MCID: MCR329
MIFTS: 29

Microcephaly, Autosomal Dominant

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

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:



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
UMLS 73 C0220693

Summaries for Microcephaly, Autosomal Dominant

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)

MalaCards based summary : Microcephaly, Autosomal Dominant, also known as microcephaly autosomal dominant, is related to microcephaly and microcephaly with or without chorioretinopathy, lymphedema, or mental retardation. An important gene associated with Microcephaly, Autosomal Dominant is DPP6 (Dipeptidyl Peptidase Like 6). Related phenotypes are microcephaly and short stature

Related Diseases for Microcephaly, Autosomal Dominant

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 12)
# 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

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 Microcephaly Autosomal Dominant 29

Anatomical Context for Microcephaly, Autosomal Dominant

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 )
2013
3
Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy. ( 22284827 )
2012
4
An Italian family affected by autosomal dominant microcephaly with chorioretinal degeneration. ( 12353901 )
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 )
1997
7
Benign external hydrocephalus in a boy with autosomal dominant microcephaly. ( 8737983 )
1996
8
New syndrome: autosomal dominant microcephaly and radio-ulnar synostosis. ( 8074157 )
1994
9
Prenatal diagnosis of autosomal dominant microcephaly and postnatal evaluation with magnetic resonance imaging. ( 2274488 )
1990
10
Autosomal dominant microcephaly with mental retardation. ( 2801773 )
1989
11
Autosomal dominant microcephaly without mental retardation. ( 3578190 )
1987
12
Autosomal dominant microcephaly. ( 6834210 )
1983
13
Autosomal dominant microcephaly. ( 7108678 )
1982
14
Autosomal dominant microcephaly. ( 490235 )
1979

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

GO Terms for Microcephaly, Autosomal Dominant

Sources for Microcephaly, Autosomal Dominant

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 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 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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