SFMS
MCID: MNT028
MIFTS: 15

Mental Retardation Smith Fineman Myers Type (SFMS)

Categories: Mental diseases, Neuronal diseases, Rare 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 52 71
Smith Fineman Myers Syndrome 52
Juberg-Marsidi Syndrome 71
Sfms 52

Classifications:



External Ids:

UMLS 71 C0796003 C0796159

Summaries for Mental Retardation Smith Fineman Myers Type

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 93974 Definition 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). Epidemiology Prevalence is unknown. Since its initial description in 1980, SFMS has been described in males from 11 families and in one isolated case. Clinical description SFMS 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. Etiology In 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 counseling Transmission is X-linked recessive . Visit the Orphanet disease page for more resources.

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

Related Diseases for Mental Retardation Smith Fineman Myers Type

Graphical network of the top 20 diseases related to Mental Retardation Smith Fineman Myers Type:



Diseases related to Mental Retardation Smith Fineman Myers Type

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

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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:

(show all 15)
# Title Authors PMID Year
1
A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family. 61
31746429 2020
2
Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes. 61
31781420 2019
3
[Fine mapping of Smith-Fineman-Myers syndrome and exclusion of GPC3, GPCR2 MST4 and GLUD2 as candidate genes]. 61
15192816 2004
4
[Characterization of genomic structure and mutation analysis of SMARCA1 gene in a Smith-Fineman-Myers syndrome family]. 61
15473299 2004
5
[Linkage analysis of X-linked nuclear protein gene in Smith-Fineman-Myers syndrome]. 61
11836680 2002
6
[Linkage analysis and mutation detection of GRIA3 in Smith--Fineman--Myers syndrome]. 61
11725645 2001
7
[Smith-Fineman-Myers syndrome]. 61
11528954 2001
8
Identification of a mutation in the XNP/ATR-X gene in a family reported as Smith-Fineman-Myers syndrome. 61
10751095 2000
9
Molecular-clinical spectrum of the ATR-X syndrome. 61
11449489 2000
10
[Mapping the gene responsible for Smith-Fineman-Myers syndrome to Xq25]. 61
10514530 1999
11
Smith-Fineman-Myers syndrome in apparently monozygotic twins. 61
9788563 1998
12
Smith-Fineman-Myers syndrome: report on a large family. 61
8135271 1993
13
Unusual fingerprint patterns in Smith-Fineman-Myers syndrome. 61
8362919 1993
14
Smith-Fineman-Myers syndrome in two brothers. 61
1684092 1991
15
Smith-Fineman-Myers syndrome: report of a third case. 61
4050861 1985

Variations for Mental Retardation Smith Fineman Myers Type

Expression for Mental Retardation Smith Fineman Myers Type

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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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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