MCID: ANX008
MIFTS: 15

Anauxetic Dysplasia 2

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

Aliases & Classifications for Anauxetic Dysplasia 2

MalaCards integrated aliases for Anauxetic Dysplasia 2:

Name: Anauxetic Dysplasia 2 54 71
Anxd2 71

Characteristics:

OMIM:

54
Inheritance:
autosomal recessive


Classifications:



External Ids:

OMIM 54 617396
MedGen 40 CN241834
MeSH 42 D010009

Summaries for Anauxetic Dysplasia 2

OMIM : 54
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.

UniProtKB/Swiss-Prot : 71 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

Symptoms via clinical synopsis from OMIM:

54

Skeletal:
delayed bone age

Head And Neck- Face:
midface hypoplasia

Skeletal- Limbs:
cubitus valgus
hypoplastic femoral head
hypoplastic femoral neck
irregular metaphyseal mineralization
metaphyseal dysplasia of hip, knee, and wrist
more
Skin Nails & Hair- Hair:
sparse hair (rare)
hypopigmented hair (rare)

Growth- Height:
extreme short stature

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

Head And Neck- Neck:
short neck (rare)

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

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
Skeletal- Pelvis:
coxa vara
hypoplastic iliac bodies
slanting or flaring acetabulae
coxa valga (in some patients)

Head And Neck- Teeth:
hypodontia (rare)

Skeletal- Spine:
ovoid vertebral bodies
cervical spine instability (in some patients)
thoracolumbar kyphoscoliosis
lumbosacral hyperlordosis
dorsal wedging of vertebrae
more
Growth- Other:
growth retardation, prenatal onset

Head And Neck- Mouth:
macroglossia (rare)

Skeletal- Feet:
prominent heels (in some patients)

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


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:

39
Bone

Publications for Anauxetic Dysplasia 2

Variations for Anauxetic Dysplasia 2

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

71
id Symbol AA change Variation ID SNP ID
1 POP1 p.Gly583Glu VAR_067755 rs374828868
2 POP1 p.Asp511Tyr VAR_078770
3 POP1 p.Pro582Ser VAR_078771

ClinVar genetic disease variations for Anauxetic Dysplasia 2:

6
id 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.1748G> A (p.Gly583Glu) single nucleotide variant Pathogenic rs374828868 GRCh37 Chromosome 8, 99161080: 99161080
3 POP1 NM_001145860.1(POP1): c.1744C> T (p.Pro582Ser) single nucleotide variant Pathogenic rs1060505023 GRCh38 Chromosome 8, 98148848: 98148848
4 POP1 NM_001145860.1(POP1): c.2607delC (p.Glu870Serfs) deletion Pathogenic rs1060505024 GRCh38 Chromosome 8, 98157803: 98157803
5 POP1 NM_001145860.1(POP1): c.1531G> T (p.Asp511Tyr) single nucleotide variant Pathogenic rs1060505025 GRCh38 Chromosome 8, 98140825: 98140825

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
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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