ARTHS
MCID: ARB005
MIFTS: 28

Arboleda-Tham Syndrome (ARTHS)

Categories: Bone diseases, Cardiovascular diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Arboleda-Tham Syndrome

MalaCards integrated aliases for Arboleda-Tham Syndrome:

Name: Arboleda-Tham Syndrome 56
Mental Retardation, Autosomal Dominant 32 73 29 6
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome 58
Mental Retardation, Autosomal Dominant 32, Formerly; Mrd32, Formerly 56
Mental Retardation, Autosomal Dominant 32, Formerly 56
Mrd32, Formerly 56
Arths 56
Mrd32 73

Characteristics:

Orphanet epidemiological data:

58
autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
facial dysmorphic features are variable
all reported mutations have occurred de novo


HPO:

31
arboleda-tham syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare cardiac malformations
Rare bone diseases
Developmental anomalies during embryogenesis


Summaries for Arboleda-Tham Syndrome

UniProtKB/Swiss-Prot : 73 Mental retardation, autosomal dominant 32: A form of mental retardation, a disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD32 patients manifest intellectual disability, dysmorphic facial features, delayed psychomotor development, and lack of speech.

MalaCards based summary : Arboleda-Tham Syndrome, also known as mental retardation, autosomal dominant 32, is related to autosomal dominant non-syndromic intellectual disability 32. An important gene associated with Arboleda-Tham Syndrome is KAT6A (Lysine Acetyltransferase 6A). Affiliated tissues include bone, and related phenotypes are global developmental delay and abnormal facial shape

OMIM : 56 Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications (summary by Kennedy et al., 2019). (616268)

Related Diseases for Arboleda-Tham Syndrome

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

# Related Disease Score Top Affiliating Genes
1 autosomal dominant non-syndromic intellectual disability 32 11.3

Symptoms & Phenotypes for Arboleda-Tham Syndrome

Human phenotypes related to Arboleda-Tham Syndrome:

58 31 (show all 46)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 global developmental delay 58 31 hallmark (90%) Very frequent (99-80%) HP:0001263
2 abnormal facial shape 58 31 hallmark (90%) Very frequent (99-80%) HP:0001999
3 microcephaly 58 31 hallmark (90%) Very frequent (99-80%) HP:0000252
4 neonatal hypotonia 58 31 hallmark (90%) Very frequent (99-80%) HP:0001319
5 intellectual disability, severe 58 31 hallmark (90%) Very frequent (99-80%) HP:0010864
6 thin upper lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000219
7 prominent nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000426
8 broad nasal tip 58 31 hallmark (90%) Very frequent (99-80%) HP:0000455
9 poor speech 58 31 hallmark (90%) Very frequent (99-80%) HP:0002465
10 narrow forehead 58 31 hallmark (90%) Very frequent (99-80%) HP:0000341
11 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
12 gastroesophageal reflux 58 31 frequent (33%) Frequent (79-30%) HP:0002020
13 feeding difficulties 58 31 frequent (33%) Frequent (79-30%) HP:0011968
14 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
15 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
17 atrial septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001631
18 muscle stiffness 58 31 frequent (33%) Frequent (79-30%) HP:0003552
19 neonatal respiratory distress 58 31 frequent (33%) Frequent (79-30%) HP:0002643
20 downturned corners of mouth 58 31 frequent (33%) Frequent (79-30%) HP:0002714
21 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
22 patent ductus arteriosus 58 31 frequent (33%) Frequent (79-30%) HP:0001643
23 ventricular septal defect 58 31 frequent (33%) Frequent (79-30%) HP:0001629
24 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
25 microretrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000308
26 plagiocephaly 58 31 frequent (33%) Frequent (79-30%) HP:0001357
27 cerebral visual impairment 58 31 frequent (33%) Frequent (79-30%) HP:0100704
28 seizure 31 occasional (7.5%) HP:0001250
29 optic atrophy 58 31 occasional (7.5%) Occasional (29-5%) HP:0000648
30 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
31 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
32 brachydactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0001156
33 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
34 laryngomalacia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001601
35 intestinal malrotation 58 31 occasional (7.5%) Occasional (29-5%) HP:0002566
36 dystonia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001332
37 preauricular pit 58 31 occasional (7.5%) Occasional (29-5%) HP:0004467
38 lacrimal duct stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0007678
39 intellectual disability 31 HP:0001249
40 abnormality of the dentition 31 HP:0000164
41 seizures 58 Frequent (79-30%)
42 absent speech 31 HP:0001344
43 growth delay 58 Frequent (79-30%)
44 low-set ears 31 HP:0000369
45 respiratory distress 31 HP:0002098
46 posteriorly rotated ears 31 HP:0000358

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Head:
microcephaly
plagiocephaly

Head And Neck Eyes:
strabismus
ptosis
epicanthal folds
cortical visual impairment

Cardiovascular Heart:
atrial septal defect
ventricular septal defect

Head And Neck Nose:
prominent nasal bridge
broad nasal tip
prominent nasal root

Head And Neck Face:
microretrognathia
bitemporal narrowing

Head And Neck Teeth:
dental anomalies

Muscle Soft Tissue:
hypotonia, neonatal

Respiratory:
respiratory distress, neonatal

Abdomen Gastrointestinal:
feeding difficulties
gastrointestinal reflux

Head And Neck Ears:
low-set ears
posteriorly rotated ears

Cardiovascular Vascular:
patent ductus arteriosus

Skeletal Skull:
craniosynostosis

Head And Neck Mouth:
thin upper lip
downturned corners of the mouth

Neurologic Central Nervous System:
delayed psychomotor development
seizures (rare)
poor or absent speech

Growth Other:
poor overall growth

Clinical features from OMIM:

616268

Drugs & Therapeutics for Arboleda-Tham Syndrome

Search Clinical Trials , NIH Clinical Center for Arboleda-Tham Syndrome

Genetic Tests for Arboleda-Tham Syndrome

Genetic tests related to Arboleda-Tham Syndrome:

# Genetic test Affiliating Genes
1 Mental Retardation, Autosomal Dominant 32 29 KAT6A

Anatomical Context for Arboleda-Tham Syndrome

MalaCards organs/tissues related to Arboleda-Tham Syndrome:

40
Bone

Publications for Arboleda-Tham Syndrome

Articles related to Arboleda-Tham Syndrome:

# Title Authors PMID Year
1
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder. 6 56
27133397 2016
2
De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay. 56 6
25728775 2015
3
Dominant mutations in KAT6A cause intellectual disability with recognizable syndromic features. 56 6
25728777 2015
4
KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants. 56
30245513 2019

Variations for Arboleda-Tham Syndrome

ClinVar genetic disease variations for Arboleda-Tham Syndrome:

