MCID: MNT061
MIFTS: 41

Mental Retardation-Hypotonic Facies Syndrome, X-Linked malady

Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Ear diseases, Mental diseases categories

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

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Sources:
49OMIM, 11diseasecard, 22GeneTests, 45NIH Rare Diseases, 67UniProtKB/Swiss-Prot, 24GTR, 51Orphanet, 47Novoseek, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 34MedGen, 36MeSH
See all sources

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

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked 49 11 22
Juberg-Marsidi Syndrome 45 22 47 51 65 67
Carpenter-Waziri Syndrome 45 22 51 67
Chudley-Lowry Syndrome 22 51 67
Holmes-Gang Syndrome 45 51 67
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 45 22
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 45 24
Smith Fineman Myers Syndrome 1 45 22
Sfm1 45 67
Jms 45 67
Mental Retardation X-Linked with Growth Retardation Deafness and Microgenitalism 67
Mental Retradation, X-Linked with Growth Delay, Deafness, Microgenitalism 45
Mental Retardation, X-Linked, Syndromic, with Hypotonic Facies 1 67
X-Linked Hypogonadism Gynecomastia Mental Retardation 45
 
Juberg-Marsidi Mental Retardation Syndrome 45
Chudley Mental Retardation Syndrome 45
Xlmr-Hypotonic Facies Syndrome 67
Smith-Fineman-Myers Syndrome 1 67
Chudley-Lowry-Hoar Syndrome 51
Chudley Lowry Hoar Syndrome 45
Juberg Marsidi Syndrome 45
Holmes Gang Syndrome 22
Chudley Syndrome 1 45
Mrxshf1 67
Mrxhf1 45
Sfms 67
Cws 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
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


External Ids:

OMIM49 309580
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C537457
UMLS via Orphanet66 C0796003
MedGen34 C0796003
MeSH36 D038901

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

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OMIM:49 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 juberg-marsidi syndrome, is related to psoriasis and alpha-thalassemia/mental retardation syndrome, 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 (Alpha Thalassemia/Mental Retardation Syndrome X-Linked). Affiliated tissues include tongue and bone.

UniProtKB/Swiss-Prot:67 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 548)
idRelated DiseaseScoreTop Affiliating Genes
1psoriasis10.6
2alpha-thalassemia/mental retardation syndrome10.4
3thalassemia10.4
4mental retardation smith fineman myers type10.4
5x-linked mental retardation craniofacial abnormal microcephaly club10.4
6schimmelpenning-feuerstein-mims syndrome, somatic mosaic10.4
7psoriatic arthritis10.3
8arthritis10.3
9melanoma10.3
10hiv-110.2
11rhabdomyosarcoma10.2
12chronic interstitial cystitis10.1
13embryonal rhabdomyosarcoma10.1
14myopathy10.1
15endotheliitis10.1
16systemic lupus erythematosus10.0
17chondrosarcoma10.0
18menkes disease10.0
19c2 deficiency10.0
20alcoholic hepatitis10.0
21crohn's disease10.0
22ischemic heart disease10.0
23ulcerative colitis10.0
24severe acute respiratory syndrome10.0
25coats disease10.0
26ectomesenchymoma10.0
27cervicitis10.0
28colitis10.0
29eosinophilic pneumonia10.0
30lupus erythematosus10.0
31mesenchymal chondrosarcoma10.0
32myositis10.0
33periodontitis10.0
34pneumonia10.0
35respiratory failure10.0
36spondylitis10.0
37malignant ectomesenchymoma10.0
38myocardial infarction10.0
39chronic pain10.0
40mental retardation-hypotonic facies syndrome, x-linked9.9ATRX, PQBP1
41wilson-turner syndrome9.9ATRX, PQBP1
42alpha-thalassemia myelodysplasia syndrome, somatic9.9ATRX, PQBP1
43synostosis9.9ATRX, PQBP1
44tarp syndrome9.8ATRX, PQBP1
45olmsted syndrome, x-linked9.8ATRX, PQBP1
46disseminated intravascular coagulation9.8ATRX, PQBP1
47gallbladder disease 29.8
48immunodeficiency 149.8
49gastrointestinal stromal tumor9.8
50multiple sclerosis 49.8

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 84)
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 cryptorchidism HP:0000028
20 scrotal hypoplasia HP:0000046
21 hypospadias HP:0000047
22 micropenis HP:0000054
23 vesicoureteral reflux HP:0000076
24 renal hypoplasia HP:0000089
25 hypogonadism HP:0000135
26 wide mouth HP:0000154
27 macroglossia HP:0000158
28 thick lower lip vermilion HP:0000179
29 short upper lip HP:0000188
30 open mouth HP:0000194
31 high palate HP:0000218
32 thin upper lip vermilion HP:0000219
33 microcephaly HP:0000252
34 dolichocephaly HP:0000268
35 malar flattening HP:0000272
36 coarse facial features HP:0000280
37 epicanthus HP:0000286
38 hypertelorism HP:0000316
39 narrow forehead HP:0000341
40 micrognathia HP:0000347
41 posteriorly rotated ears HP:0000358
42 low-set ears HP:0000369
43 sensorineural hearing impairment HP:0000407
44 wide nasal bridge HP:0000431
45 triangular nasal tip HP:0000451
46 anteverted nares HP:0000463
47 short neck HP:0000470
48 ptosis HP:0000508
49 exotropia HP:0000577
50 upslanted palpebral fissure HP:0000582
51 optic atrophy HP:0000648
52 paroxysmal bursts of laughter HP:0000749
53 hyperactivity HP:0000752
54 brachydactyly syndrome HP:0001156
55 tapered finger HP:0001182
56 slender finger HP:0001238
57 hyperreflexia HP:0001347
58 x-linked recessive inheritance HP:0001419
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 phenotypic variability HP:0003812
72 short stature HP:0004322
73 depressed nasal bridge HP:0005280
74 intellectual disability, progressive HP:0006887
75 lower limb hypertonia HP:0006895
76 microtia HP:0008551
77 decreased testicular size HP:0008734
78 infantile muscular hypotonia HP:0008947
79 radial deviation of finger HP:0009466
80 tented upper lip vermilion HP:0010804
81 u-shaped upper lip vermilion HP:0010806
82 protruding tongue HP:0010808
83 intellectual disability, severe HP:0010864
84 hypoplasia of midface HP:0011800

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

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Interventional clinical trials:

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

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-Linked22 ATRX
2 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 124

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:

33
Tongue, Bone

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

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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:

67
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

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

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet