MCID: MNT061
MIFTS: 25

Mental Retardation-Hypotonic Facies Syndrome, X-Linked malady

Genetic diseases, Neuronal diseases, Fetal diseases, Rare diseases, Mental diseases categories
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Summaries for Mental Retardation-Hypotonic Facies Syndrome, X-Linked

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Wikipedia:65 Smith?Fineman?Myers syndrome (SFMS1), also called X-linked mental retardation-hypotonic facies syndrome... more...

MalaCards based summary: Mental Retardation-Hypotonic Facies Syndrome, X-Linked, also known as carpenter-waziri syndrome, is related to juberg marsidi syndrome and mental retardation-hypotonic facies syndrome x-linked, 1, and has symptoms including An important gene associated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked is ATRX (alpha thalassemia/mental retardation syndrome X-linked).

Description from OMIM:46 309580

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

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Sources:
62UMLS, 48Orphanet, 20GeneTests, 46OMIM, 26ICD10 via Orphanet, 35MESH via Orphanet, 63UMLS via Orphanet
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Mental Retardation-Hypotonic Facies Syndrome, X-Linked, Aliases & Descriptions:

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked 20 46
Carpenter-Waziri Syndrome 48 62
Juberg-Marsidi Syndrome 48 62
Holmes-Gang Syndrome 48 62
Mental Retardation Smith Fineman Myers Type 62
 
Renier-Gabreels-Jasper Syndrome 48
Smith-Fineman-Myers Syndrome 48
Chudley Lowry Hoar Syndrome 62
Chudley-Lowry-Hoar Syndrome 48
Chudley-Lowry Syndrome 48


Classifications:



Characteristics (Orphanet epidemiological data):

48
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


External Ids:

OMIM46 309580
ICD10 via Orphanet26 Q87.0
MESH via Orphanet35 C537457
UMLS via Orphanet63 C0796003

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

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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, 110.8
3renier gabreels jasper syndrome10.7
4x-linked mental retardation craniofacial abnormal microcephaly club10.5
5thalassemia10.4
6alpha thalassemia10.4
7mental retardation smith fineman myers type10.4
8mental retardation10.4
9alpha-thalassemia/mental retardation syndrome10.4
10faces syndrome10.3

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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Symptoms by clinical synopsis from OMIM:

309580

Clinical features from OMIM:

309580

HPO human phenotypes related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked:

(show all 67)
id Description Frequency HPO Source Accession
1 seizures 35% HP:0001250
2 cryptorchidism HP:0000028
3 scrotal hypoplasia HP:0000046
4 hypospadias HP:0000047
5 micropenis HP:0000054
6 vesicoureteral reflux HP:0000076
7 renal hypoplasia HP:0000089
8 hypogonadism HP:0000135
9 wide mouth HP:0000154
10 macroglossia HP:0000158
11 thick lower lip vermilion HP:0000179
12 short upper lip HP:0000188
13 open mouth HP:0000194
14 high palate HP:0000218
15 thin upper lip vermilion HP:0000219
16 microcephaly HP:0000252
17 dolichocephaly HP:0000268
18 malar flattening HP:0000272
19 coarse facial features HP:0000280
20 epicanthus HP:0000286
21 hypertelorism HP:0000316
22 narrow forehead HP:0000341
23 micrognathia HP:0000347
24 posteriorly rotated ears HP:0000358
25 low-set ears HP:0000369
26 sensorineural hearing impairment HP:0000407
27 wide nasal bridge HP:0000431
28 triangular nasal tip HP:0000451
29 anteverted nares HP:0000463
30 short neck HP:0000470
31 ptosis HP:0000508
32 exotropia HP:0000577
33 upslanted palpebral fissure HP:0000582
34 optic atrophy HP:0000648
35 paroxysmal bursts of laughter HP:0000749
36 hyperactivity HP:0000752
37 brachydactyly syndrome HP:0001156
38 tapered finger HP:0001182
39 slender finger HP:0001238
40 hyperreflexia HP:0001347
41 x-linked recessive inheritance HP:0001419
42 widely-spaced maxillary central incisors HP:0001566
43 talipes equinovarus HP:0001762
44 pes planus HP:0001763
45 abnormality of blood and blood-forming tissues HP:0001871
46 talipes calcaneovalgus HP:0001884
47 vomiting HP:0002013
48 constipation HP:0002019
49 gastroesophageal reflux HP:0002020
50 drooling HP:0002307
51 delayed skeletal maturation HP:0002750
52 kyphoscoliosis HP:0002751
53 genu valgum HP:0002857
54 phenotypic variability HP:0003812
55 short stature HP:0004322
56 depressed nasal bridge HP:0005280
57 intellectual disability, progressive HP:0006887
58 lower limb hypertonia HP:0006895
59 microtia HP:0008551
60 decreased testicular size HP:0008734
61 infantile muscular hypotonia HP:0008947
62 radial deviation of finger HP:0009466
63 tented upper lip vermilion HP:0010804
64 u-shaped upper lip vermilion HP:0010806
65 protruding tongue HP:0010808
66 intellectual disability, severe HP:0010864
67 midface retrusion HP:0011800

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

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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

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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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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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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

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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
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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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet