MKMS
MCID: MLL023
MIFTS: 30

Mullegama-Klein-Martinez Syndrome (MKMS)

Categories: Ear diseases, Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Mullegama-Klein-Martinez Syndrome

MalaCards integrated aliases for Mullegama-Klein-Martinez Syndrome:

Name: Mullegama-Klein-Martinez Syndrome 56 12 29 6
Nedxcf 56 12 73
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities 56 73
Mkms 56 12
Neurodevelopmental Disorder, X-Linked, with Craniofacial Abnormalities; Nedxcf 56
X-Linked Neurodevelopmental Disorder with Craniofacial Abnormalities 12

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, which suggest midline defects. Other features may include short stature, scoliosis, vertebral abnormalities, and mild limb abnormalities such as fifth finger clinodactyly. Clinical manifestations and penetrance may depend on the type of mutation and X-inactivation patterns (summary by Aoi et al., 2019). (301022)

MalaCards based summary : Mullegama-Klein-Martinez Syndrome, also known as nedxcf, 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

Disease Ontology : 12 A syndromic X-linked intellectual disability characterized by global developmental delay with impaired intellectual development and poor speech and commonly associated with ear abnormalities, hearing loss, and dysmorphic facial features that has material basis in heterozygous or hemizygous mutation in STAG2 on chromosome Xq25.

UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder, X-linked, with craniofacial abnormalities: An 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 global developmental delay 31 HP:0001263
7 depressed nasal bridge 31 HP:0005280
8 scoliosis 31 HP:0002650
9 wide nasal bridge 31 HP:0000431
10 delayed speech and language development 31 HP:0000750
11 pes planus 31 HP:0001763
12 microtia 31 HP:0008551
13 microcephaly 31 HP:0000252
14 smooth philtrum 31 HP:0000319
15 sensorineural hearing impairment 31 HP:0000407
16 short stature 31 HP:0004322
17 failure to thrive 31 HP:0001508
18 full cheeks 31 HP:0000293
19 frontal bossing 31 HP:0002007
20 cleft palate 31 HP:0000175
21 micrognathia 31 HP:0000347
22 low-set ears 31 HP:0000369
23 clinodactyly of the 5th finger 31 HP:0004209
24 preauricular skin tag 31 HP:0000384
25 thin upper lip vermilion 31 HP:0000219
26 long philtrum 31 HP:0000343
27 proptosis 31 HP:0000520
28 low anterior hairline 31 HP:0000294
29 short philtrum 31 HP:0000322
30 bulbous nose 31 HP:0000414
31 high anterior hairline 31 HP:0009890
32 triangular face 31 HP:0000325
33 preauricular pit 31 HP:0004467
34 curly eyelashes 31 HP:0007665
35 sloping forehead 31 HP:0000340
36 prominent nose 31 HP:0000448
37 generalized hypotonia 31 HP:0001290
38 unsteady gait 31 HP:0002317
39 polydactyly 31 HP:0010442
40 cleft lip 31 HP:0410030
41 delayed ability to walk 31 HP:0031936

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
unsteady gait
delayed walking
impaired intellectual development
speech and language delay
more
Skeletal Spine:
scoliosis
vertebral body abnormalities

Head And Neck Ears:
microtia
low-set ears
preauricular pit
dysmorphic ears
preauricular tag
more
Head And Neck Face:
smooth philtrum
full cheeks
micrognathia
long philtrum
short philtrum
more
Growth Other:
failure to thrive
poor overall growth

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 Nose:
depressed nasal bridge
broad nasal bridge
bulbous nasal tip
large nose

Skeletal Feet:
pes planus
polydactyly

Head And Neck Head:
microcephaly
frontal bossing
sloping forehead

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

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. 6 56
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. 56 6
28296084 2017
5
Familial STAG2 germline mutation defines a new human cohesinopathy. 56 6
29263825 2017
6
Cohesin complex-associated holoprosencephaly. 6
31334757 2019

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_001042750.2(STAG2):c.205C>T (p.Arg69Ter)SNV Pathogenic 623239 rs1569507848 X:123164892-123164892 X:124031042-124031042
2 STAG2 NM_001042750.2(STAG2):c.980G>A (p.Ser327Asn)SNV Pathogenic 623240 rs1569512722 X:123184122-123184122 X:124050272-124050272
3 STAG2 NM_001042750.2(STAG2):c.3027A>T (p.Lys1009Asn)SNV Pathogenic 623241 rs1374370833 X:123217373-123217373 X:124083523-124083523
4 STAG2 NM_001042750.2(STAG2):c.2229G>A (p.Trp743Ter)SNV Pathogenic 623245 rs1569516580 X:123200250-123200250 X:124066400-124066400
5 STAG2 NM_001042750.2(STAG2):c.352dup (p.Ile118fs)duplication Pathogenic 807501 X:123171439-123171440 X:124037589-124037590
6 STAG2 NM_001042750.2(STAG2):c.2860C>T (p.Arg954Cys)SNV Likely pathogenic 807502 X:123215314-123215314 X:124081464-124081464
7 STAG2 NM_001042750.2(STAG2):c.476A>G (p.Tyr159Cys)SNV Likely pathogenic 523193 rs1569511477 X:123179027-123179027 X:124045177-124045177
8 STAG2 NM_001042750.2(STAG2):c.1605T>A (p.Cys535Ter)SNV Likely pathogenic 523190 rs1569515507 X:123195691-123195691 X:124061841-124061841
9 STAG2 NM_001042750.2(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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