MCID: MND028
MIFTS: 12

Mandibulofacial Dysostosis with Mental Retardation

Categories: Neuronal diseases, Mental diseases

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:



External Ids:

OMIM 57 248400
MedGen 42 C1855432

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

Related Diseases for Mandibulofacial Dysostosis with Mental Retardation

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 Frequency 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

Drugs & Therapeutics for Mandibulofacial Dysostosis with Mental Retardation

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

Genetic Tests for Mandibulofacial Dysostosis with Mental Retardation

Anatomical Context for Mandibulofacial Dysostosis with Mental Retardation

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

41
Bone

Publications for Mandibulofacial Dysostosis with Mental Retardation

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

Expression for Mandibulofacial Dysostosis with Mental Retardation

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

Pathways for Mandibulofacial Dysostosis with Mental Retardation

GO Terms for Mandibulofacial Dysostosis with Mental Retardation

Sources for Mandibulofacial Dysostosis with Mental Retardation

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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