MCID: MCR326
MIFTS: 17

Microcephaly-Micromelia Syndrome

Categories: Genetic diseases

Aliases & Classifications for Microcephaly-Micromelia Syndrome

MalaCards integrated aliases for Microcephaly-Micromelia Syndrome:

Name: Microcephaly-Micromelia Syndrome 57 75 6 40 73
Mimis 57 75

Characteristics:

OMIM:

57
Inheritance:
autosomal recessive

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


HPO:

32
microcephaly-micromelia syndrome:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 251230
MedGen 42 C1855079
UMLS 73 C1855079

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)

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

UniProtKB/Swiss-Prot : 75 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 10.1

Symptoms & Phenotypes for Microcephaly-Micromelia Syndrome

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Ears:
low-set ears

Head And Neck Mouth:
cleft palate
microstomia

Chest External Features:
narrow chest

Growth Other:
intrauterine growth retardation

Head And Neck Eyes:
microphthalmia
short palpebral fissures

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

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities

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

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

Head And Neck Neck:
short neck

Head And Neck Face:
micrognathia

Skeletal Limbs:
micromelia
humeroradial synostosis
hypoplastic tibia
hypoplastic fibulae
limb malformations (particularly of the arms)
more
Prenatal Manifestations Amniotic Fluid:
cystic hygroma
oligohydramnios

Skeletal Skull:
craniosynostosis

Head And Neck Nose:
beaked nose
broad nose

Skeletal Feet:
club feet
toe abnormalities

Respiratory Lung:
hypoplastic lungs


Clinical features from OMIM:

251230

Human phenotypes related to Microcephaly-Micromelia Syndrome:

32
# Description HPO Frequency HPO Source Accession
1 microcephaly 32 HP:0000252
2 micromelia 32 HP:0002983
3 intrauterine growth retardation 32 HP:0001511
4 abnormality of the hand 32 HP:0001155
5 forearm undergrowth 32 HP:0009821

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:

41
Lung, Bone

Publications for Microcephaly-Micromelia Syndrome

Articles related to Microcephaly-Micromelia Syndrome:

# Title Authors Year
1
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. ( 28630177 )
2017

Variations for Microcephaly-Micromelia Syndrome

ClinVar genetic disease variations for Microcephaly-Micromelia Syndrome:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 DONSON NM_017613.3(DONSON): c.1047-9A> G single nucleotide variant Pathogenic rs779149681 GRCh38 Chromosome 21, 33582064: 33582064
2 DONSON NM_017613.3(DONSON): c.1047-9A> G single nucleotide variant Pathogenic rs779149681 GRCh37 Chromosome 21, 34954370: 34954370
3 DONSON NM_017613.3(DONSON): c.1466A> C (p.Lys489Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs146664036 GRCh38 Chromosome 21, 33579447: 33579447
4 DONSON NM_017613.3(DONSON): c.1466A> C (p.Lys489Thr) single nucleotide variant Conflicting interpretations of pathogenicity rs146664036 GRCh37 Chromosome 21, 34951753: 34951753
5 DONSON NM_017613.3(DONSON): c.82A> C (p.Ser28Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs768071555 GRCh38 Chromosome 21, 33588560: 33588560
6 DONSON NM_017613.3(DONSON): c.82A> C (p.Ser28Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs768071555 GRCh37 Chromosome 21, 34960866: 34960866

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 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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