MACID
MCID: MCR370
MIFTS: 18

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 57 74 6
Macrocephaly, Acquired, with Mental Retardation 57 74
Macid 57 74

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
macrocephaly, acquired, with impaired intellectual development:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 618286
MeSH 44 D008607

Summaries for Macrocephaly, Acquired, with Impaired Intellectual Development

UniProtKB/Swiss-Prot : 74 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

More information 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:

32 (show all 12)
# Description HPO Frequency HPO Source Accession
1 autism 32 very rare (1%) HP:0000717
2 anxiety 32 very rare (1%) HP:0000739
3 aggressive behavior 32 very rare (1%) HP:0000718
4 unilateral cryptorchidism 32 very rare (1%) HP:0012741
5 anteverted nares 32 HP:0000463
6 long philtrum 32 HP:0000343
7 narrow nasal bridge 32 HP:0000446
8 downslanted palpebral fissures 32 HP:0000494
9 long face 32 HP:0000276
10 high forehead 32 HP:0000348
11 blepharophimosis 32 HP:0000581
12 sparse eyebrow 32 HP:0045075

Symptoms via clinical synopsis from OMIM:

57
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 PMID Year
1
NFIB Haploinsufficiency Is Associated with Intellectual Disability and Macrocephaly. 8 71
30388402 2018

Variations for Macrocephaly, Acquired, with Impaired Intellectual Development

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

6
# Gene Variation Type Significance SNP ID GRCh37 Pos GRCh38 Pos
1 NFIB NM_001190737.2(NFIB): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs1554709792 9:14307441-14307441 9:14307442-14307442
2 NFIB NM_001190737.2(NFIB): c.341A> C (p.Lys114Thr) single nucleotide variant Pathogenic rs1554709683 9:14307209-14307209 9:14307210-14307210
3 NFIB NM_001190737.2(NFIB): c.376A> G (p.Lys126Glu) single nucleotide variant Pathogenic rs1554709662 9:14307174-14307174 9:14307175-14307175
4 NFIB NM_001190737.2(NFIB): c.395T> C (p.Leu132Pro) single nucleotide variant Pathogenic rs1554709654 9:14307155-14307155 9:14307156-14307156
5 NFIB NM_001190737.2(NFIB): c.758_759dup (p.Asn254Ter) duplication Pathogenic rs1554649366 9:14150191-14150192 9:14150192-14150193
6 NFIB NM_001190737.2(NFIB): c.1063_1076del (p.Ile355fs) deletion Pathogenic rs1554639173 9:14120608-14120621 9:14120609-14120622
7 NFIB NM_001190737.2(NFIB): c.265C> T (p.Arg89Ter) single nucleotide variant Conflicting interpretations of pathogenicity rs764333096 9:14307285-14307285 9:14307286-14307286

UniProtKB/Swiss-Prot genetic disease variations for Macrocephaly, Acquired, with Impaired Intellectual Development:

74
# Symbol AA change Variation ID SNP ID
1 NFIB p.Lys114Thr VAR_081861
2 NFIB p.Lys126Glu VAR_081862
3 NFIB p.Leu132Pro VAR_081863

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 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 TGDB
71 Tocris
72 UMLS
73 UMLS via Orphanet
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