Microcephaly, Autosomal Dominant disease: Malacards - Research Articles, Drugs, Genes, Clinical Trials

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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:

MalaCards categories:
Global: Rare diseases Fetal diseases Genetic diseases
Anatomical: Neuronal diseases Eye diseases Mental diseases

See all MalaCards categories (disease lists)

ICD10: ³³

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Microcephaly

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

SNOMED-CT via HPO ⁶⁸ 10816007 237836003 246799009 more

UMLS ⁷⁰ C0220693

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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)

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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:

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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)

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Drugs & Therapeutics for Microcephaly, Autosomal Dominant

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

Cochrane evidence based reviews: microcephaly autosomal dominant

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Genetic Tests for Microcephaly, Autosomal Dominant

Genetic tests related to Microcephaly, Autosomal Dominant:

#	Genetic test	Affiliating Genes
1	Autosomal Dominant Primary Microcephaly ²⁹

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Anatomical Context for Microcephaly, Autosomal Dominant

MalaCards organs/tissues related to Microcephaly, Autosomal Dominant:

⁴⁰

Eye

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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	Melamed Y...Frydman M	7834899	1994
2	Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face. ⁵⁷	Winter RM	7506485	1993
3	Dominantly inherited microcephaly, short stature and normal intelligence. ⁵⁷	Hennekam RC...Hennekam FA	1606714	1992
4	Dominantly inherited microcephaly, hypotelorism and normal intelligence. ⁵⁷	Evans DG	2036738	1991
5	Autosomal dominant microcephaly with mental retardation. ⁵⁷	Bawle E...Horton M	2801773	1989
6	Autosomal dominant isolated ('uncomplicated') microcephaly. ⁵⁷	Merlob P...Reisner SH	3236353	1988
7	Autosomal dominant microcephaly without mental retardation. ⁵⁷	Rossi LN...Alberti S	3578190	1987
8	Silent microcephaly: a distinct autosomal dominant trait. ⁵⁷	Ramirez ML...Cantu JM	6851218	1983
9	Autosomal dominant microcephaly. ⁵⁷	Rossi LN...Battilana MP	7108678	1982
10	Dominant inheritance of microcephaly with short stature. ⁵⁷	Burton BK	7296944	1981
11	Autosomal dominant microcephaly. ⁵⁷	Haslam RH...Smith DW	490235	1979
12	Little heads: inheritance and early detection. ⁵⁷	Hecht F...Kelly JV	490239	1979
13	10q23.31 microduplication encompassing PTEN decreases mTOR signalling activity and is associated with autosomal dominant primary microcephaly. ⁶¹	Oliveira D...Zatz M	30301738	2019

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Genes for Microcephaly, Autosomal Dominant

Genes related to Microcephaly, Autosomal Dominant (1 elite genes):

- Elite gene

- Cancer Census gene in COSMIC

#	Symbol	Description	Category	Score	Evidence	PubMed IDs
1	DPP6	Dipeptidyl Peptidase Like 6	Protein Coding	356.43	Causative germline mutation (loss of function) ⁵⁸ DISEASES inferred ¹⁵	23832105
2	KIF11	Kinesin Family Member 11	Protein Coding	7.11	DISEASES inferred ¹⁵
3	MIR6500	MicroRNA 6500	RNA Gene	6.07	DISEASES inferred ¹⁵
4	ACTR3C	Actin Related Protein 3C	Protein Coding	5.88	DISEASES inferred ¹⁵
5	ASPM	Assembly Factor For Spindle Microtubules	Protein Coding	5.78	DISEASES inferred ¹⁵
6	KIF20A	Kinesin Family Member 20A	Protein Coding	5.72	DISEASES inferred ¹⁵
7	ATP6V0E2	ATPase H+ Transporting V0 Subunit E2	Protein Coding	5.71	DISEASES inferred ¹⁵
8	ABCF3	ATP Binding Cassette Subfamily F Member 3	Protein Coding	5.54	DISEASES inferred ¹⁵

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Variations for Microcephaly, Autosomal Dominant

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Expression for Microcephaly, Autosomal Dominant

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

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Pathways for Microcephaly, Autosomal Dominant

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

#	Super pathways	Score	Top Affiliating Genes
1	MHC class II antigen presentation ⁶⁵	10.64	KIF20A KIF11

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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

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Sources for Microcephaly, Autosomal Dominant

¹ BioSystems

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³ CDC

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⁹ Cosmic

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²⁵ GeneReviews

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²⁷ GEO DataSets

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⁴⁰ MalaCards

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⁵¹ NDF-RT

⁵² NIH Clinical Center

⁵³ NINDS

⁵⁴ Novoseek

⁵⁵ Novus Biologicals

⁵⁶ OMIM via Orphanet

⁵⁷ OMIM® (Updated 20-May-2021)

⁵⁸ Orphanet

⁵⁹ PathCards

⁶⁰ PharmGKB

⁶¹ PubMed

⁶² PubMed Health

⁶³ QIAGEN

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⁶⁷ SNOMED-CT

⁶⁸ SNOMED-CT via HPO

⁶⁹ Tocris

⁷⁰ UMLS

⁷¹ UMLS via Orphanet

⁷² UniProtKB/Swiss-Prot

⁷³ Wikipedia