MCID: MNT061
MIFTS: 30

Mental Retardation-Hypotonic Facies Syndrome, X-Linked malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories
Download this MalaCard

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

About this section
Sources:
65Wikipedia, 47OMIM, 33MalaCards
See all sources

Fully expand this MalaCard
Wikipedia:65 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:47 309580

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

About this section
Sources:
20GeneTests, 47OMIM, 49Orphanet, 62UMLS, 26ICD10 via Orphanet, 36MESH via Orphanet, 63UMLS via Orphanet
See all sources

Classifications:



Characteristics (Orphanet epidemiological data):

49
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 20 47
juberg-marsidi syndrome 49 62
x-linked intellectual disability - hypotonic face 49
mental retardation smith fineman myers type 62
renier-gabreels-jasper syndrome 49
smith-fineman-myers syndrome 49
chudley-lowry-hoar syndrome 49
carpenter-waziri syndrome 49
chudley-lowry syndrome 49
holmes-gang syndrome 49


External Ids:

OMIM47 309580
ICD10 via Orphanet26 Q87.0
MESH via Orphanet36 C537457
UMLS via Orphanet63 C0796003

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

About this section
Sources:
17GeneCards, 18GeneDecks
See all sources

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

About this section
Sources:
47OMIM, 49Orphanet
See all sources

Symptoms by clinical synopsis from OMIM:

309580

Clinical features from OMIM:

309580

Symptoms:

49 (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

About this section
Sources:
42NIH Clinical Center, 6ClinicalTrials
See all sources

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

About this section
Sources:
20GeneTests
See all sources

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

About this section
Sources:
33MalaCards
See all sources

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

33
Testes

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

About this section

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

About this section

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

About this section
Sources:
64UniProtKB/Swiss-Prot
See all sources

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

64
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

About this section
Sources:
2BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

About this section

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

About this section

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

About this section

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

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

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

About this section
4CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet