MCID: MCR329
MIFTS: 33

Microcephaly, Autosomal Dominant

Categories: Eye diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Microcephaly, Autosomal Dominant

MalaCards integrated aliases for Microcephaly, Autosomal Dominant:

Name: Microcephaly, Autosomal Dominant 57
Autosomal Dominant Primary Microcephaly 20 58 29
Autosomal Dominant Microcephaly 12 20 15
Microcephaly Autosomal Dominant 20 44 70
Microcephaly with Autosomal Dominant Inheritance 20

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant primary microcephaly
Inheritance: Autosomal dominant;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant form


HPO:

31
microcephaly, autosomal dominant:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:14725
OMIM® 57 156580
MeSH 44 C537323
MESH via Orphanet 45 C537323
ICD10 via Orphanet 33 Q02
UMLS via Orphanet 71 C0220693
Orphanet 58 ORPHA2514
MedGen 41 C0220693
UMLS 70 C0220693

Summaries for Microcephaly, Autosomal Dominant

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 2514 Definition A rare, genetic, non-syndromic, developmental defect during embryogenesis malformation syndrome characterized by a congenital, non-progressive, occipitofrontal head circumference that is 2 or more standard deviations below the mean for age, gender and ethnicity which is associated with normal brain architecture and uncomplicated by other abnormalities. Borderline to moderate intellectual disability, as well as early psychomotor delay, may or may not be associated.

MalaCards based summary : Microcephaly, Autosomal Dominant, also known as autosomal dominant primary microcephaly, is related to microcephaly with or without chorioretinopathy, lymphedema, or mental retardation and microcephaly 18, primary, autosomal dominant. An important gene associated with Microcephaly, Autosomal Dominant is DPP6 (Dipeptidyl Peptidase Like 6), and among its related pathways/superpathways is MHC class II antigen presentation. Affiliated tissues include eye, and related phenotypes are microcephaly and short stature

Disease Ontology : 12 A microcephaly that has material basis in heterozygous mutation in an autosomal gene.

OMIM® : 57 Microcephaly strictly means abnormally small head size, but usually refers to an occipitofrontal head circumference below -2 SD from the mean for the infant's gestational age, sex, and ethnic origin. Microcephaly may appear as an isolated trait or in association with other malformations. It may also be sporadic or familial. Some familial cases are autosomal dominant, but most appear to be recessive (see 251200) (summary by Merlob et al., 1988). (156580) (Updated 20-May-2021)

Related Diseases for Microcephaly, Autosomal Dominant

Diseases in the Microcephaly family:

Microcephaly, Autosomal Dominant Microcephaly 1, Primary, Autosomal Recessive
Microcephaly 4, Primary, Autosomal Recessive Microcephaly 3, Primary, Autosomal Recessive
Microcephaly 6, Primary, Autosomal Recessive Microcephaly 5, Primary, Autosomal Recessive
Microcephaly 7, Primary, Autosomal Recessive Microcephaly 8, Primary, Autosomal Recessive
Microcephaly 9, Primary, Autosomal Recessive Microcephaly 10, Primary, Autosomal Recessive
Microcephaly 11, Primary, Autosomal Recessive Microcephaly 13, Primary, Autosomal Recessive
Microcephaly 12, Primary, Autosomal Recessive Microcephaly 14, Primary, Autosomal Recessive
Microcephaly 16, Primary, Autosomal Recessive Microcephaly 17, Primary, Autosomal Recessive
Microcephaly 18, Primary, Autosomal Dominant Microcephaly 19, Primary, Autosomal Recessive
Microcephaly 20, Primary, Autosomal Recessive Microcephaly 21, Primary, Autosomal Recessive
Microcephaly 22, Primary, Autosomal Recessive Microcephaly 23, Primary, Autosomal Recessive
Microcephaly 24, Primary, Autosomal Recessive Microcephaly 25, Primary, Autosomal Recessive
Microcephaly 26, Primary, Autosomal Dominant Microcephaly 27, Primary, Autosomal Dominant
Primary Autosomal Recessive Microcephaly Primary Microcephaly

Diseases related to Microcephaly, Autosomal Dominant via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 21)
# Related Disease Score Top Affiliating Genes
1 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation 31.3 KIF11 ASPM
2 microcephaly 18, primary, autosomal dominant 11.3
3 microcephaly 26, primary, autosomal dominant 11.1
4 microcephaly 27, primary, autosomal dominant 11.1
5 microcephaly 10.5
6 hereditary lymphedema i 10.1
7 congenital lymphedema 10.1
8 alacrima, achalasia, and mental retardation syndrome 10.0
9 autism spectrum disorder 10.0
10 primary autosomal recessive microcephaly 10.0
11 primary microcephaly 10.0
12 lymphatic malformation 1 9.9
13 feingold syndrome 1 9.9
14 chromosome 2q35 duplication syndrome 9.9
15 radioulnar synostosis with microcephaly, short stature, scoliosis, and mental retardation 9.9
16 mental retardation, autosomal dominant 33 9.9
17 hydrocephalus 9.9
18 myopia 9.9
19 synostosis 9.9
20 learning disability 9.9
21 pachygyria 9.9

