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:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 25Genetics Home Reference, 27GTR, 30ICD10, 31ICD10 via Orphanet, 37MedGen, 39MeSH, 40MESH via Orphanet, 45NCIt, 48NIH Rare Diseases, 50Novoseek, 52OMIM, 54Orphanet, 62SNOMED-CT, 64The Human Phenotype Ontology, 68UMLS, 69UMLS via Orphanet, 70UniProtKB/Swiss-Prot
See all MalaCards sources

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

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked 52 24 12
Coloboma 11 24 25 27 50 39 13
Juberg-Marsidi Syndrome 48 24 54 70 50 68
Carpenter-Waziri Syndrome 48 24 54 70
Holmes-Gang Syndrome 48 24 54 70
Congenital Ocular Coloboma 11 25 27
Chudley-Lowry Syndrome 24 54 70
Coloboma of Macula 11 48 54
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 48 24
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 48 27
Microphthalmia, Isolated, with Coloboma 25 27
Smith-Fineman-Myers Syndrome 1 24 70
Hereditary Macular Coloboma 48 68
Sfm1 48 70
Jms 48 70
Mental Retardation X-Linked with Growth Retardation Deafness and Microgenitalism 70
Mental Retradation, X-Linked with Growth Delay, Deafness, Microgenitalism 48
Mental Retardation, X-Linked, Syndromic, with Hypotonic Facies 1 70
Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 52
X-Linked Hypogonadism Gynecomastia Mental Retardation 48
 
Mental Retardation Smith Fineman Myers Type 68
Juberg-Marsidi Mental Retardation Syndrome 48
Chudley Mental Retardation Syndrome 48
Renier-Gabreels-Jasper Syndrome 54
Xlmr-Hypotonic Facies Syndrome 70
Smith Fineman Myers Syndrome 1 48
Smith-Fineman-Myers Syndrome 54
Chudley Lowry Hoar Syndrome 48
Chudley-Lowry-Hoar Syndrome 54
Juberg Marsidi Syndrome 48
Uveoretinal Coloboma 25
Agenesis of Macula 48
Chudley Syndrome 1 48
Macular Coloboma 48
Ocular Coloboma 25
Coloboma of Eye 11
Mrxshf1 70
Mrxhf1 48
Sfms 70
Cws 70

Characteristics:

Orphanet epidemiological data:

54
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:

64
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:

OMIM52 309580
Disease Ontology11 DOID:12270
ICD1030 Q13.0
NCIt45 C98877
SNOMED-CT62 92828000, 93390002
ICD10 via Orphanet31 Q87.0, Q14.8
MESH via Orphanet40 C537457
UMLS via Orphanet69 C0796003
MedGen37 C0796003

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

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OMIM:52 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). Affiliated tissues include eye, retina and brain, and related mouse phenotypes are Increased shRNA abundance (Z-score > 2) and hearing/vestibular/ear.

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.

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:70 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

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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 253)
idRelated DiseaseScoreTop Affiliating Genes
1coloboma of optic nerve34.3GDF3, PAX6, SALL2, YAP1
2microphthalmia with coloboma 6, digenic34.0GDF3, GDF6
3coloboma of eyelid33.2ABCB6, GDF3, GDF6, MAB21L2, VSX2
4megacolon30.0PAX2, PAX6
5renier gabreels jasper syndrome12.4
6coloboma, ocular12.2
7coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation12.1
8corpus callosum, agenesis of, with mental retardation, ocular coloboma and micrognathia12.1
9microphthalmia with coloboma 512.0
10coloboma, ocular, autosomal recessive12.0
11microphthalmia, isolated, with coloboma 712.0
12microphthalmia, isolated, with coloboma 912.0
13retinal dystrophy, iris coloboma, and comedogenic acne syndrome12.0
14papillorenal syndrome12.0
15microphthalmia with coloboma 312.0
16palpebral coloboma-lipoma syndrome12.0
17coloboma of iris11.9
18microphthalmia, isolated, with coloboma 1011.9
19retinochoroidal coloboma11.9
20coloboma of eye lens11.8
21hypospadias, hypertelorism, upper lid coloboma, and mixed-type hearing loss11.8
22coloboma, cleft lip/palate and mental retardation syndrome11.7
23microtia with nasolacrimal duct imperforation and eye coloboma11.7
24coloboma of macula with type b brachydactyly11.7
25cerebral-cerebellar-coloboma syndrome, x-linked11.7
26temtamy syndrome11.7
27coloboma-obesity-hypogenitalism-mental retardation syndrome11.6
28coloboma of macula and skeletal anomalies11.6
29coloboma of optic papilla11.6
30microcornea posterior megalolenticonus persistent fetal vasculature coloboma11.6
31coloboma of inferior eyelid11.6
32coloboma of superior eyelid11.6
33charge syndrome11.6
34thumb, hypoplastic, with choroid coloboma, poorly developed antihelix, and deafness11.6
35microphthalmia/anophthalmia/coloboma spectrum11.6
36amelia cleft lip palate hydrocephalus iris coloboma11.6
37coloboma porencephaly hydronephrosis11.6
38esophageal atresia coloboma talipes11.6
39hypercalcinuria macular coloboma11.6
40ptosis coloboma mental retardation11.6
41short limb dwarf edema iris coloboma11.6
42coach syndrome11.5
43chime syndrome11.5
44microphthalmia, syndromic 911.4
45kahrizi syndrome11.3
46baraitser-winter syndrome 111.3
47manitoba oculotrichoanal syndrome11.3
48abruzzo-erickson syndrome11.3
49baraitser-winter syndrome11.3
50cat eye syndrome11.1

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

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Symptoms by clinical synopsis from OMIM:

309580

Clinical features from OMIM:

309580

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

 64 (show all 74)
id Description HPO Frequency HPO Source Accession
1 abnormality of the palate64 hallmark (90%) HP:0000174
2 microcephaly64 hallmark (90%) HP:0000252
3 narrow forehead64 hallmark (90%) HP:0000341
4 anteverted nares64 hallmark (90%) HP:0000463
5 short stature64 hallmark (90%) HP:0004322
6 depressed nasal bridge64 hallmark (90%) HP:0005280
7 tented upper lip vermilion64 hallmark (90%) HP:0010804
8 cognitive impairment64 hallmark (90%) HP:0100543
9 behavioral abnormality64 typical (50%) HP:0000708
10 obesity64 typical (50%) HP:0001513
11 neurological speech impairment64 typical (50%) HP:0002167
12 genu valgum64 typical (50%) HP:0002857
13 seizures64 35% HP:0001250
14 cryptorchidism64 occasional (7.5%) HP:0000028
15 wide mouth64 occasional (7.5%) HP:0000154
16 low posterior hairline64 occasional (7.5%) HP:0002162
17 abnormality of the hip bone64 occasional (7.5%) HP:0003272
18 camptodactyly of finger64 occasional (7.5%) HP:0100490
19 macular coloboma64 HP:0001116
20 scrotal hypoplasia64 HP:0000046
21 hypospadias64 HP:0000047
22 micropenis64 HP:0000054
23 vesicoureteral reflux64 HP:0000076
24 renal hypoplasia64 HP:0000089
25 hypogonadism64 HP:0000135
26 macroglossia64 HP:0000158
27 thick lower lip vermilion64 HP:0000179
28 short upper lip64 HP:0000188
29 open mouth64 HP:0000194
30 high palate64 HP:0000218
31 thin upper lip vermilion64 HP:0000219
32 dolichocephaly64 HP:0000268
33 malar flattening64 HP:0000272
34 coarse facial features64 HP:0000280
35 epicanthus64 HP:0000286
36 hypertelorism64 HP:0000316
37 micrognathia64 HP:0000347
38 posteriorly rotated ears64 HP:0000358
39 low-set ears64 HP:0000369
40 sensorineural hearing impairment64 HP:0000407
41 wide nasal bridge64 HP:0000431
42 triangular nasal tip64 HP:0000451
43 short neck64 HP:0000470
44 ptosis64 HP:0000508
45 exotropia64 HP:0000577
46 upslanted palpebral fissure64 HP:0000582
47 optic atrophy64 HP:0000648
48 paroxysmal bursts of laughter64 HP:0000749
49 hyperactivity64 HP:0000752
50 brachydactyly syndrome64 HP:0001156
51 tapered finger64 HP:0001182
52 slender finger64 HP:0001238
53 hyperreflexia64 HP:0001347
54 widely-spaced maxillary central incisors64 HP:0001566
55 talipes equinovarus64 HP:0001762
56 pes planus64 HP:0001763
57 abnormality of blood and blood-forming tissues64 HP:0001871
58 talipes calcaneovalgus64 HP:0001884
59 vomiting64 HP:0002013
60 constipation64 HP:0002019
61 gastroesophageal reflux64 HP:0002020
62 drooling64 HP:0002307
63 delayed skeletal maturation64 HP:0002750
64 kyphoscoliosis64 HP:0002751
65 intellectual disability, progressive64 HP:0006887
66 lower limb hypertonia64 HP:0006895
67 microtia64 HP:0008551
68 decreased testicular size64 HP:0008734
69 infantile muscular hypotonia64 HP:0008947
70 radial deviation of finger64 HP:0009466
71 u-shaped upper lip vermilion64 HP:0010806
72 protruding tongue64 HP:0010808
73 intellectual disability, severe64 HP:0010864
74 midface retrusion64 HP:0011800

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


constipation, drooling, vomiting

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

26
idDescriptionGenomeRNAi Source AccessionScoreTop Affiliating Genes
1GR00366-A-359.9ATRX, FRAS1, MAB21L2, VSX2

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

41 (show all 11)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:000537710.3CHD7, GDF6, HOXA2, PAX2, PAX6, SNAP25
2MP:000118610.2MAB21L2, MFRP, PAX2, PAX6, VSX2
3MP:00053829.9CHD7, FRAS1, GDF6, HOXA2, PAX6, VAX1
4MP:00053809.8ATRX, CHD7, FZD5, GDF3, HOXA2, PAX2
5MP:00053819.7CHD7, FRAS1, FZD5, HOXA2, PAX6, VAX1
6MP:00053859.5ATRX, CHD7, FRAS1, FZD5, HOXA2, MAB21L2
7MP:00053849.4ABCB6, ATRX, CHD7, FRAS1, GDF3, HOXA2
8MP:00053789.1ATRX, CHD7, FRAS1, FZD5, GDF3, GDF6
9MP:00053919.1ATRX, CHD7, CYP1B1, FRAS1, FZD5, GDF6
10MP:00036319.0ATRX, CHD7, FZD5, GDF6, HOXA2, MFRP
11MP:00107688.6ABCB6, ATRX, CHD7, FRAS1, FZD5, GDF3

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

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

idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1Pharmaceutical SolutionsPhase 17793
2Ophthalmic SolutionsPhase 11092

Interventional clinical trials:

idNameStatusNCT IDPhase
1Spectral Domain Optical Coherence Tomography Imaging of the Eyes of NeonatesCompletedNCT01404247Phase 1
2Quality of Life in Children Glaucoma and CataractCompletedNCT02490267
3Evaluation and Treatment of Pediatric, Developmental, and Genetic Eye DiseasesCompletedNCT00076271
4Genetics of Uveal ColobomaRecruitingNCT01778543
5A More Engaging Visual Field Test to Increase Use and Reliability in PediatricsRecruitingNCT02157025
6Whole Exome and Whole Genome Sequencing for Genotyping of Inherited and Congenital Eye ConditionsRecruitingNCT02077894
7Craniofacial Microsomia: Longitudinal Outcomes in Children Pre-Kindergarten (CLOCK)RecruitingNCT02224677
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, 127
2 Congenital Ocular Coloboma27
3 Coloboma27 24
4 Microphthalmia, Isolated, with Coloboma27
5 Mental Retardation-Hypotonic Facies Syndrome, X-Linked24 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:

36
Eye, Retina, Brain, Tongue, Testes, Bone

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:

70
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)SNVPathogenicrs122445101GRCh37Chr X, 76814252: 76814252
2ATRXNM_000489.4(ATRX): c.568C> G (p.Pro190Ala)SNVLikely pathogenic, Pathogenicrs122445103GRCh37Chr X, 76944337: 76944337
3ATRXNM_000489.4(ATRX): c.109C> T (p.Arg37Ter)SNVPathogenicrs122445108GRCh37Chr X, 76972632: 76972632
4YAP1NM_001130145.2(YAP1): c.370C> T (p.Arg124Ter)SNVPathogenicrs587777249GRCh38Chr 11, 102114192: 102114192
5FIBPNM_198897.1(FIBP): c.673C> T (p.Gln225Ter)SNVLikely pathogenic, Pathogenicrs786204849GRCh38Chr 11, 65885181: 65885181
6GDF3NM_020634.2(GDF3): c.914T> C (p.Leu305Pro)SNVPathogenicrs387906945GRCh37Chr 12, 7842655: 7842655
7PAX6NM_000280.4(PAX6): c.773T> C (p.Phe258Ser)SNVPathogenicrs121907925GRCh37Chr 11, 31815343: 31815343
8CYP1B1NM_000104.3(CYP1B1): c.1103G> A (p.Arg368His)SNVPathogenicrs79204362GRCh37Chr 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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GO Terms for genes affiliated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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

(show all 18)
idNameGO IDScoreTop Affiliating Genes
1notochord developmentGO:003090311.0GDF3, YAP1
2embryonic camera-type eye morphogenesisGO:004859611.0FZD5, PAX6
3eye photoreceptor cell developmentGO:004246211.0MFRP, PAX6
4dorsal/ventral axis specificationGO:000995011.0PAX6, VAX2
5regulation of canonical Wnt signaling pathwayGO:006082810.9FZD5, YAP1
6forebrain developmentGO:003090010.9ATRX, PAX6, VAX2
7regulation of metanephric nephron tubule epithelial cell differentiationGO:007230710.9PAX2, YAP1
8axonogenesisGO:000740910.9PAX2, PAX6, VAX2
9central nervous system developmentGO:000741710.9CHD7, PAX6, VAX1
10cell fate determinationGO:000170910.8HOXA2, PAX2, PAX6
11cellular response to retinoic acidGO:007130010.8HOXA2, PAX2, YAP1
12palate developmentGO:006002110.8CHD7, FRAS1, VAX1
13regulation of neurogenesisGO:005076710.8CHD7, PAX6, YAP1
14eye developmentGO:000165410.8GDF3, MAB21L2, PAX6, SALL2
15retina development in camera-type eyeGO:006004110.6CHD7, MFRP, PAX6, VAX2
16camera-type eye developmentGO:004301010.4CHD7, MAB21L2, PAX2, PAX6, VAX1, VAX2
17positive regulation of transcription from RNA polymerase II promoterGO:004594410.3ATRX, CHD7, FZD5, HOXA2, PAX2, PAX6
18visual perceptionGO:00076019.7CYP1B1, MFRP, PAX2, PAX6, VAX2, VSX2

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:000116210.8VAX1, VAX2
2transcription regulatory region DNA bindingGO:004421210.5PAX2, PAX6, SALL2, YAP1
3transcriptional repressor activity, RNA polymerase II transcription regulatory region sequence-specific bindingGO:000122710.1PAX6, VAX1, VAX2

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

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
27GTR
28HGMD
29HMDB
30ICD10
31ICD10 via Orphanet
32ICD9CM
33IUPHAR
34KEGG
37MedGen
39MeSH
40MESH via Orphanet
41MGI
44NCI
45NCIt
46NDF-RT
49NINDS
50Novoseek
52OMIM
53OMIM via Orphanet
57PubMed
58QIAGEN
63SNOMED-CT via Orphanet
67Tumor Gene Family of Databases
68UMLS
69UMLS via Orphanet