MRD25
MCID: XGB001
MIFTS: 31

Xia-Gibbs Syndrome (MRD25)

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

Aliases & Classifications for Xia-Gibbs Syndrome

MalaCards integrated aliases for Xia-Gibbs Syndrome:

Name: Xia-Gibbs Syndrome 58 12 54 26 60 76 30 6 15 74
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome 54 26 60 17
Mrd25 58 12 76
Autosomal Dominant Intellectual Disability 25 54 26
Mental Retardation, Autosomal Dominant 25 58 76
Mental Retardation, Autosomal Dominant 25; Mrd25 58
Autosomal Dominant Mental Retardation 25 12
Xgs 26

Characteristics:

Orphanet epidemiological data:

60
ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant

Miscellaneous:
four unrelated patients have been reported (last curated june 2014)
all reported mutations have occurred de novo


HPO:

33
xia-gibbs syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 60  
Rare neurological diseases


Summaries for Xia-Gibbs Syndrome

NIH Rare Diseases : 54 Xia-Gibbs syndrome is a rare disorder of intellectual disability. People with this syndrome usually present with developmental delay (especially delays in speech), low muscule tone (hypotonia), failure to thrive, mildly unusual facialĀ  features (broad forehead, widely-spaced eyes (hypertelorism), big and low-set ears, flat nasal bridge, and thin upper lip), and breathing difficulties when sleeping (sleep apnea). The sleep apnea may be due to a collapse of the airway when breathing (tracheomalacia). Other signs and symptoms may include autistic features, seizures, lack of coordination (ataxia), behavioral problems, crossed-eyes (strabismus), and an abnormal lateral curvature of the spine (scoliosis). Males usually have more severe symptoms than females. Brain MRI may show several structural brain defects, such as thinning of the corpus callosum and posterior fossa cysts. Xia-Gibbs syndrome is caused by variants (mutations) in the AHDC1 gene. Inheritance is autosomal dominant but all reported cases to date have been due to new mutations (de novo), in individuals with no family history. Treatment and management is supportive, and ideally, should involve several specialists. This may include careful monitoring of the airways, continuous positive airway pressure at night, frequent growth assessments, physical therapy and early interventions to maximize developmental potential.

MalaCards based summary : Xia-Gibbs Syndrome, also known as ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, is related to neuroblastoma and craniosynostosis, and has symptoms including snoring An important gene associated with Xia-Gibbs Syndrome is AHDC1 (AT-Hook DNA Binding Motif Containing 1). Affiliated tissues include brain and eye, and related phenotypes are retrocerebellar cyst and hypertelorism

Disease Ontology : 12 An autosomal dominant non-syndromic intellectual disability that has material basis in an autosomal dominant mutation of AHDC1 on chromosome 1p36.1-p35.3.

Genetics Home Reference : 26 Xia-Gibbs syndrome is a neurological disorder characterized by weak muscle tone (hypotonia), mild to severe intellectual disability and delayed development. Expressive language skills (vocabulary and the production of speech) are particularly affected; children with this condition usually do not speak their first word, a milestone typically achieved within the first year, until age two or later, and some never learn to talk. Development of motor skills, such as crawling and walking, can also be delayed.

UniProtKB/Swiss-Prot : 76 Mental retardation, autosomal dominant 25: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD25 additional features include mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination.

Wikipedia : 77 Xia-Gibbs Syndrome, is a newly discovered genetic disorder caused by a heterozygous mutation in the... more...

Description from OMIM: 615829

Related Diseases for Xia-Gibbs Syndrome

Graphical network of the top 20 diseases related to Xia-Gibbs Syndrome:



Diseases related to Xia-Gibbs Syndrome

Symptoms & Phenotypes for Xia-Gibbs Syndrome

Human phenotypes related to Xia-Gibbs Syndrome:

33 (show all 19)
# Description HPO Frequency HPO Source Accession
1 retrocerebellar cyst 33 occasional (7.5%) HP:0006951
2 hypertelorism 33 HP:0000316
3 low-set ears 33 HP:0000369
4 intellectual disability 33 HP:0001249
5 failure to thrive 33 HP:0001508
6 global developmental delay 33 HP:0001263
7 depressed nasal bridge 33 HP:0005280
8 laryngomalacia 33 HP:0001601
9 micrognathia 33 HP:0000347
10 downslanted palpebral fissures 33 HP:0000494
11 upslanted palpebral fissure 33 HP:0000582
12 obstructive sleep apnea 33 HP:0002870
13 generalized hypotonia 33 HP:0001290
14 hypoplasia of the corpus callosum 33 HP:0002079
15 esotropia 33 HP:0000565
16 snoring 33 HP:0025267
17 uplifted earlobe 33 HP:0009909
18 cortical gyral simplification 33 HP:0009879
19 delayed myelination 33 HP:0012448

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Eyes:
hypertelorism
esotropia
downslanting palpebral fissures
upslanting palpebral fissures

Growth Other:
failure to thrive

Head And Neck Face:
micrognathia

Neurologic Central Nervous System:
hypoplasia of the corpus callosum
delayed myelination
mental retardation
delayed psychomotor development
simplified gyral pattern
more
Head And Neck Nose:
flat nasal bridge

Head And Neck Ears:
low-set ears
protuberant ears
upturned earlobes

Respiratory Larynx:
laryngomalacia

Respiratory:
obstructive sleep apnea
snoring

Muscle Soft Tissue:
hypotonia

Clinical features from OMIM:

615829

UMLS symptoms related to Xia-Gibbs Syndrome:


snoring

Drugs & Therapeutics for Xia-Gibbs Syndrome

Search Clinical Trials , NIH Clinical Center for Xia-Gibbs Syndrome

Genetic Tests for Xia-Gibbs Syndrome

Genetic tests related to Xia-Gibbs Syndrome:

# Genetic test Affiliating Genes
1 Xia-Gibbs Syndrome 30 AHDC1

Anatomical Context for Xia-Gibbs Syndrome

MalaCards organs/tissues related to Xia-Gibbs Syndrome:

42
Brain, Eye

Publications for Xia-Gibbs Syndrome

Articles related to Xia-Gibbs Syndrome:

# Title Authors Year
1
Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. ( 30858058 )
2019
2
Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. ( 30729726 )
2019
3
Whole-Exome Sequencing Identifies a de novo <i>AHDC1</i> Mutation in a Colombian Patient with Xia-Gibbs Syndrome. ( 29230160 )
2017

Variations for Xia-Gibbs Syndrome

ClinVar genetic disease variations for Xia-Gibbs Syndrome:

6 (show all 30)
# Gene Variation Type Significance SNP ID Assembly Location
1 AHDC1 NM_001029882.3(AHDC1): c.2373_2374delTG (p.Cys791Trpfs) deletion Pathogenic rs587779766 GRCh37 Chromosome 1, 27876253: 27876254
2 AHDC1 NM_001029882.3(AHDC1): c.2373_2374delTG (p.Cys791Trpfs) deletion Pathogenic rs587779766 GRCh38 Chromosome 1, 27549742: 27549743
3 AHDC1 NM_001029882.3(AHDC1): c.2898delC (p.Tyr967Thrfs) deletion Pathogenic rs587779767 GRCh37 Chromosome 1, 27875729: 27875729
4 AHDC1 NM_001029882.3(AHDC1): c.2898delC (p.Tyr967Thrfs) deletion Pathogenic rs587779767 GRCh38 Chromosome 1, 27549218: 27549218
5 AHDC1 NM_001029882.3(AHDC1): c.2547delC (p.Ser850Profs) deletion Pathogenic rs587779768 GRCh37 Chromosome 1, 27876080: 27876080
6 AHDC1 NM_001029882.3(AHDC1): c.2547delC (p.Ser850Profs) deletion Pathogenic rs587779768 GRCh38 Chromosome 1, 27549569: 27549569
7 AHDC1 NM_001029882.3(AHDC1): c.2229delG (p.Ser744Profs) deletion Pathogenic rs886039900 GRCh37 Chromosome 1, 27876398: 27876398
8 AHDC1 NM_001029882.3(AHDC1): c.2229delG (p.Ser744Profs) deletion Pathogenic rs886039900 GRCh38 Chromosome 1, 27549887: 27549887
9 AHDC1 NM_001029882.3(AHDC1): c.3814C> T (p.Arg1272Ter) single nucleotide variant Pathogenic rs1135401761 GRCh37 Chromosome 1, 27874813: 27874813
10 AHDC1 NM_001029882.3(AHDC1): c.3814C> T (p.Arg1272Ter) single nucleotide variant Pathogenic rs1135401761 GRCh38 Chromosome 1, 27548302: 27548302
11 AHDC1 NM_001029882.3(AHDC1): c.337A> T (p.Asn113Tyr) single nucleotide variant Uncertain significance rs1135401946 GRCh38 Chromosome 1, 27551779: 27551779
12 AHDC1 NM_001029882.3(AHDC1): c.337A> T (p.Asn113Tyr) single nucleotide variant Uncertain significance rs1135401946 GRCh37 Chromosome 1, 27878290: 27878290
13 AHDC1 NM_001029882.3(AHDC1): c.2062C> T (p.Arg688Ter) single nucleotide variant Likely pathogenic rs1165205177 GRCh38 Chromosome 1, 27550054: 27550054
14 AHDC1 NM_001029882.3(AHDC1): c.2062C> T (p.Arg688Ter) single nucleotide variant Likely pathogenic rs1165205177 GRCh37 Chromosome 1, 27876565: 27876565
15 AHDC1 NM_001029882.3(AHDC1): c.1519A> T (p.Lys507Ter) single nucleotide variant Pathogenic rs1553159383 GRCh37 Chromosome 1, 27877108: 27877108
16 AHDC1 NM_001029882.3(AHDC1): c.1519A> T (p.Lys507Ter) single nucleotide variant Pathogenic rs1553159383 GRCh38 Chromosome 1, 27550597: 27550597
17 AHDC1 NM_001029882.3(AHDC1): c.932delG (p.Gly311Alafs) deletion Likely pathogenic rs1553159764 GRCh37 Chromosome 1, 27877695: 27877695
18 AHDC1 NM_001029882.3(AHDC1): c.932delG (p.Gly311Alafs) deletion Likely pathogenic rs1553159764 GRCh38 Chromosome 1, 27551184: 27551184
19 AHDC1 NM_001029882.3(AHDC1): c.3168_3169del (p.Cys1056Terfs) deletion Likely pathogenic rs1553158517 GRCh37 Chromosome 1, 27875458: 27875459
20 AHDC1 NM_001029882.3(AHDC1): c.3168_3169del (p.Cys1056Terfs) deletion Likely pathogenic rs1553158517 GRCh38 Chromosome 1, 27548947: 27548948
21 AHDC1 NM_001029882.3(AHDC1): c.3692C> T (p.Pro1231Leu) single nucleotide variant Uncertain significance rs559597076 GRCh37 Chromosome 1, 27874935: 27874935
22 AHDC1 NM_001029882.3(AHDC1): c.3692C> T (p.Pro1231Leu) single nucleotide variant Uncertain significance rs559597076 GRCh38 Chromosome 1, 27548424: 27548424
23 AHDC1 NM_001029882.3(AHDC1): c.3497C> G (p.Ser1166Ter) single nucleotide variant Pathogenic rs1553158393 GRCh38 Chromosome 1, 27548619: 27548619
24 AHDC1 NM_001029882.3(AHDC1): c.3497C> G (p.Ser1166Ter) single nucleotide variant Pathogenic rs1553158393 GRCh37 Chromosome 1, 27875130: 27875130
25 AHDC1 NM_001029882.3(AHDC1): c.550delG (p.Ala184Profs) deletion Pathogenic rs1553159979 GRCh38 Chromosome 1, 27551566: 27551566
26 AHDC1 NM_001029882.3(AHDC1): c.550delG (p.Ala184Profs) deletion Pathogenic rs1553159979 GRCh37 Chromosome 1, 27878077: 27878077
27 AHDC1 NM_001029882.3(AHDC1): c.4370A> G (p.Asp1457Gly) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 27874257: 27874257
28 AHDC1 NM_001029882.3(AHDC1): c.4370A> G (p.Asp1457Gly) single nucleotide variant Likely pathogenic GRCh38 Chromosome 1, 27547746: 27547746
29 AHDC1 NM_001029882.3(AHDC1): c.2032C> T (p.Arg678Trp) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 27550084: 27550084
30 AHDC1 NM_001029882.3(AHDC1): c.2032C> T (p.Arg678Trp) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 27876595: 27876595

Expression for Xia-Gibbs Syndrome

Search GEO for disease gene expression data for Xia-Gibbs Syndrome.

Pathways for Xia-Gibbs Syndrome

GO Terms for Xia-Gibbs Syndrome

Sources for Xia-Gibbs Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
Content
Loading form....