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

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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

Inheritance:
autosomal recessive

Miscellaneous:
based on a report of two brothers

Classifications:

MalaCards categories:
Anatomical: Neuronal diseases Mental diseases

See all MalaCards categories (disease lists)

External Ids:

OMIM ⁵⁷ 248400

MedGen ⁴² C1855432

SNOMED-CT via HPO ⁶⁹ 275259005 246800008 228156007 more

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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). Affiliated tissues include bone, and related phenotypes are malar flattening and intellectual disability

Description from OMIM: 248400

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Related Diseases for Mandibulofacial Dysostosis with Mental Retardation

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Symptoms & Phenotypes for Mandibulofacial Dysostosis with Mental Retardation

Symptoms via clinical synopsis from OMIM:

⁵⁷

Head And Neck Mouth:
high palate
macrostomia

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

Head And Neck Face:
malar hypoplasia
mandibulofacial dysostosis

Skin Nails Hair Hair:
atypical hair growth

Head And Neck Eyes:
lower eyelid coloboma
downslanting palpebral fissures

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

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

Laboratory Abnormalities:
normal male karyotype

Clinical features from OMIM:

248400

Human phenotypes related to Mandibulofacial Dysostosis with Mental Retardation:

³² (show all 6)

#	Description	HPO Source Accession
1	malar flattening ³²	HP:0000272
2	intellectual disability ³²	HP:0001249
3	downslanted palpebral fissures ³²	HP:0000494
4	lower eyelid coloboma ³²	HP:0000652
5	abnormality of the outer ear ³²	HP:0000356
6	mandibulofacial dysostosis ³²	HP:0005321

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Drugs & Therapeutics for Mandibulofacial Dysostosis with Mental Retardation

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

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Genetic Tests for Mandibulofacial Dysostosis with Mental Retardation

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Anatomical Context for Mandibulofacial Dysostosis with Mental Retardation

MalaCards organs/tissues related to Mandibulofacial Dysostosis with Mental Retardation:

⁴¹

Bone

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Publications for Mandibulofacial Dysostosis with Mental Retardation

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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	PubmedIds
1	ABCA4	ATP Binding Cassette Subfamily A Member 4	Protein Coding	400	Pathogenic ⁶

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Variations for Mandibulofacial Dysostosis with Mental Retardation

ClinVar genetic disease variations for Mandibulofacial Dysostosis with Mental Retardation:

⁶

#	Gene	Variation	Type	Significance	SNP ID	Assembly	Location
1	ABCA4	NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)	single nucleotide variant	Pathogenic	rs61750130	GRCh37	Chromosome 1, 94496666: 94496666
2	ABCA4	NM_000350.2(ABCA4): c.4139C> T (p.Pro1380Leu)	single nucleotide variant	Pathogenic	rs61750130	GRCh38	Chromosome 1, 94031110: 94031110

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Expression for Mandibulofacial Dysostosis with Mental Retardation

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

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Pathways for Mandibulofacial Dysostosis with Mental Retardation

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GO Terms for Mandibulofacial Dysostosis with Mental Retardation

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Sources for Mandibulofacial Dysostosis with Mental Retardation

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