MCID: ACR013
MIFTS: 53

Acrodysostosis

Categories: Bone diseases, Ear diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Acrodysostosis

MalaCards integrated aliases for Acrodysostosis:

Name: Acrodysostosis 12 73 20 58 36 29 6 44 15 70
Acrodysplasia 20 58 6
Maroteaux-Malamut Syndrome 20 58
Arkless-Graham Syndrome 20 58
Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome 20
Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome 20

Characteristics:

Orphanet epidemiological data:

58
acrodysostosis
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal;

Classifications:

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


Summaries for Acrodysostosis

GARD : 20 Acrodysostosis refers to a group of genetic disorders of bone growth. Common signs and symptoms include very short fingers and toes, underdeveloped facial bones, a small nose, and short stature. Many individuals with acrodysostosis have developmental delays and intellectual disability. Individuals with acrodysostosis additionally may have hormone resistance, which means that the body does not respond to the certain hormones. There are two types of this disorder, characterized by the presence or absence of hormone resistance and the underlying genetic cause. Type 1 is caused by mutations in the PRKAR1A gene and may be associated with hormone resistance, whereas type 2 is caused by mutations in the PDE4D gene and is typically not associated with hormone resistance. Both types are inherited in an autosomal dominant manner, with most reported cases occurring for the first time in a family due to a new mutation. Acrodysostosis can be difficult to distinguish from pseudohypoparathyroidism and pseudopseudohypoparathyroidism. While there is no cure for acrodysostosis, treatment is directed toward the specific symptoms in each individual and may require the coordinated efforts of a team of specialists.

MalaCards based summary : Acrodysostosis, also known as acrodysplasia, is related to acrodysostosis 1 with or without hormone resistance and acrodysostosis with multiple hormone resistance. An important gene associated with Acrodysostosis is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha), and among its related pathways/superpathways are Parathyroid hormone synthesis, secretion and action and cAMP signaling pathway. Affiliated tissues include hand, foot and bone, and related phenotypes are intellectual disability and depressed nasal bridge

Disease Ontology : 12 A dysostosis that results in shortening of interphalangeal joints located in hand or located in foot along with mental deficiency.

KEGG : 36 Acrodysostosis (ACRDYS) is a rare autosomal dominant condition characterized by nasal hypoplasia, peripheral dysostosis, variable short stature, and intellectual impairment. Recently, mutations in PRKAR1A have been identified in individuals with acrodysostosis and resistance to multiple hormones. And it has been reported that PDE4D mutations are another cause of acrodysostosis. PDE4D regulates cAMP concentration.

Wikipedia : 73 Acrodysostosis is a rare congenital malformation syndrome which involves shortening of the... more...

Related Diseases for Acrodysostosis

Diseases related to Acrodysostosis via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 119)
# Related Disease Score Top Affiliating Genes
1 acrodysostosis 1 with or without hormone resistance 32.9 PRKAR1A FAM20A
2 acrodysostosis with multiple hormone resistance 32.0 PRKAR1A PDE4D FAM20A
3 anemia, congenital dyserythropoietic, type ib 31.7 CDIN1 CDAN1
4 osteochondrodysplasia 30.5 PTHLH PTH1R PTH GNAS
5 brachydactyly 30.2 STX16 PTHLH PTH PRKAR1A PDE4D PDE3A
6 chromosome 2q37 deletion syndrome 30.2 STX16 PTH GNAS
7 pseudohypoparathyroidism 30.1 STX16 PTHLH PTH1R PTH PRKAR1A PDE4D
8 carney complex variant 30.1 PRKAR2B PRKAR1A GNAS FAM20A
9 hyperparathyroidism 30.0 PTHLH PTH PRKAR1A
10 multiple endocrine neoplasia 29.9 PTH PRKAR1A GNAS
11 multiple endocrine neoplasia, type i 29.9 PTH PRKAR1A GNAS
12 pseudopseudohypoparathyroidism 29.8 STX16 PTHLH PTH PRKAR1A PLPPR3 PDE4D
13 parathyroid adenoma 29.8 PTHLH PTH PRKAR1A GNAS
14 hypothyroidism, congenital, nongoitrous, 1 29.5 STX16 PTH PRKAR1A PLPPR3 PDE4D GNAS
15 pseudohypoparathyroidism, type ia 29.3 STX16 PTHLH PTH1R PTH PRKAR1A PLPPR3
16 osseous heteroplasia, progressive 29.1 STX16 PTHLH PTH PRKAR1A PLPPR3 PDE4D
17 acrodysostosis 2 with or without hormone resistance 11.6
18 acrodysplasia scoliosis 11.4
19 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia 11.1
20 postaxial acrofacial dysostosis 11.1
21 anemia, congenital dyserythropoietic, type ia 11.1
22 peripheral dysostosis 11.0
23 dystelephalangy 10.9
24 acrofacial dysostosis 1, nager type 10.9
25 dysostosis 10.5
26 myxoma, intracardiac 10.4 PRKAR1A FAM20A
27 pigmented nodular adrenocortical disease, primary, 1 10.4 PRKAR1A FAM20A
28 carney complex, type 1 10.4 PRKAR1A FAM20A
29 acth-independent cushing syndrome 10.3 PRKAR1A GNAS
30 tooth ankylosis 10.3 PTH1R PLPPR3
31 disorders of gnas inactivation 10.3 STX16 GNAS
32 hormone producing pituitary cancer 10.3 PRKAR1A GNAS
33 anemia, congenital dyserythropoietic, type iii 10.3 CDIN1 CDAN1
34 pediatric ovarian germ cell tumor 10.3 PTHLH PTH
35 malignant ovarian brenner tumor 10.3 PTHLH PTH
36 hypoplastic amelogenesis imperfecta 10.3 PRKAR1A FAM20A
37 pediatric ovarian dysgerminoma 10.3 PTHLH PTH
38 melanotic neurilemmoma 10.3 PRKAR2B PRKAR1A
39 oncogenic osteomalacia 10.2 PTHLH PTH
40 adrenal gland disease 10.2 PTH PRKAR1A GNAS
41 sclerosing hepatic carcinoma 10.2 PTHLH PTH
42 acth-independent macronodular adrenal hyperplasia 10.2 PRKAR2B PRKAR1A GNAS
43 amelogenesis imperfecta hypoplastic type, ig 10.2 PRKAR1A FAM20A
44 invasive malignant thymoma 10.2 PTHLH PTH
45 hypervitaminosis d 10.2 PTHLH PTH
46 mccune-albright syndrome 10.2 PTHLH PRKAR1A GNAS
47 multiple enchondromatosis, maffucci type 10.2 PTHLH PTH1R GNAS
48 osteitis fibrosa 10.2 PTH GNAS
49 pituitary adenoma, prolactin-secreting 10.2 PTHLH PRKAR1A GNAS
50 eiken syndrome 10.2 PTHLH PTH1R PTH

Graphical network of the top 20 diseases related to Acrodysostosis:



Diseases related to Acrodysostosis

Symptoms & Phenotypes for Acrodysostosis

Human phenotypes related to Acrodysostosis:

58 31 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 intellectual disability 58 31 hallmark (90%) Very frequent (99-80%) HP:0001249
2 depressed nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0005280
3 wide nasal bridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000431
4 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
5 short stature 58 31 hallmark (90%) Very frequent (99-80%) HP:0004322
6 abnormality of the nail 58 31 hallmark (90%) Very frequent (99-80%) HP:0001597
7 abnormal form of the vertebral bodies 58 31 hallmark (90%) Very frequent (99-80%) HP:0003312
8 epiphyseal stippling 58 31 hallmark (90%) Very frequent (99-80%) HP:0010655
9 short toe 58 31 hallmark (90%) Very frequent (99-80%) HP:0001831
10 hypoplasia of the maxilla 58 31 hallmark (90%) Very frequent (99-80%) HP:0000327
11 open mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000194
12 depressed nasal ridge 58 31 hallmark (90%) Very frequent (99-80%) HP:0000457
13 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
14 midface retrusion 58 31 hallmark (90%) Very frequent (99-80%) HP:0011800
15 short metacarpal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010049
16 accelerated skeletal maturation 58 31 hallmark (90%) Very frequent (99-80%) HP:0005616
17 cone-shaped epiphysis 58 31 hallmark (90%) Very frequent (99-80%) HP:0010579
18 short metatarsal 58 31 hallmark (90%) Very frequent (99-80%) HP:0010743
19 hearing impairment 58 31 frequent (33%) Frequent (79-30%) HP:0000365
20 hypertelorism 58 31 frequent (33%) Frequent (79-30%) HP:0000316
21 mandibular prognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000303
22 anteverted nares 58 31 frequent (33%) Frequent (79-30%) HP:0000463
23 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
24 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
25 abnormality of immune system physiology 58 31 frequent (33%) Frequent (79-30%) HP:0010978
26 delayed eruption of teeth 58 31 frequent (33%) Frequent (79-30%) HP:0000684
27 spinal canal stenosis 58 31 frequent (33%) Frequent (79-30%) HP:0003416
28 peripheral neuropathy 58 31 frequent (33%) Frequent (79-30%) HP:0009830
29 micromelia 58 31 frequent (33%) Frequent (79-30%) HP:0002983
30 hypoplasia of the ulna 58 31 frequent (33%) Frequent (79-30%) HP:0003022
31 abnormality of female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000055
32 hypoplasia of the radius 58 31 frequent (33%) Frequent (79-30%) HP:0002984
33 open bite 58 31 occasional (7.5%) Occasional (29-5%) HP:0010807
34 epicanthus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000286
35 melanocytic nevus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000995
36 hypogonadism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000135
37 irregular menstruation 58 31 occasional (7.5%) Occasional (29-5%) HP:0000858
38 abnormality of the ulna 58 Frequent (79-30%)
39 abnormality of the metacarpal bones 58 Very frequent (99-80%)
40 abnormality of the radius 58 Frequent (79-30%)

MGI Mouse Phenotypes related to Acrodysostosis:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.32 CDAN1 FAM20A GNAS PDE4A PDE4B PPM1M

Drugs & Therapeutics for Acrodysostosis

Search Clinical Trials , NIH Clinical Center for Acrodysostosis

Cochrane evidence based reviews: acrodysostosis

Genetic Tests for Acrodysostosis

Genetic tests related to Acrodysostosis:

# Genetic test Affiliating Genes
1 Acrodysostosis 29

Anatomical Context for Acrodysostosis

The Foundational Model of Anatomy Ontology organs/tissues related to Acrodysostosis:

19
Hand, Foot

MalaCards organs/tissues related to Acrodysostosis:

40
Bone, Pituitary, Heart, Adrenal Gland

Publications for Acrodysostosis

Articles related to Acrodysostosis:

(show top 50) (show all 105)
# Title Authors PMID Year
1
Novel mutations of the PRKAR1A gene in patients with acrodysostosis. 6 61
23425300 2013
2
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. 6 61
23043190 2012
3
Exome sequencing identifies PDE4D mutations in acrodysostosis. 61 6
22464252 2012
4
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. 61 6
22464250 2012
5
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. 6 61
21651393 2011
6
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. 61 6
11200992 2001
7
Pseudohypoparathyroidism and Gsα-cAMP-linked disorders: current view and open issues. 61 20
27109785 2016
8
UNEXPECTED HYPERPARATHYROIDISM IN A PATIENT WITH ACRODYSOSTOSIS. 61
33244495 2020
9
Shortening Scarf Osteotomy for Macrodactyly and Valgus of the Hallux in Acrodysostosis Lesser Toes Brachydactyly. 61
33215519 2020
10
Pseudohypoparathyroidism, acrodysostosis, progressive osseous heteroplasia: different names for the same spectrum of diseases? 61
33179219 2020
11
Novel progressive acrodysostosis-like skeletal dysplasia, cerebellar atrophy, and ichthyosis. 61
32783359 2020
12
[Genetic analysis of a child with acrodysostosis type 2]. 61
32924117 2020
13
Fourteen-year follow-up of a child with acroscyphodysplasia with emphasis on the need for multidisciplinary management: a case report. 61
32993552 2020
14
Dominant-Negative Attenuation of cAMP-Selective Phosphodiesterase PDE4D Action Affects Learning and Behavior. 61
32784895 2020
15
Legg-Calve-Perthes disease in an 8-year old girl with Acrodysostosis type 1 on growth hormone therapy: case report. 61
32782451 2020
16
A novel de novo PDE4D gene mutation identified in a Chinese patient with acrodysostosis. 61
31520578 2019
17
[Heterozygous variation identified in PDE4D gene caused acrodysostosis]. 61
31665847 2019
18
Identification of novel pathogenic variants and features in patients with pseudohypoparathyroidism and acrodysostosis, subtypes of the newly classified inactivating PTH/PTHrP signaling disorders. 61
31041856 2019
19
KBG syndrome presenting with brachydactyly type E. 61
30877071 2019
20
cAMP-dependent activation of the Rac guanine exchange factor P-REX1 by type I protein kinase A (PKA) regulatory subunits. 61
30530493 2019
21
Inactivating PTH/PTHrP Signaling Disorders. 61
30641531 2019
22
Parathyroid hormone resistance syndromes - Inactivating PTH/PTHrP signaling disorders (iPPSDs). 61
30665554 2018
23
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. 61
30006632 2018
24
Pseudohypoparathyroidism. 61
29125274 2018
25
Radicular claudication revealing possible acrodysostosis: A case report. 61
29097240 2018
26
Phenotypic Variability in a Family with Acrodysostosis Type 2 Caused by a Novel PDE4D Mutation Affecting the Serine Target of Protein Kinase-A Phosphorylation. 61
28515031 2017
27
Current Nomenclature of Pseudohypoparathyroidism: Inactivating Parathyroid Hormone/Parathyroid Hormone-Related Protein Signaling Disorder. 61
29280743 2017
28
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3. 61
29016851 2017
29
Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance. 61
27908835 2017
30
Knock-In of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis. 61
27589370 2017
31
Endocrinological and phenotype evaluation in a patient with acrodysostosis. 61
28804209 2017
32
[Regulatory mechanism of calcium metabolism.] 61
28336823 2017
33
Structure of a PKA RIα Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation. 61
27825928 2016
34
From pseudohypoparathyroidism to inactivating PTH/PTHrP signalling disorder (iPPSD), a novel classification proposed by the EuroPHP network. 61
27401862 2016
35
[Pathophysiology of Hypoparathyroidism]. 61
27230838 2016
36
Screening of PRKAR1A and PDE4D in a Large Italian Series of Patients Clinically Diagnosed With Albright Hereditary Osteodystrophy and/or Pseudohypoparathyroidism. 61
26763073 2016
37
[Genes in the cAMP pathway causing skeletal dysplasia with or without hormonal resistance]. 61
27813477 2016
38
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex. 61
26405036 2015
39
Pseudohypoparathyroidism type Ib in 2015. 61
25910998 2015
40
Acrodysostosis: A new form of pseudohypoparathyroidism? 61
25890446 2015
41
Phosphodiesterase-4 (PDE4) molecular pharmacology and Alzheimer's disease. 61
25371167 2015
42
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. 61
25064455 2014
43
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. 61
25044890 2014
44
Acrodysostosis and spinal canal involvement. 61
23548849 2014
45
The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis. 61
25075981 2014
46
Different mutations in PDE4D associated with developmental disorders with mirror phenotypes. 61
24203977 2014
47
Acrodysostosis associated with hypercalcemia. 61
23933701 2013
48
Identification of novel mutations confirms PDE4D as a major gene causing acrodysostosis. 61
23033274 2013
49
Acrodysostosis syndromes. 61
24363928 2012
50
PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. 61
22723333 2012

Variations for Acrodysostosis

ClinVar genetic disease variations for Acrodysostosis:

6 (show top 50) (show all 115)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1102C>T (p.Arg368Ter) SNV Pathogenic 29907 rs387906692 GRCh37: 17:66526546-66526546
GRCh38: 17:68530405-68530405
2 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1117T>C (p.Tyr373His) SNV Pathogenic 29908 rs387906693 GRCh37: 17:66526561-66526561
GRCh38: 17:68530420-68530420
3 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1004G>C (p.Arg335Pro) SNV Pathogenic 29909 rs387906694 GRCh37: 17:66526448-66526448
GRCh38: 17:68530307-68530307
4 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.980T>C (p.Ile327Thr) SNV Pathogenic 29910 rs387906695 GRCh37: 17:66526424-66526424
GRCh38: 17:68530283-68530283
5 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV Likely pathogenic 433148 rs1555815121 GRCh37: 17:66526447-66526447
GRCh38: 17:68530306-68530306
6 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.1003C>T (p.Arg335Cys) SNV Likely pathogenic 433148 rs1555815121 GRCh37: 17:66526447-66526447
GRCh38: 17:68530306-68530306
7 PRKAR1A NM_212472.2(PRKAR1A):c.620A>G (p.Tyr207Cys) SNV Likely pathogenic 638687 rs1600486197 GRCh37: 17:66521965-66521965
GRCh38: 17:68525824-68525824
8 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*233C>T SNV Uncertain significance 889160 GRCh37: 17:66526823-66526823
GRCh38: 17:68530682-68530682
9 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*812A>G SNV Uncertain significance 889222 GRCh37: 17:66527402-66527402
GRCh38: 17:68531261-68531261
10 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1949G>T SNV Uncertain significance 889340 GRCh37: 17:66528539-66528539
GRCh38: 17:68532398-68532398
11 PRKAR1A NM_212472.2(PRKAR1A):c.-200T>A SNV Uncertain significance 889722 GRCh37: 17:66508527-66508527
GRCh38: 17:68512386-68512386
12 PRKAR1A NM_212472.2(PRKAR1A):c.331G>A (p.Ala111Thr) SNV Uncertain significance 579659 rs1472324247 GRCh37: 17:66519050-66519050
GRCh38: 17:68522909-68522909
13 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*299T>G SNV Uncertain significance 889161 GRCh37: 17:66526889-66526889
GRCh38: 17:68530748-68530748
14 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*331G>A SNV Uncertain significance 889841 GRCh37: 17:66526921-66526921
GRCh38: 17:68530780-68530780
15 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*384C>T SNV Uncertain significance 889842 GRCh37: 17:66526974-66526974
GRCh38: 17:68530833-68530833
16 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1640C>T SNV Uncertain significance 889965 GRCh37: 17:66528230-66528230
GRCh38: 17:68532089-68532089
17 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*2089A>G SNV Uncertain significance 890027 GRCh37: 17:66528679-66528679
GRCh38: 17:68532538-68532538
18 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*2114G>A SNV Uncertain significance 890028 GRCh37: 17:66528704-66528704
GRCh38: 17:68532563-68532563
19 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*2152T>C SNV Uncertain significance 890029 GRCh37: 17:66528742-66528742
GRCh38: 17:68532601-68532601
20 PRKAR1A NM_002734.5(PRKAR1A):c.-11C>T SNV Uncertain significance 833813 GRCh37: 17:66508685-66508685
GRCh38: 17:68512544-68512544
21 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*535T>G SNV Uncertain significance 891387 GRCh37: 17:66527125-66527125
GRCh38: 17:68530984-68530984
22 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*560G>A SNV Uncertain significance 891388 GRCh37: 17:66527150-66527150
GRCh38: 17:68531009-68531009
23 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*609C>G SNV Uncertain significance 891389 GRCh37: 17:66527199-66527199
GRCh38: 17:68531058-68531058
24 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1003C>T SNV Uncertain significance 891448 GRCh37: 17:66527593-66527593
GRCh38: 17:68531452-68531452
25 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1687T>C SNV Uncertain significance 891530 GRCh37: 17:66528277-66528277
GRCh38: 17:68532136-68532136
26 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1085G>A SNV Uncertain significance 891709 GRCh37: 17:66527675-66527675
GRCh38: 17:68531534-68531534
27 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1111C>G SNV Uncertain significance 891710 GRCh37: 17:66527701-66527701
GRCh38: 17:68531560-68531560
28 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*1838A>T SNV Uncertain significance 891771 GRCh37: 17:66528428-66528428
GRCh38: 17:68532287-68532287
29 FAM20A , PRKAR1A NM_002734.5(PRKAR1A):c.*2940G>A SNV Uncertain significance 891839 GRCh37: 17:66529530-66529530
GRCh38: 17:68533389-68533389
30 FAM20A , PRKAR1A NM_001276290.1(PRKAR1A):c.973+3439G>T SNV Uncertain significance 891840 GRCh37: 17:66529581-66529581
GRCh38: 17:68533440-68533440
31 PRKAR1A NM_002734.5(PRKAR1A):c.770-8T>G SNV Uncertain significance 892521 GRCh37: 17:66525003-66525003
GRCh38: 17:68528862-68528862
32 PRKAR1A NM_002734.5(PRKAR1A):c.28G>A (p.Glu10Lys) SNV Uncertain significance 892466 GRCh37: 17:66511568-66511568
GRCh38: 17:68515427-68515427
33 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1014A>G SNV Uncertain significance 324802 rs886053311 GRCh37: 17:66527604-66527604
GRCh38: 17:68531463-68531463
34 PDE4D NM_001104631.2(PDE4D):c.*582dup Duplication Uncertain significance 353979 rs886060714 GRCh37: 5:58269908-58269909
GRCh38: 5:58974081-58974082
35 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2067T>C SNV Uncertain significance 324817 rs886053318 GRCh37: 17:66528657-66528657
GRCh38: 17:68532516-68532516
36 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*389T>G SNV Uncertain significance 324788 rs886053307 GRCh37: 17:66526979-66526979
GRCh38: 17:68530838-68530838
37 PDE4D NM_001104631.2(PDE4D):c.*348_*351del Deletion Uncertain significance 353982 rs35684984 GRCh37: 5:58270140-58270143
GRCh38: 5:58974313-58974316
38 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2197G>A SNV Uncertain significance 324821 rs533508012 GRCh37: 17:66528787-66528787
GRCh38: 17:68532646-68532646
39 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1346A>G SNV Uncertain significance 324808 rs545417998 GRCh37: 17:66527936-66527936
GRCh38: 17:68531795-68531795
40 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1062A>G SNV Uncertain significance 324803 rs752303671 GRCh37: 17:66527652-66527652
GRCh38: 17:68531511-68531511
41 PDE4D NM_001104631.2(PDE4D):c.*2028_*2031TAGA[3] Microsatellite Uncertain significance 353951 rs780381459 GRCh37: 5:58268455-58268456
GRCh38: 5:58972628-58972629
42 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*1118dup Duplication Uncertain significance 324804 rs886053312 GRCh37: 17:66527701-66527702
GRCh38: 17:68531560-68531561
43 PDE4D NM_001104631.2(PDE4D):c.*3165_*3166del Deletion Uncertain significance 353934 rs760712576 GRCh37: 5:58267325-58267326
GRCh38: 5:58971498-58971499
44 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*2196C>T SNV Uncertain significance 324820 rs886053320 GRCh37: 17:66528786-66528786
GRCh38: 17:68532645-68532645
45 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*526G>A SNV Uncertain significance 324789 rs886053308 GRCh37: 17:66527116-66527116
GRCh38: 17:68530975-68530975
46 FAM20A , PRKAR1A NM_212472.2(PRKAR1A):c.*704T>G SNV Uncertain significance 324793 rs886053310 GRCh37: 17:66527294-66527294
GRCh38: 17:68531153-68531153
47 PRKAR1A NM_212472.2(PRKAR1A):c.309G>A (p.Glu103=) SNV Uncertain significance 324782 rs746113372 GRCh37: 17:66519028-66519028
GRCh38: 17:68522887-68522887
48 PDE4D NM_001104631.2(PDE4D):c.*33dup Duplication Uncertain significance 353983 rs10718401 GRCh37: 5:58270457-58270458
GRCh38: 5:58974630-58974631
49 PRKAR1A NM_212472.2(PRKAR1A):c.-84C>T SNV Uncertain significance 324777 rs886053304 GRCh37: 17:66508643-66508643
GRCh38: 17:68512502-68512502
50 PDE4D NM_001104631.2(PDE4D):c.*5190A>G SNV Uncertain significance 353912 rs886060701 GRCh37: 5:58265301-58265301
GRCh38: 5:58969474-58969474

Expression for Acrodysostosis

Search GEO for disease gene expression data for Acrodysostosis.

Pathways for Acrodysostosis

Pathways related to Acrodysostosis according to KEGG:

36
# Name Kegg Source Accession
1 Parathyroid hormone synthesis, secretion and action hsa04928
2 cAMP signaling pathway hsa04024

Pathways related to Acrodysostosis according to GeneCards Suite gene sharing:

(show all 21)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.06 PTHLH PTH1R PTH PRKAR2B PRKAR1A PLPPR3
2
Show member pathways
12.97 PRKAR2B PRKAR1A PDE4D PDE4C PDE4B PDE4A
3
Show member pathways
12.92 PRKAR2B PRKAR1A PDE4D PDE4C PDE4B PDE4A
4
Show member pathways
12.64 PDE4D PDE4C PDE4B PDE4A PDE3A
5
Show member pathways
12.58 PRKAR2B PRKAR1A PDE4A PDE3A GNAS
6
Show member pathways
12.47 PDE4D PDE4C PDE4B PDE4A PDE3A GNAS
7
Show member pathways
12.41 PRKAR2B PRKAR1A PDE4D PDE4C PDE4B PDE4A
8
Show member pathways
12.4 PRKAR2B PRKAR1A PDE4D PDE4B GNAS
9
Show member pathways
12.28 PTHLH PTH1R PTH GNAS
10 12.22 PDE4D PDE4C PDE4B PDE4A PDE3A GNAS
11
Show member pathways
12.05 PRKAR2B PRKAR1A PDE4D GNAS
12
Show member pathways
11.87 PRKAR2B PRKAR1A GNAS
13
Show member pathways
11.76 PRKAR2B PRKAR1A PDE4D PDE4C PDE4B PDE4A
14 11.74 PRKAR2B PRKAR1A PDE4D PDE4A PDE3A GNAS
15 11.58 PTHLH PTH1R PTH PDE4D PDE4C PDE4B
16 11.55 PTHLH PTH1R PTH
17 11.44 PTH1R PTH GNAS
18 11.44 PTHLH PTH1R PTH PDE4D PDE4C PDE4B
19 11.22 PTHLH PTH1R PTH PRKAR2B PRKAR1A GNAS
20 11.03 PRKAR2B PRKAR1A GNAS
21 10.74 PTH1R PTH

GO Terms for Acrodysostosis

Cellular components related to Acrodysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytosol GO:0005829 9.93 STX16 PTHLH PRKAR2B PRKAR1A PDE4D PDE4C
2 perinuclear region of cytoplasm GO:0048471 9.17 STX16 PRKAR2B PDE4D PDE4C PDE4B PDE4A
3 cAMP-dependent protein kinase complex GO:0005952 8.96 PRKAR2B PRKAR1A

Biological processes related to Acrodysostosis according to GeneCards Suite gene sharing:

(show all 21)
# Name GO ID Score Top Affiliating Genes
1 signal transduction GO:0007165 10.16 PTHLH PTH1R PLPPR3 PDE4D PDE4C PDE4B
2 G protein-coupled receptor signaling pathway GO:0007186 9.81 PTHLH PTH1R PTH PDE4D PDE4C PDE4B
3 skeletal system development GO:0001501 9.78 PTHLH PTH1R PTH GNAS
4 adenylate cyclase-activating G protein-coupled receptor signaling pathway GO:0007189 9.71 PTHLH PTH1R PTH GNAS
5 renal water homeostasis GO:0003091 9.63 PRKAR2B PRKAR1A GNAS
6 negative regulation of chondrocyte differentiation GO:0032331 9.6 PTHLH PTH
7 negative regulation of cAMP-mediated signaling GO:0043951 9.59 PDE4D PDE3A
8 activation of protein kinase A activity GO:0034199 9.58 PRKAR2B PRKAR1A
9 osteoblast development GO:0002076 9.58 PTHLH PTH1R
10 regulation of cardiac muscle cell contraction GO:0086004 9.57 PDE4D PDE4B
11 cellular response to epinephrine stimulus GO:0071872 9.56 PDE4D PDE4B
12 negative regulation of cAMP-dependent protein kinase activity GO:2000480 9.55 PRKAR2B PRKAR1A
13 regulation of cAMP-dependent protein kinase activity GO:2000479 9.54 PRKAR2B PRKAR1A
14 cellular response to glucagon stimulus GO:0071377 9.54 PRKAR2B PRKAR1A GNAS
15 positive regulation of inositol phosphate biosynthetic process GO:0060732 9.52 PTH1R PTH
16 response to parathyroid hormone GO:0071107 9.49 PTH GNAS
17 cAMP metabolic process GO:0046058 9.43 PTHLH PTH
18 regulation of protein kinase A signaling GO:0010738 9.43 PRKAR2B PRKAR1A PDE4A
19 negative regulation of relaxation of cardiac muscle GO:1901898 9.32 PDE4D PDE4B
20 regulation of cAMP-mediated signaling GO:0043949 9.13 PRKAR2B PRKAR1A PDE4A
21 cAMP catabolic process GO:0006198 8.92 PDE4D PDE4C PDE4B PDE4A

Molecular functions related to Acrodysostosis according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 phosphoric diester hydrolase activity GO:0008081 9.65 PDE4D PDE4C PDE4B PDE4A PDE3A
2 3',5'-cyclic-nucleotide phosphodiesterase activity GO:0004114 9.55 PDE4D PDE4C PDE4B PDE4A PDE3A
3 protein kinase A catalytic subunit binding GO:0034236 9.46 PRKAR2B PRKAR1A
4 peptide hormone receptor binding GO:0051428 9.43 PTHLH PTH
5 cAMP-dependent protein kinase inhibitor activity GO:0004862 9.4 PRKAR2B PRKAR1A
6 cAMP-dependent protein kinase regulator activity GO:0008603 9.37 PRKAR2B PRKAR1A
7 cAMP binding GO:0030552 9.35 PRKAR2B PRKAR1A PDE4D PDE4B PDE4A
8 beta-2 adrenergic receptor binding GO:0031698 9.32 PDE4D GNAS
9 3',5'-cyclic-AMP phosphodiesterase activity GO:0004115 9.02 PDE4D PDE4C PDE4B PDE4A PDE3A

Sources for Acrodysostosis

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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