Scaphocephaly, Maxillary Retrusion, and Mental Retardation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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Aliases & Classifications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

MalaCards integrated aliases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

Name: Scaphocephaly, Maxillary Retrusion, and Mental Retardation ⁵⁷ ²⁹ ¹³ ⁶ ⁴⁰

Scaphocephaly-Macrocephaly-Maxillary Retrusion-Intellectual Disability Syndrome ⁵⁹

Scaphocephaly with Maxillary Retrusion and Mental Retardation ⁷⁵

Familial Scaphocephaly Syndrome, Mcgillivray Type ⁵⁹

Familial Scaphocephaly Syndrome ⁷⁵

Fspc ⁷⁵

Characteristics:

Orphanet epidemiological data:

⁵⁹

familial scaphocephaly syndrome, mcgillivray type
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Other congenital malformations

Other specified congenital malformation syndromes affecting multiple systems

Congenital malformation syndromes predominantly affecting facial appearance

Orphanet: ⁵⁹

Rare bone diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 609579

Orphanet ⁵⁹ ORPHA168624

ICD10 via Orphanet ³⁴ Q87.0

UMLS via Orphanet ⁷⁴ C1865070

MedGen ⁴² C1865070

MeSH ⁴⁴ D003398

SNOMED-CT via HPO ⁶⁹ 27272007 28740008 72239002 more

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Summaries for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

UniProtKB/Swiss-Prot : ⁷⁵ Familial scaphocephaly syndrome: An autosomal dominant craniosynostosis syndrome characterized by scaphocephaly, macrocephaly, hypertelorism, maxillary retrusion, and mild intellectual disability. Scaphocephaly is the most common of the craniosynostosis conditions and is characterized by a long, narrow head. It is due to premature fusion of the sagittal suture or from external deformation.

MalaCards based summary : Scaphocephaly, Maxillary Retrusion, and Mental Retardation, is also known as scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome. An important gene associated with Scaphocephaly, Maxillary Retrusion, and Mental Retardation is FGFR2 (Fibroblast Growth Factor Receptor 2). Affiliated tissues include bone, and related phenotypes are high palate and trigonocephaly

Description from OMIM: 609579

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Related Diseases for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Symptoms & Phenotypes for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Clinical features from OMIM:

609579

Human phenotypes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

⁵⁹ ³² (show all 15)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	high palate ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000218
2	trigonocephaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000243
3	macrocephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000256
4	dolichocephaly ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0000268
5	mandibular prognathia ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000303
6	hypertelorism ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000316
7	high forehead ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000348
8	upslanted palpebral fissure ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000582
9	intellectual disability, mild ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001256
10	toe syndactyly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0001770
11	ventriculomegaly ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0002119
12	broad hallux phalanx ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0010059
13	open bite ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0010807
14	midface retrusion ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0011800
15	intellectual disability ³²			HP:0001249

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Drugs & Therapeutics for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Search Clinical Trials , NIH Clinical Center for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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Genetic Tests for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genetic tests related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

#	Genetic test	Affiliating Genes
1	Scaphocephaly, Maxillary Retrusion, and Mental Retardation ²⁹	FGFR2

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Anatomical Context for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

MalaCards organs/tissues related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

⁴¹

Bone

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Publications for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Articles related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

#	Title	Authors	Year
1	Familial scaphocephaly syndrome caused by a novel mutation in the FGFR2 tyrosine kinase domain. ( 16061565 )	McGillivray G....Lamande S.R.	2005

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Genes for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Genes related to Scaphocephaly, Maxillary Retrusion, and Mental Retardation (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubmedIds
1	FGFR2	Fibroblast Growth Factor Receptor 2	Protein Coding	1668.3	Molecular basis known ⁵⁷ Pathogenic ⁶ Causative germline mutation ⁵⁹ Causative variation ⁷⁵ Genetic Tests ²⁹ GeneCards inferred via : Variants (show sections)	15523492 16061565

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Variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

UniProtKB/Swiss-Prot genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

⁷⁵

#	Symbol	AA change	Variation ID	SNP ID
1	FGFR2	p.Lys526Glu	VAR_023788	rs121918507

ClinVar genetic disease variations for Scaphocephaly, Maxillary Retrusion, and Mental Retardation:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	FGFR2	NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu)	single nucleotide variant	Pathogenic	rs121918507	GRCh37	Chromosome 10, 123258105: 123258105
2	FGFR2	NM_000141.4(FGFR2): c.1576A> G (p.Lys526Glu)	single nucleotide variant	Pathogenic	rs121918507	GRCh38	Chromosome 10, 121498591: 121498591

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Expression for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

Search GEO for disease gene expression data for Scaphocephaly, Maxillary Retrusion, and Mental Retardation.

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Pathways for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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GO Terms for Scaphocephaly, Maxillary Retrusion, and Mental Retardation

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