MCID: ACR119
MIFTS: 23

Acrodysostosis 2 with or Without Hormone Resistance

Categories: Genetic diseases, Endocrine diseases

Aliases & Classifications for Acrodysostosis 2 with or Without Hormone Resistance

MalaCards integrated aliases for Acrodysostosis 2 with or Without Hormone Resistance:

Name: Acrodysostosis 2 with or Without Hormone Resistance 57 73
Acrodysostosis 2, with or Without Hormone Resistance 57 75 29 13 6
Acrdys2 57 75
Acrodysostosis, with/without Hormone Resistance, Type 2 40
Acrodysostosis 73

Characteristics:

OMIM:

57
Inheritance:
autosomal dominant

Miscellaneous:
onset at birth


HPO:

32
acrodysostosis 2 with or without hormone resistance:
Onset and clinical course congenital onset
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acrodysostosis 2 with or Without Hormone Resistance

UniProtKB/Swiss-Prot : 75 Acrodysostosis 2, with or without hormone resistance: A pleiotropic disorder characterized by skeletal, endocrine, and neurological abnormalities. Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis. Endocrine abnormalities include hypothyroidism and hypogonadism in males and irregular menses in females. Developmental disability is a common finding but is variable in severity and can be associated with significant behavioral problems.

MalaCards based summary : Acrodysostosis 2 with or Without Hormone Resistance, is also known as acrodysostosis 2, with or without hormone resistance. An important gene associated with Acrodysostosis 2 with or Without Hormone Resistance is PDE4D (Phosphodiesterase 4D). Affiliated tissues include bone and eye, and related phenotypes are cryptorchidism and hypospadias

OMIM : 57 Acrodysostosis-2 is a rare skeletal dysplasia characterized by brachydactyly, facial dysostosis, and spinal stenosis. Many patients have intellectual disability and some have hormone resistance (summary by Michot et al., 2012 and Lee et al., 2012). For a discussion of genetic heterogeneity of acrodysostosis, see ACRDYS1 (101800). (614613)

Related Diseases for Acrodysostosis 2 with or Without Hormone Resistance

Symptoms & Phenotypes for Acrodysostosis 2 with or Without Hormone Resistance

Symptoms via clinical synopsis from OMIM:

57
Growth Weight:
obesity

GenitourinaryInternal GenitaliaMale:
cryptorchidism

Genitourinary External Genitalia Male:
hypospadias

Skin Nails Hair Hair:
red hair
blond hair

Skeletal Hands:
short metacarpals
short phalanges
cone-shaped epiphyses
brachydactyly, severe

Head And Neck Eyes:
blue eyes

Skeletal Spine:
spinal stenosis
lack of normal lumbar interpediculate flare

Growth Other:
intrauterine growth retardation (rare)

Endocrine Features:
increased serum pth, mild
diabetes mellitus (1 patient)
hypothyroidism, congenital (1 patient)

Head And Neck Nose:
depressed nasal bridge
anteverted nares
nasal hypoplasia

Neurologic Behavioral Psychiatric Manifestations:
autism
hyperactivity

Head And Neck Face:
round face
midface hypoplasia
malar hypoplasia
prominent mandible
facial dysostosis
more
Skeletal:
advanced bone age
acrodysostosis

Skeletal Feet:
short phalanges
short metatarsals
brachydactyly, severe, with sparing of the big toe

Neurologic Central Nervous System:
delayed psychomotor development
learning disabilities
speech delay
intellectual disability (in most patients)

Growth Height:
short stature, mild (in some)

Cardiovascular Vascular:
intracranial hypertension (2 of 7 patients)
intracranial thrombosis (2 of 7 patients)


Clinical features from OMIM:

614613

Human phenotypes related to Acrodysostosis 2 with or Without Hormone Resistance:

32 (show all 30)
# Description HPO Frequency HPO Source Accession
1 cryptorchidism 32 HP:0000028
2 hypospadias 32 HP:0000047
3 malar flattening 32 HP:0000272
4 mandibular prognathia 32 HP:0000303
5 round face 32 HP:0000311
6 anteverted nares 32 HP:0000463
7 blue irides 32 HP:0000635
8 autism 32 HP:0000717
9 delayed speech and language development 32 HP:0000750
10 hyperactivity 32 HP:0000752
11 diabetes mellitus 32 occasional (7.5%) HP:0000819
12 congenital hypothyroidism 32 occasional (7.5%) HP:0000851
13 brachydactyly 32 HP:0001156
14 intellectual disability 32 hallmark (90%) HP:0001249
15 global developmental delay 32 HP:0001263
16 intrauterine growth retardation 32 occasional (7.5%) HP:0001511
17 obesity 32 HP:0001513
18 fair hair 32 HP:0002286
19 red hair 32 HP:0002297
20 increased intracranial pressure 32 HP:0002516
21 short nose 32 HP:0003196
22 spinal canal stenosis 32 HP:0003416
23 mild short stature 32 occasional (7.5%) HP:0003502
24 depressed nasal bridge 32 HP:0005280
25 accelerated skeletal maturation 32 HP:0005616
26 short phalanx of finger 32 HP:0009803
27 short metacarpal 32 HP:0010049
28 cone-shaped epiphysis 32 HP:0010579
29 short metatarsal 32 HP:0010743
30 midface retrusion 32 HP:0011800

Drugs & Therapeutics for Acrodysostosis 2 with or Without Hormone Resistance

Search Clinical Trials , NIH Clinical Center for Acrodysostosis 2 with or Without Hormone Resistance

Genetic Tests for Acrodysostosis 2 with or Without Hormone Resistance

Genetic tests related to Acrodysostosis 2 with or Without Hormone Resistance:

# Genetic test Affiliating Genes
1 Acrodysostosis 2, with or Without Hormone Resistance 29 PDE4D

Anatomical Context for Acrodysostosis 2 with or Without Hormone Resistance

MalaCards organs/tissues related to Acrodysostosis 2 with or Without Hormone Resistance:

41
Bone, Eye

Publications for Acrodysostosis 2 with or Without Hormone Resistance

Variations for Acrodysostosis 2 with or Without Hormone Resistance

UniProtKB/Swiss-Prot genetic disease variations for Acrodysostosis 2 with or Without Hormone Resistance:

75 (show all 12)
# Symbol AA change Variation ID SNP ID
1 PDE4D p.Ser190Ala VAR_068242 rs397514466
2 PDE4D p.Pro225Thr VAR_068243 rs397514464
3 PDE4D p.Phe226Ser VAR_068244 rs397514465
4 PDE4D p.Thr587Pro VAR_068245 rs397514467
5 PDE4D p.Ala227Ser VAR_069448
6 PDE4D p.Gln228Glu VAR_069449 rs397514468
7 PDE4D p.Ser301Thr VAR_069450
8 PDE4D p.Ala304Val VAR_069451 rs397515433
9 PDE4D p.Val329Ala VAR_069452
10 PDE4D p.Glu590Ala VAR_069453
11 PDE4D p.Gly673Asp VAR_069454 rs397514469
12 PDE4D p.Ile678Thr VAR_069455 rs587777188

ClinVar genetic disease variations for Acrodysostosis 2 with or Without Hormone Resistance:

6
(show all 22)
# Gene Variation Type Significance SNP ID Assembly Location
1 PDE4D NM_001165899.1(PDE4D): c.490C> A (p.Pro164Thr) single nucleotide variant Pathogenic rs397514464 GRCh37 Chromosome 5, 58489337: 58489337
2 PDE4D NM_001165899.1(PDE4D): c.490C> A (p.Pro164Thr) single nucleotide variant Pathogenic rs397514464 GRCh38 Chromosome 5, 59193511: 59193511
3 PDE4D NM_001165899.1(PDE4D): c.494T> C (p.Phe165Ser) single nucleotide variant Pathogenic rs397514465 GRCh37 Chromosome 5, 58489333: 58489333
4 PDE4D NM_001165899.1(PDE4D): c.494T> C (p.Phe165Ser) single nucleotide variant Pathogenic rs397514465 GRCh38 Chromosome 5, 59193507: 59193507
5 PDE4D NM_001165899.1(PDE4D): c.385T> G (p.Ser129Ala) single nucleotide variant Pathogenic rs397514466 GRCh37 Chromosome 5, 58511682: 58511682
6 PDE4D NM_001165899.1(PDE4D): c.385T> G (p.Ser129Ala) single nucleotide variant Pathogenic rs397514466 GRCh38 Chromosome 5, 59215856: 59215856
7 PDE4D NM_001165899.1(PDE4D): c.1576A> C (p.Thr526Pro) single nucleotide variant Pathogenic rs397514467 GRCh37 Chromosome 5, 58272248: 58272248
8 PDE4D NM_001165899.1(PDE4D): c.1576A> C (p.Thr526Pro) single nucleotide variant Pathogenic rs397514467 GRCh38 Chromosome 5, 58976421: 58976421
9 PDE4D NM_001165899.1(PDE4D): c.499C> G (p.Gln167Glu) single nucleotide variant Pathogenic rs397514468 GRCh37 Chromosome 5, 58489328: 58489328
10 PDE4D NM_001165899.1(PDE4D): c.499C> G (p.Gln167Glu) single nucleotide variant Pathogenic rs397514468 GRCh38 Chromosome 5, 59193502: 59193502
11 PDE4D NM_001165899.1(PDE4D): c.1769A> C (p.Glu590Ala) single nucleotide variant Pathogenic rs387906744 GRCh37 Chromosome 5, 58271545: 58271545
12 PDE4D NM_001165899.1(PDE4D): c.1769A> C (p.Glu590Ala) single nucleotide variant Pathogenic rs387906744 GRCh38 Chromosome 5, 58975718: 58975718
13 PDE4D NM_001165899.1(PDE4D): c.1835G> A (p.Gly612Asp) single nucleotide variant Pathogenic rs397514469 GRCh37 Chromosome 5, 58270903: 58270903
14 PDE4D NM_001165899.1(PDE4D): c.1835G> A (p.Gly612Asp) single nucleotide variant Pathogenic rs397514469 GRCh38 Chromosome 5, 58975076: 58975076
15 PDE4D NM_001165899.1(PDE4D): c.728C> T (p.Ala243Val) single nucleotide variant Pathogenic rs397515433 GRCh37 Chromosome 5, 58334696: 58334696
16 PDE4D NM_001165899.1(PDE4D): c.728C> T (p.Ala243Val) single nucleotide variant Pathogenic rs397515433 GRCh38 Chromosome 5, 59038869: 59038869
17 PDE4D NM_001165899.1(PDE4D): c.494T> G (p.Phe165Cys) single nucleotide variant Pathogenic rs397514465 GRCh38 Chromosome 5, 59193507: 59193507
18 PDE4D NM_001165899.1(PDE4D): c.494T> G (p.Phe165Cys) single nucleotide variant Pathogenic rs397514465 GRCh37 Chromosome 5, 58489333: 58489333
19 PDE4D NM_001165899.1(PDE4D): c.1850T> C (p.Ile617Thr) single nucleotide variant Pathogenic rs587777188 GRCh38 Chromosome 5, 58975061: 58975061
20 PDE4D NM_001165899.1(PDE4D): c.1850T> C (p.Ile617Thr) single nucleotide variant Pathogenic rs587777188 GRCh37 Chromosome 5, 58270888: 58270888
21 PDE4D NM_001104631.1(PDE4D): c.1762A> G (p.Met588Val) single nucleotide variant Pathogenic GRCh37 Chromosome 5, 58272245: 58272245
22 PDE4D NM_001104631.1(PDE4D): c.1762A> G (p.Met588Val) single nucleotide variant Pathogenic GRCh38 Chromosome 5, 58976418: 58976418

Expression for Acrodysostosis 2 with or Without Hormone Resistance

Search GEO for disease gene expression data for Acrodysostosis 2 with or Without Hormone Resistance.

Pathways for Acrodysostosis 2 with or Without Hormone Resistance

GO Terms for Acrodysostosis 2 with or Without Hormone Resistance

Sources for Acrodysostosis 2 with or Without Hormone Resistance

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