MRXSHD
MCID: INT371
MIFTS: 20

Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type (MRXSHD)

Categories: Genetic diseases, Mental diseases, Neuronal diseases

Aliases & Classifications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

MalaCards integrated aliases for Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type:

Name: Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type 56 6
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackman-Di Donato Type 56 73
Mental Retardation, X-Linked, with Marfanoid Habitus, 2 56 73
Mrxshd 56 73

Characteristics:

OMIM:

56
Miscellaneous:
onset in infancy
de novo mutation (in some patients)
some mutations are maternally inherited

Inheritance:
x-linked recessive


HPO:

31
intellectual developmental disorder, x-linked, syndromic, hackmann-di donato type:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Intellectual Developmental Disorder, X-Linked, Syndromic,...

OMIM : 56 Hackmann-Di Donato-type X-linked syndromic intellectual developmental disorder (MRXSHD) is an X-linked recessive phenotype characterized by global developmental delay with hypotonia, delayed speech, and mildly delayed walking associated with somatic marfanoid features, including tall stature, long fingers, and mildly dysmorphic facies. Some patients may have cardiac defects, such as mitral valve regurgitation, as well as other anomalies related to connective tissue defects, such as scoliosis (summary by Fiordaliso et al., 2019). (301039)

MalaCards based summary : Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type, is also known as intellectual developmental disorder, x-linked, syndromic, hackman-di donato type. An important gene associated with Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type is NKAP (NFKB Activating Protein). Related phenotypes are global developmental delay and muscular hypotonia

UniProtKB/Swiss-Prot : 73 Intellectual developmental disorder, X-linked, syndromic, Hackman-Di Donato type: An X-linked recessive disorder characterized by impaired intellectual development, global developmental delay, hypotonia, joint contractures, behavioral abnormalities, Marfanoid habitus, scoliosis, and mildly dysmorphic facies.

Related Diseases for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Symptoms & Phenotypes for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Human phenotypes related to Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type:

31 (show all 23)
# Description HPO Frequency HPO Source Accession
1 global developmental delay 31 very rare (1%) HP:0001263
2 muscular hypotonia 31 very rare (1%) HP:0001252
3 scoliosis 31 very rare (1%) HP:0002650
4 pectus carinatum 31 very rare (1%) HP:0000768
5 cryptorchidism 31 very rare (1%) HP:0000028
6 pectus excavatum 31 very rare (1%) HP:0000767
7 atrial septal defect 31 very rare (1%) HP:0001631
8 joint laxity 31 very rare (1%) HP:0001388
9 talipes equinovarus 31 very rare (1%) HP:0001762
10 mitral regurgitation 31 very rare (1%) HP:0001653
11 arachnodactyly 31 very rare (1%) HP:0001166
12 disproportionate tall stature 31 very rare (1%) HP:0001519
13 open mouth 31 very rare (1%) HP:0000194
14 long face 31 very rare (1%) HP:0000276
15 protruding ear 31 very rare (1%) HP:0000411
16 short philtrum 31 very rare (1%) HP:0000322
17 ventricular septal defect 31 very rare (1%) HP:0001629
18 midface retrusion 31 very rare (1%) HP:0011800
19 aortic root aneurysm 31 very rare (1%) HP:0002616
20 camptodactyly 31 very rare (1%) HP:0012385
21 abdominal obesity 31 very rare (1%) HP:0012743
22 attention deficit hyperactivity disorder 31 HP:0007018
23 aggressive behavior 31 HP:0000718

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
global developmental delay
hypotonia
speech delay
delayed walking
impaired intellectual development

Chest External Features:
pectus carinatum
pectus excavatum

Genitourinary Internal Genitalia Male:
cryptorchidism

Skeletal:
joint laxity

Skeletal Hands:
arachnodactyly
camptodactyly
finger joint contractures

Genitourinary External Genitalia Male:
micropenis
hypospadias

Muscle Soft Tissue:
hypotonia

Neurologic Behavioral Psychiatric Manifestations:
aggression
adhd

Skeletal Limbs:
slender limbs

Skeletal Spine:
scoliosis

Head And Neck Face:
prominent forehead
long face
short philtrum
midface hypoplasia

Cardiovascular Heart:
atrial septal defect
patent ductus arteriosus
ventricular septal defect
aortic dilatation
mitral valve regurgitation
more
Skeletal Feet:
talipes equinovarus
flat feet

Head And Neck Mouth:
open mouth
high-arched palate

Growth Height:
tall stature

Head And Neck Eyes:
epicanthal folds
hyperopia

Head And Neck Ears:
protruding ears

Growth Weight:
central obesity (in some patients)

Clinical features from OMIM:

301039

Drugs & Therapeutics for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search Clinical Trials , NIH Clinical Center for Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type

Genetic Tests for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Anatomical Context for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Publications for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Articles related to Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type:

# Title Authors PMID Year
1
Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment. 56 6
31587868 2019
2
Tentative clinical diagnosis of Lujan-Fryns syndrome--A conglomeration of different genetic entities? 56 6
26358559 2016

Variations for Intellectual Developmental Disorder, X-Linked, Syndromic,...

ClinVar genetic disease variations for Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type:

6 ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 NKAP NM_024528.4(NKAP):c.998G>A (p.Arg333Gln)SNV Pathogenic 827653 X:119064054-119064054 X:119930091-119930091
2 NKAP NM_024528.4(NKAP):c.988C>T (p.Arg330Cys)SNV Pathogenic 827654 X:119064064-119064064 X:119930101-119930101
3 NKAP NM_024528.4(NKAP):c.989G>A (p.Arg330His)SNV Pathogenic 827655 X:119064063-119064063 X:119930100-119930100
4 NKAP NM_024528.4(NKAP):c.1010T>C (p.Ile337Thr)SNV Pathogenic 827656 X:119064042-119064042 X:119930079-119930079
5 NKAP NM_024528.4(NKAP):c.1082G>A (p.Arg361Gln)SNV Pathogenic 827657 X:119059349-119059349 X:119925386-119925386

Expression for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Search GEO for disease gene expression data for Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type.

Pathways for Intellectual Developmental Disorder, X-Linked, Syndromic,...

GO Terms for Intellectual Developmental Disorder, X-Linked, Syndromic,...

Sources for Intellectual Developmental Disorder, X-Linked, Syndromic,...

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68 SNOMED-CT via HPO
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