MIMIS
MCID: MCR326
MIFTS: 23

Microcephaly-Micromelia Syndrome (MIMIS)

Categories: Genetic diseases

Aliases & Classifications for Microcephaly-Micromelia Syndrome

MalaCards integrated aliases for Microcephaly-Micromelia Syndrome:

Name: Microcephaly-Micromelia Syndrome 56 73 6 39 71
Mimis 56 73

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
increased frequency among cree indians from saskatchewan
death in utero or in the perinatal period due to respiratory failure


HPO:

31
microcephaly-micromelia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Microcephaly-Micromelia Syndrome

OMIM : 56 Microcephaly-micromelia syndrome (MIMIS) is a severe autosomal recessive disorder that usually results in death in utero or in the perinatal period. Affected individuals have severe growth retardation with microcephaly and variable malformations of the limbs, particularly the upper limbs. Defects include radial ray anomalies, malformed digits, and clubfeet (summary by Evrony et al., 2017). (251230)

MalaCards based summary : Microcephaly-Micromelia Syndrome, also known as mimis, is related to microcephaly and microcephaly, short stature, and limb abnormalities. An important gene associated with Microcephaly-Micromelia Syndrome is DONSON (Downstream Neighbor Of SON). Affiliated tissues include bone and lung, and related phenotypes are low-set ears and short neck

UniProtKB/Swiss-Prot : 73 Microcephaly-micromelia syndrome: A severe autosomal recessive disorder characterized by intrauterine growth restriction, marked microcephaly, craniofacial anomalies, skeletal dysplasia, and variable malformations of the limbs, particularly the upper limbs. It usually results in death in utero or in the perinatal period.

Related Diseases for Microcephaly-Micromelia Syndrome

Diseases related to Microcephaly-Micromelia Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 microcephaly 10.4
2 microcephaly, short stature, and limb abnormalities 10.3
3 dwarfism 10.3

Symptoms & Phenotypes for Microcephaly-Micromelia Syndrome

Human phenotypes related to Microcephaly-Micromelia Syndrome:

31 (show all 27)
# Description HPO Frequency HPO Source Accession
1 low-set ears 31 HP:0000369
2 short neck 31 HP:0000470
3 micrognathia 31 HP:0000347
4 craniosynostosis 31 HP:0001363
5 intrauterine growth retardation 31 HP:0001511
6 microcephaly 31 HP:0000252
7 cleft palate 31 HP:0000175
8 narrow chest 31 HP:0000774
9 micromelia 31 HP:0002983
10 narrow mouth 31 HP:0000160
11 cystic hygroma 31 HP:0000476
12 talipes equinovarus 31 HP:0001762
13 microphthalmia 31 HP:0000568
14 oligohydramnios 31 HP:0001562
15 abnormality of the ribs 31 HP:0000772
16 abnormality of the hand 31 HP:0001155
17 convex nasal ridge 31 HP:0000444
18 wide nose 31 HP:0000445
19 aplasia/hypoplasia of the corpus callosum 31 HP:0007370
20 pulmonary hypoplasia 31 HP:0002089
21 oligodactyly 31 HP:0012165
22 short palpebral fissure 31 HP:0012745
23 absent radius 31 HP:0003974
24 short tibia 31 HP:0005736
25 humeroradial synostosis 31 HP:0003041
26 forearm undergrowth 31 HP:0009821
27 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears

Head And Neck Face:
micrognathia

Growth Other:
intrauterine growth retardation

Chest External Features:
narrow chest

Prenatal Manifestations Amniotic Fluid:
cystic hygroma
oligohydramnios

Skeletal Hands:
oligodactyly
thumb abnormalities
absence of the thumb
poorly developed fifth fingers
bifid metacarpal bones

Head And Neck Nose:
beaked nose
broad nose

Skeletal Feet:
club feet
toe abnormalities

Head And Neck Head:
microcephaly, severe (up to -10 sd)

Head And Neck Neck:
short neck

Skeletal Skull:
craniosynostosis

Head And Neck Mouth:
cleft palate
microstomia

Skeletal Limbs:
micromelia
humeroradial synostosis
hypoplastic tibia
hypoplastic fibulae
limb malformations (particularly of the arms)
more
Head And Neck Eyes:
microphthalmia
short palpebral fissures

Neurologic Central Nervous System:
simplified gyral pattern
hypoplastic or absent corpus callosum
decreased sulci and gyri
diminished white matter
interhemispheric cysts

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities

Respiratory Lung:
hypoplastic lungs

Clinical features from OMIM:

251230

Drugs & Therapeutics for Microcephaly-Micromelia Syndrome

Search Clinical Trials , NIH Clinical Center for Microcephaly-Micromelia Syndrome

Genetic Tests for Microcephaly-Micromelia Syndrome

Anatomical Context for Microcephaly-Micromelia Syndrome

MalaCards organs/tissues related to Microcephaly-Micromelia Syndrome:

40
Bone, Lung

Publications for Microcephaly-Micromelia Syndrome

Articles related to Microcephaly-Micromelia Syndrome:

# Title Authors PMID Year
1
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. 61 56 6
28630177 2017
2
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 6 56
28191891 2017
3
Autosomal recessive microcephaly and micromelia in Cree Indians. 56
7468660 1980
4
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. 61
31784481 2019
5
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. 61
31407851 2019
6
Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON. 61
31191207 2019
7
Lithography-Free Planar Band-Pass Reflective Color Filter Using A Series Connection of Cavities. 61
30670767 2019
8
Triadic male-infant-male interaction serves in bond maintenance in male Assamese macaques. 61
29045402 2017

Variations for Microcephaly-Micromelia Syndrome

ClinVar genetic disease variations for Microcephaly-Micromelia Syndrome:

6 ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 DONSON NM_017613.4(DONSON):c.1047-9A>GSNV Pathogenic 431414 rs779149681 21:34954370-34954370 21:33582064-33582064
2 DONSON NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr)SNV Conflicting interpretations of pathogenicity 431445 rs146664036 21:34951753-34951753 21:33579447-33579447
3 DONSON NM_017613.4(DONSON):c.82A>C (p.Ser28Arg)SNV Conflicting interpretations of pathogenicity 431446 rs768071555 21:34960866-34960866 21:33588560-33588560

Expression for Microcephaly-Micromelia Syndrome

Search GEO for disease gene expression data for Microcephaly-Micromelia Syndrome.

Pathways for Microcephaly-Micromelia Syndrome

GO Terms for Microcephaly-Micromelia Syndrome

Sources for Microcephaly-Micromelia Syndrome

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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