MACID
MCID: MCR370
MIFTS: 19

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 56 73 29 6
Macrocephaly, Acquired, with Mental Retardation 56 73
Macid 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
macrocephaly, acquired, with impaired intellectual development:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Macrocephaly, Acquired, with Impaired Intellectual Development

UniProtKB/Swiss-Prot : 73 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:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 autism 31 very rare (1%) HP:0000717
2 anxiety 31 very rare (1%) HP:0000739
3 aggressive behavior 31 very rare (1%) HP:0000718
4 unilateral cryptorchidism 31 very rare (1%) HP:0012741
5 macrocephaly 31 HP:0000256
6 anteverted nares 31 HP:0000463
7 downslanted palpebral fissures 31 HP:0000494
8 long face 31 HP:0000276
9 long philtrum 31 HP:0000343
10 high forehead 31 HP:0000348
11 blepharophimosis 31 HP:0000581
12 narrow nasal bridge 31 HP:0000446
13 sparse eyebrow 31 HP:0045075

Symptoms via clinical synopsis from OMIM:

56
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 face
long philtrum
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

Genetic tests related to Macrocephaly, Acquired, with Impaired Intellectual Development:

# Genetic test Affiliating Genes
1 Macrocephaly, Acquired, with Impaired Intellectual Development 29 NFIB

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. 56 6
30388402 2018

Variations for Macrocephaly, Acquired, with Impaired Intellectual Development

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

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NFIB NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter)SNV Pathogenic 560024 rs1554709792 9:14307441-14307441 9:14307442-14307442
2 NFIB NM_001190737.2(NFIB):c.341A>C (p.Lys114Thr)SNV Pathogenic 560025 rs1554709683 9:14307209-14307209 9:14307210-14307210
3 NFIB NM_001190737.2(NFIB):c.758_759dup (p.Asn254Ter)duplication Pathogenic 560028 rs1554649366 9:14150190-14150191 9:14150191-14150192
4 NFIB NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs)deletion Pathogenic 560029 rs1554639173 9:14120608-14120621 9:14120609-14120622
5 NFIB NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu)SNV Pathogenic/Likely pathogenic 560026 rs1554709662 9:14307174-14307174 9:14307175-14307175
6 NFIB NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro)SNV Pathogenic/Likely pathogenic 560027 rs1554709654 9:14307155-14307155 9:14307156-14307156
7 NFIB NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter)SNV Conflicting interpretations of pathogenicity 424344 rs764333096 9:14307285-14307285 9:14307286-14307286

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

73
# Symbol AA change Variation ID SNP ID
1 NFIB p.Lys114Thr VAR_081861 rs155470968
2 NFIB p.Lys126Glu VAR_081862 rs155470966
3 NFIB p.Leu132Pro VAR_081863 rs155470965

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 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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