XIGIS
MCID: XGB001
MIFTS: 44

Xia-Gibbs Syndrome (XIGIS)

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 57 12 20 43 58 72 29 6 15 70
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome 20 43 58 17
Autosomal Dominant Intellectual Disability 25 20 43
Xigis 57 72
Mrd25 12 72
Mental Retardation, Autosomal Dominant 25, Formerly; Mrd25, Formerly 57
Mental Retardation, Autosomal Dominant 25, Formerly 57
Mental Retardation, Autosomal Dominant 25 72
Autosomal Dominant Mental Retardation 25 12
Mrd25, Formerly 57
Xgs 43

Characteristics:

Orphanet epidemiological data:

58
ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant

Miscellaneous:
de novo mutation


HPO:

31
xia-gibbs syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Xia-Gibbs Syndrome

MedlinePlus Genetics : 43 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.Other signs and symptoms of Xia-Gibbs syndrome vary among affected individuals. Additional neurological features include poor coordination and balance (ataxia) and seizures. Feeding problems and sleep abnormalities can also occur in people with the condition, and many affected individuals experience short pauses in breathing while they sleep (obstructive sleep apnea). In some people with Xia-Gibbs syndrome, imaging tests of the brain show abnormalities in the brain's structure. For example, the tissue connecting the left and right halves of the brain (the corpus callosum) can be abnormally thin.Xia-Gibbs syndrome can also affect physical development. Growth is usually impaired, and many affected individuals are shorter than their peers. Side-to-side curvature of the spine (scoliosis) is also a common feature. Some people with Xia-Gibbs syndrome have unusual facial features, such as a broad forehead, low-set ears or ears that stick out, widely space eyes (hypertelorism), eye openings that slant up or down (upslanting palpebral fissures or downslanting palpebral fissures), a flat bridge of the nose, or a thin upper lip. Other, less-common abnormalities involving the bones and skin include premature fusion of certain skull bones (craniosynostosis), unusually loose (lax) joints, and loose skin.Behavior problems can also occur in Xia-Gibbs syndrome. Some affected individuals have features of autism spectrum disorder, which is characterized by impaired communication and social interactions, or of attention-deficit/hyperactivity disorder (ADHD). Other problems can include aggression, anxiety, poor impulse control, and self-injury.

MalaCards based summary : Xia-Gibbs Syndrome, also known as ahdc1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome, is related to hypotonia and alacrima, achalasia, and mental retardation syndrome, and has symptoms including snoring An important gene associated with Xia-Gibbs Syndrome is AHDC1 (AT-Hook DNA Binding Motif Containing 1), and among its related pathways/superpathways are ECM-receptor interaction and Amoebiasis. Affiliated tissues include eye and brain, and related phenotypes are intellectual disability and global developmental delay

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.

GARD : 20 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 facial 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.

OMIM® : 57 Xia-Gibbs syndrome (XIGIS) is characterized by impaired intellectual development with absent or poor expressive language, obstructive sleep apnea, mild dysmorphic features, and brain abnormalities (Xia et al., 2014). Patients with XIGIS can have a broad clinical spectrum with multisystemic involvement in addition to neurologic manifestation (Ritter et al., 2018). (615829) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Xia-Gibbs syndrome: An autosomal dominant disorder characterized by intellectual disability, mild dysmorphism, hypotonia, delayed psychomotor development with absent or poor expressive language, hypoplasia of the corpus callosum, simplified gyral pattern, and delayed myelination.

Wikipedia : 73 Xia-Gibbs Syndrome, is a newly discovered genetic disorder caused by a heterozygous mutation in the... more...

Related Diseases for Xia-Gibbs Syndrome

Diseases related to Xia-Gibbs Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 41)
# Related Disease Score Top Affiliating Genes
1 hypotonia 10.6
2 alacrima, achalasia, and mental retardation syndrome 10.5
3 sleep apnea 10.4
4 scoliosis 10.3
5 craniosynostosis 10.3
6 hypertelorism 10.1
7 laryngomalacia 10.1
8 lipomatosis, multiple 10.1
9 strabismus 10.1
10 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
11 global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies 10.1
12 west syndrome 10.1
13 autism spectrum disorder 10.1
14 ptosis 10.1
15 autosomal dominant non-syndromic intellectual disability 10.1
16 rasopathy 10.1
17 sensorineural hearing loss 10.1
18 pleomorphic lipoma 10.1
19 constipation 10.1
20 mechanical strabismus 10.1
21 mitochondrial disorders 10.1
22 growth hormone deficiency 10.1
23 tremor 10.1
24 alport syndrome 1, x-linked 9.8 COL4A5 COL4A4
25 alport syndrome 9.8 COL4A5 COL4A4
26 anti-basement membrane glomerulonephritis 9.8 COL4A5 COL4A4
27 x-linked alport syndrome 9.8 COL4A5 COL4A4
28 autoimmune disease of urogenital tract 9.8 COL4A5 COL4A4
29 pierson syndrome 9.8 COL4A5 COL4A4
30 autosomal dominant alport syndrome 9.8 COL4A5 COL4A4
31 goodpasture syndrome 9.8 COL4A5 COL4A4
32 autosomal recessive alport syndrome 9.8 COL4A5 COL4A4
33 proteinuria, chronic benign 9.8 COL4A5 COL4A4
34 familial nephrotic syndrome 9.7 COL4A5 COL4A4
35 porencephaly 9.7 COL4A5 COL4A4
36 leiomyomatosis 9.7 COL4A5 COL4A4
37 auditory system disease 9.7 COL4A5 COL4A4
38 inner ear disease 9.7 COL4A5 COL4A4
39 hematuria, benign familial 9.6 COL4A5 COL4A4
40 stickler syndrome 9.6 COL4A5 COL4A4
41 end stage renal disease 9.5 COL4A5 COL4A4

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:

58 31 (show all 49)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
3 hypotonia 31 hallmark (90%) HP:0001252
4 failure to thrive 58 31 frequent (33%) Frequent (79-30%) HP:0001508
5 ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0001251
6 abnormal facial shape 58 31 frequent (33%) Frequent (79-30%) HP:0001999
7 joint laxity 58 31 frequent (33%) Frequent (79-30%) HP:0001388
8 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
9 upper airway obstruction 58 31 frequent (33%) Frequent (79-30%) HP:0002781
10 obstructive sleep apnea 58 31 frequent (33%) Frequent (79-30%) HP:0002870
11 expressive language delay 58 31 frequent (33%) Frequent (79-30%) HP:0002474
12 delayed ability to walk 58 31 frequent (33%) Frequent (79-30%) HP:0031936
13 upbeat nystagmus 58 31 frequent (33%) Frequent (79-30%) HP:0011477
14 seizure 31 frequent (33%) HP:0001250
15 eeg abnormality 58 31 occasional (7.5%) Occasional (29-5%) HP:0002353
16 scoliosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002650
17 hearing impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0000365
18 depressed nasal bridge 58 31 occasional (7.5%) Occasional (29-5%) HP:0005280
19 hypertelorism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000316
20 autism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000717
21 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
22 low-set ears 58 31 occasional (7.5%) Occasional (29-5%) HP:0000369
23 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
24 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
25 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
26 protruding ear 58 31 occasional (7.5%) Occasional (29-5%) HP:0000411
27 deeply set eye 58 31 occasional (7.5%) Occasional (29-5%) HP:0000490
28 small earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0000385
29 craniosynostosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0001363
30 tracheomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002779
31 hypoplasia of the corpus callosum 58 31 occasional (7.5%) Occasional (29-5%) HP:0002079
32 respiratory failure requiring assisted ventilation 58 31 occasional (7.5%) Occasional (29-5%) HP:0004887
33 cerebral visual impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100704
34 esotropia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000565
35 uplifted earlobe 58 31 occasional (7.5%) Occasional (29-5%) HP:0009909
36 retrocerebellar cyst 58 31 occasional (7.5%) Occasional (29-5%) HP:0006951
37 delayed myelination 58 31 occasional (7.5%) Occasional (29-5%) HP:0012448
38 snoring 58 31 occasional (7.5%) Occasional (29-5%) HP:0025267
39 mild myopia 58 31 occasional (7.5%) Occasional (29-5%) HP:0025573
40 seizures 58 Frequent (79-30%)
41 muscular hypotonia 58 Very frequent (99-80%)
42 delayed speech and language development 58 Very frequent (99-80%)
43 strabismus 58 Frequent (79-30%)
44 motor delay 58 Very frequent (99-80%)
45 abnormality of the vertebral column 58 Frequent (79-30%)
46 generalized hypotonia 31 HP:0001290
47 abnormal corpus callosum morphology 58 Frequent (79-30%)
48 abnormality of brain morphology 58 Frequent (79-30%)
49 simplified gyral pattern 31 HP:0009879

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Growth Other:
failure to thrive

Head And Neck Eyes:
hypertelorism
esotropia
downslanting palpebral fissures
upslanting palpebral fissures
almond shaped eyes
more
Head And Neck Ears:
low-set ears
protuberant ears
upturned earlobes

Respiratory Larynx:
laryngomalacia

Neurologic Central Nervous System:
hypoplasia of the corpus callosum
delayed myelination
simplified gyral pattern
mental retardation
delayed psychomotor development
more
Muscle Soft Tissue:
hypotonia

Cardiovascular Heart:
atrial septal defect (rare)
bicuspid aortic valve (rare)

Skeletal Spine:
scoliosis

Head And Neck Face:
micrognathia

Skeletal:
joint laxity

Skeletal Skull:
craniosynostosis

Respiratory:
obstructive sleep apnea
snoring

Head And Neck Nose:
flat nasal bridge

Neurologic Behavioral Psychiatric Manifestations:
autism (in some patients)

Clinical features from OMIM®:

615829 (Updated 20-May-2021)

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

MalaCards organs/tissues related to Xia-Gibbs Syndrome:

40
Eye, Brain

Publications for Xia-Gibbs Syndrome

Articles related to Xia-Gibbs Syndrome:

(show all 20)
# Title Authors PMID 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. 57 6 61
30858058 2020
2
Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome. 57 61 6
29230160 2017
3
De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. 57 6
27148574 2015
4
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. 57 6
24791903 2014
5
Clinical presentation and evolution of Xia-Gibbs syndrome due to p.Gly375ArgfsTer3 variant in a patient from DR Congo (Central Africa). 6 61
33372375 2021
6
Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital. 61 57
30152016 2018
7
The phenotypic spectrum of Xia-Gibbs syndrome. 61 20
29696776 2018
8
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. 6
25741868 2015
9
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome. 61
33644933 2021
10
Atypical aplasia cutis in association with Xia Gibbs syndrome. 61
33464633 2021
11
Xia-Gibbs Syndrome: A Review of Literature. 61
33520547 2020
12
Xia-Gibbs Syndrome: A Rare Case Report of a Male Child and Insight into Physiotherapy Management. 61
32923223 2020
13
Xia-Gibbs Syndrome: A Psychiatric Perspective. 61
32816441 2020
14
Novel AHDC1 Gene Mutation in a Brazilian Individual: Implications of Xia-Gibbs Syndrome. 61
32256298 2020
15
Recurrent hypoplasia of corpus callosum as a prenatal phenotype of Xia-Gibbs syndrome caused by maternal germline mosaicism of an AHDC1 variant. 61
31812316 2020
16
Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder. 61
30615951 2020
17
Exome-Based Rare-Variant Analyses in CKD. 61
31085678 2019
18
Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. 61
30622101 2019
19
Syndromic Intellectual Disability Caused by a Novel Truncating Variant in AHDC1: A Case Report. 61
31182893 2019
20
Two Chinese Xia-Gibbs syndrome patients with partial growth hormone deficiency. 61
30729726 2019

Variations for Xia-Gibbs Syndrome

ClinVar genetic disease variations for Xia-Gibbs Syndrome:

6 (show top 50) (show all 52)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 AHDC1 NM_001029882.3(AHDC1):c.3814C>T (p.Arg1272Ter) SNV Pathogenic 431102 rs1135401761 GRCh37: 1:27874813-27874813
GRCh38: 1:27548302-27548302
2 AHDC1 NM_001029882.3(AHDC1):c.3497C>G (p.Ser1166Ter) SNV Pathogenic 559626 rs1553158393 GRCh37: 1:27875130-27875130
GRCh38: 1:27548619-27548619
3 AHDC1 NM_001029882.3(AHDC1):c.550del (p.Ala184fs) Deletion Pathogenic 559645 rs1553159979 GRCh37: 1:27878077-27878077
GRCh38: 1:27551566-27551566
4 AHDC1 NM_001371928.1(AHDC1):c.2948dup (p.Thr984fs) Duplication Pathogenic 638358 rs1571232632 GRCh37: 1:27875678-27875679
GRCh38: 1:27549167-27549168
5 AHDC1 NM_001371928.1(AHDC1):c.944dup (p.Ala316fs) Duplication Pathogenic 666567 rs1571242436 GRCh37: 1:27877682-27877683
GRCh38: 1:27551171-27551172
6 AHDC1 NM_001371928.1(AHDC1):c.2191_2194del (p.Val731fs) Deletion Pathogenic 801465 rs1571236369 GRCh37: 1:27876433-27876436
GRCh38: 1:27549922-27549925
7 AHDC1 NM_001371928.1(AHDC1):c.1758dup (p.Arg587fs) Duplication Pathogenic 816930 rs1064797043 GRCh37: 1:27876868-27876869
GRCh38: 1:27550357-27550358
8 AHDC1 NM_001371928.1(AHDC1):c.2365C>T (p.Arg789Ter) SNV Pathogenic 827795 rs1571235473 GRCh37: 1:27876262-27876262
GRCh38: 1:27549751-27549751
9 AHDC1 NM_001371928.1(AHDC1):c.4423del (p.Arg1475fs) Deletion Pathogenic 975330 GRCh37: 1:27874204-27874204
GRCh38: 1:27547693-27547693
10 AHDC1 NM_001371928.1(AHDC1):c.3185_3186del (p.Thr1062fs) Microsatellite Pathogenic 981198 GRCh37: 1:27875441-27875442
GRCh38: 1:27548930-27548931
11 AHDC1 NM_001371928.1(AHDC1):c.2030del (p.Gly677fs) Deletion Pathogenic 988002 GRCh37: 1:27876597-27876597
GRCh38: 1:27550086-27550086
12 AHDC1 NM_001371928.1(AHDC1):c.1448dup (p.Ser484fs) Duplication Pathogenic 975836 GRCh37: 1:27877178-27877179
GRCh38: 1:27550667-27550668
13 AHDC1 NM_001029882.3(AHDC1):c.1519A>T (p.Lys507Ter) SNV Pathogenic 488466 rs1553159383 GRCh37: 1:27877108-27877108
GRCh38: 1:27550597-27550597
14 AHDC1 NM_001371928.1(AHDC1):c.3623G>A (p.Trp1208Ter) SNV Pathogenic 807539 rs1571229515 GRCh37: 1:27875004-27875004
GRCh38: 1:27548493-27548493
15 AHDC1 NM_001029882.3(AHDC1):c.2229del (p.Ser744fs) Deletion Pathogenic 266028 rs886039900 GRCh37: 1:27876398-27876398
GRCh38: 1:27549887-27549887
16 AHDC1 NM_001371928.1(AHDC1):c.2188G>T (p.Glu730Ter) SNV Pathogenic 982055 GRCh37: 1:27876439-27876439
GRCh38: 1:27549928-27549928
17 AHDC1 NM_001029882.3(AHDC1):c.997del (p.Ala333fs) Deletion Pathogenic 632597 rs1557667078 GRCh37: 1:27877630-27877630
GRCh38: 1:27551119-27551119
18 AHDC1 NM_001029882.3(AHDC1):c.2371_2372TG[1] (p.Cys791fs) Microsatellite Pathogenic 133326 rs587779766 GRCh37: 1:27876253-27876254
GRCh38: 1:27549742-27549743
19 AHDC1 NM_001029882.3(AHDC1):c.2898del (p.Tyr967fs) Deletion Pathogenic 133327 rs587779767 GRCh37: 1:27875729-27875729
GRCh38: 1:27549218-27549218
20 AHDC1 NM_001029882.3(AHDC1):c.2547del (p.Ser850fs) Deletion Pathogenic 133328 rs587779768 GRCh37: 1:27876080-27876080
GRCh38: 1:27549569-27549569
21 AHDC1 NM_001029882.3(AHDC1):c.2773C>T (p.Arg925Ter) SNV Pathogenic 496678 rs777736953 GRCh37: 1:27875854-27875854
GRCh38: 1:27549343-27549343
22 AHDC1 NM_001371928.1(AHDC1):c.1125dup (p.Pro376fs) Duplication Pathogenic 1048789 GRCh37: 1:27877501-27877502
GRCh38: 1:27550990-27550991
23 AHDC1 NM_001371928.1(AHDC1):c.2424_2425dup (p.Gly809fs) Duplication Pathogenic 1064444 GRCh37: 1:27876201-27876202
GRCh38: 1:27549690-27549691
24 AHDC1 NM_001029882.3(AHDC1):c.2062C>T (p.Arg688Ter) SNV Pathogenic 438276 rs1165205177 GRCh37: 1:27876565-27876565
GRCh38: 1:27550054-27550054
25 AHDC1 NM_001371928.1(AHDC1):c.4370A>G (p.Asp1457Gly) SNV Pathogenic/Likely pathogenic 585204 rs1557655967 GRCh37: 1:27874257-27874257
GRCh38: 1:27547746-27547746
26 AHDC1 NM_001371928.1(AHDC1):c.2772del (p.Arg925fs) Deletion Likely pathogenic 981199 GRCh37: 1:27875855-27875855
GRCh38: 1:27549344-27549344
27 AHDC1 NM_001371928.1(AHDC1):c.994C>T (p.Gln332Ter) SNV Likely pathogenic 800800 rs1571242220 GRCh37: 1:27877633-27877633
GRCh38: 1:27551122-27551122
28 AHDC1 NM_001029882.3(AHDC1):c.932del (p.Gly311fs) Deletion Likely pathogenic 496674 rs1553159764 GRCh37: 1:27877695-27877695
GRCh38: 1:27551184-27551184
29 AHDC1 NM_001029882.3(AHDC1):c.3168_3169del Microsatellite Likely pathogenic 547873 rs1553158517 GRCh37: 1:27875458-27875459
GRCh38: 1:27548947-27548948
30 AHDC1 NM_001371928.1(AHDC1):c.3254_3256CCT[6] (p.Ser1091del) Microsatellite Conflicting interpretations of pathogenicity 774392 rs530256606 GRCh37: 1:27875353-27875355
GRCh38: 1:27548842-27548844
31 AHDC1 NM_001371928.1(AHDC1):c.1285C>G (p.Pro429Ala) SNV Uncertain significance 931766 GRCh37: 1:27877342-27877342
GRCh38: 1:27550831-27550831
32 AHDC1 NM_001371928.1(AHDC1):c.3547C>T (p.Arg1183Trp) SNV Uncertain significance 989291 GRCh37: 1:27875080-27875080
GRCh38: 1:27548569-27548569
33 AHDC1 NM_001029882.3(AHDC1):c.3692C>T (p.Pro1231Leu) SNV Uncertain significance 548580 rs559597076 GRCh37: 1:27874935-27874935
GRCh38: 1:27548424-27548424
34 AHDC1 NM_001371928.1(AHDC1):c.4679A>T (p.Gln1560Leu) SNV Uncertain significance 801463 rs1571224398 GRCh37: 1:27873948-27873948
GRCh38: 1:27547437-27547437
35 AHDC1 NM_001371928.1(AHDC1):c.4145C>T (p.Pro1382Leu) SNV Uncertain significance 996995 GRCh37: 1:27874482-27874482
GRCh38: 1:27547971-27547971
36 AHDC1 NM_001371928.1(AHDC1):c.803C>T (p.Ser268Leu) SNV Uncertain significance 813904 rs751818701 GRCh37: 1:27877824-27877824
GRCh38: 1:27551313-27551313
37 AHDC1 NM_001371928.1(AHDC1):c.2419G>C (p.Glu807Gln) SNV Uncertain significance 1030029 GRCh37: 1:27876208-27876208
GRCh38: 1:27549697-27549697
38 AHDC1 NM_001371928.1(AHDC1):c.2966G>T (p.Gly989Val) SNV Uncertain significance 1030030 GRCh37: 1:27875661-27875661
GRCh38: 1:27549150-27549150
39 AHDC1 NM_001371928.1(AHDC1):c.3155C>T (p.Thr1052Met) SNV Uncertain significance 1030031 GRCh37: 1:27875472-27875472
GRCh38: 1:27548961-27548961
40 AHDC1 NM_001371928.1(AHDC1):c.3539G>T (p.Gly1180Val) SNV Uncertain significance 1030032 GRCh37: 1:27875088-27875088
GRCh38: 1:27548577-27548577
41 AHDC1 NM_001371928.1(AHDC1):c.4562T>C (p.Met1521Thr) SNV Uncertain significance 1030033 GRCh37: 1:27874065-27874065
GRCh38: 1:27547554-27547554
42 AHDC1 NM_001371928.1(AHDC1):c.724G>A (p.Ala242Thr) SNV Uncertain significance 1030976 GRCh37: 1:27877903-27877903
GRCh38: 1:27551392-27551392
43 AHDC1 NM_001371928.1(AHDC1):c.85C>A (p.Pro29Thr) SNV Uncertain significance 1030977 GRCh37: 1:27878542-27878542
GRCh38: 1:27552031-27552031
44 AHDC1 NM_001029882.3(AHDC1):c.2032C>T (p.Arg678Trp) SNV Uncertain significance 587433 rs1557663705 GRCh37: 1:27876595-27876595
GRCh38: 1:27550084-27550084
45 AHDC1 NM_001371928.1(AHDC1):c.218G>A (p.Arg73His) SNV Uncertain significance 1033213 GRCh37: 1:27878409-27878409
GRCh38: 1:27551898-27551898
46 AHDC1 NM_001371928.1(AHDC1):c.4479C>T (p.Gly1493=) SNV Uncertain significance 1033214 GRCh37: 1:27874148-27874148
GRCh38: 1:27547637-27547637
47 AHDC1 NM_001371928.1(AHDC1):c.732C>G (p.Ile244Met) SNV Uncertain significance 1033215 GRCh37: 1:27877895-27877895
GRCh38: 1:27551384-27551384
48 AHDC1 NM_001371928.1(AHDC1):c.787G>A (p.Ala263Thr) SNV Uncertain significance 1033216 GRCh37: 1:27877840-27877840
GRCh38: 1:27551329-27551329
49 AHDC1 NM_001371928.1(AHDC1):c.4585C>T (p.Arg1529Cys) SNV Likely benign 801464 rs200178921 GRCh37: 1:27874042-27874042
GRCh38: 1:27547531-27547531
50 AHDC1 NM_001029882.3(AHDC1):c.337A>T (p.Asn113Tyr) SNV Likely benign 431372 rs1135401946 GRCh37: 1:27878290-27878290
GRCh38: 1:27551779-27551779

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

Cellular components related to Xia-Gibbs Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 basement membrane GO:0005604 9.16 COL4A5 COL4A4
2 collagen trimer GO:0005581 8.96 COL4A5 COL4A4
3 collagen type IV trimer GO:0005587 8.62 COL4A5 COL4A4

Molecular functions related to Xia-Gibbs Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 extracellular matrix structural constituent GO:0005201 8.96 COL4A5 COL4A4
2 extracellular matrix structural constituent conferring tensile strength GO:0030020 8.62 COL4A5 COL4A4

Sources for Xia-Gibbs Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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