplication	Pathogenic		GRCh37	Chromosome 5, 174156287: 174156290

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Expression for Parietal Foramina with Cleidocranial Dysplasia

Search GEO for disease gene expression data for Parietal Foramina with Cleidocranial Dysplasia.

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Pathways for Parietal Foramina with Cleidocranial Dysplasia

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GO Terms for Parietal Foramina with Cleidocranial Dysplasia

Biological processes related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	negative regulation of transcription, DNA-templated	GO:0045892	9.46	MSX2 RUNX2
2	osteoblast differentiation	GO:0001649	9.43	MSX2 RUNX2
3	ossification	GO:0001503	9.4	MSX2 RUNX2
4	BMP signaling pathway	GO:0030509	9.37	MSX2 RUNX2
5	positive regulation of osteoblast differentiation	GO:0045669	9.32	MSX2 RUNX2
6	embryonic forelimb morphogenesis	GO:0035115	9.26	MSX2 RUNX2
7	stem cell differentiation	GO:0048863	9.16	MSX2 RUNX2
8	osteoblast development	GO:0002076	8.96	MSX2 RUNX2
9	chondrocyte development	GO:0002063	8.62	MSX2 RUNX2

Molecular functions related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

#	Name	GO ID	Score	Top Affiliating Genes
1	transcription regulatory region DNA binding	GO:0044212	8.62	MSX2 RUNX2

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Sources for Parietal Foramina with Cleidocranial Dysplasia

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⁴¹ LOVD

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⁴⁹ NCBI Bookshelf

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⁵³ NIH Clinical Center

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⁵⁵ NINDS

⁵⁶ Novoseek

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⁵⁸ OMIM

⁵⁹ OMIM via Orphanet

⁶⁰ Orphanet

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⁶⁹ SNOMED-CT

⁷⁰ SNOMED-CT via HPO

⁷¹ SNOMED-CT via Orphanet

⁷² TGDB

⁷³ Tocris

⁷⁴ UMLS

⁷⁵ UMLS via Orphanet

⁷⁶ UniProtKB/Swiss-Prot

⁷⁷ Wikipedia

Parietal Foramina with Cleidocranial Dysplasia (PFMCCD)

Aliases & Classifications for Parietal Foramina with Cleidocranial Dysplasia

MalaCards integrated aliases for Parietal Foramina with Cleidocranial Dysplasia:

Characteristics:

Orphanet epidemiological data:

OMIM:

HPO:

Classifications:

External Ids:

Summaries for Parietal Foramina with Cleidocranial Dysplasia

Related Diseases for Parietal Foramina with Cleidocranial Dysplasia

Diseases related to Parietal Foramina with Cleidocranial Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

Symptoms & Phenotypes for Parietal Foramina with Cleidocranial Dysplasia

Human phenotypes related to Parietal Foramina with Cleidocranial Dysplasia:

Symptoms via clinical synopsis from OMIM:

Clinical features from OMIM:

Drugs & Therapeutics for Parietal Foramina with Cleidocranial Dysplasia

Genetic Tests for Parietal Foramina with Cleidocranial Dysplasia

Genetic tests related to Parietal Foramina with Cleidocranial Dysplasia:

Anatomical Context for Parietal Foramina with Cleidocranial Dysplasia

MalaCards organs/tissues related to Parietal Foramina with Cleidocranial Dysplasia:

Publications for Parietal Foramina with Cleidocranial Dysplasia

Articles related to Parietal Foramina with Cleidocranial Dysplasia:

Genes for Parietal Foramina with Cleidocranial Dysplasia

Genes related to Parietal Foramina with Cleidocranial Dysplasia (1 elite genes):

Variations for Parietal Foramina with Cleidocranial Dysplasia

ClinVar genetic disease variations for Parietal Foramina with Cleidocranial Dysplasia:

Expression for Parietal Foramina with Cleidocranial Dysplasia

Pathways for Parietal Foramina with Cleidocranial Dysplasia

GO Terms for Parietal Foramina with Cleidocranial Dysplasia

Biological processes related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

Molecular functions related to Parietal Foramina with Cleidocranial Dysplasia according to GeneCards Suite gene sharing:

Sources for Parietal Foramina with Cleidocranial Dysplasia