MCID: MNT309
MIFTS: 37

Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Categories: Genetic diseases, Rare diseases, Neuronal diseases, Fetal diseases, Ear diseases, Mental diseases

Aliases & Classifications for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

MalaCards integrated aliases for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

Name: Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 57
Juberg-Marsidi Syndrome 57 53 59 75 55 73
Mental Retardation-Hypotonic Facies Syndrome, X-Linked 57 13 6 40
Carpenter-Waziri Syndrome 57 59 75
Chudley-Lowry Syndrome 57 59 75
Holmes-Gang Syndrome 57 59 75
Jms 57 53 75
Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 29 6
Smith-Fineman-Myers Syndrome 1 57 75
Xlmr-Hypotonic Facies Syndrome 57 75
Sfm1 57 75
Sfms 57 75
Intellectual Disability, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 53
Mental Retardation, X-Linked, with Growth Retardation, Deafness, and Microgenitalism 57
Mental Retardation X-Linked with Growth Retardation Deafness and Microgenitalism 75
Intellectual Disability, X-Linked with Growth Delay, Deafness, Microgenitalism 53
Mental Retardation, X-Linked, Syndromic, with Hypotonic Facies 1 75
X-Linked Intellectual Disability-Hypotonic Facies Syndrome 1 53
X-Linked Hypogonadism Gynecomastia Intellectual Disability 53
Juberg-Marsidi Intellectual Disability Syndrome 53
Mental Retardation Smith Fineman Myers Type 73
Smith-Fineman-Myers Syndrome 1; Sfm1 57
Renier-Gabreels-Jasper Syndrome 59
Juberg-Marsidi Syndrome; Jms 57
Smith-Fineman-Myers Syndrome 59
Chudley-Lowry-Hoar Syndrome 59
Juberg Marsidi Syndrome 53
Mrxshf1 75
Mrxhf1 57
Cws 75

Characteristics:

Orphanet epidemiological data:

59
renier-gabreels-jasper syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
smith-fineman-myers syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
chudley-lowry-hoar syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
holmes-gang syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal; Age of death: early childhood;
carpenter-waziri syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;
juberg-marsidi syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

57
Miscellaneous:
variable phenotype
alpha-thalassemia/mental retardation syndrome is an allelic disorder

Inheritance:
x-linked recessive


HPO:

32
mental retardation-hypotonic facies syndrome, x-linked, 1:
Onset and clinical course phenotypic variability
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 93972Disease definitionJuberg-Marsidi syndrome 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 but since its initial description in 1980 several unrelated families with affected males have been reported.Clinical descriptionThe syndrome is characterised by facial dysmorphism (a flat and broad nasal bridge, prominent forehead, upslanting palpebral fissures, hypertelorism and various ear anomalies), growth failure, sensorineural deafness, microgenitalism and severe intellectual deficit.EtiologyThe syndrome is caused by mutations in the ATRX gene (Xq13.3).Genetic counselingInheritance is X-linked recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1, also known as juberg-marsidi syndrome, is related to renier gabreels jasper syndrome and mental retardation smith fineman myers type, and has symptoms including constipation and vomiting. An important gene associated with Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 is ATRX (ATRX, Chromatin Remodeler). Affiliated tissues include bone, testes and tongue, and related phenotypes are malar flattening and hypertelorism

OMIM : 57 The term 'X-linked mental retardation-hypotonic facies syndrome' comprises several syndromes previously reported separately. These include Juberg-Marsidi, Carpenter-Waziri, Holmes-Gang, and Smith-Fineman-Myers syndromes as well as 1 family with X-linked mental retardation with spastic paraplegia. All these syndromes were found to be caused by mutation in the XH2 gene and are characterized primarily by severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women (Abidi et al., 2005). Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects. X-linked alpha-thalassemia/mental retardation syndrome (ATR-X; 301040) is an allelic disorder with a similar phenotype with the addition of alpha-thalassemia and Hb H inclusion bodies in erythrocytes. (309580)

UniProtKB/Swiss-Prot : 75 Mental retardation, X-linked, syndromic, with hypotonic facies 1: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRXSHF1 is a syndromic mental retardation. Clinical features include severe mental retardation, dysmorphic facies, and a highly skewed X-inactivation pattern in carrier women. Other more variable features include hypogonadism, deafness, renal anomalies, and mild skeletal defects.

Wikipedia : 76 Smith–Fineman–Myers syndrome (SFMS1) is a congenital disorder that causes birth defects. This syndrome... more...

Related Diseases for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 44)
# Related Disease Score Top Affiliating Genes
1 renier gabreels jasper syndrome 12.5
2 mental retardation smith fineman myers type 11.7
3 x-linked mental retardation craniofacial abnormal microcephaly club 11.6
4 schimmelpenning-feuerstein-mims syndrome 11.3
5 johnson neuroectodermal syndrome 11.1
6 psoriasis 10.2
7 alacrima, achalasia, and mental retardation syndrome 10.2
8 gynecomastia 10.2
9 hypogonadism 10.2
10 craniosynostosis with fibular aplasia 10.2
11 endotheliitis 10.1
12 chronic interstitial cystitis 10.1
13 psoriatic arthritis 10.0
14 arthritis 10.0
15 sarcoma 10.0
16 melanoma 10.0
17 rhabdomyosarcoma 10.0
18 hydrocephalus 9.9
19 hematopoietic stem cell transplantation 9.9
20 soft tissue sarcoma 9.9
21 psoriasis 2 9.9
22 psoriasis 7 9.9
23 psoriasis 11 9.9
24 psoriasis 13 9.9
25 embryonal rhabdomyosarcoma 9.9
26 bladder cancer 9.8
27 prostate cancer 9.8
28 vesicoureteral reflux 1 9.8
29 hydrocephalus due to congenital stenosis of aqueduct of sylvius 9.8
30 gastrointestinal stromal tumor 9.8
31 myocardial infarction 9.8
32 aortic valve disease 2 9.8
33 bladder exstrophy-epispadias-cloacal exstrophy complex 9.8
34 prostatitis 9.8
35 congenital hydrocephalus 9.8
36 chronic pain 9.8
37 epispadias 9.8
38 hepatitis 9.8
39 inflammatory bowel disease 9.8
40 lymphoma 9.8
41 myopathy 9.8
42 idiopathic inflammatory myopathy 9.8
43 menkes disease 9.6
44 macular degeneration, age-related, 1 9.6

Graphical network of the top 20 diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:



Diseases related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Symptoms & Phenotypes for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
ptosis
optic atrophy
epicanthal folds
upslanting palpebral fissures
more
Neurologic Central Nervous System:
hyperreflexia
seizures (in 35%)
mental retardation, severe, profound
hypotonia, early
hypertonia of lower limbs, later

Head And Neck Face:
coarse facial features
micrognathia
midface hypoplasia
bitemporal narrowing
small philtrum

Skeletal Feet:
pes planus
talipes equinovarus
talipes calcaneovalgus

Growth Height:
short stature

Genitourinary External Genitalia Male:
hypogonadism
hypospadias
micropenis
hypoplastic scrotum
small testes

Skeletal Hands:
brachydactyly
clinodactyly of isolated digits
slender, tapering fingers

Skeletal:
delayed bone age

Skeletal Limbs:
genua valga

Growth Weight:
obesity, mild (rare)

Genitourinary Kidneys:
renal hypoplasia (less common)

Skeletal Spine:
kyphoscoliosis (approximately 30%)

Head And Neck Ears:
low-set ears
posteriorly rotated ears
small ears
everted ears
hyperfolded ears
more
Abdomen Gastrointestinal:
constipation
gastroesophageal reflux
vomiting
gut dysmotility

Head And Neck Nose:
depressed nasal bridge
triangular nasal tip
anteverted nostrils
flat, broad nasal bridge

Head And Neck Head:
microcephaly
dolichocephaly

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Head And Neck Mouth:
open mouth
protruding tongue
drooling
high-arched palate
macrostomia
more
Neurologic Behavioral Psychiatric Manifestations:
hyperactivity
paroxysmal bursts of laughter
repetitive, self-stimulatory behavior using upper limbs
fingers in mouth
self-absorbed

Growth Other:
growth retardation

Head And Neck Teeth:
widely-spaced upper incisors

Head And Neck Neck:
short neck (less common)

Genitourinary Bladder:
vesicoureteral reflux (less common)

Hematology:
absence of hb h inclusions in red blood cells


Clinical features from OMIM:

309580

Human phenotypes related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

32 (show top 50) (show all 67)
# Description HPO Frequency HPO Source Accession
1 malar flattening 32 HP:0000272
2 hypertelorism 32 HP:0000316
3 low-set ears 32 HP:0000369
4 short neck 32 HP:0000470
5 obesity 32 occasional (7.5%) HP:0001513
6 genu valgum 32 HP:0002857
7 high palate 32 HP:0000218
8 ptosis 32 HP:0000508
9 seizures 32 very rare (1%) HP:0001250
10 hyperreflexia 32 HP:0001347
11 constipation 32 HP:0002019
12 macroglossia 32 HP:0000158
13 coarse facial features 32 HP:0000280
14 delayed skeletal maturation 32 HP:0002750
15 depressed nasal bridge 32 HP:0005280
16 wide nasal bridge 32 HP:0000431
17 pes planus 32 HP:0001763
18 microtia 32 HP:0008551
19 microcephaly 32 HP:0000252
20 sensorineural hearing impairment 32 HP:0000407
21 anteverted nares 32 HP:0000463
22 optic atrophy 32 HP:0000648
23 short stature 32 HP:0004322
24 gastroesophageal reflux 32 HP:0002020
25 vomiting 32 HP:0002013
26 intellectual disability, severe 32 HP:0010864
27 micrognathia 32 HP:0000347
28 thick lower lip vermilion 32 HP:0000179
29 epicanthus 32 HP:0000286
30 dolichocephaly 32 HP:0000268
31 cryptorchidism 32 HP:0000028
32 hypogonadism 32 HP:0000135
33 intellectual disability, progressive 32 HP:0006887
34 wide mouth 32 HP:0000154
35 hypospadias 32 HP:0000047
36 decreased testicular size 32 HP:0008734
37 open mouth 32 HP:0000194
38 upslanted palpebral fissure 32 HP:0000582
39 brachydactyly 32 HP:0001156
40 protruding tongue 32 HP:0010808
41 vesicoureteral reflux 32 HP:0000076
42 renal hypoplasia 32 HP:0000089
43 talipes equinovarus 32 HP:0001762
44 thin upper lip vermilion 32 HP:0000219
45 midface retrusion 32 HP:0011800
46 slender finger 32 HP:0001238
47 tented upper lip vermilion 32 HP:0010804
48 abnormality of blood and blood-forming tissues 32 HP:0001871
49 tapered finger 32 HP:0001182
50 lower limb hypertonia 32 HP:0006895

UMLS symptoms related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:


constipation, vomiting

Drugs & Therapeutics for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Search Clinical Trials , NIH Clinical Center for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Genetic Tests for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Genetic tests related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

# Genetic test Affiliating Genes
1 Mental Retardation-Hypotonic Facies Syndrome X-Linked, 1 29 ATRX

Anatomical Context for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

MalaCards organs/tissues related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

41
Bone, Testes, Tongue

Publications for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Articles related to Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

# Title Authors Year
1
XNP mutation in a large family with Juberg-Marsidi syndrome. ( 8630485 )
1996
2
Juberg-Marsidi syndrome: report of an additional case. ( 8533845 )
1995
3
Lumping Juberg-Marsidi syndrome and X-linked alpha-thalassemia/mental retardation syndrome? ( 7726226 )
1995
4
The Juberg-Marsidi syndrome maps to the proximal long arm of the X chromosome (Xq12-q21). ( 8503439 )
1993

Variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

UniProtKB/Swiss-Prot genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

75
# Symbol AA change Variation ID SNP ID
1 ATRX p.Arg2131Gln VAR_001240
2 ATRX p.Ile2050Thr VAR_012127
3 ATRX p.Cys220Tyr VAR_032625
4 ATRX p.Leu409Ser VAR_032626
5 ATRX p.Arg2271Gly VAR_032627

ClinVar genetic disease variations for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh37 Chromosome X, 76814252: 76814252
2 ATRX NM_000489.4(ATRX): c.6392G> A (p.Arg2131Gln) single nucleotide variant Pathogenic rs122445101 GRCh38 Chromosome X, 77558781: 77558781
3 ATRX NM_000489.4(ATRX): c.5131C> T (p.Pro1711Ser) single nucleotide variant Pathogenic rs122445102 GRCh37 Chromosome X, 76888698: 76888698
4 ATRX NM_000489.4(ATRX): c.5131C> T (p.Pro1711Ser) single nucleotide variant Pathogenic rs122445102 GRCh38 Chromosome X, 77633210: 77633210
5 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Likely pathogenic rs122445103 GRCh37 Chromosome X, 76944337: 76944337
6 ATRX NM_000489.4(ATRX): c.568C> G (p.Pro190Ala) single nucleotide variant Likely pathogenic rs122445103 GRCh38 Chromosome X, 77688844: 77688844
7 ATRX ATRX, IVS34, A-G, -2 single nucleotide variant Pathogenic
8 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh37 Chromosome X, 76972632: 76972632
9 ATRX NM_000489.4(ATRX): c.109C> T (p.Arg37Ter) single nucleotide variant Pathogenic rs122445108 GRCh38 Chromosome X, 77717155: 77717155
10 ATRX NM_000489.4(ATRX): c.1226T> C (p.Leu409Ser) single nucleotide variant Pathogenic rs122445109 GRCh37 Chromosome X, 76939522: 76939522
11 ATRX NM_000489.4(ATRX): c.1226T> C (p.Leu409Ser) single nucleotide variant Pathogenic rs122445109 GRCh38 Chromosome X, 77684030: 77684030
12 ATRX NM_000489.4(ATRX): c.6149T> C (p.Ile2050Thr) single nucleotide variant Likely pathogenic rs122445110 GRCh37 Chromosome X, 76845372: 76845372
13 ATRX NM_000489.4(ATRX): c.6149T> C (p.Ile2050Thr) single nucleotide variant Likely pathogenic rs122445110 GRCh38 Chromosome X, 77589902: 77589902
14 ATRX NM_000489.4(ATRX): c.659G> A (p.Cys220Tyr) single nucleotide variant Pathogenic rs122445111 GRCh37 Chromosome X, 76940434: 76940434
15 ATRX NM_000489.4(ATRX): c.659G> A (p.Cys220Tyr) single nucleotide variant Pathogenic rs122445111 GRCh38 Chromosome X, 77684942: 77684942
16 ATRX NM_000489.4(ATRX): c.6811A> G (p.Arg2271Gly) single nucleotide variant Pathogenic rs122445112 GRCh37 Chromosome X, 76778768: 76778768
17 ATRX NM_000489.4(ATRX): c.6811A> G (p.Arg2271Gly) single nucleotide variant Pathogenic rs122445112 GRCh38 Chromosome X, 77523290: 77523290
18 ATRX NM_000489.4(ATRX): c.1423C> T (p.His475Tyr) single nucleotide variant Uncertain significance rs146863015 GRCh37 Chromosome X, 76939325: 76939325
19 ATRX NM_000489.4(ATRX): c.1423C> T (p.His475Tyr) single nucleotide variant Uncertain significance rs146863015 GRCh38 Chromosome X, 77683833: 77683833
20 ATRX NM_000489.4(ATRX): c.2150C> T (p.Pro717Leu) single nucleotide variant Uncertain significance rs372617572 GRCh37 Chromosome X, 76938598: 76938598
21 ATRX NM_000489.4(ATRX): c.2150C> T (p.Pro717Leu) single nucleotide variant Uncertain significance rs372617572 GRCh38 Chromosome X, 77683106: 77683106
22 NC_000009.11: g.76940012C> T single nucleotide variant not provided GRCh37 Chromosome 9, 76940012: 76940012

Expression for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Search GEO for disease gene expression data for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1.

Pathways for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

GO Terms for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

Sources for Mental Retardation-Hypotonic Facies Syndrome, X-Linked, 1

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