MCID: SCH030
MIFTS: 32

Schneckenbecken Dysplasia

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

Aliases & Classifications for Schneckenbecken Dysplasia

MalaCards integrated aliases for Schneckenbecken Dysplasia:

Name: Schneckenbecken Dysplasia 57 12 53 59 75 37 29 13 6 15 73
Chondrodysplasia, Lethal Neonatal, with Snail-Like Pelvis 57
Chondrodysplasia Lethal Neonatal with Snail Like Pelvis 53
Chondrodysplasia with Snail-Like Pelvis 59
Dysplasia, Schneckenbecken 40
Slc35d1-Cdg 59
Schbckd 75
Shnknd 57

Characteristics:

Orphanet epidemiological data:

59
schneckenbecken dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Antenatal; Age of death: embryofetal,stillbirth;

OMIM:

57
Inheritance:
autosomal recessive

Miscellaneous:
stillborn or lethal in the neonatal period


HPO:

32
schneckenbecken dysplasia:
Mortality/Aging stillbirth
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

OMIM 57 269250
Disease Ontology 12 DOID:0050775
Orphanet 59 ORPHA3144
ICD10 via Orphanet 34 Q77.7
MESH via Orphanet 45 C536637
UMLS via Orphanet 74 C0432194
MedGen 42 C0432194
KEGG 37 H00474
UMLS 73 C0432194

Summaries for Schneckenbecken Dysplasia

NIH Rare Diseases : 53 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3144Disease definitionSchneckenbecken dysplasia (or chondrodysplasia with snail-like pelvis) is a prenatally lethal spondylodysplastic dysplasia.EpidemiologyLess than 20 cases have been reported in the literature so far.Clinical descriptionThe typical radiographic finding is the snail-like configuration of the hypoplastic iliac bone. Additional features include flattened hypoplastic vertebral bodies, short ribs, short and wide fibulae, short and broad long bones with a dumbbell-like appearance, and precocious ossification of the tarsus.EtiologyThis syndrome is caused by loss-of-function mutations of the SLC35D1 gene (1p32-p31)Genetic counselingSchneckenbecken dysplasia is transmitted in an autosomal recessive manner.Visit the Orphanet disease page for more resources.

MalaCards based summary : Schneckenbecken Dysplasia, also known as chondrodysplasia, lethal neonatal, with snail-like pelvis, is related to dwarfism. An important gene associated with Schneckenbecken Dysplasia is SLC35D1 (Solute Carrier Family 35 Member D1). Affiliated tissues include bone, and related phenotypes are cryptorchidism and cleft palate

UniProtKB/Swiss-Prot : 75 Schneckenbecken dysplasia: Rare, autosomal recessive, lethal short-limbed skeletal dysplasia with platyspondylia.

Description from OMIM: 269250

Related Diseases for Schneckenbecken Dysplasia

Diseases related to Schneckenbecken Dysplasia via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 dwarfism 10.0

Symptoms & Phenotypes for Schneckenbecken Dysplasia

Symptoms via clinical synopsis from OMIM:

57
Head And Neck Neck:
short neck

Chest External Features:
narrow chest

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Chest Ribs Sternum Clavicles And Scapulae:
hypoplastic scapulae
short, splayed ribs
hook-shaped clavicles

Head And Neck Head:
large head

Skeletal Spine:
round vertebral bodies
sacral stenosis

Skeletal Feet:
precociously ossified tarsal bones

Head And Neck Mouth:
cleft palate

Skeletal Hands:
brachydactyly
precociously ossified carpal bones

Head And Neck Face:
flat midface

Skeletal Pelvis:
flat acetabular roofs
snail-shaped ilia

Growth Height:
dwarfism, micromelic

Skeletal Limbs:
dumbbell-shaped short long bones
metaphyseal irregularities

Prenatal Manifestations Delivery:
stillborn or lethal in the neonatal period


Clinical features from OMIM:

269250

Human phenotypes related to Schneckenbecken Dysplasia:

59 32 (show all 34)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cryptorchidism 59 32 frequent (33%) Frequent (79-30%) HP:0000028
2 cleft palate 59 32 occasional (7.5%) Occasional (29-5%) HP:0000175
3 macrocephaly 59 32 hallmark (90%) Very frequent (99-80%) HP:0000256
4 dolichocephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000268
5 malar flattening 59 32 hallmark (90%) Very frequent (99-80%) HP:0000272
6 short neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000470
7 short ribs 59 32 hallmark (90%) Very frequent (99-80%) HP:0000773
8 narrow chest 59 32 hallmark (90%) Very frequent (99-80%) HP:0000774
9 hypoplastic scapulae 59 32 hallmark (90%) Very frequent (99-80%) HP:0000882
10 lateral clavicle hook 59 32 hallmark (90%) Very frequent (99-80%) HP:0000895
11 hypoplastic ilia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000946
12 dumbbell-shaped long bone 59 32 occasional (7.5%) Occasional (29-5%) HP:0000947
13 lymphedema 59 32 hallmark (90%) Very frequent (99-80%) HP:0001004
14 abnormality of the fingernails 59 32 frequent (33%) Frequent (79-30%) HP:0001231
15 polyhydramnios 59 32 hallmark (90%) Very frequent (99-80%) HP:0001561
16 hypoplastic toenails 59 32 frequent (33%) Frequent (79-30%) HP:0001800
17 micromelia 59 32 hallmark (90%) Very frequent (99-80%) HP:0002983
18 fibular hypoplasia 59 32 hallmark (90%) Very frequent (99-80%) HP:0003038
19 diaphyseal thickening 59 32 occasional (7.5%) Occasional (29-5%) HP:0005019
20 accelerated skeletal maturation 59 32 occasional (7.5%) Occasional (29-5%) HP:0005616
21 advanced tarsal ossification 59 32 occasional (7.5%) Occasional (29-5%) HP:0008108
22 hypoplastic vertebral bodies 59 32 hallmark (90%) Very frequent (99-80%) HP:0008479
23 disproportionate short-limb short stature 59 32 hallmark (90%) Very frequent (99-80%) HP:0008873
24 increased fibular diameter 59 32 hallmark (90%) Very frequent (99-80%) HP:0012107
25 abnormality of the metaphysis 59 Very frequent (99-80%)
26 abnormal form of the vertebral bodies 59 Very frequent (99-80%)
27 anterior rib cupping 32 HP:0000907
28 brachydactyly 32 HP:0001156
29 metaphyseal irregularity 32 HP:0003025
30 flat acetabular roof 32 HP:0003180
31 ovoid vertebral bodies 32 HP:0003300
32 advanced ossification of carpal bones 32 HP:0004233
33 midface retrusion 32 HP:0011800
34 snail-like ilia 32 HP:0031026

