MRXSHF1
MCID: MNT061
MIFTS: 57

Mental Retardation-Hypotonic Facies Syndrome, X-Linked (MRXSHF1) malady

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Eye diseases, Fetal diseases, Ear diseases, Mental diseases

Aliases & Classifications for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Aliases & Descriptions for Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked 54 24 13
Coloboma 12 24 25 29 52 42 14
Juberg-Marsidi Syndrome 50 24 56 66 52 69
Carpenter-Waziri Syndrome 50 24 56 66
Holmes-Gang Syndrome 50 24 56 66
Congenital Ocular Coloboma 12 25 29
Chudley-Lowry Syndrome 24 56 66
Coloboma of Macula 12 50 56
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 50 24
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 50 29
Microphthalmia, Isolated, with Coloboma 25 29
Smith-Fineman-Myers Syndrome 1 24 66
Hereditary Macular Coloboma 50 69
Sfm1 50 66
Jms 50 66
Mental Retardation X-Linked with Growth Retardation Deafness and Microgenitalism 66
Mental Retradation, X-Linked with Growth Delay, Deafness, Microgenitalism 50
Mental Retardation, X-Linked, Syndromic, with Hypotonic Facies 1 66
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 54
X-Linked Hypogonadism Gynecomastia Mental Retardation 50
Mental Retardation Smith Fineman Myers Type 69
Juberg-Marsidi Mental Retardation Syndrome 50
Chudley Mental Retardation Syndrome 50
Renier-Gabreels-Jasper Syndrome 56
Smith Fineman Myers Syndrome 1 50
Xlmr-Hypotonic Facies Syndrome 66
Smith-Fineman-Myers Syndrome 56
Chudley Lowry Hoar Syndrome 50
Chudley-Lowry-Hoar Syndrome 56
Juberg Marsidi Syndrome 50
Uveoretinal Coloboma 25
Agenesis of Macula 50
Chudley Syndrome 1 50
Macular Coloboma 50
Coloboma of Eye 12
Ocular Coloboma 25
Mrxshf1 66
Mrxhf1 50
Sfms 66
Cws 66

Characteristics:

Orphanet epidemiological data:

56
renier-gabreels-jasper syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
smith-fineman-myers syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
chudley-lowry-hoar syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
holmes-gang syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
carpenter-waziri syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
juberg-marsidi syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

HPO:

32
mental retardation-hypotonic facies syndrome, x-linked:
Inheritance autosomal dominant inheritance x-linked recessive inheritance
Onset and clinical course phenotypic variability


Classifications:



External Ids:

OMIM 54 309580
Disease Ontology 12 DOID:12270
ICD10 33 Q13.0
NCIt 47 C98877
SNOMED-CT 64 92828000 93390002
ICD10 via Orphanet 34 Q87.0 Q14.8
MESH via Orphanet 43 C537457
UMLS via Orphanet 70 C0796003
MedGen 40 C0796003
UMLS 69 C0009363

Summaries for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

OMIM : 54 The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported... (309580) more...

MalaCards based summary : Mental Retardation-Hypotonic Facies Syndrome, X-Linked, also known as coloboma, is related to renier gabreels jasper syndrome and coloboma of optic nerve, and has symptoms including constipation, seizures and vomiting. An important gene associated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked is ATRX (ATRX, Chromatin Remodeler), and among its related pathways/superpathways are Mesodermal Commitment Pathway and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Ophthalmic Solutions and Pharmaceutical Solutions have been mentioned in the context of this disorder. Affiliated tissues include eye, retina and brain, and related phenotypes are cellular and cardiovascular system

Disease Ontology : 12 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

Genetics Home Reference : 25 Coloboma is an eye abnormality that occurs before birth. Colobomas are missing pieces of tissue in structures that form the eye. They may appear as notches or gaps in one of several parts of the eye, including the colored part of the eye called the iris; the retina, which is the specialized light-sensitive tissue that lines the back of the eye; the blood vessel layer under the retina called the choroid; or the optic nerves, which carry information from the eyes to the brain.

UniProtKB/Swiss-Prot : 66 Mental retardation, X-linked, syndromic, with hypotonic facies 1: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.

Related Diseases for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 257)
id Related Disease Score Top Affiliating Genes
1 renier gabreels jasper syndrome 12.4
2 coloboma of optic nerve 12.3
3 coloboma, ocular 12.2
4 retinochoroidal coloboma 12.1
5 coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation 12.1
6 corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia 12.1
7 microphthalmia with coloboma 5 12.0
8 microphthalmia with coloboma 6, digenic 12.0
9 retinal dystrophy, iris coloboma, and comedogenic acne syndrome 12.0
10 coloboma, ocular, autosomal recessive 12.0
11 microphthalmia, isolated, with coloboma 7 12.0
12 microphthalmia, isolated, with coloboma 9 12.0
13 papillorenal syndrome 12.0
14 coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness 12.0
15 microphthalmia with coloboma 3 12.0
16 palpebral coloboma-lipoma syndrome 12.0
17 microphthalmia, isolated, with coloboma 10 12.0
18 coloboma of iris 11.9
19 coloboma of eye lens 11.8
20 hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss 11.8
21 coloboma of eyelid 11.7
22 coloboma, cleft lip/palate and mental retardation syndrome 11.7
23 coloboma of macula with type b brachydactyly 11.7
24 microtia with nasolacrimal duct imperforation and eye coloboma 11.7
25 cerebral-cerebellar-coloboma syndrome, x-linked 11.7
26 temtamy syndrome 11.6
27 coloboma-obesity-hypogenitalism-mental retardation syndrome 11.6
28 coloboma of macula and skeletal anomalies 11.6
29 microcornea posterior megalolenticonus persistent fetal vasculature coloboma 11.6
30 coloboma of optic papilla 11.6
31 coloboma of inferior eyelid 11.6
32 coloboma of superior eyelid 11.6
33 charge syndrome 11.6
34 microphthalmia/anophthalmia/coloboma spectrum 11.6
35 short limb dwarf edema iris coloboma 11.6
36 esophageal atresia coloboma talipes 11.6
37 amelia cleft lip palate hydrocephalus iris coloboma 11.6
38 hypercalcinuria macular coloboma 11.6
39 retinal dystrophy and iris coloboma with or without cataract 11.6
40 coloboma porencephaly hydronephrosis 11.6
41 ptosis coloboma mental retardation 11.6
42 thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness 11.6
43 coach syndrome 11.5
44 chime syndrome 11.5
45 microphthalmia, syndromic 9 11.4
46 kahrizi syndrome 11.3
47 baraitser-winter syndrome 1 11.3
48 oculoauricular syndrome 11.3
49 manitoba oculotrichoanal syndrome 11.3
50 abruzzo-erickson syndrome 11.3

Graphical network of the top 20 diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:



Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Symptoms & Phenotypes for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Symptoms by clinical synopsis from OMIM:

309580

Clinical features from OMIM:

309580

Human phenotypes related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

32 (show top 50) (show all 66)
id Description HPO Frequency HPO Source Accession
1 constipation 32 HP:0002019
2 seizures 32 HP:0001250
3 vomiting 32 HP:0002013
4 malar flattening 32 HP:0000272
5 hypertelorism 32 HP:0000316
6 low-set ears 32 HP:0000369
7 short neck 32 HP:0000470
8 genu valgum 32 HP:0002857
9 high palate 32 HP:0000218
10 ptosis 32 HP:0000508
11 hyperreflexia 32 HP:0001347
12 macroglossia 32 HP:0000158
13 coarse facial features 32 HP:0000280
14 delayed skeletal maturation 32 HP:0002750
15 depressed nasal bridge 32 HP:0005280
16 wide nasal bridge 32 HP:0000431
17 pes planus 32 HP:0001763
18 microtia 32 HP:0008551
19 microcephaly 32 HP:0000252
20 sensorineural hearing impairment 32 HP:0000407
21 anteverted nares 32 HP:0000463
22 optic atrophy 32 HP:0000648
23 short stature 32 HP:0004322
24 gastroesophageal reflux 32 HP:0002020
25 intellectual disability, severe 32 HP:0010864
26 micrognathia 32 HP:0000347
27 thick lower lip vermilion 32 HP:0000179
28 epicanthus 32 HP:0000286
29 dolichocephaly 32 HP:0000268
30 cryptorchidism 32 HP:0000028
31 hypogonadism 32 HP:0000135
32 intellectual disability, progressive 32 HP:0006887
33 wide mouth 32 HP:0000154
34 hypospadias 32 HP:0000047
35 decreased testicular size 32 HP:0008734
36 open mouth 32 HP:0000194
37 upslanted palpebral fissure 32 HP:0000582
38 brachydactyly syndrome 32 HP:0001156
39 protruding tongue 32 HP:0010808
40 vesicoureteral reflux 32 HP:0000076
41 renal hypoplasia 32 HP:0000089
42 talipes equinovarus 32 HP:0001762
43 thin upper lip vermilion 32 HP:0000219
44 midface retrusion 32 HP:0011800
45 tented upper lip vermilion 32 HP:0010804
46 abnormality of blood and blood-forming tissues 32 HP:0001871
47 tapered finger 32 HP:0001182
48 scrotal hypoplasia 32 HP:0000046
49 micropenis 32 HP:0000054
50 hyperactivity 32 HP:0000752