6 (show all 27) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 KAT6A NM_006766.5(KAT6A):c.3443del (p.Lys1148fs)deletion Pathogenic 559638 rs1554680245 8:41792295-41792295 8:41934777-41934777
2 KAT6A NM_006766.5(KAT6A):c.4228_4232del (p.Lys1410fs)deletion Pathogenic 524135 rs1554679889 8:41791506-41791510 8:41933988-41933992
3 KAT6A NM_006766.5(KAT6A):c.856C>T (p.Arg286Ter)SNV Pathogenic 598767 rs1564038539 8:41838415-41838415 8:41980897-41980897
4 KAT6A NM_006766.5(KAT6A):c.907+1deldeletion Pathogenic 620010 rs1564038389 8:41838363-41838363 8:41980845-41980845
5 KAT6A KAT6A, ASN643SERSNV Pathogenic 626907
6 KAT6A NM_006766.5(KAT6A):c.1903-5_1903-2deldeletion Pathogenic 692079 8:41804204-41804207 8:41946686-41946689
7 KAT6A NM_006766.5(KAT6A):c.3318_3319insCT (p.Glu1107fs)insertion Pathogenic 807615 8:41794807-41794808 8:41937289-41937290
8 KAT6A NM_006766.5(KAT6A):c.3306del (p.Lys1103fs)deletion Pathogenic 807616 8:41794820-41794820 8:41937302-41937302
9 KAT6A NM_006766.5(KAT6A):c.3116_3117del (p.Ile1038_Ser1039insTer)deletion Pathogenic 162616 rs786200959 8:41795009-41795010 8:41937491-41937492
10 KAT6A NM_006766.5(KAT6A):c.3385C>T (p.Arg1129Ter)SNV Pathogenic 180229 rs786200960 8:41792353-41792353 8:41934835-41934835
11 KAT6A NM_006766.5(KAT6A):c.3070C>T (p.Arg1024Ter)SNV Pathogenic 180230 rs786200961 8:41795056-41795056 8:41937538-41937538
12 KAT6A NM_006766.5(KAT6A):c.3879dup (p.Glu1294fs)duplication Pathogenic 180678 rs786200952 8:41791858-41791859 8:41934340-41934341
13 KAT6A NM_006766.5(KAT6A):c.3505C>T (p.Arg1169Ter)SNV Pathogenic 280873 rs886042000 8:41792233-41792233 8:41934715-41934715
14 KAT6A NM_006766.5(KAT6A):c.4254_4257del (p.Glu1419fs)deletion Pathogenic 369686 rs1057516049 8:41791481-41791484 8:41933963-41933966
15 KAT6A NM_006766.5(KAT6A):c.4038del (p.Val1347fs)deletion Pathogenic/Likely pathogenic 617516 rs1564005155 8:41791700-41791700 8:41934182-41934182
16 KAT6A NM_006766.5(KAT6A):c.4688_4689del (p.Asn1562_Tyr1563insTer)deletion Likely pathogenic 559923 rs1554679726 8:41791049-41791050 8:41933531-41933532
17 KAT6A NM_006766.5(KAT6A):c.3596del (p.Gly1199fs)deletion Likely pathogenic 559924 rs1554680188 8:41792142-41792142 8:41934624-41934624
18 KAT6A NM_006766.5(KAT6A):c.2218del (p.Arg740fs)deletion Likely pathogenic 828153 8:41801276-41801276 8:41943758-41943758
19 KAT6A NM_006766.5(KAT6A):c.893C>T (p.Thr298Ile)SNV Conflicting interpretations of pathogenicity 634490 rs199732997 8:41838378-41838378 8:41980860-41980860
20 KAT6A NM_006766.5(KAT6A):c.5560C>T (p.His1854Tyr)SNV Uncertain significance 638390 8:41790178-41790178 8:41932660-41932660
21 KAT6A NM_006766.5(KAT6A):c.4108G>T (p.Glu1370Ter)SNV Uncertain significance 162180 rs138944476 8:41791630-41791630 8:41934112-41934112
22 KAT6A NM_006766.5(KAT6A):c.5525C>G (p.Thr1842Arg)SNV Likely benign 265767 rs886037914 8:41790213-41790213 8:41932695-41932695
23 KAT6A NM_006766.5(KAT6A):c.4952C>T (p.Pro1651Leu)SNV Likely benign 445624 rs144417514 8:41790786-41790786 8:41933268-41933268
24 KAT6A NM_006766.5(KAT6A):c.5776C>G (p.Arg1926Gly)SNV Likely benign 802401 8:41789962-41789962 8:41932444-41932444
25 KAT6A NM_006766.5(KAT6A):c.2983G>A (p.Glu995Lys)SNV Likely benign 548600 rs779315883 8:41798416-41798416 8:41940898-41940898
26 KAT6A NM_006766.5(KAT6A):c.5040_5051del (p.1677_1680QQPQ[1])deletion Benign/Likely benign 589281 rs548231613 8:41790687-41790698 8:41933169-41933180
27 KAT6A NM_006766.5(KAT6A):c.5736T>G (p.Asn1912Lys)SNV not provided 818162 8:41790002-41790002 8:41932484-41932484

Expression for Arboleda-Tham Syndrome

Search GEO for disease gene expression data for Arboleda-Tham Syndrome.

Pathways for Arboleda-Tham Syndrome

GO Terms for Arboleda-Tham Syndrome

Sources for Arboleda-Tham Syndrome

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63 QIAGEN
68 SNOMED-CT via HPO
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70 Tocris
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72 UMLS via Orphanet
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