ACCIID
MCID: ART154
MIFTS: 21

Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development (ACCIID)

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

Aliases & Classifications for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

MalaCards integrated aliases for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development:

Name: Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 57 72 29 6
Acciid 57 72
Craniosynostosis-Microretrognathia-Severe Intellectual Disability Syndrome 58

Characteristics:

OMIM®:

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

Miscellaneous:
two unrelated patients have been reported (last curated january 2019)
one patient had more severe skeletal manifestations


HPO:

31
arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development:
Inheritance autosomal dominant inheritance


Classifications:

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


Summaries for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

UniProtKB/Swiss-Prot : 72 Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development: An autosomal dominant disease characterized by moderate to severe intellectual disability, craniosynostosis, cleft palate, micrognathia, arthrogryposis, and short stature. Some patients may present bone abnormalities and generalized seizures.

MalaCards based summary : Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development, is also known as acciid. An important gene associated with Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development is PPP3CA (Protein Phosphatase 3 Catalytic Subunit Alpha). Related phenotypes are intellectual disability and short stature

OMIM® : 57 ACCIID is characterized by arthrogryposis, cleft palate, craniosynostosis, micrognathia, short stature, and impaired intellectual development. Seizures and bony abnormalities (severe slenderness of the ribs and tubular bones and perinatal fractures) have been observed (Mizuguchi et al., 2018). (618265) (Updated 20-May-2021)

Related Diseases for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

Symptoms & Phenotypes for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

Human phenotypes related to Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development:

31 (show all 13)
# Description HPO Frequency HPO Source Accession
1 intellectual disability 31 HP:0001249
2 short stature 31 HP:0004322
3 cleft palate 31 HP:0000175
4 micrognathia 31 HP:0000347
5 brachydactyly 31 HP:0001156
6 vesicoureteral reflux 31 HP:0000076
7 hydronephrosis 31 HP:0000126
8 craniosynostosis 31 HP:0001363
9 arthrogryposis multiplex congenita 31 HP:0002804
10 decreased body weight 31 HP:0004325
11 plagiocephaly 31 HP:0001357
12 trigonocephaly 31 HP:0000243
13 thin ribs 31 HP:0000883

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate

Skeletal Hands:
brachydactyly

Genitourinary Kidneys:
hydronephrosis

Head And Neck Head:
plagiocephaly
trigonocephaly

Skeletal:
arthrogryposis
gracile bones
perinatal fractures
tubular bones

Growth Weight:
low weight (-2.9 to -4 sd)

Neurologic Behavioral Psychiatric Manifestations:
stereotypical behavior

Head And Neck Face:
micrognathia

Genitourinary Ureters:
vesicoureteral reflux

Skeletal Skull:
craniosynostosis

Chest Ribs Sternum Clavicles And Scapulae:
slender ribs

Growth Height:
short stature (-4.4 to -5 sd)

Neurologic Central Nervous System:
intellectual disability, moderate to severe (dq <10 - 50)
generalized seizures, tractable (seen at 9 months in 1 patient)

Clinical features from OMIM®:

618265 (Updated 20-May-2021)

Drugs & Therapeutics for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

Search Clinical Trials , NIH Clinical Center for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development

Genetic Tests for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

Genetic tests related to Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development:

# Genetic test Affiliating Genes
1 Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development 29 PPP3CA

Anatomical Context for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

Publications for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

Articles related to Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development:

# Title Authors PMID Year
1
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. 57 6
29432562 2018
2
Clinical and Genetic Study on a Chinese Patient with Infantile Onset Epileptic Encephalopathy carrying a PPP3CA Null Variant: a case report. 61
32593294 2020

Variations for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

ClinVar genetic disease variations for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development:

6
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PPP3CA NM_000944.5(PPP3CA):c.1408T>C (p.Phe470Leu) SNV Pathogenic 599240 rs1560567347 GRCh37: 4:101947180-101947180
GRCh38: 4:101026023-101026023
2 PPP3CA NM_000944.5(PPP3CA):c.1417G>A (p.Ala473Thr) SNV Pathogenic 599241 rs1560567337 GRCh37: 4:101947171-101947171
GRCh38: 4:101026014-101026014
3 PPP3CA NM_000944.5(PPP3CA):c.1417G>T (p.Ala473Ser) SNV Pathogenic 1064703 GRCh37: 4:101947171-101947171
GRCh38: 4:101026014-101026014

UniProtKB/Swiss-Prot genetic disease variations for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development:

72
# Symbol AA change Variation ID SNP ID
1 PPP3CA p.Phe470Leu VAR_081902 rs156056734
2 PPP3CA p.Ala473Thr VAR_081903 rs156056733

Expression for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

Search GEO for disease gene expression data for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development.

Pathways for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

GO Terms for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

Sources for Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired...

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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