MCID: ACR013
MIFTS: 46

Acrodysostosis

Categories: Bone diseases, Ear diseases, Fetal diseases, Oral diseases, Rare diseases, Smell/Taste diseases

Aliases & Classifications for Acrodysostosis

MalaCards integrated aliases for Acrodysostosis:

Name: Acrodysostosis 12 76 53 59 37 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 Parathyroid hormone synthesis, secretion and action and cAMP signaling pathway. Affiliated tissues include bone, skin and eye, and related phenotypes are hypertelorism and intellectual disability

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 33.2 PDE4D PRKAR1A
2 anemia, congenital dyserythropoietic, type ia 31.9 C15orf41 CDAN1
3 carney complex variant 30.0 GNAS PRKAR1A
4 albright's hereditary osteodystrophy 29.9 GNAS PDE4D PRKAR1A
5 brachydactyly 29.8 GNAS PDE4D PRKAR1A
6 acrodysostosis 2 with or without hormone resistance 12.5
7 acrodysostosis 1 with or without hormone resistance 12.4
8 acrodysplasia scoliosis 12.4
9 acrodysplasia with ossification abnormalities, short stature, and fibular hypoplasia 12.1
10 peripheral dysostosis 11.4
11 anemia, congenital dyserythropoietic, type ib 11.1
12 dystelephalangy 11.1
13 acrofacial dysostosis 1, nager type 11.0
14 postaxial acrofacial dysostosis 11.0
15 pseudohypoparathyroidism 10.3
16 dysostosis 10.2
17 hormone producing pituitary cancer 10.0 GNAS PRKAR1A
18 severe combined immunodeficiency 10.0
19 combined t cell and b cell immunodeficiency 10.0
20 pseudopseudohypoparathyroidism 10.0 GNAS PRKAR1A
21 growth hormone secreting pituitary adenoma 10.0 GNAS PRKAR1A
22 hypocalcemia, autosomal dominant 1 10.0 GNAS PRKAR1A
23 congenital dyserythropoietic anemia 10.0 C15orf41 CDAN1
24 primary pigmented nodular adrenocortical disease 10.0 GNAS PRKAR1A
25 thiemann disease 10.0
26 protrusio acetabuli 10.0
27 gaucher's disease 10.0
28 turner syndrome 10.0
29 5-alpha reductase deficiency 10.0
30 craniofacial conodysplasia 10.0
31 pituitary adenoma, prolactin-secreting 10.0 GNAS PRKAR1A
32 macrocytic anemia 9.9 C15orf41 CDAN1
33 multiple endocrine neoplasia, type i 9.9 GNAS PRKAR1A
34 adrenocortical carcinoma, hereditary 9.8 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 hypertelorism 59 32 frequent (33%) Frequent (79-30%) HP:0000316
2 intellectual disability 59 32 hallmark (90%) Very frequent (99-80%) HP:0001249
3 mandibular prognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000303
4 hearing impairment 59 32 frequent (33%) Frequent (79-30%) HP:0000365
5 depressed nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0005280
6 open bite 59 32 occasional (7.5%) Occasional (29-5%) HP:0010807
7 wide nasal bridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000431
8 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
9 anteverted nares 59 32 frequent (33%) Frequent (79-30%) HP:0000463
10 short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0004322
11 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
12 abnormality of the nail 59 32 hallmark (90%) Very frequent (99-80%) HP:0001597
13 peripheral neuropathy 59 32 frequent (33%) Frequent (79-30%) HP:0009830
14 delayed eruption of teeth 59 32 frequent (33%) Frequent (79-30%) HP:0000684
15 micromelia 59 32 frequent (33%) Frequent (79-30%) HP:0002983
16 cone-shaped epiphysis 59 32 hallmark (90%) Very frequent (99-80%) HP:0010579
17 epicanthus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000286
18 abnormal form of the vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0003312
19 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
20 epiphyseal stippling 59 32 hallmark (90%) Very frequent (99-80%) HP:0010655
21 melanocytic nevus 59 32 occasional (7.5%) Occasional (29-5%) HP:0000995
22 short toe 59 32 hallmark (90%) Very frequent (99-80%) HP:0001831
23 abnormality of immune system physiology 59 32 frequent (33%) Frequent (79-30%) HP:0010978
24 hypogonadism 59 32 occasional (7.5%) Occasional (29-5%) HP:0000135
25 depressed nasal ridge 59 32 hallmark (90%) Very frequent (99-80%) HP:0000457
26 hypoplasia of the maxilla 59 32 hallmark (90%) Very frequent (99-80%) HP:0000327
27 open mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000194
28 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
29 spinal canal stenosis 59 32 frequent (33%) Frequent (79-30%) HP:0003416
30 midface retrusion 59 32 hallmark (90%) Very frequent (99-80%) HP:0011800
31 hypoplasia of the ulna 59 32 frequent (33%) Frequent (79-30%) HP:0003022
32 short metacarpal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010049
33 accelerated skeletal maturation 59 32 hallmark (90%) Very frequent (99-80%) HP:0005616
34 abnormality of female external genitalia 59 32 frequent (33%) Frequent (79-30%) HP:0000055
35 hypoplasia of the radius 59 32 frequent (33%) Frequent (79-30%) HP:0002984
36 menstrual irregularities 59 32 occasional (7.5%) Occasional (29-5%) HP:0000858
37 short metatarsal 59 32 hallmark (90%) Very frequent (99-80%) HP:0010743
38 abnormality of the ulna 59 Frequent (79-30%)
39 abnormality of the metacarpal bones 59 Very frequent (99-80%)
40 abnormality of the radius 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

MalaCards organs/tissues related to Acrodysostosis:

41
Bone, Skin, Eye, Pituitary, T Cells, B Cells

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

19
Foot, H

Publications for Acrodysostosis

Articles related to Acrodysostosis:

(show top 50) (show all 51)
# Title Authors Year
1
Radicular claudication revealing possible acrodysostosis: A case report. ( 29097240 )
2018
2
Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia. ( 30006632 )
2018
3
Mutations causing acrodysostosis-2 facilitate activation of phosphodiesterase 4D3. ( 29016851 )
2017
4
Endocrinological and phenotype evaluation in a patient with acrodysostosis. ( 28804209 )
2017
5
Phenotypic variability in a family with Acrodysostosis Type 2 caused by a novel PDE4D mutation affecting the Serine target of PKA phosphorylation. ( 28515031 )
2017
6
Structure of a PKA RII+ Recurrent Acrodysostosis Mutant Explains Defective cAMP-Dependent Activation. ( 27825928 )
2016
7
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
8
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
9
Functional Characterization of PRKAR1A Mutations Reveals a Unique Molecular Mechanism Causing Acrodysostosis but Multiple Mechanisms Causing Carney Complex. ( 26405036 )
2015
10
Acrodysostosis: A new form of pseudohypoparathyroidism? ( 25890446 )
2015
11
Acroscyphodysplasia as a phenotypic variation of pseudohypoparathyroidism and acrodysostosis type 2. ( 25044890 )
2014
12
The first mutation identified in a Chinese acrodysostosis patient confirms a p.G289E variation of PRKAR1A causes acrodysostosis. ( 25075981 )
2014
13
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis. ( 25064455 )
2014
14
Identification of novel mutations confirms Pde4d as a major gene causing acrodysostosis. ( 23033274 )
2013
15
Acrodysostosis associated with hypercalcemia. ( 23933701 )
2013
16
Acrodysostosis and Spinal Canal Involvement. ( 23548849 )
2013
17
Novel mutations of the PRKAR1A gene in patients with acrodysostosis. ( 23425300 )
2013
18
Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis. ( 22464250 )
2012
19
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance. ( 23043190 )
2012
20
Acrodysostosis syndromes. ( 24363928 )
2012
21
Acrodysostosis. ( 22815067 )
2012
22
PRKAR1A mutation affecting cAMP-mediated G protein-coupled receptor signaling in a patient with acrodysostosis and hormone resistance. ( 22723333 )
2012
23
Exome sequencing identifies PDE4D mutations in acrodysostosis. ( 22464252 )
2012
24
Recurrent PRKAR1A mutation in acrodysostosis with hormone resistance. ( 21651393 )
2011
25
Adult case of acrodysostosis with severe neurologic involvement. ( 20023341 )
2009
26
Metabolic syndrome manifestations in an adolescent with acrodysostosis. ( 17663300 )
2007
27
Acrodysostosis with unusual iridal color changing with age. ( 17440934 )
2007
28
Acrodysostosis: autosomal dominant transmission. ( 16141486 )
2005
29
Acrodysostosis and craniofacial conodysplasia are two separate bone dysplasias. ( 12164361 )
2002
30
Radiographic findings and Gs-alpha bioactivity studies and mutation screening in acrodysostosis indicate a different etiology from pseudohypoparathyroidism. ( 11200992 )
2001
31
Type IIIc Gaucher disease and acrodysostosis. ( 10804949 )
2000
32
Normal erythrocyte membrane Gs alpha bioactivity in two unrelated patients with acrodysostosis. ( 9039990 )
1997
33
Acrodysostosis with 5 alpha reductase deficiency: an unusual association. ( 7960003 )
1994
34
Acrodysostosis associated with spinal canal stenosis. ( 8235885 )
1993
35
Autosomal dominant transmission of acrodysostosis. ( 1342871 )
1992
36
Familial acrodysostosis: can it be distinguished from Albright's hereditary osteodystrophy? ( 1342872 )
1992
37
Epiphyseal stippling in acrodysostosis. ( 2012131 )
1991
38
Acrodysostosis in two generations: an autosomal dominant syndrome. ( 1860254 )
1991
39
Picture of the month. Acrodysostosis. ( 2330926 )
1990
40
Nasomaxillo-acrodysostosis. ( 2911784 )
1989
41
Acrodysostosis and protrusio acetabuli. An association. ( 3339057 )
1988
42
Acrodysostosis: report of a 13-year-old boy with review of literature and metacarpophalangeal pattern profile analysis. ( 3055990 )
1988
43
Acrodysostosis syndrome. ( 3583381 )
1987
44
Acrodysostosis and blue eyes. ( 7358397 )
1980
45
Autosomal dominant acrodysostosis. ( 457123 )
1979
46
Acrodysostosis. A case report. ( 99154 )
1978
47
Acrodysostosis. A case of peripheral dysostosis, nasal hypoplasia, mental retardation and impaired hearing. ( 643365 )
1978
48
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
49
Acrodysostosis coinciding with pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism. ( 188348 )
1977
50
Acrodysplasias peripheral dysostosis, acrodysostosis and Thiemann's disease. ( 1261107 )
1976

Variations for Acrodysostosis

ClinVar genetic disease variations for Acrodysostosis:

6 (show top 50) (show all 300)
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_002734.4(PRKAR1A): c.204G> A (p.Leu68=) single nucleotide variant Benign/Likely benign rs74863634 GRCh37 Chromosome 17, 66518923: 66518923
2 PRKAR1A NM_002734.4(PRKAR1A): c.204G> A (p.Leu68=) single nucleotide variant Benign/Likely benign rs74863634 GRCh38 Chromosome 17, 68522782: 68522782
3 PRKAR1A NM_002734.4(PRKAR1A): c.349-5dupT duplication Benign/Likely benign rs3841514 GRCh37 Chromosome 17, 66519861: 66519861
4 PRKAR1A NM_002734.4(PRKAR1A): c.349-5dupT duplication Benign/Likely benign rs3841514 GRCh38 Chromosome 17, 68523720: 68523720
5 PRKAR1A NM_002734.4(PRKAR1A): c.87G> A (p.Ala29=) single nucleotide variant Benign/Likely benign rs3730349 GRCh37 Chromosome 17, 66511627: 66511627
6 PRKAR1A NM_002734.4(PRKAR1A): c.87G> A (p.Ala29=) single nucleotide variant Benign/Likely benign rs3730349 GRCh38 Chromosome 17, 68515486: 68515486
7 PDE4D NM_001104631.1(PDE4D): c.1288-8dupT duplication Likely benign rs143090133 GRCh37 Chromosome 5, 58285754: 58285754
8 PDE4D NM_001104631.1(PDE4D): c.1288-8dupT duplication Likely benign rs143090133 GRCh38 Chromosome 5, 58989927: 58989927
9 PRKAR1A NM_002734.4(PRKAR1A): c.221G> A (p.Arg74His) single nucleotide variant Conflicting interpretations of pathogenicity rs200069356 GRCh37 Chromosome 17, 66518940: 66518940
10 PRKAR1A NM_002734.4(PRKAR1A): c.221G> A (p.Arg74His) single nucleotide variant Conflicting interpretations of pathogenicity rs200069356 GRCh38 Chromosome 17, 68522799: 68522799
11 PRKAR1A NM_002734.4(PRKAR1A): c.546G> A (p.Thr182=) single nucleotide variant Likely benign rs117639566 GRCh37 Chromosome 17, 66521096: 66521096
12 PRKAR1A NM_002734.4(PRKAR1A): c.546G> A (p.Thr182=) single nucleotide variant Likely benign rs117639566 GRCh38 Chromosome 17, 68524955: 68524955
13 PDE4D NM_001104631.1(PDE4D): c.*5413G> C single nucleotide variant Likely benign rs538935097 GRCh37 Chromosome 5, 58265078: 58265078
14 PDE4D NM_001104631.1(PDE4D): c.*5413G> C single nucleotide variant Likely benign rs538935097 GRCh38 Chromosome 5, 58969251: 58969251
15 PDE4D NM_001104631.1(PDE4D): c.*5260T> C single nucleotide variant Benign rs11950492 GRCh38 Chromosome 5, 58969404: 58969404
16 PDE4D NM_001104631.1(PDE4D): c.*5260T> C single nucleotide variant Benign rs11950492 GRCh37 Chromosome 5, 58265231: 58265231
17 PDE4D NM_001104631.1(PDE4D): c.*5125C> T single nucleotide variant Likely benign rs829257 GRCh38 Chromosome 5, 58969539: 58969539
18 PDE4D NM_001104631.1(PDE4D): c.*5125C> T single nucleotide variant Likely benign rs829257 GRCh37 Chromosome 5, 58265366: 58265366
19 PDE4D NM_001104631.1(PDE4D): c.*5545C> A single nucleotide variant Uncertain significance rs886060700 GRCh37 Chromosome 5, 58264946: 58264946
20 PDE4D NM_001104631.1(PDE4D): c.*5545C> A single nucleotide variant Uncertain significance rs886060700 GRCh38 Chromosome 5, 58969119: 58969119
21 PDE4D NM_001104631.1(PDE4D): c.*5190A> G single nucleotide variant Uncertain significance rs886060701 GRCh38 Chromosome 5, 58969474: 58969474
22 PDE4D NM_001104631.1(PDE4D): c.*5190A> G single nucleotide variant Uncertain significance rs886060701 GRCh37 Chromosome 5, 58265301: 58265301
23 PDE4D NM_001104631.1(PDE4D): c.*5118T> G single nucleotide variant Benign rs11959349 GRCh38 Chromosome 5, 58969546: 58969546
24 PDE4D NM_001104631.1(PDE4D): c.*5118T> G single nucleotide variant Benign rs11959349 GRCh37 Chromosome 5, 58265373: 58265373
25 PDE4D NM_001104631.1(PDE4D): c.*4622G> T single nucleotide variant Likely benign rs532407753 GRCh37 Chromosome 5, 58265869: 58265869
26 PDE4D NM_001104631.1(PDE4D): c.*4622G> T single nucleotide variant Likely benign rs532407753 GRCh38 Chromosome 5, 58970042: 58970042
27 PDE4D NM_001104631.1(PDE4D): c.*4001C> G single nucleotide variant Benign rs829258 GRCh38 Chromosome 5, 58970663: 58970663
28 PDE4D NM_001104631.1(PDE4D): c.*4294_*4298delATTTT deletion Uncertain significance rs766825126 GRCh37 Chromosome 5, 58266193: 58266197
29 PDE4D NM_001104631.1(PDE4D): c.*4294_*4298delATTTT deletion Uncertain significance rs766825126 GRCh38 Chromosome 5, 58970366: 58970370
30 PDE4D NM_001104631.1(PDE4D): c.*4039G> T single nucleotide variant Benign rs10071088 GRCh37 Chromosome 5, 58266452: 58266452
31 PDE4D NM_001104631.1(PDE4D): c.*4039G> T single nucleotide variant Benign rs10071088 GRCh38 Chromosome 5, 58970625: 58970625
32 PDE4D NM_001104631.1(PDE4D): c.*4001C> G single nucleotide variant Benign rs829258 GRCh37 Chromosome 5, 58266490: 58266490
33 PDE4D NM_001104631.1(PDE4D): c.*3754_*3755dupTT duplication Uncertain significance rs776856051 GRCh37 Chromosome 5, 58266736: 58266737
34 PDE4D NM_001104631.1(PDE4D): c.*3754_*3755dupTT duplication Uncertain significance rs776856051 GRCh38 Chromosome 5, 58970909: 58970910
35 PDE4D NM_001104631.1(PDE4D): c.*2999T> C single nucleotide variant Uncertain significance rs200919800 GRCh37 Chromosome 5, 58267492: 58267492
36 PDE4D NM_001104631.1(PDE4D): c.*2999T> C single nucleotide variant Uncertain significance rs200919800 GRCh38 Chromosome 5, 58971665: 58971665
37 PDE4D NM_001104631.1(PDE4D): c.*2934G> A single nucleotide variant Benign rs702530 GRCh37 Chromosome 5, 58267557: 58267557
38 PDE4D NM_001104631.1(PDE4D): c.*2934G> A single nucleotide variant Benign rs702530 GRCh38 Chromosome 5, 58971730: 58971730
39 PDE4D NM_001104631.1(PDE4D): c.*2288A> G single nucleotide variant Benign rs10036063 GRCh37 Chromosome 5, 58268203: 58268203
40 PDE4D NM_001104631.1(PDE4D): c.*2288A> G single nucleotide variant Benign rs10036063 GRCh38 Chromosome 5, 58972376: 58972376
41 PDE4D NM_001104631.1(PDE4D): c.*2166delT deletion Uncertain significance rs747331829 GRCh37 Chromosome 5, 58268325: 58268325
42 PDE4D NM_001104631.1(PDE4D): c.*2166delT deletion Uncertain significance rs747331829 GRCh38 Chromosome 5, 58972498: 58972498
43 PDE4D NM_001104631.1(PDE4D): c.*1638G> A single nucleotide variant Benign rs10075508 GRCh38 Chromosome 5, 58973026: 58973026
44 PDE4D NM_001104631.1(PDE4D): c.*1638G> A single nucleotide variant Benign rs10075508 GRCh37 Chromosome 5, 58268853: 58268853
45 PDE4D NM_001104631.1(PDE4D): c.*1361C> T single nucleotide variant Likely benign rs187518449 GRCh37 Chromosome 5, 58269130: 58269130
46 PDE4D NM_001104631.1(PDE4D): c.*1361C> T single nucleotide variant Likely benign rs187518449 GRCh38 Chromosome 5, 58973303: 58973303
47 PDE4D NM_001104631.1(PDE4D): c.*1278C> T single nucleotide variant Uncertain significance rs775984561 GRCh37 Chromosome 5, 58269213: 58269213
48 PDE4D NM_001104631.1(PDE4D): c.*1278C> T single nucleotide variant Uncertain significance rs775984561 GRCh38 Chromosome 5, 58973386: 58973386
49 PDE4D NM_001104631.1(PDE4D): c.*1268T> C single nucleotide variant Uncertain significance rs886060709 GRCh37 Chromosome 5, 58269223: 58269223
50 PDE4D NM_001104631.1(PDE4D): c.*1268T> C single nucleotide variant Uncertain significance rs886060709 GRCh38 Chromosome 5, 58973396: 58973396

Expression for Acrodysostosis

Search GEO for disease gene expression data for Acrodysostosis.

Pathways for Acrodysostosis

Pathways related to Acrodysostosis according to KEGG:

37
# Name Kegg Source Accession
1 Parathyroid hormone synthesis, secretion and action hsa04928
2 cAMP signaling pathway hsa04024

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 renal water homeostasis GO:0003091 8.96 GNAS PRKAR1A
3 cellular response to glucagon stimulus GO:0071377 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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