MCID: ACR013
MIFTS: 45

Acrodysostosis

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

Aliases & Classifications for Acrodysostosis

MalaCards integrated aliases for Acrodysostosis:

Name: Acrodysostosis 12 76 53 59 29 6 44 15 73
Maroteaux-Malamut Syndrome 53 59
Arkless-Graham Syndrome 53 59
Acrodysplasia 53 59
Peripheral Dysostosis-Nasal Hypoplasia-Intellectual Disability Syndrome 53
Nasal Hypoplasia-Peripheral Dysostosis-Intellectual Disability Syndrome 53

Characteristics:

Orphanet epidemiological data:

59
acrodysostosis
Inheritance: Autosomal dominant; Age of onset: Antenatal,Neonatal;

Classifications:



Summaries for Acrodysostosis

NIH Rare Diseases : 53 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 maroteaux-malamut syndrome, is related to acrodysostosis with multiple hormone resistance and anemia, congenital dyserythropoietic, type ia. An important gene associated with Acrodysostosis is PDE4D (Phosphodiesterase 4D), and among its related pathways/superpathways are ADP signalling through P2Y purinoceptor 12 and Myometrial Relaxation and Contraction Pathways. Affiliated tissues include h, foot and bone, and related phenotypes are cryptorchidism and abnormality of female external genitalia

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

Wikipedia : 76 Acrodysostosis also known as Arkless-Graham syndrome or Maroteaux-Malamut syndrome is a rare congenital... more...

Related Diseases for Acrodysostosis

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

(show all 34)
# Related Disease Score Top Affiliating Genes
1 acrodysostosis with multiple hormone resistance 33.3 PDE4D PRKAR1A
2 anemia, congenital dyserythropoietic, type ia 31.7 C15orf41 CDAN1
3 carney complex variant 29.8 GNAS PRKAR1A
4 albright's hereditary osteodystrophy 29.3 GNAS PDE4D PRKAR1A
5 acrodysostosis 2 with or without hormone resistance 12.3
6 acrodysostosis 1 with or without hormone resistance 12.3
7 acrodysplasia scoliosis 12.2
8 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia 12.0
9 peripheral dysostosis 11.2
10 anemia, congenital dyserythropoietic, type ib 10.9
11 dystelephalangy 10.9
12 acrofacial dysostosis 1, nager type 10.9
13 postaxial acrofacial dysostosis 10.9
14 hormone producing pituitary cancer 10.1 GNAS PRKAR1A
15 pseudohypoparathyroidism 10.1
16 growth hormone secreting pituitary adenoma 10.1 GNAS PRKAR1A
17 hypocalcemia, autosomal dominant 1 10.1 GNAS PRKAR1A
18 dysostosis 10.1
19 congenital dyserythropoietic anemia 10.0 C15orf41 CDAN1
20 primary pigmented nodular adrenocortical disease 10.0 GNAS PRKAR1A
21 pituitary adenoma, prolactin-secreting 10.0 GNAS PRKAR1A
22 combined immunodeficiency, x-linked 9.9
23 macrocytic anemia 9.9 C15orf41 CDAN1
24 adrenocortical carcinoma, hereditary 9.8 GNAS PRKAR1A
25 thiemann disease 9.8
26 protrusio acetabuli 9.8
27 aging 9.8
28 brachydactyly 9.8
29 gaucher's disease 9.8
30 turner syndrome 9.8
31 craniofacial conodysplasia 9.8
32 pseudopseudohypoparathyroidism 9.7 GNAS PDE4D PRKAR1A
33 multiple endocrine neoplasia, type i 9.7 GNAS PRKAR1A
34 conn's syndrome 9.5 GNAS PRKAR1A

Graphical network of the top 20 diseases related to Acrodysostosis:



Diseases related to Acrodysostosis

Symptoms & Phenotypes for Acrodysostosis

Human phenotypes related to Acrodysostosis:

59 32 (show all 40)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 abnormality of female external genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000055
3 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
4 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
5 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
6 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
7 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
8 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
9 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
10 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
11 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
12 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
13 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
14 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
15 menstrual irregularities 59 32 occasional (7.5%) Occasional (29-5%) HP:0000858
16 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
17 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
18 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
19 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001597
20 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
21 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
22 hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0002984
23 hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0003022
24 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
25 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
26 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
27 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
28 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
29 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
30 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
31 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
32 cone-shaped epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010579
33 epiphyseal stippling 59 32 hallmark (90%) Very frequent (99-80%) HP:0010655
34 short metatarsal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010743
35 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
36 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
37 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
38 abnormality of the metacarpal bones 59 Very frequent (99-80%)
39 abnormality of the radius 59 Frequent (79-30%)
40 abnormality of the ulna 59 Frequent (79-30%)

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
H, Foot

MalaCards organs/tissues related to Acrodysostosis:

