ANXD2
MCID: ANX008
MIFTS: 21

Anauxetic Dysplasia 2 (ANXD2)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Mental diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Anauxetic Dysplasia 2

MalaCards integrated aliases for Anauxetic Dysplasia 2:

Name: Anauxetic Dysplasia 2 58 76 6
Anxd2 58 76

Characteristics:

OMIM:

58
Inheritance:
autosomal recessive


HPO:

33
anauxetic dysplasia 2:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Anauxetic Dysplasia 2

OMIM : 58 Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability. Vertebrae are ovoid with concave dorsal surfaces in the lumbar region and show delayed bone maturation. Femoral heads and necks are hypoplastic, as are the iliac bodies. Long bones show irregular mineralization of the metaphyses. The first and fifth metacarpals are short and wide with small, late-ossifying epiphyses and bullet-shaped middle phalanges (summary by Barraza-Garcia et al., 2017). For a discussion of genetic heterogeneity of anauxetic dysplasia, see ANXD1 (607095). (617396)

MalaCards based summary : Anauxetic Dysplasia 2, is also known as anxd2. An important gene associated with Anauxetic Dysplasia 2 is POP1 (POP1 Homolog, Ribonuclease P/MRP Subunit). Affiliated tissues include bone, and related phenotypes are short neck and macroglossia

UniProtKB/Swiss-Prot : 76 Anauxetic dysplasia 2: An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.

Related Diseases for Anauxetic Dysplasia 2

Diseases in the Anauxetic Dysplasia 1 family:

Anauxetic Dysplasia 2

Symptoms & Phenotypes for Anauxetic Dysplasia 2

Human phenotypes related to Anauxetic Dysplasia 2:

33 (show all 23)
# Description HPO Frequency HPO Source Accession
1 short neck 33 occasional (7.5%) HP:0000470
2 macroglossia 33 occasional (7.5%) HP:0000158
3 coxa valga 33 occasional (7.5%) HP:0002673
4 small nail 33 occasional (7.5%) HP:0001792
5 hypodontia 33 occasional (7.5%) HP:0000668
6 nail dysplasia 33 occasional (7.5%) HP:0002164
7 sparse hair 33 occasional (7.5%) HP:0008070
8 relative macrocephaly 33 occasional (7.5%) HP:0004482
9 cervical spine instability 33 occasional (7.5%) HP:0010646
10 hyperlordosis 33 HP:0003307
11 delayed skeletal maturation 33 HP:0002750
12 flexion contracture 33 HP:0001371
13 ovoid vertebral bodies 33 HP:0003300
14 cubitus valgus 33 HP:0002967
15 shield chest 33 HP:0000914
16 brachydactyly 33 HP:0001156
17 midface retrusion 33 HP:0011800
18 coxa vara 33 HP:0002812
19 metaphyseal dysplasia 33 HP:0100255
20 short femoral neck 33 HP:0100864
21 thoracolumbar kyphoscoliosis 33 HP:0003423
22 hypoplastic iliac body 33 HP:0008824
23 hypoplasia of the femoral head 33 HP:0008802

Symptoms via clinical synopsis from OMIM:

58
Skeletal Spine:
ovoid vertebral bodies
thoracolumbar kyphoscoliosis
cervical spine instability (in some patients)
lumbosacral hyperlordosis
dorsal wedging of vertebrae
more
Skeletal Hands:
brachydactyly
metaphyseal irregularities of tubular bones
short broad bullet-shaped proximal and middle phalanges
cone-shaped epiphyses of proximal and middle phalanges
short and wide first and fifth metacarpals
more
Head And Neck Face:
midface hypoplasia

Chest External Features:
broad chest
prominent thorax

Skin Nails Hair Hair:
sparse hair (rare)
hypopigmented hair (rare)

Growth Height:
extreme short stature

Head And Neck Mouth:
macroglossia (rare)

Skeletal Feet:
prominent heels (in some patients)

Neurologic Central Nervous System:
mild intellectual disability (in some patients)

Skeletal Limbs:
cubitus valgus
bowing of ulna
hypoplastic femoral head
bowing of femur
hypoplastic femoral neck
more
Skeletal Pelvis:
coxa vara
coxa valga (in some patients)
hypoplastic iliac bodies
slanting or flaring acetabulae

Skeletal:
delayed bone age

Head And Neck Teeth:
hypodontia (rare)

Head And Neck Head:
relative macrocephaly (in some patients)

Growth Other:
growth retardation, prenatal onset

Head And Neck Neck:
short neck (rare)

Skin Nails Hair Nails:
small nails (rare)
dysplastic nails (rare)

Clinical features from OMIM:

617396

Drugs & Therapeutics for Anauxetic Dysplasia 2

Search Clinical Trials , NIH Clinical Center for Anauxetic Dysplasia 2

Genetic Tests for Anauxetic Dysplasia 2

Anatomical Context for Anauxetic Dysplasia 2

MalaCards organs/tissues related to Anauxetic Dysplasia 2:

42
Bone

Publications for Anauxetic Dysplasia 2

Articles related to Anauxetic Dysplasia 2:

# Title Authors Year
1
Broadening the phenotypic spectrum of POP1-skeletal dysplasias: identification of POP1 mutations in a mild and severe skeletal dysplasia. ( 28067412 )
2017
2
Further evidence of POP1 mutations as the cause of anauxetic dysplasia. ( 27380734 )
2016
3
Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia. ( 21455487 )
2011

Variations for Anauxetic Dysplasia 2

UniProtKB/Swiss-Prot genetic disease variations for Anauxetic Dysplasia 2:

76
# Symbol AA change Variation ID SNP ID
1 POP1 p.Gly583Glu VAR_067755 rs374828868
2 POP1 p.Asp511Tyr VAR_078770 rs106050502
3 POP1 p.Pro582Ser VAR_078771 rs106050502

ClinVar genetic disease variations for Anauxetic Dysplasia 2:

6
# Gene Variation Type Significance SNP ID Assembly Location
1 POP1 NM_001145860.1(POP1): c.1573C> T (p.Pro525Ser) single nucleotide variant Pathogenic rs769183311 GRCh37 Chromosome 8, 99153095: 99153095
2 POP1 NM_001145860.1(POP1): c.1573C> T (p.Pro525Ser) single nucleotide variant Pathogenic rs769183311 GRCh38 Chromosome 8, 98140867: 98140867
3 POP1 NM_001145860.1(POP1): c.1748G> A (p.Gly583Glu) single nucleotide variant Pathogenic rs374828868 GRCh37 Chromosome 8, 99161080: 99161080
4 POP1 NM_001145860.1(POP1): c.1748G> A (p.Gly583Glu) single nucleotide variant Pathogenic rs374828868 GRCh38 Chromosome 8, 98148852: 98148852
5 POP1 NM_001145860.1(POP1): c.1531G> T (p.Asp511Tyr) single nucleotide variant Pathogenic rs1060505025 GRCh38 Chromosome 8, 98140825: 98140825
6 POP1 NM_001145860.1(POP1): c.1744C> T (p.Pro582Ser) single nucleotide variant Pathogenic rs1060505023 GRCh38 Chromosome 8, 98148848: 98148848
7 POP1 NM_001145860.1(POP1): c.1744C> T (p.Pro582Ser) single nucleotide variant Pathogenic rs1060505023 GRCh37 Chromosome 8, 99161076: 99161076
8 POP1 NM_001145860.1(POP1): c.2607delC (p.Glu870Serfs) deletion Pathogenic rs1060505024 GRCh38 Chromosome 8, 98157803: 98157803
9 POP1 NM_001145860.1(POP1): c.2607delC (p.Glu870Serfs) deletion Pathogenic rs1060505024 GRCh37 Chromosome 8, 99170031: 99170031
10 POP1 NM_001145860.1(POP1): c.1531G> T (p.Asp511Tyr) single nucleotide variant Pathogenic rs1060505025 GRCh37 Chromosome 8, 99153053: 99153053

Expression for Anauxetic Dysplasia 2

Search GEO for disease gene expression data for Anauxetic Dysplasia 2.

Pathways for Anauxetic Dysplasia 2

GO Terms for Anauxetic Dysplasia 2

Sources for Anauxetic Dysplasia 2

3 CDC
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10 dbSNP
11 DGIdb
17 EFO
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20 FMA
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63 PubMed
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70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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