MCID: MNT061
MIFTS: 34

Mental Retardation-Hypotonic Facies Syndrome, X-Linked malady

Neuronal diseases, Fetal diseases categories

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

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63Wikipedia, 46OMIM, 32MalaCards
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Wikipedia:63 Smith–Fineman–Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies... more...

MalaCards: Mental Retardation-Hypotonic Facies Syndrome, X-Linked, also known as juberg-marsidi syndrome, is related to mental retardation smith fineman myers type 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:46 309580

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

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Sources:
48Orphanet, 60UMLS, 20GeneTests, 46OMIM, 26ICD10 via Orphanet, 35MESH via Orphanet, 61UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Fetal diseases
Anatomical: Neuronal diseases


Characteristics (Orphanet epidemiological data):

48
x-linked intellectual deficit - 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 20 46
juberg-marsidi syndrome 48 60
x-linked intellectual deficit - hypotonic face 48
mental retardation smith fineman myers type 60
renier-gabreels-jasper syndrome 48
smith-fineman-myers syndrome 48
chudley-lowry-hoar syndrome 48
carpenter-waziri syndrome 48
chudley-lowry syndrome 48
holmes-gang syndrome 48


External Ids:

OMIM46 309580
ICD10 via Orphanet26 Q87.0
MESH via Orphanet35 C537457
UMLS via Orphanet61 C0796003

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

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17GeneCards, 18GeneDecks
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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
1mental retardation smith fineman myers type10.8
2mental retardation-hypotonic facies syndrome x-linked, 110.7
3renier gabreels jasper syndrome10.7
4juberg marsidi syndrome10.6
5alpha thalassemia10.3
6thalassemia10.3
7x-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

Clinical Features for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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Sources:
46OMIM, 48Orphanet
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Clinical features from OMIM:

309580

Clinical synopsis from OMIM:

309580

Symptoms:

48 (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:
5CenterWatch, 41NIH Clinical Center, 6ClinicalTrials
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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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20GeneTests
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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

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

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32MalaCards
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MalaCards organs/tissues related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

32
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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Genetic Variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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Sources:
62UniProtKB/Swiss-Prot
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Genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

62
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:
1BioGPS, 15Gene 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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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
50PubMed
51QIAGEN
57SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet