IMMAS
MCID: IMG002
MIFTS: 25

Imagawa-Matsumoto Syndrome (IMMAS)

Categories: Genetic diseases, Muscle diseases

Aliases & Classifications for Imagawa-Matsumoto Syndrome

MalaCards integrated aliases for Imagawa-Matsumoto Syndrome:

Name: Imagawa-Matsumoto Syndrome 56 73 29 6
Immas 56 73
Syndrome, Imagawa-Matsumoto 39

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant


HPO:

31
imagawa-matsumoto syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Imagawa-Matsumoto Syndrome

OMIM : 56 Imagawa-Matsumoto syndrome (IMMAS) is characterized by variable pre- and postnatal overgrowth; dysmorphic features including postnatal macrocephaly, prominent forehead, round face, hypertelorism, downslanting palpebral fissures, and low and broad nasal bridge; and variable musculoskeletal abnormalities. Developmental delay and impaired intellectual development are common, whereas abnormalities of cerebral imaging are uncommon but may be significant. Some patients exhibit genitourinary abnormalities, and respiratory issues have been reported (Cyrus et al., 2019). (618786)

MalaCards based summary : Imagawa-Matsumoto Syndrome, also known as immas, is related to weaver syndrome and kala-azar 1. An important gene associated with Imagawa-Matsumoto Syndrome is SUZ12 (SUZ12 Polycomb Repressive Complex 2 Subunit). Affiliated tissues include brain and bone, and related phenotypes are intellectual disability and global developmental delay

UniProtKB/Swiss-Prot : 73 Imagawa-Matsumoto syndrome: An autosomal dominant syndrome characterized by generalized overgrowth, dysmorphic features, musculoskeletal abnormalities, developmental delay and intellectual disability. Some patients have genitourinary and structural brain abnormalities.

Related Diseases for Imagawa-Matsumoto Syndrome

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

# Related Disease Score Top Affiliating Genes
1 weaver syndrome 11.6
2 kala-azar 1 10.2
3 leishmaniasis 10.2
4 visceral leishmaniasis 10.2
5 splenomegaly 10.2

Graphical network of the top 20 diseases related to Imagawa-Matsumoto Syndrome:



Diseases related to Imagawa-Matsumoto Syndrome

Symptoms & Phenotypes for Imagawa-Matsumoto Syndrome

Human phenotypes related to Imagawa-Matsumoto Syndrome:

31 (show all 25)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 very rare (1%) HP:0001249
2 global developmental delay 31 very rare (1%) HP:0001263
3 hypertelorism 31 very rare (1%) HP:0000316
4 prominent supraorbital ridges 31 very rare (1%) HP:0000336
5 macrocephaly 31 very rare (1%) HP:0000256
6 mandibular prognathia 31 very rare (1%) HP:0000303
7 umbilical hernia 31 very rare (1%) HP:0001537
8 prominent forehead 31 very rare (1%) HP:0011220
9 cryptorchidism 31 very rare (1%) HP:0000028
10 melanocytic nevus 31 very rare (1%) HP:0000995
11 downslanted palpebral fissures 31 very rare (1%) HP:0000494
12 agenesis of corpus callosum 31 very rare (1%) HP:0001274
13 round face 31 very rare (1%) HP:0000311
14 polymicrogyria 31 very rare (1%) HP:0002126
15 anteriorly placed anus 31 very rare (1%) HP:0001545
16 accelerated skeletal maturation 31 very rare (1%) HP:0005616
17 generalized hypotonia 31 very rare (1%) HP:0001290
18 hypertrichosis 31 very rare (1%) HP:0000998
19 overgrowth 31 very rare (1%) HP:0001548
20 birth length greater than 97th percentile 31 very rare (1%) HP:0003517
21 large hands 31 HP:0001176
22 camptodactyly 31 HP:0012385
23 clinodactyly 31 HP:0030084
24 long foot 31 HP:0001833
25 wide nasal ridge 31 HP:0012811

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures (in some patients)
epicanthal folds (rare)
long palpebral fissures (rare)
flame-like palpebral fissures (rare)
more
Skeletal Skull:
macrocephaly

Skeletal Hands:
large hands
camptodactyly (in some patients)
clinodactyly (in some patients)
short fifth fingers, bilateral (rare)
short fourth fingers, bilateral (rare)

Genitourinary Internal Genitalia Male:
cryptorchidism (in some patients)

Skeletal Feet:
large feet
camptodactyly (in some patients)
pes planus (in some patients)
clinodactyly (in some patients)

Growth Height:
increased birth length
increased stature

Head And Neck Ears:
large ears (in some patients)

Growth Other:
generalized postnatal overgrowth

Respiratory Airways:
asthma, mild persistent (rare)

Skeletal Limbs:
knee contractures, mild (uncommon)

Head And Neck Head:
macrocephaly

Head And Neck Face:
round face
prominent supraorbital ridges (in some patients)
increased bifrontal diameter
horizontal chin crease (in some patients)

Neurologic Central Nervous System:
hypotonia
developmental delay
polymicrogyria (rare)
agenesis of the corpus callosum (in some patients)
intellectual disability, mild to profound
more
Skeletal:
advanced bone age
hypermobile joints (uncommon)

Growth Weight:
increased birth weight
increased weight

Abdomen External Features:
umbilical hernia (in some patients)

Skin Nails Hair Hair:
hypertrichosis (uncommon)

Head And Neck Nose:
low broad nasal bridge

Respiratory Lung:
frequent respiratory infections (uncommon)

Skin Nails Hair Skin:
pigmented nevi (uncommon)

Clinical features from OMIM:

618786

Drugs & Therapeutics for Imagawa-Matsumoto Syndrome

Search Clinical Trials , NIH Clinical Center for Imagawa-Matsumoto Syndrome

Genetic Tests for Imagawa-Matsumoto Syndrome

Genetic tests related to Imagawa-Matsumoto Syndrome:

# Genetic test Affiliating Genes
1 Imagawa-Matsumoto Syndrome 29 SUZ12

Anatomical Context for Imagawa-Matsumoto Syndrome

MalaCards organs/tissues related to Imagawa-Matsumoto Syndrome:

40
Brain, Bone

Publications for Imagawa-Matsumoto Syndrome

Articles related to Imagawa-Matsumoto Syndrome:

# Title Authors PMID Year
1
Rare SUZ12 variants commonly cause an overgrowth phenotype. 56 6
31736240 2019
2
Novel SUZ12 mutations in Weaver-like syndrome. 6 56
30019515 2018
3
Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome. 6 56
28229514 2017

Variations for Imagawa-Matsumoto Syndrome

ClinVar genetic disease variations for Imagawa-Matsumoto Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 SUZ12 NM_015355.4(SUZ12):c.1829A>T (p.Glu610Val)SNV Pathogenic 430647 rs1131692177 17:30323851-30323851 17:31996832-31996832
2 SUZ12 NM_015355.4(SUZ12):c.844_845del (p.Ala282fs)deletion Pathogenic 812716 17:30303560-30303561 17:31976541-31976542
3 SUZ12 NM_015355.4(SUZ12):c.1807T>C (p.Phe603Leu)SNV Pathogenic 812717 17:30323829-30323829 17:31996810-31996810
4 SUZ12 NM_015355.4(SUZ12):c.1960C>T (p.Arg654Ter)SNV Pathogenic 812718 17:30325762-30325762 17:31998743-31998743
5 SUZ12 NM_015355.4(SUZ12):c.1797A>C (p.Gln599His)SNV Uncertain significance 590939 rs1567840381 17:30323819-30323819 17:31996800-31996800

Expression for Imagawa-Matsumoto Syndrome

Search GEO for disease gene expression data for Imagawa-Matsumoto Syndrome.

Pathways for Imagawa-Matsumoto Syndrome

GO Terms for Imagawa-Matsumoto Syndrome

Sources for Imagawa-Matsumoto 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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