MISSLA
MCID: MCR327
MIFTS: 26

Microcephaly, Short Stature, and Limb Abnormalities (MISSLA)

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

Aliases & Classifications for Microcephaly, Short Stature, and Limb Abnormalities

MalaCards integrated aliases for Microcephaly, Short Stature, and Limb Abnormalities:

Name: Microcephaly, Short Stature, and Limb Abnormalities 57 72 29 6
Missla 57 58 72
Microcephaly-Short Stature-Limb Abnormalities Syndrome 58
Microcephaly, Short Stature, Limb Abnormalities 39

Characteristics:

OMIM®:

57 (Updated 05-Apr-2021)
Inheritance:
autosomal recessive

Miscellaneous:
variable phenotype
onset in utero


HPO:

31
microcephaly, short stature, and limb abnormalities:
Inheritance autosomal recessive inheritance
Onset and clinical course congenital onset


Classifications:

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


Summaries for Microcephaly, Short Stature, and Limb Abnormalities

OMIM® : 57 MISSLA is an autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Affected individuals typically have mild intellectual disability, but may have normal development (summary by Reynolds et al., 2017). (617604) (Updated 05-Apr-2021)

MalaCards based summary : Microcephaly, Short Stature, and Limb Abnormalities, also known as missla, is related to donson-related microcephaly-short stature-limb abnormalities spectrum and microcephaly. An important gene associated with Microcephaly, Short Stature, and Limb Abnormalities is DONSON (DNA Replication Fork Stabilization Factor DONSON). Affiliated tissues include bone, and related phenotypes are global developmental delay and intellectual disability, mild

UniProtKB/Swiss-Prot : 72 Microcephaly, short stature, and limb abnormalities: An autosomal recessive disorder characterized by intrauterine growth retardation, microcephaly, variable short stature, and limb abnormalities mainly affecting the upper limb and radial ray. Mild intellectual disability and developmental delay is observed in some patients.

Related Diseases for Microcephaly, Short Stature, and Limb Abnormalities

Diseases in the Microcephaly, Short Stature, and Limb Abnormalities family:

Donson-Related Microcephaly-Short Stature-Limb Abnormalities Spectrum

Diseases related to Microcephaly, Short Stature, and Limb Abnormalities via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 donson-related microcephaly-short stature-limb abnormalities spectrum 11.4
2 microcephaly 10.1

Symptoms & Phenotypes for Microcephaly, Short Stature, and Limb Abnormalities

Human phenotypes related to Microcephaly, Short Stature, and Limb Abnormalities:

31 (show all 18)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 intellectual disability, mild 31 very rare (1%) HP:0001256
3 patellar aplasia 31 very rare (1%) HP:0006443
4 simplified gyral pattern 31 very rare (1%) HP:0009879
5 delayed skeletal maturation 31 HP:0002750
6 microcephaly 31 HP:0000252
7 short stature 31 HP:0004322
8 intrauterine growth retardation 31 HP:0001511
9 upslanted palpebral fissure 31 HP:0000582
10 brachydactyly 31 HP:0001156
11 clinodactyly of the 5th finger 31 HP:0004209
12 abnormality of the ribs 31 HP:0000772
13 radioulnar synostosis 31 HP:0002974
14 convex nasal ridge 31 HP:0000444
15 short metacarpal 31 HP:0010049
16 hypoplasia of the radius 31 HP:0002984
17 dislocated radial head 31 HP:0003083
18 mesomelia 31 HP:0003027

Symptoms via clinical synopsis from OMIM®:

57 (Updated 05-Apr-2021)
Growth Other:
intrauterine growth retardation

Skeletal Limbs:
radioulnar synostosis
mesomelia
radial head dislocation
hypoplastic radius
elbow subluxation
more
Skeletal:
delayed bone age

Neurologic Central Nervous System:
intellectual disability, mild (in some patients)
delayed development (in some patients)
simplified gyral pattern (in some patients)
some patients have normal development
decreased cerebral cortical size

Skin Nails Hair Skin:
pigmentary abnormalities (in some patients)

Head And Neck Head:
microcephaly (-2.4 to -10.7 sd)

Skeletal Hands:
brachydactyly
fifth finger clinodactyly
short metacarpals
short carpals
thumb dysplasia

Head And Neck Nose:
beaked nose

Head And Neck Eyes:
upslanting palpebral fissures

Chest Ribs Sternum Clavicles And Scapulae:
rib abnormalities

Growth Height:
short stature (-1.2 to -5 sd, 1 pt -8.4 sd)

Clinical features from OMIM®:

617604 (Updated 05-Apr-2021)

Drugs & Therapeutics for Microcephaly, Short Stature, and Limb Abnormalities

Search Clinical Trials , NIH Clinical Center for Microcephaly, Short Stature, and Limb Abnormalities

Genetic Tests for Microcephaly, Short Stature, and Limb Abnormalities

Genetic tests related to Microcephaly, Short Stature, and Limb Abnormalities:

# Genetic test Affiliating Genes
1 Microcephaly, Short Stature, and Limb Abnormalities 29 DONSON

Anatomical Context for Microcephaly, Short Stature, and Limb Abnormalities

MalaCards organs/tissues related to Microcephaly, Short Stature, and Limb Abnormalities:

40
Bone

Publications for Microcephaly, Short Stature, and Limb Abnormalities

Articles related to Microcephaly, Short Stature, and Limb Abnormalities:

# Title Authors PMID Year
1
Mutations in DONSON disrupt replication fork stability and cause microcephalic dwarfism. 6 57
28191891 2017
2
A new autosomal recessive anomaly mimicking Fanconi's anaemia phenotype. 57 6
8434992 1993
3
Integrated genome and transcriptome sequencing identifies a noncoding mutation in the genome replication factor DONSON as the cause of microcephaly-micromelia syndrome. 6
28630177 2017
4
Differentiation of MISSLA and Fanconi anaemia by computer-aided image analysis and presentation of two novel MISSLA siblings. 61
31320746 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

Variations for Microcephaly, Short Stature, and Limb Abnormalities

ClinVar genetic disease variations for Microcephaly, Short Stature, and Limb Abnormalities:

6 (show all 14)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 DONSON NM_017613.4(DONSON):c.1337T>C (p.Met446Thr) SNV Pathogenic 431415 rs1135401959 GRCh37: 21:34953621-34953621
GRCh38: 21:33581315-33581315
2 DONSON NM_017613.4(DONSON):c.1251_1256del (p.Asn417_Ser418del) Deletion Pathogenic 431418 rs1135401961 GRCh37: 21:34953702-34953707
GRCh38: 21:33581396-33581401
3 DONSON NM_017613.4(DONSON):c.786-22A>G SNV Pathogenic 431416 rs1135401960 GRCh37: 21:34955994-34955994
GRCh38: 21:33583688-33583688
4 DONSON NM_017613.4(DONSON):c.1282C>T (p.Gln428Ter) SNV Pathogenic 431419 rs993687029 GRCh37: 21:34953676-34953676
GRCh38: 21:33581370-33581370
5 DONSON NM_017613.4(DONSON):c.876C>G (p.Phe292Leu) SNV Pathogenic 431420 rs779803447 GRCh37: 21:34955882-34955882
GRCh38: 21:33583576-33583576
6 DONSON NM_017613.4(DONSON):c.1563+1G>T SNV Pathogenic 587636 rs534299298 GRCh37: 21:34951655-34951655
GRCh38: 21:33579349-33579349
7 DONSON NM_017613.4(DONSON):c.683G>A (p.Trp228Ter) SNV Pathogenic 488493 rs777061964 GRCh37: 21:34956998-34956998
GRCh38: 21:33584692-33584692
8 DONSON NM_017613.4(DONSON):c.786-33A>G SNV Pathogenic 431417 rs192585552 GRCh37: 21:34956005-34956005
GRCh38: 21:33583699-33583699
9 DONSON NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) SNV Likely pathogenic 431445 rs146664036 GRCh37: 21:34951753-34951753
GRCh38: 21:33579447-33579447
10 DONSON NM_017613.4(DONSON):c.1466A>C (p.Lys489Thr) SNV Likely pathogenic 431445 rs146664036 GRCh37: 21:34951753-34951753
GRCh38: 21:33579447-33579447
11 DONSON NM_017613.4(DONSON):c.1047-9A>G SNV Uncertain significance 431414 rs779149681 GRCh37: 21:34954370-34954370
GRCh38: 21:33582064-33582064
12 DONSON NM_017613.4(DONSON):c.642C>G (p.Phe214Leu) SNV Uncertain significance 1029476 GRCh37: 21:34957039-34957039
GRCh38: 21:33584733-33584733
13 DONSON NM_017613.4(DONSON):c.919A>G (p.Ile307Val) SNV Uncertain significance 1033429 GRCh37: 21:34955839-34955839
GRCh38: 21:33583533-33583533
14 DONSON NM_017613.4(DONSON):c.1146C>G (p.Ile382Met) SNV Likely benign 977879 GRCh37: 21:34954262-34954262
GRCh38: 21:33581956-33581956

UniProtKB/Swiss-Prot genetic disease variations for Microcephaly, Short Stature, and Limb Abnormalities:

72
# Symbol AA change Variation ID SNP ID
1 DONSON p.Cys278Arg VAR_079331
2 DONSON p.Tyr282Cys VAR_079332
3 DONSON p.Phe292Leu VAR_079333 rs779803447
4 DONSON p.Pro433Ser VAR_079338
5 DONSON p.Met446Thr VAR_079339 rs113540195
6 DONSON p.Glu504Lys VAR_079341 rs374688527

Expression for Microcephaly, Short Stature, and Limb Abnormalities

Search GEO for disease gene expression data for Microcephaly, Short Stature, and Limb Abnormalities.

Pathways for Microcephaly, Short Stature, and Limb Abnormalities

GO Terms for Microcephaly, Short Stature, and Limb Abnormalities

Sources for Microcephaly, Short Stature, and Limb Abnormalities

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-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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