MGI Mouse Phenotypes related to Schneckenbecken Dysplasia:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 9.26 GALNT3 INPPL1 SLC35D1 DYNC2H1
2 limbs/digits/tail MP:0005371 8.8 DYNC2H1 GALNT3 SLC35D1

Drugs & Therapeutics for Schneckenbecken Dysplasia

Search Clinical Trials , NIH Clinical Center for Schneckenbecken Dysplasia

Genetic Tests for Schneckenbecken Dysplasia

Genetic tests related to Schneckenbecken Dysplasia:

# Genetic test Affiliating Genes
1 Schneckenbecken Dysplasia 29 SLC35D1

Anatomical Context for Schneckenbecken Dysplasia

MalaCards organs/tissues related to Schneckenbecken Dysplasia:

41
Bone

Publications for Schneckenbecken Dysplasia

Articles related to Schneckenbecken Dysplasia:

# Title Authors Year
1
A second locus for schneckenbecken dysplasia identified by a mutation in the gene encoding inositol polyphosphate phosphatase-like 1 (INPPL1). ( 25997753 )
2015
2
Schneckenbecken dysplasia in fetus: report of four cases. ( 19407457 )
2009
3
Identification of loss-of-function mutations of SLC35D1 in patients with Schneckenbecken dysplasia, but not with other severe spondylodysplastic dysplasias group diseases. ( 19508970 )
2009
4
Perinatally lethal, short-limbed dwarfism with distinct features -- Schneckenbecken dysplasia. ( 15386610 )
2004
5
Schneckenbecken dysplasia, radiology, and histology. ( 11200994 )
2001
6
Case report 870. Schneckenbecken dysplasia, possibly a new variant. ( 7824994 )
1994
7
Case report 693: Schneckenbecken dysplasia. ( 1754916 )
1991
8
A distinct lethal neonatal chondrodysplasia with snail-like pelvis: Schneckenbecken dysplasia. ( 3799723 )
1986

Variations for Schneckenbecken Dysplasia

ClinVar genetic disease variations for Schneckenbecken Dysplasia:

6
(show all 12)
# Gene Variation Type Significance SNP ID Assembly Location
1 SLC35D1 SLC35D1, 1-BP DEL, 125A deletion Pathogenic
2 SLC35D1 NM_015139.2(SLC35D1): c.932G> A (p.Trp311Ter) single nucleotide variant Pathogenic rs137853111 GRCh37 Chromosome 1, 67474795: 67474795
3 SLC35D1 NM_015139.2(SLC35D1): c.932G> A (p.Trp311Ter) single nucleotide variant Pathogenic rs137853111 GRCh38 Chromosome 1, 67009112: 67009112
4 SLC35D1 SLC35D1, IVS7DS, G-T, +1 single nucleotide variant Pathogenic
5 SLC35D1 NM_015139.2(SLC35D1): c.319C> T (p.Arg107Ter) single nucleotide variant Pathogenic rs267607063 GRCh37 Chromosome 1, 67518459: 67518459
6 SLC35D1 NM_015139.2(SLC35D1): c.319C> T (p.Arg107Ter) single nucleotide variant Pathogenic rs267607063 GRCh38 Chromosome 1, 67052776: 67052776
7 SLC35D1 SLC35D1, IVS4DS, A-G, +3 single nucleotide variant Pathogenic
8 SLC35D1 SLC35D1, 4.9-KB DEL, EX7 deletion Pathogenic
9 SLC35D1 NM_015139.2(SLC35D1): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs267607062 GRCh37 Chromosome 1, 67519504: 67519504
10 SLC35D1 NM_015139.2(SLC35D1): c.193A> C (p.Thr65Pro) single nucleotide variant Pathogenic rs267607062 GRCh38 Chromosome 1, 67053821: 67053821
11 SLC35D1 NM_015139.2(SLC35D1): c.40G> A (p.Gly14Arg) single nucleotide variant Uncertain significance GRCh37 Chromosome 1, 67519657: 67519657
12 SLC35D1 NM_015139.2(SLC35D1): c.40G> A (p.Gly14Arg) single nucleotide variant Uncertain significance GRCh38 Chromosome 1, 67053974: 67053974

Expression for Schneckenbecken Dysplasia

Search GEO for disease gene expression data for Schneckenbecken Dysplasia.

Pathways for Schneckenbecken Dysplasia

GO Terms for Schneckenbecken Dysplasia

Cellular components related to Schneckenbecken Dysplasia according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 Golgi apparatus GO:0005794 8.92 DYNC2H1 GALNT3 INPPL1 STS

Sources for Schneckenbecken Dysplasia

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
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