ACRDYS1
MCID: ACR110
MIFTS: 26

Acrodysostosis 1 with or Without Hormone Resistance (ACRDYS1)

Categories: Bone diseases, Endocrine diseases, Genetic diseases, Metabolic diseases

Aliases & Classifications for Acrodysostosis 1 with or Without Hormone Resistance

MalaCards integrated aliases for Acrodysostosis 1 with or Without Hormone Resistance:

Name: Acrodysostosis 1 with or Without Hormone Resistance 57 29 6 73
Acrodysostosis 1, with or Without Hormone Resistance 57 75 13
Acrdys1 57 75
Adohr 57 75
Maroteaux-Malamut Syndrome 75
Arkless-Graham Syndrome 75
Acrodysostosis 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
epiphyseal stippling is gone by 8 months of age
majority of cases are sporadic
associated with advanced paternal age
not all patients have facial dysmorphism


HPO:

32
acrodysostosis 1 with or without hormone resistance:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrodysostosis 1 with or Without Hormone Resistance

OMIM : 57 Acrodysostosis-1 is a form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin (summary by Linglart et al., 2011). However, not all patients show endocrine abnormalities (Lee et al., 2012). (101800)

MalaCards based summary : Acrodysostosis 1 with or Without Hormone Resistance, also known as acrodysostosis 1, with or without hormone resistance, is related to acrodysostosis and acrodysostosis 2 with or without hormone resistance. An important gene associated with Acrodysostosis 1 with or Without Hormone Resistance is PRKAR1A (Protein Kinase CAMP-Dependent Type I Regulatory Subunit Alpha). Affiliated tissues include bone and eye, and related phenotypes are hypertelorism and hydrocephalus

UniProtKB/Swiss-Prot : 75 Acrodysostosis 1, with or without hormone resistance: A form of skeletal dysplasia characterized by short stature, severe brachydactyly, facial dysostosis, and nasal hypoplasia. Affected individuals often have advanced bone age and obesity. Laboratory studies show resistance to multiple hormones, including parathyroid, thyrotropin, calcitonin, growth hormone-releasing hormone, and gonadotropin. However, not all patients show endocrine abnormalities.

Related Diseases for Acrodysostosis 1 with or Without Hormone Resistance

Diseases in the Acrodysostosis 1 with or Without Hormone Resistance family:

Acrodysostosis 2 with or Without Hormone Resistance

Diseases related to Acrodysostosis 1 with or Without Hormone Resistance via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acrodysostosis 12.1
2 acrodysostosis 2 with or without hormone resistance 11.1

Symptoms & Phenotypes for Acrodysostosis 1 with or Without Hormone Resistance

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Eyes:
hypertelorism
optic atrophy
strabismus
epicanthal folds
blue eyes (japanese patients)

Skeletal Spine:
scoliosis
spinal canal stenosis
narrow interpediculate distances
small vertebrae

Head And Neck Head:
brachycephaly

Endocrine Features:
hypogonadism
multiple hormone resistance
irregular menses

Skeletal Skull:
calvarial hyperostosis
hypoplastic maxilla

Head And Neck Ears:
hearing loss

Growth Other:
growth retardation, mild to moderate, prenatal onset

Skeletal Limbs:
radial head dislocation

Skeletal Feet:
large halluces
short metatarsals

Laboratory Abnormalities:
increased serum parathyroid hormone
low or normal serum calcium
normal or increased serum phosphate
increased urinary camp excretion
increased serum thyrotropin
more
Neurologic Central Nervous System:
hydrocephalus
mental retardation (iq 24-85) (variable)

Growth Height:
short stature
brachymelic dwarfism (upper limbs greater than lower limbs)

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Teeth:
hypodontia
malocclusion
delayed tooth eruption

Head And Neck Nose:
low nasal bridge
broad, upturned nose
dimpled nasal tip

Head And Neck Face:
prognathism
hypoplastic maxilla

Skeletal:
advanced bone age
epiphyseal stippling in neonates (lumbosacral and cervical bodies, carpus, tarsus, proximal humerus, terminal phalanges, knees, hips)

Skeletal Hands:
short, broad hands
short metacarpals
short phalanges
cone-shaped epiphyses

Skin Nails Hair Skin:
dorsal hand wrinkling
pigmented nevi


Clinical features from OMIM:

101800

Human phenotypes related to Acrodysostosis 1 with or Without Hormone Resistance:

32 (show all 38)
# Description HPO Frequency HPO Source Accession
1 hypertelorism 32 HP:0000316
2 hydrocephalus 32 HP:0000238
3 intellectual disability 32 HP:0001249
4 scoliosis 32 HP:0002650
5 mandibular prognathia 32 HP:0000303
6 hearing impairment 32 HP:0000365
7 dental malocclusion 32 HP:0000689
8 depressed nasal bridge 32 HP:0005280
9 optic atrophy 32 HP:0000648
10 brachycephaly 32 HP:0000248
11 strabismus 32 HP:0000486
12 delayed eruption of teeth 32 HP:0000684
13 short palm 32 HP:0004279
14 epicanthus 32 HP:0000286
15 cryptorchidism 32 HP:0000028
16 melanocytic nevus 32 HP:0000995
17 hypogonadism 32 HP:0000135
18 hypoplasia of the maxilla 32 HP:0000327
19 blue irides 32 HP:0000635
20 broad nasal tip 32 HP:0000455
21 elevated circulating parathyroid hormone level 32 HP:0003165
22 spinal canal stenosis 32 HP:0003416
23 hypodontia 32 HP:0000668
24 disproportionate short-limb short stature 32 HP:0008873
25 short metacarpal 32 HP:0010049
26 accelerated skeletal maturation 32 HP:0005616
27 broad palm 32 HP:0001169
28 calvarial hyperostosis 32 HP:0004490
29 hypoplastic vertebral bodies 32 HP:0008479
30 long hallux 32 HP:0001847
31 cone-shaped epiphyses of the phalanges of the hand 32 HP:0010230
32 short phalanx of finger 32 HP:0009803
33 dislocated radial head 32 HP:0003083
34 menstrual irregularities 32 HP:0000858
35 short metatarsal 32 HP:0010743
36 mild postnatal growth retardation 32 HP:0001530
37 narrow vertebral interpedicular distance 32 HP:0008450
38 neonatal epiphyseal stippling 32 HP:0005756

Drugs & Therapeutics for Acrodysostosis 1 with or Without Hormone Resistance

Search Clinical Trials , NIH Clinical Center for Acrodysostosis 1 with or Without Hormone Resistance

Genetic Tests for Acrodysostosis 1 with or Without Hormone Resistance

Genetic tests related to Acrodysostosis 1 with or Without Hormone Resistance:

# Genetic test Affiliating Genes
1 Acrodysostosis 1 with or Without Hormone Resistance 29 PRKAR1A

Anatomical Context for Acrodysostosis 1 with or Without Hormone Resistance

MalaCards organs/tissues related to Acrodysostosis 1 with or Without Hormone Resistance:

41
Bone, Eye

Publications for Acrodysostosis 1 with or Without Hormone Resistance

Variations for Acrodysostosis 1 with or Without Hormone Resistance

UniProtKB/Swiss-Prot genetic disease variations for Acrodysostosis 1 with or Without Hormone Resistance:

75 (show all 11)
# Symbol AA change Variation ID SNP ID
1 PRKAR1A p.Tyr373His VAR_068241 rs387906693
2 PRKAR1A p.Ala213Thr VAR_069456
3 PRKAR1A p.Thr239Ala VAR_069458
4 PRKAR1A p.Gln285Arg VAR_069459
5 PRKAR1A p.Gly289Glu VAR_069460
6 PRKAR1A p.Ile327Thr VAR_069461 rs387906695
7 PRKAR1A p.Ala328Val VAR_069462
8 PRKAR1A p.Arg335Pro VAR_069463 rs387906694
9 PRKAR1A p.Arg335Leu VAR_069464
10 PRKAR1A p.Tyr373Cys VAR_069465
11 PRKAR1A p.Tyr175Cys VAR_075533

ClinVar genetic disease variations for Acrodysostosis 1 with or Without Hormone Resistance:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 PRKAR1A NM_002734.4(PRKAR1A): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs387906692 GRCh37 Chromosome 17, 66526546: 66526546
2 PRKAR1A NM_002734.4(PRKAR1A): c.1102C> T (p.Arg368Ter) single nucleotide variant Pathogenic rs387906692 GRCh38 Chromosome 17, 68530405: 68530405
3 PRKAR1A NM_002734.4(PRKAR1A): c.1117T> C (p.Tyr373His) single nucleotide variant Pathogenic rs387906693 GRCh37 Chromosome 17, 66526561: 66526561
4 PRKAR1A NM_002734.4(PRKAR1A): c.1117T> C (p.Tyr373His) single nucleotide variant Pathogenic rs387906693 GRCh38 Chromosome 17, 68530420: 68530420
5 PRKAR1A NM_002734.4(PRKAR1A): c.1004G> C (p.Arg335Pro) single nucleotide variant Pathogenic rs387906694 GRCh37 Chromosome 17, 66526448: 66526448
6 PRKAR1A NM_002734.4(PRKAR1A): c.1004G> C (p.Arg335Pro) single nucleotide variant Pathogenic rs387906694 GRCh38 Chromosome 17, 68530307: 68530307
7 PRKAR1A NM_002734.4(PRKAR1A): c.980T> C (p.Ile327Thr) single nucleotide variant Pathogenic rs387906695 GRCh37 Chromosome 17, 66526424: 66526424
8 PRKAR1A NM_002734.4(PRKAR1A): c.980T> C (p.Ile327Thr) single nucleotide variant Pathogenic rs387906695 GRCh38 Chromosome 17, 68530283: 68530283
9 PRKAR1A NM_002734.4(PRKAR1A): c.1003C> T (p.Arg335Cys) single nucleotide variant Likely pathogenic GRCh38 Chromosome 17, 68530306: 68530306
10 PRKAR1A NM_002734.4(PRKAR1A): c.1003C> T (p.Arg335Cys) single nucleotide variant Likely pathogenic GRCh37 Chromosome 17, 66526447: 66526447

Expression for Acrodysostosis 1 with or Without Hormone Resistance

Search GEO for disease gene expression data for Acrodysostosis 1 with or Without Hormone Resistance.

Pathways for Acrodysostosis 1 with or Without Hormone Resistance

GO Terms for Acrodysostosis 1 with or Without Hormone Resistance

Sources for Acrodysostosis 1 with or Without Hormone Resistance

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
Content
Loading form....