MKMS
MCID: MLL023
MIFTS: 28

Mullegama-Klein-Martinez Syndrome (MKMS)

Categories: Genetic diseases, Neuronal diseases

Aliases & Classifications for Mullegama-Klein-Martinez Syndrome

MalaCards integrated aliases for Mullegama-Klein-Martinez Syndrome:

Name: Mullegama-Klein-Martinez Syndrome 56 29 6
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities 56 73
Nedxcf 56 73
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities; Nedxcf 56
Mkms 56

Characteristics:

OMIM:

56
Miscellaneous:
variable phenotype
manifestations may differ between female and male patients

Inheritance:
x-linked


HPO:

31
mullegama-klein-martinez syndrome:
Inheritance x-linked inheritance


Classifications:



Summaries for Mullegama-Klein-Martinez Syndrome

OMIM : 56 Mullegmama-Klein-Martinez syndrome (MKMS) is an X-linked disorder characterized by global developmental delay with impaired intellectual development and poor speech. Ear abnormalities and hearing loss are common, as are dysmorphic facial features such as microcephaly and cleft palate. Other features may include short stature, scoliosis, vertebral abnormalities, and mild limb abnormalities such as fifth finger clinodactyly. Clinical manifestations depend on the type of mutation: female carriers with missense mutations may be unaffected, and conversely, males with nonsense or truncating mutations may have a severe phenotype with early death (summary by Aoi et al., 2019). (301022)

MalaCards based summary : Mullegama-Klein-Martinez Syndrome, also known as neurodevelopmental disorder, x-linked, with craniofacial abnormalities, is related to ocular motor apraxia and pituitary adenoma. An important gene associated with Mullegama-Klein-Martinez Syndrome is STAG2 (Stromal Antigen 2). Affiliated tissues include heart, eye and bone, and related phenotypes are attention deficit hyperactivity disorder and coarctation of aorta

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities: A X-linked neurodevelopmental disorder with variable features including intellectual deficiency, microcephaly, microtia, hearing loss, developmental delay, dysmorphic features, language delay, congenital heart defect, and clinodactyly of the 5th finger.

Related Diseases for Mullegama-Klein-Martinez Syndrome

Diseases related to Mullegama-Klein-Martinez Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 ocular motor apraxia 10.2
2 pituitary adenoma 10.2
3 craniopharyngioma 10.2
4 adenoma 10.2
5 48,xyyy 10.2

Graphical network of the top 20 diseases related to Mullegama-Klein-Martinez Syndrome:



Diseases related to Mullegama-Klein-Martinez Syndrome

Symptoms & Phenotypes for Mullegama-Klein-Martinez Syndrome

Human phenotypes related to Mullegama-Klein-Martinez Syndrome:

31 (show all 41)
# Description HPO Frequency HPO Source Accession
1 attention deficit hyperactivity disorder 31 very rare (1%) HP:0007018
2 coarctation of aorta 31 very rare (1%) HP:0001680
3 hypoplastic left heart 31 very rare (1%) HP:0004383
4 abnormal cardiac septum morphology 31 very rare (1%) HP:0001671
5 congenital diaphragmatic hernia 31 very rare (1%) HP:0000776
6 low-set ears 31 HP:0000369
7 frontal bossing 31 HP:0002007
8 failure to thrive 31 HP:0001508
9 scoliosis 31 HP:0002650
10 global developmental delay 31 HP:0001263
11 depressed nasal bridge 31 HP:0005280
12 wide nasal bridge 31 HP:0000431
13 delayed speech and language development 31 HP:0000750
14 pes planus 31 HP:0001763
15 microtia 31 HP:0008551
16 short stature 31 HP:0004322
17 micrognathia 31 HP:0000347
18 microcephaly 31 HP:0000252
19 smooth philtrum 31 HP:0000319
20 sensorineural hearing impairment 31 HP:0000407
21 sloping forehead 31 HP:0000340
22 full cheeks 31 HP:0000293
23 cleft palate 31 HP:0000175
24 long philtrum 31 HP:0000343
25 short philtrum 31 HP:0000322
26 generalized hypotonia 31 HP:0001290
27 clinodactyly of the 5th finger 31 HP:0004209
28 thin upper lip vermilion 31 HP:0000219
29 proptosis 31 HP:0000520
30 preauricular pit 31 HP:0004467
31 preauricular skin tag 31 HP:0000384
32 bulbous nose 31 HP:0000414
33 low anterior hairline 31 HP:0000294
34 high anterior hairline 31 HP:0009890
35 curly eyelashes 31 HP:0007665
36 triangular face 31 HP:0000325
37 prominent nose 31 HP:0000448
38 cleft lip 31 HP:0410030
39 unsteady gait 31 HP:0002317
40 polydactyly 31 HP:0010442
41 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Ears:
low-set ears
microtia
preauricular pit
dysmorphic ears
preauricular tag
more
Growth Other:
failure to thrive
poor overall growth

Neurologic Central Nervous System:
global developmental delay
unsteady gait
delayed walking
impaired intellectual development
speech and language delay
more
Skeletal Feet:
pes planus
polydactyly

Head And Neck Face:
micrognathia
smooth philtrum
full cheeks
long philtrum
short philtrum
more
Skin Nails Hair Hair:
low anterior hairline
high anterior hairline
frontal baldness (in males)

Skeletal Hands:
fifth finger clinodactyly

Chest Diaphragm:
diaphragmatic hernia (in some patients)

Neurologic Behavioral Psychiatric Manifestations:
attention deficit-hyperactivity disorder (in some patients)

Head And Neck Head:
frontal bossing
microcephaly
sloping forehead

Skeletal Spine:
scoliosis
vertebral body abnormalities

Head And Neck Nose:
depressed nasal bridge
broad nasal bridge
bulbous nasal tip
large nose

Growth Height:
short stature

Head And Neck Mouth:
cleft palate
cleft lip
thin upper lip

Muscle Soft Tissue:
hypotonia

Head And Neck Eyes:
long curly eyelashes
prominent eyes
small eyes

Cardiovascular Heart:
septal defects (in some patients)
hypoplastic left heart (in some patients)
coarctation of the aorta (in some patients)

Clinical features from OMIM:

301022

Drugs & Therapeutics for Mullegama-Klein-Martinez Syndrome

Search Clinical Trials , NIH Clinical Center for Mullegama-Klein-Martinez Syndrome

Genetic Tests for Mullegama-Klein-Martinez Syndrome

Genetic tests related to Mullegama-Klein-Martinez Syndrome:

# Genetic test Affiliating Genes
1 Mullegama-Klein-Martinez Syndrome 29 STAG2

Anatomical Context for Mullegama-Klein-Martinez Syndrome

MalaCards organs/tissues related to Mullegama-Klein-Martinez Syndrome:

40
Heart, Eye, Bone, Skin

Publications for Mullegama-Klein-Martinez Syndrome

Articles related to Mullegama-Klein-Martinez Syndrome:

# Title Authors PMID Year
1
Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. 6 56
30765867 2019
2
Clinical exome sequencing reveals locus heterogeneity and phenotypic variability of cohesinopathies. 56 6
30158690 2019
3
Mutations in STAG2 cause an X-linked cohesinopathy associated with undergrowth, developmental delay, and dysmorphia: Expanding the phenotype in males. 6 56
30447054 2019
4
De novo loss-of-function variants in STAG2 are associated with developmental delay, microcephaly, and congenital anomalies. 6 56
28296084 2017
5
Familial STAG2 germline mutation defines a new human cohesinopathy. 56 6
29263825 2017

Variations for Mullegama-Klein-Martinez Syndrome

ClinVar genetic disease variations for Mullegama-Klein-Martinez Syndrome:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 STAG2 NM_001042749.2(STAG2):c.205C>T (p.Arg69Ter)SNV Pathogenic 623239 rs1569507848 X:123164892-123164892 X:124031042-124031042
2 STAG2 NM_001042749.2(STAG2):c.980G>A (p.Ser327Asn)SNV Pathogenic 623240 rs1569512722 X:123184122-123184122 X:124050272-124050272
3 STAG2 NM_001042749.2(STAG2):c.3027A>T (p.Lys1009Asn)SNV Pathogenic 623241 rs1374370833 X:123217373-123217373 X:124083523-124083523
4 STAG2 NM_001042749.2(STAG2):c.2229G>A (p.Trp743Ter)SNV Pathogenic 623245 rs1569516580 X:123200250-123200250 X:124066400-124066400
5 STAG2 NM_001042749.2(STAG2):c.3097C>T (p.Arg1033Ter)SNV Pathogenic 623246 rs1569520709 X:123220440-123220440 X:124086590-124086590
6 STAG2 NM_001042749.2(STAG2):c.476A>G (p.Tyr159Cys)SNV Likely pathogenic 523193 rs1569511477 X:123179027-123179027 X:124045177-124045177
7 STAG2 NM_001042749.2(STAG2):c.1605T>A (p.Cys535Ter)SNV Likely pathogenic 523190 rs1569515507 X:123195691-123195691 X:124061841-124061841
8 STAG2 NM_001042749.2(STAG2):c.1811G>A (p.Arg604Gln)SNV Uncertain significance 523191 rs1569515797 X:123197045-123197045 X:124063195-124063195

UniProtKB/Swiss-Prot genetic disease variations for Mullegama-Klein-Martinez Syndrome:

73
# Symbol AA change Variation ID SNP ID
1 STAG2 p.Tyr159Cys VAR_082295
2 STAG2 p.Ser327Asn VAR_082296
3 STAG2 p.Lys1009Asn VAR_082300

Expression for Mullegama-Klein-Martinez Syndrome

Search GEO for disease gene expression data for Mullegama-Klein-Martinez Syndrome.

Pathways for Mullegama-Klein-Martinez Syndrome

GO Terms for Mullegama-Klein-Martinez Syndrome

Sources for Mullegama-Klein-Martinez 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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