MACID
MCID: MCR370
MIFTS: 15

Macrocephaly, Acquired, with Impaired Intellectual Development (MACID)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Macrocephaly, Acquired, with Impaired Intellectual Development

MalaCards integrated aliases for Macrocephaly, Acquired, with Impaired Intellectual Development:

Name: Macrocephaly, Acquired, with Impaired Intellectual Development 58 76 6
Macrocephaly, Acquired, with Mental Retardation 58 76
Macid 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant


Classifications:



Summaries for Macrocephaly, Acquired, with Impaired Intellectual Development

UniProtKB/Swiss-Prot : 76 Macrocephaly, acquired, with impaired intellectual development: An autosomal dominant disorder characterized by postnatal macrocephaly and borderline to mild mental retardation. Additional variable neurodevelopmental features include muscular hypotonia, motor and speech delay, attention deficit disorder, autism spectrum disorder, and behavioral abnormalities. Some patients present corpus callosum dysgenesis.

MalaCards based summary : Macrocephaly, Acquired, with Impaired Intellectual Development, is also known as macrocephaly, acquired, with mental retardation. An important gene associated with Macrocephaly, Acquired, with Impaired Intellectual Development is NFIB (Nuclear Factor I B). Related phenotypes are autism and anxiety

Description from OMIM: 618286

Related Diseases for Macrocephaly, Acquired, with Impaired Intellectual Development

Symptoms & Phenotypes for Macrocephaly, Acquired, with Impaired Intellectual Development

Human phenotypes related to Macrocephaly, Acquired, with Impaired Intellectual Development:

33 (show all 11)
# Description HPO Frequency HPO Source Accession
1 autism 33 very rare (1%) HP:0000717
2 anxiety 33 very rare (1%) HP:0000739
3 aggressive behavior 33 very rare (1%) HP:0000718
4 anteverted nares 33 HP:0000463
5 long philtrum 33 HP:0000343
6 downslanted palpebral fissures 33 HP:0000494
7 long face 33 HP:0000276
8 high forehead 33 HP:0000348
9 blepharophimosis 33 HP:0000581
10 narrow nasal bridge 33 HP:0000446
11 sparse eyebrow 33 HP:0045075

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Nose:
anteverted nares
narrow nasal bridge

Head And Neck Eyes:
blepharophimosis
downslanting palpebral fissures
sparse eyebrows

Head And Neck Head:
macrocephaly, postnatal onset

Genitourinary Internal Genitalia Male:
cryptorchidism, unilateral (in one patient)

Head And Neck Face:
long philtrum
long face
high forehead

Neurologic Behavioral Psychiatric Manifestations:
anxiety (in some patients)
autism (in some patients)
aggressive behavior (in some patients)

Neurologic Central Nervous System:
corpus callosum abnormalities (in some patients)
intellectual disability, borderline to mild

Clinical features from OMIM:

618286

Drugs & Therapeutics for Macrocephaly, Acquired, with Impaired Intellectual Development

Search Clinical Trials , NIH Clinical Center for Macrocephaly, Acquired, with Impaired Intellectual Development

Genetic Tests for Macrocephaly, Acquired, with Impaired Intellectual Development

Anatomical Context for Macrocephaly, Acquired, with Impaired Intellectual Development

Publications for Macrocephaly, Acquired, with Impaired Intellectual Development

Articles related to Macrocephaly, Acquired, with Impaired Intellectual Development:

# Title Authors Year
1
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. ( 30388402 )
2018

Variations for Macrocephaly, Acquired, with Impaired Intellectual Development

ClinVar genetic disease variations for Macrocephaly, Acquired, with Impaired Intellectual Development:

6 (show all 14)
# Gene Variation Type Significance SNP ID Assembly Location
1 NFIB NM_001190737.2(NFIB): c.265C> T (p.Arg89Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs764333096 GRCh38 Chromosome 9, 14307286: 14307286
2 NFIB NM_001190737.2(NFIB): c.265C> T (p.Arg89Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs764333096 GRCh37 Chromosome 9, 14307285: 14307285
3 NFIB NM_001190737.1(NFIB): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs1554709792 GRCh37 Chromosome 9, 14307441: 14307441
4 NFIB NM_001190737.1(NFIB): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs1554709792 GRCh38 Chromosome 9, 14307442: 14307442
5 NFIB NM_001190737.2(NFIB): c.341A> C (p.Lys114Thr) single nucleotide variant Pathogenic rs1554709683 GRCh37 Chromosome 9, 14307209: 14307209
6 NFIB NM_001190737.2(NFIB): c.341A> C (p.Lys114Thr) single nucleotide variant Pathogenic rs1554709683 GRCh38 Chromosome 9, 14307210: 14307210
7 NFIB NM_001190737.2(NFIB): c.376A> G (p.Lys126Glu) single nucleotide variant Pathogenic rs1554709662 GRCh37 Chromosome 9, 14307174: 14307174
8 NFIB NM_001190737.2(NFIB): c.376A> G (p.Lys126Glu) single nucleotide variant Pathogenic rs1554709662 GRCh38 Chromosome 9, 14307175: 14307175
9 NFIB NM_001190737.2(NFIB): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs1554709654 GRCh37 Chromosome 9, 14307155: 14307155
10 NFIB NM_001190737.2(NFIB): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs1554709654 GRCh38 Chromosome 9, 14307156: 14307156
11 NFIB NM_001190737.2(NFIB): c.758_759dup (p.Asn254Terfs) duplication Pathogenic rs1554649366 GRCh37 Chromosome 9, 14150191: 14150192
12 NFIB NM_001190737.2(NFIB): c.758_759dup (p.Asn254Terfs) duplication Pathogenic rs1554649366 GRCh38 Chromosome 9, 14150192: 14150193
13 NFIB NM_001190737.1(NFIB): c.1063_1076del (p.Ile355Serfs) deletion Pathogenic rs1554639173 GRCh37 Chromosome 9, 14120608: 14120621
14 NFIB NM_001190737.1(NFIB): c.1063_1076del (p.Ile355Serfs) deletion Pathogenic rs1554639173 GRCh38 Chromosome 9, 14120609: 14120622

Expression for Macrocephaly, Acquired, with Impaired Intellectual Development

Search GEO for disease gene expression data for Macrocephaly, Acquired, with Impaired Intellectual Development.

Pathways for Macrocephaly, Acquired, with Impaired Intellectual Development

GO Terms for Macrocephaly, Acquired, with Impaired Intellectual Development

Sources for Macrocephaly, Acquired, with Impaired Intellectual Development

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10 dbSNP
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17 EFO
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63 PubMed
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70 SNOMED-CT via HPO
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75 UMLS via Orphanet
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