Mandibulofacial Dysostosis with Mental Retardation disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

Sources

Aliases & Classifications for Mandibulofacial Dysostosis with Mental Retardation

MalaCards integrated aliases for Mandibulofacial Dysostosis with Mental Retardation:

Name: Mandibulofacial Dysostosis with Mental Retardation ⁵⁷

Characteristics:

OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Inheritance:
autosomal recessive

Miscellaneous:
based on a report of two brothers

HPO:

³¹

mandibulofacial dysostosis with mental retardation:
Inheritance autosomal recessive inheritance

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM® ⁵⁷ 248400

MedGen ⁴¹ C4692584

SNOMED-CT via HPO ⁶⁸ 228156007 246800008 247578003 more

Sources

Summaries for Mandibulofacial Dysostosis with Mental Retardation

MalaCards based summary : Mandibulofacial Dysostosis with Mental Retardation An important gene associated with Mandibulofacial Dysostosis with Mental Retardation is ABCA4 (ATP Binding Cassette Subfamily A Member 4). Related phenotypes are intellectual disability and eeg abnormality

More information from OMIM: 248400

Sources

Related Diseases for Mandibulofacial Dysostosis with Mental Retardation

Sources

Symptoms & Phenotypes for Mandibulofacial Dysostosis with Mental Retardation

Human phenotypes related to Mandibulofacial Dysostosis with Mental Retardation:

³¹ (show all 10)

#	Description	HPO Source Accession
1	intellectual disability ³¹	HP:0001249
2	eeg abnormality ³¹	HP:0002353
3	high palate ³¹	HP:0000218
4	micrognathia ³¹	HP:0000347
5	wide mouth ³¹	HP:0000154
6	downslanted palpebral fissures ³¹	HP:0000494
7	malar flattening ³¹	HP:0000272
8	lower eyelid coloboma ³¹	HP:0000652
9	abnormality of the pinna ³¹	HP:0000377
10	mandibulofacial dysostosis ³¹	HP:0005321

Symptoms via clinical synopsis from OMIM®:

⁵⁷ (Updated 05-Apr-2021)

Head And Neck Mouth:
high palate
macrostomia

Head And Neck Face:
mandibulofacial dysostosis
malar hypoplasia

Head And Neck Ears:
simple ears
abnormal ear drum
hearing loss, unilateral

Skin Nails Hair Hair:
atypical hair growth

Head And Neck Eyes:
lower eyelid coloboma
downslanting palpebral fissures

Skeletal Skull:
small mandible
poorly developed maxillae
small malar bones
incomplete zygomatic arches

Neurologic Central Nervous System:
abnormal eeg
mental retardation (iq 33)

Laboratory Abnormalities:
normal male karyotype

Clinical features from OMIM®:

248400 (Updated 05-Apr-2021)

Sources

Drugs & Therapeutics for Mandibulofacial Dysostosis with Mental Retardation

Search Clinical Trials , NIH Clinical Center for Mandibulofacial Dysostosis with Mental Retardation

Sources

Genetic Tests for Mandibulofacial Dysostosis with Mental Retardation

Sources

Anatomical Context for Mandibulofacial Dysostosis with Mental Retardation

Sources

Publications for Mandibulofacial Dysostosis with Mental Retardation

Articles related to Mandibulofacial Dysostosis with Mental Retardation:

#	Title	Authors	PMID	Year
1	Mandibulo-facial dysostosis (Berry-Franceschetti syndrome). ⁵⁷	JANCAR J	13789362	1961

Sources

Genes for Mandibulofacial Dysostosis with Mental Retardation

Genes related to Mandibulofacial Dysostosis with Mental Retardation (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	400	Pathogenic ⁶

Sources

Variations for Mandibulofacial Dysostosis with Mental Retardation

ClinVar genetic disease variations for Mandibulofacial Dysostosis with Mental Retardation:

⁶

#	Gene	Name	Type	Significance	ClinVarId	dbSNP ID	Position
1	ABCA4	NM_000350.3(ABCA4):c.4139C>T (p.Pro1380Leu)	SNV	Pathogenic	7904	rs61750130	GRCh37: 1:94496666-94496666 GRCh38: 1:94031110-94031110

Sources

Expression for Mandibulofacial Dysostosis with Mental Retardation

Search GEO for disease gene expression data for Mandibulofacial Dysostosis with Mental Retardation.

Sources

Pathways for Mandibulofacial Dysostosis with Mental Retardation

Sources

GO Terms for Mandibulofacial Dysostosis with Mental Retardation

Sources

Sources for Mandibulofacial Dysostosis with Mental Retardation

¹ BioSystems

² BitterDB

³ CDC

⁴ Cell Signaling Technology

⁵ ClinicalTrials

⁶ ClinVar

⁷ CNVD

⁸ Cochrane Library

⁹ Cosmic

¹⁰ dbSNP

¹¹ DGIdb

¹² Disease Ontology

¹³ diseasecard

¹⁴ DiseaseEnhancer

¹⁵ DISEASES

¹⁶ DrugBank

¹⁷ EFO

¹⁸ ExPASy

¹⁹ FMA

²⁰ GARD

²¹ GeneAnalytics

²² GeneCards

²³ GeneGo (Thomson Reuters)

²⁴ GeneHancer via GeneCards

²⁵ GeneReviews

²⁶ GenomeRNAi

²⁷ GEO DataSets

²⁸ GO

²⁹ GTR

³⁰ HMDB

³¹ HPO

³² ICD10

³³ ICD10 via Orphanet

³⁴ ICD9CM

³⁵ IUPHAR

³⁶ KEGG

³⁷ LifeMap

³⁸ LncRNADisease

³⁹ LOVD

⁴⁰ MalaCards

⁴¹ MedGen

⁴² MedlinePlus

⁴³ MedlinePlus Genetics

⁴⁴ MeSH

⁴⁵ MESH via Orphanet

⁴⁶ MGI

⁴⁷ miR2Disease

⁴⁸ NCBI Bookshelf

⁴⁹ NCI

⁵⁰ NCIt

⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 05-Apr-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

⁶⁴ R&D Systems

⁶⁵ Reactome

⁶⁶ Sino Biological

⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia