MCID: XGB001
MIFTS: 21

Xia-Gibbs Syndrome

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

Aliases & Classifications for Xia-Gibbs Syndrome

MalaCards integrated aliases for Xia-Gibbs Syndrome:

Name: Xia-Gibbs Syndrome 57 12 59 75 29 6 73
Mrd25 57 12 75
Mental Retardation, Autosomal Dominant 25 57 75
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome 59
Mental Retardation, Autosomal Dominant 25; Mrd25 57
Autosomal Dominant Mental Retardation 25 12

Characteristics:

Orphanet epidemiological data:

59
ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant

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


HPO:

32
xia-gibbs syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Xia-Gibbs Syndrome

UniProtKB/Swiss-Prot : 75 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.

MalaCards based summary : Xia-Gibbs Syndrome, is also known as mrd25, and has symptoms including snoring An important gene associated with Xia-Gibbs Syndrome is AHDC1 (AT-Hook DNA Binding Motif Containing 1). Related phenotypes are hypertelorism and low-set ears

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.

Wikipedia : 76 Xia-Gibbs Syndrome, also known as AHDC1-related intellectual disability-obstructive sleep apnea-mild... more...

Description from OMIM: 615829

Related Diseases for Xia-Gibbs Syndrome

Symptoms & Phenotypes for Xia-Gibbs Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Xia-Gibbs Syndrome:

32 (show all 19)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 low-set ears 32 HP:0000369
3 intellectual disability 32 HP:0001249
4 failure to thrive 32 HP:0001508
5 global developmental delay 32 HP:0001263
6 depressed nasal bridge 32 HP:0005280
7 laryngomalacia 32 HP:0001601
8 micrognathia 32 HP:0000347
9 downslanted palpebral fissures 32 HP:0000494
10 upslanted palpebral fissure 32 HP:0000582
11 obstructive sleep apnea 32 HP:0002870
12 hypoplasia of the corpus callosum 32 HP:0002079
13 generalized hypotonia 32 HP:0001290
14 esotropia 32 HP:0000565
15 retrocerebellar cyst 32 occasional (7.5%) HP:0006951
16 uplifted earlobe 32 HP:0009909
17 cortical gyral simplification 32 HP:0009879
18 delayed myelination 32 HP:0012448
19 snoring 32 HP:0025267

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 29 AHDC1

Anatomical Context for Xia-Gibbs Syndrome

Publications for Xia-Gibbs Syndrome

Articles related to Xia-Gibbs Syndrome:

# Title Authors Year
1
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 18)
# 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 GRCh38 Chromosome 1, 27550054: 27550054
14 AHDC1 NM_001029882.3(AHDC1): c.2062C> T (p.Arg688Ter) single nucleotide variant Likely pathogenic GRCh37 Chromosome 1, 27876565: 27876565
15 AHDC1 NM_001029882.3(AHDC1): c.1519A> T (p.Lys507Ter) single nucleotide variant Pathogenic GRCh37 Chromosome 1, 27877108: 27877108
16 AHDC1 NM_001029882.3(AHDC1): c.1519A> T (p.Lys507Ter) single nucleotide variant Pathogenic GRCh38 Chromosome 1, 27550597: 27550597
17 AHDC1 NM_001029882.3(AHDC1): c.932delG (p.Gly311Alafs) deletion Likely pathogenic GRCh37 Chromosome 1, 27877695: 27877695
18 AHDC1 NM_001029882.3(AHDC1): c.932delG (p.Gly311Alafs) deletion Likely pathogenic GRCh38 Chromosome 1, 27551184: 27551184

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 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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