UMLS symptoms related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:


constipation, vomiting

MGI Mouse Phenotypes related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

44 (show all 12)
id Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.31 ABCB6 ATRX CHD7 GDF3 HOXA2 OTX2
2 cardiovascular system MP:0005385 10.29 CHD7 FZD5 HOXA2 MAB21L2 OTX2 PAX2
3 embryo MP:0005380 10.25 CHD7 FZD5 GDF3 HOXA2 OTX2 PAX2
4 growth/size/body region MP:0005378 10.24 ATRX CHD7 FZD5 GDF3 GDF6 HOXA2
5 mortality/aging MP:0010768 10.23 ABCB6 ATRX CHD7 FZD5 GDF3 GDF6
6 digestive/alimentary MP:0005381 10.11 PAX6 TMEM67 VAX1 VAX2 YAP1 CHD7
7 nervous system MP:0003631 10.09 FZD5 GDF6 HOXA2 MFRP OTX2 PAX2
8 craniofacial MP:0005382 10.08 CHD7 GDF6 HOXA2 OTX2 PAX6 TMEM67
9 endocrine/exocrine gland MP:0005379 10.01 PAX2 PAX6 SNAP25 VSX2 YAP1 CHD7
10 hearing/vestibular/ear MP:0005377 9.87 CHD7 GDF6 HOXA2 OTX2 PAX2 PAX6
11 vision/eye MP:0005391 9.44 ATRX CHD7 FZD5 GDF6 MAB21L2 MFRP
12 pigmentation MP:0001186 9.43 MAB21L2 MFRP OTX2 PAX2 PAX6 VSX2

Drugs & Therapeutics for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Drugs for Mental Retardation-Hypotonic Facies Syndrome, X-Linked (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


id Name Status Phase Clinical Trials Cas Number PubChem Id
1 Ophthalmic Solutions Phase 1
2 Pharmaceutical Solutions Phase 1

Interventional clinical trials:


id Name Status NCT ID Phase
1 Spectral Domain Optical Coherence Tomography Imaging of the Eyes of Neonates Completed NCT01404247 Phase 1
2 Quality of Life in Children Glaucoma and Cataract Completed NCT02490267
3 Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye Diseases Completed NCT00076271
4 Genetics of Uveal Coloboma Recruiting NCT01778543
5 A More Engaging Visual Field Test to Increase Use and Reliability in Pediatrics Recruiting NCT02157025
6 Stentless Endoscopic Transnasal Transseptal Choanoplasty Recruiting NCT03167463
7 Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye Conditions Recruiting NCT02077894
8 Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK) Recruiting NCT02224677
9 Family Studies of Uveal Coloboma Terminated NCT00368004

Search NIH Clinical Center for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Cochrane evidence based reviews: coloboma

Genetic Tests for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Genetic tests related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

id Genetic test Affiliating Genes
1 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 29
2 Congenital Ocular Coloboma 29
3 Coloboma 29 24
4 Microphthalmia, Isolated, with Coloboma 29
5 Mental Retardation-Hypotonic Facies Syndrome, X-Linked 24 ATRX

Anatomical Context for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

MalaCards organs/tissues related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

39
Eye, Retina, Brain, Tongue

Publications for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

66
id Symbol AA change Variation ID SNP ID
1 ATRX p.Arg2131Gln VAR_001240
2 ATRX p.Ile2050Thr VAR_012127
3 ATRX p.Cys220Tyr VAR_032625
4 ATRX p.Leu409Ser VAR_032626
5 ATRX p.Arg2271Gly VAR_032627

ClinVar genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

6 (show all 13)
id Gene Variation Type Significance SNP ID Assembly Location
1 PAX6 NM_000280.4(PAX6): c.773T> C (p.Phe258Ser) single nucleotide variant Pathogenic rs121907925 GRCh37 Chromosome 11, 31815343: 31815343
2 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh37 Chromosome X, 76814252: 76814252
3 ATRX NM_000489.4(ATRX): c.5131C> T (p.Pro1711Ser) single nucleotide variant Pathogenic rs122445102 GRCh37 Chromosome X, 76888698: 76888698
4 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Pathogenic/Likely pathogenic rs122445103 GRCh37 Chromosome X, 76944337: 76944337
5 ATRX ATRX, IVS34, A-G, -2 single nucleotide variant Pathogenic
6 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
7 ATRX NM_000489.4(ATRX): c.1226T> C (p.Leu409Ser) single nucleotide variant Pathogenic rs122445109 GRCh37 Chromosome X, 76939522: 76939522
8 ATRX NM_000489.4(ATRX): c.6149T> C (p.Ile2050Thr) single nucleotide variant Pathogenic/Likely pathogenic rs122445110 GRCh37 Chromosome X, 76845372: 76845372
9 ATRX NM_000489.4(ATRX): c.659G> A (p.Cys220Tyr) single nucleotide variant Pathogenic rs122445111 GRCh37 Chromosome X, 76940434: 76940434
10 ATRX NM_000489.4(ATRX): c.6811A> G (p.Arg2271Gly) single nucleotide variant Pathogenic rs122445112 GRCh37 Chromosome X, 76778768: 76778768
11 GDF3 NM_020634.2(GDF3): c.914T> C (p.Leu305Pro) single nucleotide variant Pathogenic rs387906945 GRCh37 Chromosome 12, 7842655: 7842655
12 YAP1 NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter) single nucleotide variant Pathogenic rs587777249 GRCh38 Chromosome 11, 102114192: 102114192
13 FIBP NM_198897.1(FIBP): c.673C> T (p.Gln225Ter) single nucleotide variant Pathogenic/Likely pathogenic rs786204849 GRCh38 Chromosome 11, 65885181: 65885181

