CIMDAG
MCID: CMD005
MIFTS: 16

Cimdag Syndrome (CIMDAG)

Categories: Genetic diseases

Aliases & Classifications for Cimdag Syndrome

MalaCards integrated aliases for Cimdag Syndrome:

Name: Cimdag Syndrome 57 6
Cerebellar Hypoplasia, Cataracts, Impaired Intellectual Development, Congenital Microcephaly, Dystonia, Dyserythropoietic Anemia, and Growth Retardation 57
Cimdag 57

Characteristics:

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
onset in infancy
de novo mutations
one family with a homozygous mutation has been reported (last curated april 2021)


Classifications:



External Ids:

OMIM® 57 619273

Summaries for Cimdag Syndrome

OMIM® : 57 CIMDAG syndrome is a multisystemic disorder characterized by severely impaired psychomotor development and hematologic abnormalities apparent from early infancy. Affected individuals show poor overall growth with microcephaly, impaired intellectual development, poor or absent speech, poor eye contact, and motor problems, such as inability to walk, hypotonia, and spasticity. Brain imaging typically shows cerebral and cerebellar atrophy, thin corpus callosum, and delayed myelination. The associated hematologic abnormalities are variable, but are mostly consistent with congenital dyserythropoietic anemia (CDA) (summary by Rodger et al., 2020 and Seu et al., 2020). (619273) (Updated 20-May-2021)

MalaCards based summary : Cimdag Syndrome, is also known as cerebellar hypoplasia, cataracts, impaired intellectual development, congenital microcephaly, dystonia, dyserythropoietic anemia, and growth retardation. An important gene associated with Cimdag Syndrome is VPS4A (Vacuolar Protein Sorting 4 Homolog A). Affiliated tissues include eye and tongue.

Related Diseases for Cimdag Syndrome

Symptoms & Phenotypes for Cimdag Syndrome

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive
poor overall growth

Neurologic Central Nervous System:
ataxia
chorea
dyskinesia
hypertonia
dystonia
more
Abdomen Liver:
hepatomegaly

Head And Neck Head:
microcephaly

Hematology:
anemia
hemolytic anemia
reticulocytosis
dyserythropoiesis
ineffective hematopoiesis

Head And Neck Mouth:
open mouth
protruding tongue
gingival hyperplasia
exposed upper incisors

Skeletal Feet:
foot deformities
clubfoot

Laboratory Abnormalities:
increased ferritin

Skeletal Spine:
scoliosis

Abdomen Spleen:
splenomegaly

Skeletal Pelvis:
hip dysplasia

Head And Neck Face:
smooth philtrum
retrognathia
long face
long philtrum
dysmorphic facial features

Head And Neck Eyes:
strabismus
long palpebral fissures
congenital cataracts
poor visual fixation
retinopathy (in some patients)
more
Head And Neck Ears:
large ears
sensorineural hearing loss (in some patients)

Abdomen Gastrointestinal:
poor feeding
tube feeding

Clinical features from OMIM®:

619273 (Updated 20-May-2021)

Drugs & Therapeutics for Cimdag Syndrome

Search Clinical Trials , NIH Clinical Center for Cimdag Syndrome

Genetic Tests for Cimdag Syndrome

Anatomical Context for Cimdag Syndrome

MalaCards organs/tissues related to Cimdag Syndrome:

40
Eye, Tongue

Publications for Cimdag Syndrome

Articles related to Cimdag Syndrome:

# Title Authors PMID Year
1
VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis. 6 57
33460484 2021
2
De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment. 6 57
33186545 2020
3
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects. 57 6
33186543 2020

Variations for Cimdag Syndrome

ClinVar genetic disease variations for Cimdag Syndrome:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 VPS4A NM_013245.3(VPS4A):c.850A>T (p.Arg284Trp) SNV Pathogenic 976850 GRCh37: 16:69354671-69354671
GRCh38: 16:69320768-69320768
2 VPS4A NM_013245.3(VPS4A):c.850A>G (p.Arg284Gly) SNV Pathogenic 976851 GRCh37: 16:69354671-69354671
GRCh38: 16:69320768-69320768
3 VPS4A NM_013245.3(VPS4A):c.616G>A (p.Glu206Lys) SNV Pathogenic 976852 GRCh37: 16:69353442-69353442
GRCh38: 16:69319539-69319539
4 VPS4A NM_013245.3(VPS4A):c.608G>A (p.Gly203Glu) SNV Pathogenic 996555 GRCh37: 16:69353434-69353434
GRCh38: 16:69319531-69319531
5 VPS4A NM_013245.3(VPS4A):c.83C>T (p.Ala28Val) SNV Pathogenic 996556 GRCh37: 16:69349972-69349972
GRCh38: 16:69316069-69316069

Expression for Cimdag Syndrome

Search GEO for disease gene expression data for Cimdag Syndrome.

Pathways for Cimdag Syndrome

GO Terms for Cimdag Syndrome

Sources for Cimdag 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 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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