MCID: MNT061
MIFTS: 30

Mental Retardation-Hypotonic Facies Syndrome, X-Linked malady

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

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

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66Wikipedia, 48OMIM, 34MalaCards
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Wikipedia:66 Smith?Fineman?Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome... more...

MalaCards: Mental Retardation-Hypotonic Facies Syndrome, X-Linked, also known as juberg-marsidi syndrome, is related to juberg marsidi syndrome and mental retardation-hypotonic facies syndrome x-linked, 1, and has symptoms including speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia, psychic/behavioural troubles and generalized obesity. An important gene associated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked is ATRX (alpha thalassemia/mental retardation syndrome X-linked). Affiliated tissues include testes.

Description from OMIM:48 309580

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

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Sources:
21GeneTests, 48OMIM, 50Orphanet, 63UMLS, 27ICD10 via Orphanet, 37MESH via Orphanet, 64UMLS via Orphanet
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Classifications:



Characteristics (Orphanet epidemiological data):

50
x-linked intellectual disability - hypotonic face:
Inheritance: X-linked recessive; Age of onset: Neonatal/infancy
renier-gabreels-jasper syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
smith-fineman-myers syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
chudley-lowry-hoar syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
holmes-gang syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy; Age of death: Before age 5
carpenter-waziri syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy
juberg-marsidi syndrome:
Inheritance: X-linked recessive; Prevalence: <1/1000000; Age of onset: Neonatal/infancy


Aliases & Descriptions:

mental retardation-hypotonic facies syndrome, x-linked 21 48
juberg-marsidi syndrome 50 63
x-linked intellectual disability - hypotonic face 50
mental retardation smith fineman myers type 63
renier-gabreels-jasper syndrome 50
smith-fineman-myers syndrome 50
chudley-lowry-hoar syndrome 50
carpenter-waziri syndrome 50
chudley-lowry syndrome 50
holmes-gang syndrome 50


External Ids:

OMIM48 309580
ICD10 via Orphanet27 Q87.0
MESH via Orphanet37 C537457
UMLS via Orphanet64 C0796003

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

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18GeneCards, 19GeneDecks
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Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

idRelated DiseaseScoreTop Affiliating Genes
1juberg marsidi syndrome10.8
2mental retardation-hypotonic facies syndrome x-linked, 110.7
3renier gabreels jasper syndrome10.7
4mental retardation smith fineman myers type10.5
5alpha thalassemia10.4
6thalassemia10.4
7mental retardation10.4
8alpha-thalassemia/mental retardation syndrome10.4
9faces syndrome10.3
10x-linked mental retardation craniofacial abnormal microcephaly club10.3

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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48OMIM, 50Orphanet
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Symptoms by clinical synopsis from OMIM:

309580

Clinical features from OMIM:

309580

Symptoms:

50 (show all 20)
  • speech troubles/aphasia/dysphasia/echolalia/mutism/logorrhea/dysprosodia
  • psychic/behavioural troubles
  • generalized obesity
  • macrostomia/big mouth
  • camptodactyly of some fingers
  • low hair line (back)
  • undescended/ectopic testes/cryptorchidia/unfixed testes
  • hip dislocation/dysplasia/coxa valga/coxa vara/coxa plana
  • small/atrophic/hypoplastic testes/monorchism/microorchidism/anorchia
  • genu valgum
  • short stature/dwarfism/nanism
  • narrow forehead
  • depressed nasal bridge
  • anteverted nares/nostrils
  • tented upper lip
  • high vaulted/narrow palate
  • late puberty/hypogonadism/hypogenitalism
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • x-linked recessive inheritance
  • microcephaly

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

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials
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Approved drugs:

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

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

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

Genetic Tests for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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21GeneTests
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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-Linked21 ATRX

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

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34MalaCards
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MalaCards organs/tissues related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

34
Testes

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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Sources:
65UniProtKB/Swiss-Prot
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UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

65
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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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet