MCID: MNT061
MIFTS: 56

Mental Retardation-Hypotonic Facies Syndrome, X-Linked 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

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Sources:
50OMIM, 23GeneTests, 12diseasecard, 11Disease Ontology, 24Genetics Home Reference, 13DISEASES, 25GTR, 48Novoseek, 37MeSH, 46NIH Rare Diseases, 52Orphanet, 66UMLS, 68UniProtKB/Swiss-Prot, 28ICD10, 43NCIt, 29ICD10 via Orphanet, 38MESH via Orphanet, 67UMLS via Orphanet, 35MedGen, 60SNOMED-CT, 62The Human Phenotype Ontology
See all MalaCards sources

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

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked 50 23 12
Coloboma 11 23 24 13 25 48 37
Juberg-Marsidi Syndrome 46 23 52 68 48 66
Carpenter-Waziri Syndrome 46 23 52 68
Holmes-Gang Syndrome 46 23 52 68
Congenital Ocular Coloboma 11 24 25
Chudley-Lowry Syndrome 23 52 68
Coloboma of Macula 11 46 52
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 46 23
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 46 25
Microphthalmia, Isolated, with Coloboma 24 25
Smith-Fineman-Myers Syndrome 1 23 68
Hereditary Macular Coloboma 46 66
Sfm1 46 68
Jms 46 68
Mental Retardation X-Linked with Growth Retardation Deafness and Microgenitalism 68
Mental Retradation, X-Linked with Growth Delay, Deafness, Microgenitalism 46
Mental Retardation, X-Linked, Syndromic, with Hypotonic Facies 1 68
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 50
X-Linked Hypogonadism Gynecomastia Mental Retardation 46
 
Juberg-Marsidi Mental Retardation Syndrome 46
Chudley Mental Retardation Syndrome 46
Renier-Gabreels-Jasper Syndrome 52
Xlmr-Hypotonic Facies Syndrome 68
Smith Fineman Myers Syndrome 1 46
Smith-Fineman-Myers Syndrome 52
Chudley Lowry Hoar Syndrome 46
Chudley-Lowry-Hoar Syndrome 52
Juberg Marsidi Syndrome 46
Uveoretinal Coloboma 24
Agenesis of Macula 46
Chudley Syndrome 1 46
Macular Coloboma 46
Ocular Coloboma 24
Coloboma of Eye 11
Mrxshf1 68
Mrxhf1 46
Sfms 68
Cws 68

Characteristics:

Orphanet epidemiological data:

52
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 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:

62
Inheritance: autosomal dominant inheritance
mental retardation-hypotonic facies syndrome, x-linked:
Inheritance: x-linked recessive inheritance
Onset and clinical course: phenotypic variability


Classifications:



External Ids:

OMIM50 309580
Disease Ontology11 DOID:12270
ICD1028 Q13.0
NCIt43 C98877
SNOMED-CT60 92828000, 93390002
ICD10 via Orphanet29 Q87.0, Q14.8
MESH via Orphanet38 C537457
UMLS via Orphanet67 C0796003
MedGen35 C0796003

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

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OMIM:50 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 coloboma of optic nerve and microphthalmia with coloboma 6, digenic, and has symptoms including abnormality of the palate, microcephaly and narrow forehead. An important gene associated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked is ATRX (ATRX, Chromatin Remodeler), and among its related pathways are Neural Stem Cell Differentiation Pathways and Lineage-specific Markers and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. Affiliated tissues include eye, retina and brain, and related mouse phenotypes are pigmentation and respiratory system.

Disease Ontology:11 An eye disease characterized by missing pieces of tissue in structures that form the eye, such as the iris, retina, choroid or optic disc.

UniProtKB/Swiss-Prot:68 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.

Genetics Home Reference:24 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.

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

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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 251)
idRelated DiseaseScoreTop Affiliating Genes
1coloboma of optic nerve34.2GDF3, PAX6
2microphthalmia with coloboma 6, digenic33.9GDF3, GDF6
3coloboma of eyelid32.3GDF3, GDF6, MAB21L2, SHH, VSX2
4graham-cox syndrome31.8VAX1, VAX2
5megacolon30.0OTX2, PAX2, PAX6
6renier gabreels jasper syndrome12.5
7coloboma, ocular12.2
8retinochoroidal coloboma12.1
9coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation12.1
10coloboma of iris12.1
11corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia12.0
12microphthalmia, isolated, with coloboma 712.0
13microphthalmia with coloboma 512.0
14microphthalmia, isolated, with coloboma 912.0
15retinal dystrophy, iris coloboma, and comedogenic acne syndrome12.0
16palpebral coloboma-lipoma syndrome12.0
17microphthalmia with coloboma 312.0
18coloboma, ocular, autosomal recessive11.9
19coloboma of eye lens11.9
20microphthalmia, isolated, with coloboma 1011.9
21papillorenal syndrome11.9
22hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss11.9
23coloboma, cleft lip/palate and mental retardation syndrome11.8
24microtia with nasolacrimal duct imperforation and eye coloboma11.8
25coloboma of macula with type b brachydactyly11.8
26cerebral-cerebellar-coloboma syndrome, x-linked11.8
27coloboma-obesity-hypogenitalism-mental retardation syndrome11.8
28coloboma of macula and skeletal anomalies11.8
29coloboma of optic papilla11.8
30microcornea posterior megalolenticonus persistent fetal vasculature coloboma11.8
31coloboma of inferior eyelid11.8
32coloboma of superior eyelid11.8
33thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness11.7
34microphthalmia/anophthalmia/coloboma spectrum11.7
35amelia cleft lip palate hydrocephalus iris coloboma11.7
36coloboma porencephaly hydronephrosis11.7
37esophageal atresia coloboma talipes11.7
38hypercalcinuria macular coloboma11.7
39ptosis coloboma mental retardation11.7
40short limb dwarf edema iris coloboma11.7
41temtamy syndrome11.5
42charge syndrome11.4
43coach syndrome11.4
44baraitser-winter syndrome11.4
45chime syndrome11.3
46mental retardation smith fineman myers type11.3
47microphthalmia, syndromic 911.3
48x-linked mental retardation craniofacial abnormal microcephaly club11.3
49baraitser-winter syndrome 111.3
50schimmelpenning-feuerstein-mims syndrome, somatic mosaic11.2

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 for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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Symptoms by clinical synopsis from OMIM:

309580

Clinical features from OMIM:

309580

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

(show all 83)
id Description Frequency HPO Source Accession
1 abnormality of the palate hallmark (90%) HP:0000174
2 microcephaly hallmark (90%) HP:0000252
3 narrow forehead hallmark (90%) HP:0000341
4 anteverted nares hallmark (90%) HP:0000463
5 short stature hallmark (90%) HP:0004322
6 depressed nasal bridge hallmark (90%) HP:0005280
7 tented upper lip vermilion hallmark (90%) HP:0010804
8 cognitive impairment hallmark (90%) HP:0100543
9 behavioral abnormality typical (50%) HP:0000708
10 obesity typical (50%) HP:0001513
11 neurological speech impairment typical (50%) HP:0002167
12 genu valgum typical (50%) HP:0002857
13 seizures 35% HP:0001250
14 cryptorchidism occasional (7.5%) HP:0000028
15 wide mouth occasional (7.5%) HP:0000154
16 low posterior hairline occasional (7.5%) HP:0002162
17 abnormality of the hip bone occasional (7.5%) HP:0003272
18 camptodactyly of finger occasional (7.5%) HP:0100490
19 macular coloboma HP:0001116
20 cryptorchidism HP:0000028
21 scrotal hypoplasia HP:0000046
22 hypospadias HP:0000047
23 micropenis HP:0000054
24 vesicoureteral reflux HP:0000076
25 renal hypoplasia HP:0000089
26 hypogonadism HP:0000135
27 wide mouth HP:0000154
28 macroglossia HP:0000158
29 thick lower lip vermilion HP:0000179
30 short upper lip HP:0000188
31 open mouth HP:0000194
32 high palate HP:0000218
33 thin upper lip vermilion HP:0000219
34 microcephaly HP:0000252
35 dolichocephaly HP:0000268
36 malar flattening HP:0000272
37 coarse facial features HP:0000280
38 epicanthus HP:0000286
39 hypertelorism HP:0000316
40 narrow forehead HP:0000341
41 micrognathia HP:0000347
42 posteriorly rotated ears HP:0000358
43 low-set ears HP:0000369
44 sensorineural hearing impairment HP:0000407
45 wide nasal bridge HP:0000431
46 triangular nasal tip HP:0000451
47 anteverted nares HP:0000463
48 short neck HP:0000470
49 ptosis HP:0000508
50 exotropia HP:0000577
51 upslanted palpebral fissure HP:0000582
52 optic atrophy HP:0000648
53 paroxysmal bursts of laughter HP:0000749
54 hyperactivity HP:0000752
55 brachydactyly syndrome HP:0001156
56 tapered finger HP:0001182
57 slender finger HP:0001238
58 hyperreflexia HP:0001347
59 widely-spaced maxillary central incisors HP:0001566
60 talipes equinovarus HP:0001762
61 pes planus HP:0001763
62 abnormality of blood and blood-forming tissues HP:0001871
63 talipes calcaneovalgus HP:0001884
64 vomiting HP:0002013
65 constipation HP:0002019
66 gastroesophageal reflux HP:0002020
67 drooling HP:0002307
68 delayed skeletal maturation HP:0002750
69 kyphoscoliosis HP:0002751
70 genu valgum HP:0002857
71 short stature HP:0004322
72 depressed nasal bridge HP:0005280
73 intellectual disability, progressive HP:0006887
74 lower limb hypertonia HP:0006895
75 microtia HP:0008551
76 decreased testicular size HP:0008734
77 infantile muscular hypotonia HP:0008947
78 radial deviation of finger HP:0009466
79 tented upper lip vermilion HP:0010804
80 u-shaped upper lip vermilion HP:0010806
81 protruding tongue HP:0010808
82 intellectual disability, severe HP:0010864
83 midface retrusion HP:0011800

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


constipation, drooling, vomiting

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

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Interventional clinical trials:

idNameStatusNCT IDPhase
1Spectral Domain Optical Coherence Tomography Imaging of the Eyes of NeonatesCompletedNCT01404247Phase 1
2Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye DiseasesCompletedNCT00076271
3Quality of Life in Children Glaucoma and CataractCompletedNCT02490267
4Genetics of Uveal ColobomaRecruitingNCT01778543
5A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
6Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
7Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye ConditionsRecruitingNCT02077894
8Family Studies of Uveal ColobomaTerminatedNCT00368004

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

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

id Genetic test Affiliating Genes
1 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 125
2 Congenital Ocular Coloboma25
3 Coloboma25 23
4 Microphthalmia, Isolated, with Coloboma25
5 Mental Retardation-Hypotonic Facies Syndrome, X-Linked23 ATRX

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

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

34
Eye, Retina, Brain, Tongue, Testes, Bone

Animal Models for Mental Retardation-Hypotonic Facies Syndrome, X-Linked or affiliated genes

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

39 (show all 14)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00011869.3MAB21L2, OTX2, PAX2, PAX6, TFAP2A, VSX2
2MP:00053888.5CHD7, FRAS1, HOXA2, OTX2, PAX6, SHH
3MP:00053718.2CHD7, FRAS1, GDF6, SHH, TFAP2A, TMEM67
4MP:00053777.8CECR2, CHD7, GDF6, HOXA2, OTX2, PAX2
5MP:00053817.5CHD7, FRAS1, HOXA2, OTX2, PAX6, SHH
6MP:00053907.5CHD7, FRAS1, GDF6, HOXA2, OTX2, PAX6
7MP:00053826.8CECR2, CHD7, FRAS1, GDF6, HOXA2, OTX2
8MP:00053856.8ATRX, CHD7, FRAS1, HOXA2, MAB21L2, OTX2
9MP:00053806.7ATRX, CECR2, CHD7, GDF3, HOXA2, OTX2
10MP:00053846.7ATRX, CHD7, FRAS1, GDF3, HOXA2, OTX2
11MP:00053916.2ATRX, CECR2, CHD7, CYP1B1, FRAS1, GDF6
12MP:00036315.7ATRX, CECR2, CHD7, GDF6, HOXA2, OTX2
13MP:00053785.2ATRX, CECR2, CHD7, FRAS1, GDF3, GDF6
14MP:00107685.0ATRX, CECR2, CHD7, FRAS1, GDF3, GDF6

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

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

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

68
id Symbol AA change Variation ID SNP ID
1ATRXp.Arg2131GlnVAR_001240
2ATRXp.Ile2050ThrVAR_012127
3ATRXp.Cys220TyrVAR_032625
4ATRXp.Leu409SerVAR_032626
5ATRXp.Arg2271GlyVAR_032627

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

5
id Gene Variation Type Significance SNP ID Assembly Location
1ATRXNM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln)single nucleotide variantPathogenicrs122445101GRCh37Chr X, 76814252: 76814252
2ATRXNM_000489.4(ATRX): c.568C> G (p.Pro190Ala)single nucleotide variantLikely pathogenic, Pathogenicrs122445103GRCh37Chr X, 76944337: 76944337
3CYP1B1NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His)single nucleotide variantPathogenicrs79204362GRCh37Chr 2, 38298394: 38298394

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

6
id CNVD ID Chromosom Start End Type Gene Symbol CNVD Disease
180271138880000093800000Deletioncoloboma

Expression for genes affiliated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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

Pathways for genes affiliated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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

idSuper pathwaysScoreTop Affiliating Genes
19.6PAX2, PAX6, SHH
29.3OTX2, PAX2, PAX6, SHH

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

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

idNameGO IDScoreTop Affiliating Genes
1nucleusGO:00056346.6ATRX, CECR2, CHD7, HOXA2, MAB21L2, OTX2

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

(show all 29)
idNameGO IDScoreTop Affiliating Genes
1primitive streak formationGO:009000910.7GDF3, OTX2
2dorsal/ventral axis specificationGO:000995010.6PAX6, VAX2
3formation of anatomical boundaryGO:004885910.5GDF3, SHH
4negative regulation of reactive oxygen species metabolic processGO:200037810.5PAX2, TFAP2A
5telencephalon regionalizationGO:002197810.5PAX6, SHH
6ectoderm developmentGO:000739810.4SHH, VAX2
7eye developmentGO:000165410.3GDF3, MAB21L2, PAX6
8dopaminergic neuron differentiationGO:007154210.2OTX2, SHH
9inner ear morphogenesisGO:004247210.1CHD7, PAX2, TFAP2A
10osteoblast developmentGO:000207610.1HOXA2, SHH
11positive regulation of neuroblast proliferationGO:000205210.1PAX6, SHH
12cell developmentGO:004846810.1GDF3, GDF6, SHH
13cell fate commitmentGO:00451659.9HOXA2, PAX6, SHH
14covalent chromatin modificationGO:00165699.9ATRX, CECR2, CHD7
15retina development in camera-type eyeGO:00600419.9CHD7, PAX6, VAX2
16cell fate determinationGO:00017099.9HOXA2, PAX2, PAX6
17anterior/posterior pattern specificationGO:00099529.8HOXA2, PAX6, SHH
18axonogenesisGO:00074099.7PAX2, PAX6, VAX2
19central nervous system developmentGO:00074179.7CHD7, PAX6, SHH, VAX1
20dorsal/ventral pattern formationGO:00099539.6HOXA2, PAX6, SHH
21visual perceptionGO:00076019.5CYP1B1, PAX2, PAX6, VAX2, VSX2
22palate developmentGO:00600219.4CHD7, FRAS1, SHH, TFAP2A, VAX1
23forebrain developmentGO:00309009.3ATRX, OTX2, PAX6, SHH, VAX2
24axon guidanceGO:00074119.2OTX2, PAX6, SHH, VAX1
25camera-type eye developmentGO:00430109.2CHD7, MAB21L2, PAX2, PAX6, SHH, VAX1
26positive regulation of transcription, DNA-templatedGO:00458939.1GDF6, OTX2, PAX2, PAX6, SHH, TFAP2A
27negative regulation of transcription from RNA polymerase II promoterGO:00001228.6HOXA2, PAX6, SHH, TFAP2A, VAX1, VAX2
28positive regulation of transcription from RNA polymerase II promoterGO:00459448.1ATRX, CHD7, HOXA2, OTX2, PAX2, PAX6
29transcription, DNA-templatedGO:00063518.1ATRX, CHD7, HOXA2, PAX2, PQBP1, VAX1

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

idNameGO IDScoreTop Affiliating Genes
1RNA polymerase II intronic transcription regulatory region sequence-specific DNA bindingGO:000116210.5VAX1, VAX2
2transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:00012279.9PAX6, VAX1, VAX2
3core promoter proximal region sequence-specific DNA bindingGO:00009879.9PAX2, TFAP2A
4RNA polymerase II core promoter proximal region sequence-specific DNA bindingGO:00009788.9CHD7, HOXA2, OTX2, PAX6, TFAP2A

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
25GTR
26HGMD
27HMDB
28ICD10
29ICD10 via Orphanet
30ICD9CM
31IUPHAR
32KEGG
35MedGen
37MeSH
38MESH via Orphanet
39MGI
42NCI
43NCIt
44NDF-RT
47NINDS
48Novoseek
50OMIM
51OMIM via Orphanet
55PubMed
56QIAGEN
61SNOMED-CT via Orphanet
65Tumor Gene Family of Databases
66UMLS
67UMLS via Orphanet