MCID: MNT028
MIFTS: 14

Mental Retardation Smith Fineman Myers Type

Categories: Rare diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Mental Retardation Smith Fineman Myers Type

MalaCards integrated aliases for Mental Retardation Smith Fineman Myers Type:

Name: Mental Retardation Smith Fineman Myers Type 49 69
Smith Fineman Myers Syndrome 49
Juberg-Marsidi Syndrome 69
Sfms 49

Classifications:



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Summaries for Mental Retardation Smith Fineman Myers Type

NIH Rare Diseases : 49 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93974Disease definitionSmith-Fineman-Myers syndrome (SFMS) is an X-linked mental retardation (XLMR) syndrome belonging to the group of conditions characterised by the association of intellectual deficit with hypotonic facies (Mental retardation, X-linked-hypotonic facies; see this term).EpidemiologyPrevalence is unknown. Since its initial description in 1980, SFMS has been described in males from 11 families and in one isolated case.Clinical descriptionSFMS is characterised by facial dysmorphism (slanted palpebral fissures, narrow face, micrognathia, patulous lower lip, flat or small philtrum, and alternating exotropia and ptosis), short stature, early hypotonia and later hypertonia, prominent upper central incisors, foot deformities (pes planus, metatarsus varus, equinovarus), psychomotor retardation, and behavioural problems.EtiologyIn most cases the syndrome is caused by mutations in the ATRX gene (Xq13.3), however, the causative gene in a large Chinese family with SFMS has been mapped to a 19.8 Mb interval on Xq25.Genetic counselingTransmission is X-linked recessive.Visit the Orphanet disease page for more resources. Last updated: 5/22/2008

MalaCards based summary : Mental Retardation Smith Fineman Myers Type, also known as smith fineman myers syndrome, is related to mental retardation-hypotonic facies syndrome, x-linked, 1 and schimmelpenning-feuerstein-mims syndrome, and has symptoms including vomiting and constipation.

Related Diseases for Mental Retardation Smith Fineman Myers Type

Diseases related to Mental Retardation Smith Fineman Myers Type via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 mental retardation-hypotonic facies syndrome, x-linked, 1 11.5
2 schimmelpenning-feuerstein-mims syndrome 11.3

Symptoms & Phenotypes for Mental Retardation Smith Fineman Myers Type

UMLS symptoms related to Mental Retardation Smith Fineman Myers Type:


vomiting, constipation

Drugs & Therapeutics for Mental Retardation Smith Fineman Myers Type

Search Clinical Trials , NIH Clinical Center for Mental Retardation Smith Fineman Myers Type

Genetic Tests for Mental Retardation Smith Fineman Myers Type

Anatomical Context for Mental Retardation Smith Fineman Myers Type

Publications for Mental Retardation Smith Fineman Myers Type

Articles related to Mental Retardation Smith Fineman Myers Type:

# Title Authors Year
1
[Characterization of genomic structure and mutation analysis of SMARCA1 gene in a Smith-Fineman-Myers syndrome family]. ( 15473299 )
2004
2
[Fine mapping of Smith-Fineman-Myers syndrome and exclusion of GPC3, GPCR2 MST4 and GLUD2 as candidate genes]. ( 15192816 )
2004
3
[Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome]. ( 11836680 )
2002
4
[Linkage analysis and mutation detection of GRIA3 in Smith--Fineman--Myers syndrome]. ( 11725645 )
2001
5
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. ( 10751095 )
2000
6
Smith-Fineman-Myers syndrome in two brothers. ( 1684092 )
1991

Variations for Mental Retardation Smith Fineman Myers Type

Expression for Mental Retardation Smith Fineman Myers Type

Search GEO for disease gene expression data for Mental Retardation Smith Fineman Myers Type.

Pathways for Mental Retardation Smith Fineman Myers Type

GO Terms for Mental Retardation Smith Fineman Myers Type

Sources for Mental Retardation Smith Fineman Myers Type

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58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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