ACRDYS1
MCID: ACR110
MIFTS: 26

Acrodysostosis 1 with or Without Hormone Resistance (ACRDYS1)

Categories: Genetic diseases, Endocrine 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 cryptorchidism and hypogonadism

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 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 12.0
2 acrodysostosis 2 with or without hormone resistance 11.0

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)

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

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

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7 CNVD
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10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
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44 MeSH
45 MESH via Orphanet
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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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