MIMIS
MCID: MCR326
MIFTS: 27

Microcephaly-Micromelia Syndrome (MIMIS)

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

Aliases & Classifications for Microcephaly-Micromelia Syndrome

MalaCards integrated aliases for Microcephaly-Micromelia Syndrome:

Name: Microcephaly-Micromelia Syndrome 57 58 73 29 6 39 71
Mimis 57 58 73

Characteristics:

OMIM®:

57 (Updated 05-Mar-2021)
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:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Microcephaly-Micromelia Syndrome

OMIM® : 57 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) (Updated 05-Mar-2021)

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 (DNA Replication Fork Stabilization Factor DONSON). The drug Vaccines has been mentioned in the context of this disorder. Related phenotypes are short neck and microcephaly

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 10.2
2 microcephaly, short stature, and limb abnormalities 10.1
3 dwarfism 10.1

Symptoms & Phenotypes for Microcephaly-Micromelia Syndrome

Human phenotypes related to Microcephaly-Micromelia Syndrome:

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

57 (Updated 05-Mar-2021)
Head And Neck Neck:
short neck

Growth Other:
intrauterine growth retardation

Head And Neck Ears:
low-set ears

Head And Neck Eyes:
microphthalmia
short palpebral fissures

Skeletal Skull:
craniosynostosis

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 Mouth:
cleft palate
microstomia

Head And Neck Face:
micrognathia

Prenatal Manifestations Amniotic Fluid:
cystic hygroma
oligohydramnios

Chest External Features:
narrow chest

Skeletal Limbs:
micromelia
humeroradial synostosis
hypoplastic tibia
hypoplastic fibulae
limb malformations (particularly of the arms)
more
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 (Updated 05-Mar-2021)

Drugs & Therapeutics for Microcephaly-Micromelia Syndrome

Drugs for Microcephaly-Micromelia Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vaccines

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Patients Presenting With Acute STEMI Treated With Primary PCI : Comparison of the Impact of the MIMI Approach With a Conventional Strategy of Immediate Stenting Completed NCT01360242 Phase 3
2 Mimi - mHealth to Increase Measles Immunization. A Randomized Controlled Trial. Unknown status NCT02662595
3 Posterior Capsule Opacification and Frequency of Nd:YAG Treatment and of Two IOLs: Hoya iMics Y-60H vs. Bausch&Lomb MI60 (MIMI) Completed NCT01786356

Search NIH Clinical Center for Microcephaly-Micromelia Syndrome

Genetic Tests for Microcephaly-Micromelia Syndrome

Genetic tests related to Microcephaly-Micromelia Syndrome:

# Genetic test Affiliating Genes
1 Microcephaly-Micromelia Syndrome 29 DONSON

Anatomical Context for Microcephaly-Micromelia Syndrome

Publications for Microcephaly-Micromelia Syndrome

Articles related to Microcephaly-Micromelia Syndrome:

(show all 11)
# 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. 57 6 61
28630177 2017
2
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 6 57
28191891 2017
3
Autosomal recessive microcephaly and micromelia in Cree Indians. 57
7468660 1980
4
The Unfavorable Result in Plastic Surgery: Avoidance and Treatment by Mimis N. Cohen and Seth R. ThallerNew York, NY: Thieme, 2018. 61
33555738 2020
5
Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. 61
31784481 2020
6
Assessment of Microstressors in Adults: Questionnaire Development and Ecological Validation of the Mainz Inventory of Microstressors. 61
32130154 2020
7
Fatal Mucormycosis and Aspergillosis in an Atypical Host: What Do We Know about Mixed Invasive Mold Infections? 61
32908735 2020
8
Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. 61
31407851 2019
9
Further Delineation of the Microcephaly-Micromelia Syndrome Associated with Loss-of-Function Variants in DONSON. 61
31191207 2019
10
Lithography-Free Planar Band-Pass Reflective Color Filter Using A Series Connection of Cavities. 61
30670767 2019
11
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>G SNV Pathogenic 431414 rs779149681 21:34954370-34954370 21:33582064-33582064
2 DONSON NM_017613.4(DONSON):c.786-22A>G SNV Likely pathogenic 431416 rs1135401960 21:34955994-34955994 21:33583688-33583688
3 DONSON NM_017613.4(DONSON):c.82A>C (p.Ser28Arg) SNV Uncertain significance 431446 rs768071555 21:34960866-34960866 21:33588560-33588560
4 DONSON NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) SNV Uncertain significance 431445 rs146664036 21:34951753-34951753 21:33579447-33579447

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
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 05-Mar-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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