MCID: MNT061
MIFTS: 31

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:
46OMIM, 9diseasecard, 20GeneTests, 42NIH Rare Diseases, 44Novoseek, 48Orphanet, 61UMLS, 22GTR, 26ICD10 via Orphanet, 34MESH via Orphanet, 62UMLS via Orphanet
See all sources

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

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked 46 9 20
Juberg-Marsidi Syndrome 42 44 48 61
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 42 22
Chudley-Lowry-Hoar Syndrome 42 48
Carpenter-Waziri Syndrome 42 48
Chudley-Lowry Syndrome 42 48
Holmes-Gang Syndrome 42 48
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 42
Mental Retradation, X-Linked with Growth Delay, Deafness, Microgenitalism 42
X-Linked Hypogonadism Gynecomastia Mental Retardation 42
 
Juberg-Marsidi Mental Retardation Syndrome 42
Chudley Mental Retardation Syndrome 42
Smith Fineman Myers Syndrome 1 42
Chudley Lowry Hoar Syndrome 42
Juberg Marsidi Syndrome 42
Chudley Syndrome 1 42
Mrxhf1 42
Sfm1 42
Jms 42


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 309580
ICD10 via Orphanet26 Q87.0
MESH via Orphanet34 C537457
UMLS via Orphanet62 C0796003

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

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OMIM:46 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 alpha-thalassemia/mental retardation syndrome and thalassemia, and has symptoms including seizures, cryptorchidism and scrotal hypoplasia. 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.

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 all 11)
idRelated DiseaseScoreTop Affiliating Genes
1alpha-thalassemia/mental retardation syndrome10.4
2thalassemia10.4
3mental retardation smith fineman myers type10.4
4x-linked mental retardation craniofacial abnormal microcephaly club10.4
5mental retardation10.4
6gastrointestinal stromal tumor10.0
7myocardial infarction10.0
8vesicoureteral reflux10.0
9chronic pain10.0
10exstrophy-epispadias complex10.0
11epispadias10.0

Graphical network of 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 67)
id Description Frequency HPO Source Accession
1 seizures 35% HP:0001250
2 cryptorchidism HP:0000028
3 scrotal hypoplasia HP:0000046
4 hypospadias HP:0000047
5 micropenis HP:0000054
6 vesicoureteral reflux HP:0000076
7 renal hypoplasia HP:0000089
8 hypogonadism HP:0000135
9 wide mouth HP:0000154
10 macroglossia HP:0000158
11 thick lower lip vermilion HP:0000179
12 short upper lip HP:0000188
13 open mouth HP:0000194
14 high palate HP:0000218
15 thin upper lip vermilion HP:0000219
16 microcephaly HP:0000252
17 dolichocephaly HP:0000268
18 malar flattening HP:0000272
19 coarse facial features HP:0000280
20 epicanthus HP:0000286
21 hypertelorism HP:0000316
22 narrow forehead HP:0000341
23 micrognathia HP:0000347
24 posteriorly rotated ears HP:0000358
25 low-set ears HP:0000369
26 sensorineural hearing impairment HP:0000407
27 wide nasal bridge HP:0000431
28 triangular nasal tip HP:0000451
29 anteverted nares HP:0000463
30 short neck HP:0000470
31 ptosis HP:0000508
32 exotropia HP:0000577
33 upslanted palpebral fissure HP:0000582
34 optic atrophy HP:0000648
35 paroxysmal bursts of laughter HP:0000749
36 hyperactivity HP:0000752
37 brachydactyly syndrome HP:0001156
38 tapered finger HP:0001182
39 slender finger HP:0001238
40 hyperreflexia HP:0001347
41 x-linked recessive inheritance HP:0001419
42 widely-spaced maxillary central incisors HP:0001566
43 talipes equinovarus HP:0001762
44 pes planus HP:0001763
45 abnormality of blood and blood-forming tissues HP:0001871
46 talipes calcaneovalgus HP:0001884
47 vomiting HP:0002013
48 constipation HP:0002019
49 gastroesophageal reflux HP:0002020
50 drooling HP:0002307
51 delayed skeletal maturation HP:0002750
52 kyphoscoliosis HP:0002751
53 genu valgum HP:0002857
54 phenotypic variability HP:0003812
55 short stature HP:0004322
56 depressed nasal bridge HP:0005280
57 intellectual disability, progressive HP:0006887
58 lower limb hypertonia HP:0006895
59 microtia HP:0008551
60 decreased testicular size HP:0008734
61 infantile muscular hypotonia HP:0008947
62 radial deviation of finger HP:0009466
63 tented upper lip vermilion HP:0010804
64 u-shaped upper lip vermilion HP:0010806
65 protruding tongue HP:0010808
66 intellectual disability, severe HP:0010864
67 midface retrusion HP:0011800

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

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Drug clinical trials:

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

Search 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-Linked20 ATRX
2 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 122

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:

31
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:

63
id Symbol AA change Variation ID SNP ID
1ATRXp.Arg2131GlnVAR_001240
2ATRXp.Ile2050ThrVAR_012127
3ATRXp.Cys220TyrVAR_032625
4ATRXp.Leu409SerVAR_032626
5ATRXp.Arg2271GlyVAR_032627

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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Compounds 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
12ExPASy
13FDA
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
57SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet