ACCIID
MCID: ART154
MIFTS: 15

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

Categories: Bone diseases, Genetic 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 58 76 6
Acciid 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal dominant

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


Classifications:



External Ids:

OMIM 58 618265
MeSH 45 D000015
MedGen 43 CN257944

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

UniProtKB/Swiss-Prot : 76 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). Affiliated tissues include bone, and related phenotypes are arthrogryposis multiplex congenita and trigonocephaly

OMIM : 58 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)

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:

33
# Description HPO Frequency HPO Source Accession
1 arthrogryposis multiplex congenita 33 HP:0002804
2 trigonocephaly 33 HP:0000243
3 plagiocephaly 33 HP:0001357

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Mouth:
cleft palate

Head And Neck Head:
trigonocephaly
plagiocephaly

Genitourinary Ureters:
vesicoureteral reflux

Genitourinary Kidneys:
hydronephrosis

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

Skeletal Hands:
brachydactyly

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

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...

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

MalaCards organs/tissues related to Arthrogryposis, Cleft Palate, Craniosynostosis, and Impaired Intellectual Development:

42
Bone

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

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

# Title Authors Year
1
Loss-of-function and gain-of-function mutations in PPP3CA cause two distinct disorders. ( 29432562 )
2018

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

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

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PPP3CA NM_001130691.1(PPP3CA): c.1378T> C (p.Phe460Leu) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 101026023: 101026023
2 PPP3CA NM_001130691.1(PPP3CA): c.1378T> C (p.Phe460Leu) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 101947180: 101947180
3 PPP3CA NM_001130691.1(PPP3CA): c.1387G> A (p.Ala463Thr) single nucleotide variant Pathogenic GRCh38 Chromosome 4, 101026014: 101026014
4 PPP3CA NM_001130691.1(PPP3CA): c.1387G> A (p.Ala463Thr) single nucleotide variant Pathogenic GRCh37 Chromosome 4, 101947171: 101947171

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...

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70 SNOMED-CT via HPO
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72 TGDB
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74 UMLS
75 UMLS via Orphanet
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