41
Bone, Skin, Eye

Publications for Acrodysostosis

Articles related to Acrodysostosis:

(show all 49)
# Title Authors Year
1
Radicular claudication revealing possible acrodysostosis: A case report. ( 29097240 )
2018
2
Endocrinological and phenotype evaluation in a patient with acrodysostosis. ( 28804209 )
2017
3
Phenotypic variability in a family with Acrodysostosis Type 2 caused by a novel PDE4D mutation affecting the Serine target of PKA phosphorylation. ( 28515031 )
2017
4
Structure of a PKA RII+ Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation. ( 27825928 )
2016
5
Modulation of signaling through GPCR-cAMP-PKA pathways by PDE4 depends on stimulus intensity: Possible implications for the pathogenesis of acrodysostosis without hormone resistance. ( 27908835 )
2016
6
Knock-in of the Recurrent R368X Mutation of PRKAR1A that Represses cAMP-Dependent Protein Kinase A Activation: A Model of Type 1 Acrodysostosis. ( 27589370 )
2016
7
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex. ( 26405036 )
2015
8
Acrodysostosis: A new form of pseudohypoparathyroidism? ( 25890446 )
2015
9
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. ( 25044890 )
2014
10
The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis. ( 25075981 )
2014
11
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. ( 25064455 )
2014
12
Identification of novel mutations confirms Pde4d as a major gene causing acrodysostosis. ( 23033274 )
2013
13
Acrodysostosis associated with hypercalcemia. ( 23933701 )
2013
14
Acrodysostosis and Spinal Canal Involvement. ( 23548849 )
2013
15
Novel mutations of the PRKAR1A gene in patients with acrodysostosis. ( 23425300 )
2013
16
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. ( 22464250 )
2012
17
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. ( 23043190 )
2012
18
Acrodysostosis syndromes. ( 24363928 )
2012
19
Acrodysostosis. ( 22815067 )
2012
20
PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. ( 22723333 )
2012
21
Exome sequencing identifies PDE4D mutations in acrodysostosis. ( 22464252 )
2012
22
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. ( 21651393 )
2011
23
Adult case of acrodysostosis with severe neurologic involvement. ( 20023341 )
2009
24
Metabolic syndrome manifestations in an adolescent with acrodysostosis. ( 17663300 )
2007
25
Acrodysostosis with unusual iridal color changing with age. ( 17440934 )
2007
26
Acrodysostosis: autosomal dominant transmission. ( 16141486 )
2005
27
Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias. ( 12164361 )
2002
28
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. ( 11200992 )
2001
29
Type IIIc Gaucher disease and acrodysostosis. ( 10804949 )
2000
30
Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. ( 9039990 )
1997
31
Acrodysostosis with 5 alpha reductase deficiency: an unusual association. ( 7960003 )
1994
32
Acrodysostosis associated with spinal canal stenosis. ( 8235885 )
1993
33
Autosomal dominant transmission of acrodysostosis. ( 1342871 )
1992
34
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? ( 1342872 )
1992
35
Epiphyseal stippling in acrodysostosis. ( 2012131 )
1991
36
Acrodysostosis in two generations: an autosomal dominant syndrome. ( 1860254 )
1991
37
Picture of the month. Acrodysostosis. ( 2330926 )
1990
38
Nasomaxillo-acrodysostosis. ( 2911784 )
1989
39
Acrodysostosis and protrusio acetabuli. An association. ( 3339057 )
1988
40
Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. ( 3055990 )
1988
41
Acrodysostosis syndrome. ( 3583381 )
1987
42
Acrodysostosis and blue eyes. ( 7358397 )
1980
43
Autosomal dominant acrodysostosis. ( 457123 )
1979
44
Acrodysostosis. A case report. ( 99154 )
1978
45
Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. ( 643365 )
1978
46
The pattern of shortening of the bones of the hand in PHP and PPHP--A comparison with brachydactyly E, Turner Syndrome, and acrodysostosis. ( 870942 )
1977
47
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. ( 188348 )
1977
48
Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease. ( 1261107 )
1976
49
Acrodysostosis. A syndrome of peripheral dysostosis, nasal hypoplasia, and mental retardation. ( 5551869 )
1971

Variations for Acrodysostosis

ClinVar genetic disease variations for Acrodysostosis:

6
(show top 50) (show all 294)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE4D NM_001104631.1(PDE4D): c.1288-8dupT duplication Likely benign rs143090133 GRCh37 Chromosome 5, 58285754: 58285754
2 PDE4D NM_001104631.1(PDE4D): c.1288-8dupT duplication Likely benign rs143090133 GRCh38 Chromosome 5, 58989927: 58989927
3 PRKAR1A NM_002734.4(PRKAR1A): c.221G> A (p.Arg74His) single nucleotide variant Conflicting interpretations of pathogenicity rs200069356 GRCh37 Chromosome 17, 66518940: 66518940
4 PRKAR1A NM_002734.4(PRKAR1A): c.221G> A (p.Arg74His) single nucleotide variant Conflicting interpretations of pathogenicity rs200069356 GRCh38 Chromosome 17, 68522799: 68522799
5 PRKAR1A NM_002734.4(PRKAR1A): c.546G> A (p.Thr182=) single nucleotide variant Likely benign rs117639566 GRCh37 Chromosome 17, 66521096: 66521096
6 PRKAR1A NM_002734.4(PRKAR1A): c.546G> A (p.Thr182=) single nucleotide variant Likely benign rs117639566 GRCh38 Chromosome 17, 68524955: 68524955
7 PDE4D NM_001104631.1(PDE4D): c.*2747G> A single nucleotide variant Uncertain significance rs557226166 GRCh37 Chromosome 5, 58267744: 58267744
8 PDE4D NM_001104631.1(PDE4D): c.*2747G> A single nucleotide variant Uncertain significance rs557226166 GRCh38 Chromosome 5, 58971917: 58971917
9 PDE4D NM_001104631.1(PDE4D): c.*5413G> C single nucleotide variant Likely benign rs538935097 GRCh37 Chromosome 5, 58265078: 58265078
10 PDE4D NM_001104631.1(PDE4D): c.*5413G> C single nucleotide variant Likely benign rs538935097 GRCh38 Chromosome 5, 58969251: 58969251
11 PDE4D NM_001104631.1(PDE4D): c.*5260T> C single nucleotide variant Benign rs11950492 GRCh38 Chromosome 5, 58969404: 58969404
12 PDE4D NM_001104631.1(PDE4D): c.*5260T> C single nucleotide variant Benign rs11950492 GRCh37 Chromosome 5, 58265231: 58265231
13 PDE4D NM_001104631.1(PDE4D): c.*5125C> T single nucleotide variant Likely benign rs829257 GRCh38 Chromosome 5, 58969539: 58969539
14 PDE4D NM_001104631.1(PDE4D): c.*5125C> T single nucleotide variant Likely benign rs829257 GRCh37 Chromosome 5, 58265366: 58265366
15 PDE4D NM_001104631.1(PDE4D): c.*4915C> T single nucleotide variant Benign rs13160982 GRCh37 Chromosome 5, 58265576: 58265576
16 PDE4D NM_001104631.1(PDE4D): c.*4915C> T single nucleotide variant Benign rs13160982 GRCh38 Chromosome 5, 58969749: 58969749
17 PDE4D NM_001104631.1(PDE4D): c.*3562T> C single nucleotide variant Uncertain significance rs886060706 GRCh37 Chromosome 5, 58266929: 58266929
18 PDE4D NM_001104631.1(PDE4D): c.*3562T> C single nucleotide variant Uncertain significance rs886060706 GRCh38 Chromosome 5, 58971102: 58971102
19 PDE4D NM_001104631.1(PDE4D): c.*3349T> A single nucleotide variant Likely benign rs72764043 GRCh37 Chromosome 5, 58267142: 58267142
20 PDE4D NM_001104631.1(PDE4D): c.*3349T> A single nucleotide variant Likely benign rs72764043 GRCh38 Chromosome 5, 58971315: 58971315
21 PDE4D NM_001104631.1(PDE4D): c.*3214T> A single nucleotide variant Likely benign rs188938118 GRCh37 Chromosome 5, 58267277: 58267277
22 PDE4D NM_001104631.1(PDE4D): c.*3214T> A single nucleotide variant Likely benign rs188938118 GRCh38 Chromosome 5, 58971450: 58971450
23 PDE4D NM_001104631.1(PDE4D): c.*2242_*2243delAT deletion Likely benign rs148755437 GRCh37 Chromosome 5, 58268248: 58268249
24 PDE4D NM_001104631.1(PDE4D): c.*2242_*2243delAT deletion Likely benign rs148755437 GRCh38 Chromosome 5, 58972421: 58972422
25 PDE4D NM_001104631.1(PDE4D): c.*2100C> T single nucleotide variant Likely benign rs577109679 GRCh37 Chromosome 5, 58268391: 58268391
26 PDE4D NM_001104631.1(PDE4D): c.*2100C> T single nucleotide variant Likely benign rs577109679 GRCh38 Chromosome 5, 58972564: 58972564
27 PDE4D NM_001104631.1(PDE4D): c.*2004C> A single nucleotide variant Uncertain significance rs760686759 GRCh37 Chromosome 5, 58268487: 58268487
28 PDE4D NM_001104631.1(PDE4D): c.*2004C> A single nucleotide variant Uncertain significance rs760686759 GRCh38 Chromosome 5, 58972660: 58972660
29 PDE4D NM_001104631.1(PDE4D): c.*1773A> G single nucleotide variant Likely benign rs829260 GRCh38 Chromosome 5, 58972891: 58972891
30 PDE4D NM_001104631.1(PDE4D): c.*1773A> G single nucleotide variant Likely benign rs829260 GRCh37 Chromosome 5, 58268718: 58268718
31 PDE4D NM_001104631.1(PDE4D): c.*1459_*1463dupGTTAA duplication Benign rs140905619 GRCh37 Chromosome 5, 58269028: 58269032
32 PDE4D NM_001104631.1(PDE4D): c.*1459_*1463dupGTTAA duplication Benign rs140905619 GRCh38 Chromosome 5, 58973201: 58973205
33 PDE4D NM_001104631.1(PDE4D): c.*1251A> G single nucleotide variant Likely benign rs17719258 GRCh37 Chromosome 5, 58269240: 58269240
34 PDE4D NM_001104631.1(PDE4D): c.*1251A> G single nucleotide variant Likely benign rs17719258 GRCh38 Chromosome 5, 58973413: 58973413
35 PDE4D NM_001104631.1(PDE4D): c.*1200T> A single nucleotide variant Likely benign rs577495801 GRCh37 Chromosome 5, 58269291: 58269291
36 PDE4D NM_001104631.1(PDE4D): c.*1200T> A single nucleotide variant Likely benign rs577495801 GRCh38 Chromosome 5, 58973464: 58973464
37 PDE4D NM_001104631.1(PDE4D): c.*1034C> T single nucleotide variant Uncertain significance rs886060710 GRCh37 Chromosome 5, 58269457: 58269457
38 PDE4D NM_001104631.1(PDE4D): c.*1034C> T single nucleotide variant Uncertain significance rs886060710 GRCh38 Chromosome 5, 58973630: 58973630
39 PDE4D NM_001104631.1(PDE4D): c.*872_*875dupCTTT duplication Benign rs140301103 GRCh37 Chromosome 5, 58269616: 58269619
40 PDE4D NM_001104631.1(PDE4D): c.*872_*875dupCTTT duplication Benign rs140301103 GRCh38 Chromosome 5, 58973789: 58973792
41 PDE4D NM_001104631.1(PDE4D): c.*797_*800dupGTTT duplication Likely benign rs200995197 GRCh37 Chromosome 5, 58269691: 58269694
42 PDE4D NM_001104631.1(PDE4D): c.*797_*800dupGTTT duplication Likely benign rs200995197 GRCh38 Chromosome 5, 58973864: 58973867
43 PDE4D NM_001104631.1(PDE4D): c.*649T> G single nucleotide variant Uncertain significance rs886060713 GRCh37 Chromosome 5, 58269842: 58269842
44 PDE4D NM_001104631.1(PDE4D): c.*649T> G single nucleotide variant Uncertain significance rs886060713 GRCh38 Chromosome 5, 58974015: 58974015
45 PDE4D NM_001104631.1(PDE4D): c.1542G> C (p.Leu514=) single nucleotide variant Uncertain significance rs375617990 GRCh37 Chromosome 5, 58284330: 58284330
46 PDE4D NM_001104631.1(PDE4D): c.1542G> C (p.Leu514=) single nucleotide variant Uncertain significance rs375617990 GRCh38 Chromosome 5, 58988503: 58988503
47 PDE4D NM_001104631.1(PDE4D): c.456-12C> T single nucleotide variant Likely benign rs114278541 GRCh38 Chromosome 5, 59215980: 59215980
48 PDE4D NM_001104631.1(PDE4D): c.456-12C> T single nucleotide variant Likely benign rs114278541 GRCh37 Chromosome 5, 58511806: 58511806
49 PDE4D NM_001104631.1(PDE4D): c.*5283A> G single nucleotide variant Uncertain significance rs866638632 GRCh38 Chromosome 5, 58969381: 58969381
50 PDE4D NM_001104631.1(PDE4D): c.*5283A> G single nucleotide variant Uncertain significance rs866638632 GRCh37 Chromosome 5, 58265208: 58265208

Expression for Acrodysostosis

Search GEO for disease gene expression data for Acrodysostosis.

Pathways for Acrodysostosis

GO Terms for Acrodysostosis

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

# Name GO ID Score Top Affiliating Genes
1 multicellular organism growth GO:0035264 9.16 GNAS PDE4D
2 cellular response to glucagon stimulus GO:0071377 8.96 GNAS PRKAR1A
3 renal water homeostasis GO:0003091 8.62 GNAS PRKAR1A

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

# Name GO ID Score Top Affiliating Genes
1 cAMP binding GO:0030552 8.96 PDE4D PRKAR1A
2 beta-2 adrenergic receptor binding GO:0031698 8.62 GNAS PDE4D

Sources for Acrodysostosis

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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