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

Microcephaly Autosomal Dominant ⁵³ ²⁹ ⁴⁴ ⁷³

Autosomal Dominant Microcephaly ¹² ⁵³ ¹⁵

Autosomal Dominant Primary Microcephaly ⁵³ ⁵⁹

Microcephaly with Autosomal Dominant Inheritance ⁵³

Characteristics:

Orphanet epidemiological data:

⁵⁹

autosomal dominant primary microcephaly
Inheritance: Autosomal dominant;

OMIM:

⁵⁷

Inheritance:
autosomal dominant form

HPO:

³²

microcephaly, autosomal dominant:
Inheritance autosomal dominant inheritance

Classifications:

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

See all MalaCards categories (disease lists)

ICD10: ³⁴

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations of the nervous system

Microcephaly

Orphanet: ⁵⁹

Rare neurological diseases

Developmental anomalies during embryogenesis

External Ids:

OMIM ⁵⁷ 156580

Disease Ontology ¹² DOID:14725

MeSH ⁴⁴ C537323

Orphanet ⁵⁹ ORPHA2514

MESH via Orphanet ⁴⁵ C537323

UMLS via Orphanet ⁷⁴ C0220693

ICD10 via Orphanet ³⁴ Q02

MedGen ⁴² C0220693

SNOMED-CT via HPO ⁶⁹ 263681008 271611007 275478007 more

UMLS ⁷³ C0220693

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Summaries for Microcephaly, Autosomal Dominant

NIH Rare Diseases : ⁵³ The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 2514Disease definitionAutosomal dominant primary microcephaly is 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.Visit the Orphanet disease page for more resources.

MalaCards based summary : Microcephaly, Autosomal Dominant, also known as microcephaly autosomal dominant, is related to microcephaly and microcephaly 18, primary, autosomal dominant. An important gene associated with Microcephaly, Autosomal Dominant is DPP6 (Dipeptidyl Peptidase Like 6). Affiliated tissues include brain, and related phenotypes are microcephaly and short stature

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)

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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 15, 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	Primary Autosomal Recessive Microcephaly
Primary Microcephaly

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

#	Related Disease	Score	Top Affiliating Genes
1	microcephaly	29.4	KIF11 DPP6
2	microcephaly 18, primary, autosomal dominant	11.4
3	microcephaly with or without chorioretinopathy, lymphedema, or mental retardation	11.1
4	lymphedema	10.1
5	congenital lymphedema	10.1
6	primary microcephaly	10.0
7	hydrocephalus	9.9
8	synostosis	9.9

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

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Symptoms & Phenotypes for Microcephaly, Autosomal Dominant

Symptoms via clinical synopsis from OMIM:

⁵⁷

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

Human phenotypes related to Microcephaly, Autosomal Dominant:

⁵⁹ ³² (show all 13)

#	Description	HPO Frequency	Orphanet Frequency	HPO Source Accession
1	microcephaly ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0000252
2	short stature ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0004322
3	protruding ear ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000411
4	reduced number of teeth ⁵⁹ ³²	hallmark (90%)	Very frequent (99-80%)	HP:0009804
5	horizontal nystagmus ⁵⁹ ³²	occasional (7.5%)	Occasional (29-5%)	HP:0000666
6	alternating esotropia ⁵⁹ ³²	frequent (33%)	Frequent (79-30%)	HP:0001137
7	broad thumb ³²			HP:0011304
8	upslanted palpebral fissure ³²			HP:0000582
9	hypotelorism ³²			HP:0000601
10	sloping forehead ³²			HP:0000340
11	broad hallux ³²			HP:0010055
12	overbite ³²			HP:0011094
13	small forehead ³²			HP:0000350

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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	Microcephaly Autosomal Dominant ²⁹

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Anatomical Context for Microcephaly, Autosomal Dominant

MalaCards organs/tissues related to Microcephaly, Autosomal Dominant:

⁴¹

Brain

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Publications for Microcephaly, Autosomal Dominant

Articles related to Microcephaly, Autosomal Dominant:

(show all 14)

#	Title	Authors	Year
1	Autosomal Dominant Microcephaly Associated With Congenital Lymphedema and Chorioretinopathy Due to a Novel Mutation in KIF11. ( 25764055 )		2015
2	Loss-of-function variation in the DPP6 gene is associated with autosomal dominant microcephaly and mental retardation. ( 23832105 )	Liao C....Li D.Z.	2013
3	Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. ( 22284827 )	Ostergaard P....Jeffery S.	2012
4	An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration. ( 12353901 )	Simonell F....Rinaldi M.M.	2002
5	Autosomal dominant microcephaly--lymphoedema-chorioretinal dysplasia syndrome. ( 11302131 )		2001
6	Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies. ( 9217213 )	Innis J.W....Sheldon S.	1997
7	Benign external hydrocephalus in a boy with autosomal dominant microcephaly. ( 8737983 )	Akaboshi I....Yoshioka S.	1996
8	New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis. ( 8074157 )	GiuffrA" L....Albanese A.	1994
9	Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging. ( 2274488 )	Persutte W.H....Brinker R.A.	1990
10	Autosomal dominant microcephaly with mental retardation. ( 2801773 )		1989
11	Autosomal dominant microcephaly without mental retardation. ( 3578190 )	Rossi L.N....Alberti S.	1987
12	Autosomal dominant microcephaly. ( 6834210 )	Tenconi R....Audino G.	1983
13	Autosomal dominant microcephaly. ( 7108678 )	Rossi L.N....Battilana M.P.	1982
14	Autosomal dominant microcephaly. ( 490235 )		1979

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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
1	DPP6	Dipeptidyl Peptidase Like 6	Protein Coding	366.7	Causative germline mutation (loss of function) ⁵⁹ DISEASES inferred ¹⁵
2	KIF11	Kinesin Family Member 11	Protein Coding	17.1	DISEASES inferred ¹⁵
3	PRAC1	PRAC1 Small Nuclear Protein	Protein Coding	4.98	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

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GO Terms for Microcephaly, Autosomal Dominant

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