Copy number variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked from CNVD:

7
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
1 80271 13 88800000 93800000 Deletion coloboma

Expression for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Search GEO for disease gene expression data for Mental Retardation-Hypotonic Facies Syndrome, X-Linked.

Pathways for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Pathways related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked according to GeneCards Suite gene sharing:

id Super pathways Score Top Affiliating Genes
1
Show member pathways
11.5 FZD5 GDF3 OTX2 PAX6 YAP1
2 11.26 OTX2 PAX2 PAX6

GO Terms for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

Biological processes related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked according to GeneCards Suite gene sharing:

(show all 22)
id Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription, DNA-templated GO:0045893 9.98 GDF6 OTX2 PAX2 PAX6 YAP1
2 visual perception GO:0007601 9.8 MFRP PAX2 PAX6 VAX2 VSX2
3 central nervous system development GO:0007417 9.77 CHD7 PAX6 VAX1
4 axonogenesis GO:0007409 9.77 PAX2 PAX6 VAX2
5 cellular response to retinoic acid GO:0071300 9.71 HOXA2 PAX2 YAP1
6 multicellular organism development GO:0007275 9.7 FZD5 GDF3 GDF6 HOXA2 MAB21L2 OTX2
7 regulation of neurogenesis GO:0050767 9.65 CHD7 PAX6 YAP1
8 forebrain development GO:0030900 9.62 ATRX OTX2 PAX6 VAX2
9 regulation of canonical Wnt signaling pathway GO:0060828 9.61 FZD5 YAP1
10 eye photoreceptor cell development GO:0042462 9.58 MFRP PAX6
11 embryonic camera-type eye morphogenesis GO:0048596 9.57 FZD5 PAX6
12 primitive streak formation GO:0090009 9.56 GDF3 OTX2
13 retina development in camera-type eye GO:0060041 9.56 CHD7 MFRP PAX6 VAX2
14 notochord development GO:0030903 9.55 GDF3 YAP1
15 cell fate determination GO:0001709 9.54 HOXA2 PAX2 PAX6
16 dorsal/ventral axis specification GO:0009950 9.52 PAX6 VAX2
17 regulation of metanephric nephron tubule epithelial cell differentiation GO:0072307 9.51 PAX2 YAP1
18 eye development GO:0001654 9.46 GDF3 MAB21L2 PAX6 SALL2
19 camera-type eye development GO:0043010 9.1 CHD7 MAB21L2 PAX2 PAX6 VAX1 VAX2
20 regulation of transcription, DNA-templated GO:0006355 10.2 ATRX CHD7 HOXA2 OTX2 PAX2 PAX6
21 transcription, DNA-templated GO:0006351 10.19 ATRX CHD7 HOXA2 PAX2 PAX6 SALL2
22 positive regulation of transcription from RNA polymerase II promoter GO:0045944 10.03 ATRX CHD7 FZD5 HOXA2 OTX2 PAX2

Molecular functions related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked according to GeneCards Suite gene sharing:

id Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 9.91 ATRX CHD7 HOXA2 OTX2 PAX2 PAX6
2 transcription factor activity, sequence-specific DNA binding GO:0003700 9.85 HOXA2 OTX2 PAX6 SALL2 VAX1 VAX2
3 RNA polymerase II core promoter proximal region sequence-specific DNA binding GO:0000978 9.71 CHD7 HOXA2 OTX2 PAX6
4 transcription regulatory region DNA binding GO:0044212 9.62 PAX2 PAX6 SALL2 YAP1
5 sequence-specific DNA binding GO:0043565 9.17 HOXA2 OTX2 PAX6 SALL2 VAX1 VAX2
6 RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding GO:0001162 9.16 VAX1 VAX2
7 transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific binding GO:0001227 9.13 PAX6 VAX1 VAX2

Sources for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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