Graphical network of the top 20 diseases related to Microcephaly, Autosomal Dominant:



Diseases related to Microcephaly, Autosomal Dominant

Symptoms & Phenotypes for Microcephaly, Autosomal Dominant

Human phenotypes related to Microcephaly, Autosomal Dominant:

58 31 (show all 13)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
2 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
3 reduced number of teeth 58 31 hallmark (90%) Very frequent (99-80%) HP:0009804
4 alternating esotropia 58 31 frequent (33%) Frequent (79-30%) HP:0001137
5 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
6 horizontal nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000666
7 broad thumb 31 HP:0011304
8 upslanted palpebral fissure 31 HP:0000582
9 hypotelorism 31 HP:0000601
10 sloping forehead 31 HP:0000340
11 broad hallux 31 HP:0010055
12 overbite 31 HP:0011094
13 small forehead 31 HP:0000350

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head:
microcephaly
receding or small forehead

Eyes:
hypotelorism
horizontal nystagmus
alternating esotropia
upslanting palpebral fissures

Facies:
philtrum fullness
maxillary overbite

Limbs:
broad thumbs and great toes

Growth:
short stature

Ears:
prominent ears

Neuro:
normal intelligence, occasional mild mental retardation

Clinical features from OMIM®:

156580 (Updated 20-May-2021)

Drugs & Therapeutics for Microcephaly, Autosomal Dominant

Search Clinical Trials , NIH Clinical Center for Microcephaly, Autosomal Dominant

Cochrane evidence based reviews: microcephaly autosomal dominant

Genetic Tests for Microcephaly, Autosomal Dominant

Genetic tests related to Microcephaly, Autosomal Dominant:

# Genetic test Affiliating Genes
1 Autosomal Dominant Primary Microcephaly 29

Anatomical Context for Microcephaly, Autosomal Dominant

MalaCards organs/tissues related to Microcephaly, Autosomal Dominant:

40
Eye

Publications for Microcephaly, Autosomal Dominant

Articles related to Microcephaly, Autosomal Dominant:

(show all 13)
# Title Authors PMID Year
1
Oligodontia, short stature and small head circumference with normal intelligence. 57
7834899 1994
2
Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face. 57
7506485 1993
3
Dominantly inherited microcephaly, short stature and normal intelligence. 57
1606714 1992
4
Dominantly inherited microcephaly, hypotelorism and normal intelligence. 57
2036738 1991
5
Autosomal dominant microcephaly with mental retardation. 57
2801773 1989
6
Autosomal dominant isolated ('uncomplicated') microcephaly. 57
3236353 1988
7
Autosomal dominant microcephaly without mental retardation. 57
3578190 1987
8
Silent microcephaly: a distinct autosomal dominant trait. 57
6851218 1983
9
Autosomal dominant microcephaly. 57
7108678 1982
10
Dominant inheritance of microcephaly with short stature. 57
7296944 1981
11
Autosomal dominant microcephaly. 57
490235 1979
12
Little heads: inheritance and early detection. 57
490239 1979
13
10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. 61
30301738 2019

Variations for Microcephaly, Autosomal Dominant

Expression for Microcephaly, Autosomal Dominant

Search GEO for disease gene expression data for Microcephaly, Autosomal Dominant.

Pathways for Microcephaly, Autosomal Dominant

Pathways related to Microcephaly, Autosomal Dominant according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 10.64 KIF20A KIF11

GO Terms for Microcephaly, Autosomal Dominant

Cellular components related to Microcephaly, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule GO:0005874 9.33 KIF20A KIF11 ASPM
2 spindle pole GO:0000922 9.26 KIF11 ASPM
3 kinesin complex GO:0005871 8.96 KIF20A KIF11
4 spindle GO:0005819 8.8 KIF20A KIF11 ASPM

Biological processes related to Microcephaly, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 microtubule-based movement GO:0007018 8.96 KIF20A KIF11
2 spindle organization GO:0007051 8.62 KIF11 ASPM

Molecular functions related to Microcephaly, Autosomal Dominant according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 ATP binding GO:0005524 9.26 KIF20A KIF11 ACTR3C ABCF3
2 microtubule motor activity GO:0003777 8.62 KIF20A KIF11

Sources for Microcephaly, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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