MCID: MNT061
MIFTS: 37

Mental Retardation-Hypotonic Facies Syndrome, X-Linked malady

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

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, 61The 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 49 11 22
Juberg-Marsidi Syndrome 45 22 47 51 67 65
Carpenter-Waziri Syndrome 45 22 51 67
Holmes-Gang Syndrome 45 22 51 67
Chudley-Lowry Syndrome 22 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 22 67
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
Smith Fineman Myers Syndrome 1 45
Xlmr-Hypotonic Facies Syndrome 67
Chudley-Lowry-Hoar Syndrome 51
Chudley Lowry Hoar Syndrome 45
Juberg Marsidi Syndrome 45
Chudley Syndrome 1 45
Mrxshf1 67
Mrxhf1 45
Sfms 67
Cws 67

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

HPO:

61
mental retardation-hypotonic facies syndrome, x-linked:
Onset and clinical course: phenotypic variability
Inheritance: x-linked recessive inheritance


Classifications:



External Ids:

OMIM49 309580
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C537457
UMLS via Orphanet66 C0796003
MedGen34 C0796003
MeSH36 D038901
UMLS65 C0796003

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 schimmelpenning-feuerstein-mims syndrome, somatic mosaic and mental retardation smith fineman myers type, and has symptoms including cognitive impairment, tented upper lip vermilion and depressed nasal bridge. An important gene associated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked is ATRX (Alpha Thalassemia/Mental Retardation Syndrome X-Linked). Affiliated tissues include bone and tongue.

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

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

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
Bone, Tongue

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

idNameGO IDScoreTop Affiliating Genes
1regulation of transcription, DNA-templatedGO:00063559.1ATRX, PQBP1

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

idNameGO IDScoreTop Affiliating Genes
1DNA bindingGO:00036779.1ATRX, PQBP1

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